Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



IKBKAP Gene

protein-coding   GIFtS: 64
GCID: GC09M111629

Inhibitor Of Kappa Light Polypeptide Gene Enhancer In B-Cells,...

(Previous names: dysautonomia (Riley-Day syndrome, hereditary sensory autonomic...)
(Previous symbol: DYS)
  See IKBKAP-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Inhibitor Of Kappa Light Polypeptide Gene Enhancer In B-Cells, Kinase
Complex-Associated Protein1 2
     p1502 3
IKAP2 3 5     Dysautonomia (Riley-Day Syndrome, Hereditary Sensory Autonomic Neuropathy
Type III)1
DYS1 2     FD2
Elongator Acetyltransferase Complex Subunit 11 2     IKI32
IkappaB Kinase Complex-Associated Protein2 3     TOT12
ELP12 3     Elongator Complex Protein 12
IKK Complex-Associated Protein2 3     

External Ids:    HGNC: 59591   Entrez Gene: 85182   Ensembl: ENSG000000700617   OMIM: 6037225   UniProtKB: O951633   

Export aliases for IKBKAP gene to outside databases

Previous GC identifers: GC09M102427 GC09M103361 GC09M105087 GC09M107010 GC09M107011 GC09M108709 GC09M110669 GC09M081229


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for IKBKAP Gene:
The protein encoded by this gene is a scaffold protein and a regulator for 3 different kinases involved in
proinflammatory signaling. This encoded protein can bind NF-kappa-B-inducing kinase (NIK) and IKKs through
separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated
with familial dysautonomia. (provided by RefSeq, Jul 2008)

GeneCards Summary for IKBKAP Gene:
IKBKAP (inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein) is a protein-coding gene. Diseases associated with IKBKAP include hyperlipoproteinemia type iv, and baroreflex failure. GO annotations related to this gene include phosphorylase kinase regulator activity and signal transducer activity.

UniProtKB/Swiss-Prot: ELP1_HUMAN, O95163
Function: May act as a scaffold protein that may assemble active IKK-MAP3K14 complexes (IKKA, IKKB and
MAP3K14/NIK)
Function: Acts as subunit of the RNA polymerase II elongator complex, which is a histone acetyltransferase
component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation. Elongator
may play a role in chromatin remodeling and is involved in acetylation of histones H3 and probably H4. Involved
in cell migration




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the IKBKAP gene promoter:
         FOXF2   AP-1   ATF-2   STAT5A   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   E4BP4   POU3F2   c-Jun   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): IKBKAP promoter sequence
   Search Chromatin IP Primers for IKBKAP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IKBKAP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q31   Ensembl cytogenetic band:  9q31.3   HGNC cytogenetic band: 9q31

IKBKAP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IKBKAP gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M111629:  view genomic region     (about GC identifiers)

Start:
111,629,797 bp from pter      End:
111,696,608 bp from pter
Size:
66,812 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: ELP1_HUMAN, O95163 (See protein sequence)
Recommended Name: Elongator complex protein 1  
Size: 1332 amino acids; 150254 Da
Subunit: Interacts preferentially with MAP3K14/NIK followed by IKK-alpha and IKK-beta. Component of the RNA
polymerase II elongator complex (Elongator), which consists of IKBKAP/ELP1, STIP1/ELP2, ELP3, ELP4, ELP5 and
ELP6. Elongator associates with the C-terminal domain (CTD) of Pol II largest subunit. Interacts with ELP3
Sequence caution: Sequence=CAB43219.1; Type=Frameshift; Positions=1286;
Secondary accessions: Q5JSV2 Q9H327 Q9UG87

Explore the universe of human proteins at neXtProt for IKBKAP: NX_O95163

Explore proteomics data for IKBKAP at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys464, Lys474, Lys706
  • Modification sites at PhosphoSitePlus

  • See IKBKAP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003631.2  
    ENSEMBL proteins: 
     ENSP00000433514   ENSP00000363779   ENSP00000439367  
    Reactome Protein details: O95163

    IKBKAP Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for IKBKAP
    OriGene Protein Over-expression Lysate for IKBKAP
    OriGene Custom MassSpec
    OriGene Custom Protein Services for IKBKAP
    GenScript Custom Purified and Recombinant Proteins Services for IKBKAP
    Novus Biologicals IKBKAP Proteins
    Novus Biologicals IKBKAP Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for IKBKAP 

    IKBKAP Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for IKBKAP 
    OriGene Antibodies for IKBKAP
    OriGene Custom Antibody Services for IKBKAP
    Novus Biologicals IKBKAP Antibodies
    Abcam antibodies for IKBKAP
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for IKBKAP
    LSBio Antibodies in human, mouse, rat for IKBKAP

    IKBKAP Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for IKBKAP
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for IKBKAP
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for IKBKAP 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    HGNC Gene Families:
    ELP: Elongator acetyltransferase complex subunits

    2 InterPro protein domains:
     IPR006849 IKI3
     IPR011042 6-blade_b-propeller_TolB-like

    Graphical View of Domain Structure for InterPro Entry O95163

    ProtoNet protein and cluster: O95163

    UniProtKB/Swiss-Prot: ELP1_HUMAN, O95163
    Similarity: Belongs to the ELP1/IKA1 family


    Find genes that share domains with IKBKAP           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ELP1_HUMAN, O95163
    Function: May act as a scaffold protein that may assemble active IKK-MAP3K14 complexes (IKKA, IKKB and
    MAP3K14/NIK)
    Function: Acts as subunit of the RNA polymerase II elongator complex, which is a histone acetyltransferase
    component of the RNA polymerase II (Pol II) holoenzyme and is involved in transcriptional elongation. Elongator
    may play a role in chromatin remodeling and is involved in acetylation of histones H3 and probably H4. Involved
    in cell migration

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677contributes to DNA binding IDA11714725
    GO:0004871signal transducer activity TAS9751059
    GO:0005488binding ----
    GO:0005515protein binding IPI11714725
    GO:0008607phosphorylase kinase regulator activity IDA11818576
         
    Find genes that share ontologies with IKBKAP           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for IKBKAP:
     Decreased telomerase activity  Increased homologous recombina  Synthetic lethal with Ras 

         Selected MGI mutant phenotypes (inferred from 6 alleles(MGI details for Ikbkap) (see all 21):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     digestive/alimentary  embryogenesis  endocrine/exocrine gland  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  integument  limbs/digits/tail  mortality/aging 

    Find genes that share phenotypes with IKBKAP           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Ikbkaptm1.1Id for IKBKAP

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for IKBKAP
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for IKBKAP

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for IKBKAP
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for IKBKAP

    miRNA
    Products:
        
    miRTarBase miRNAs that target IKBKAP:
    hsa-mir-26b-5p (MIRT029432), hsa-mir-24-3p (MIRT050380), hsa-mir-92a-3p (MIRT049662), hsa-mir-1 (MIRT023692), hsa-mir-93-3p (MIRT038854), hsa-mir-296-3p (MIRT038420)

    Block miRNA regulation of human, mouse, rat IKBKAP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate IKBKAP (see all 19):
    hsa-let-7d hsa-miR-522 hsa-let-7c hsa-miR-371-5p hsa-let-7g hsa-let-7a hsa-miR-412 hsa-miR-98
    SwitchGear 3'UTR luciferase reporter plasmidIKBKAP 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for IKBKAP
    Predesigned siRNA for gene silencing in human, mouse, rat IKBKAP

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for IKBKAP

    Clone
    Products:
         
    OriGene clones in human, mouse for IKBKAP (see all 6)
    OriGene ORF clones in mouse, rat for IKBKAP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: IKBKAP (NM_003640)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for IKBKAP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IKBKAP

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for IKBKAP
    Browse ESI BIO Cell Lines and PureStem Progenitors for IKBKAP 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IKBKAP


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    ELP1_HUMAN, O95163: Cytoplasm. Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol3
    cytoskeleton2
    plasma membrane2
    extracellular1
    mitochondrion1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005730nucleolus IDA11714725
    GO:0005737cytoplasm IDA--
    GO:0008023transcription elongation factor complex IDA11714725
    GO:0016591DNA-directed RNA polymerase II, holoenzyme IDA11714725
    GO:0033588Elongator holoenzyme complex IDA--

    Find genes that share ontologies with IKBKAP           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for IKBKAP About    
    See pathways by source

    SuperPathContained pathways About
    1RNA Polymerase I Promoter Opening
    HATs acetylate histones0.34
    Chromatin organization0.34
    Chromatin modifying enzymes0.34
    2Immune response Bacterial infections in normal airways
    Transcription NF kB signaling pathway0.32
    3TNF-alpha/NF-kB Signaling Pathway
    TNF-alpha/NF-kB Signaling Pathway
    4Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation


    Find genes that share SuperPaths with IKBKAP           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for IKBKAP
        Chromatin Regulation / Acetylation

    1 GeneGo (Thomson Reuters) Pathway for IKBKAP
        Transcription NF-kB signaling pathway

    1 BioSystems Pathway for IKBKAP
        TNF-alpha/NF-kB Signaling Pathway

    1 Reactome Pathway for IKBKAP
        HATs acetylate histones


        Pathway & Disease-focused RT2 Profiler PCR Array including IKBKAP: 
              TNF Ligands & Receptors in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for IKBKAP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for IKBKAP (O951631, 2, 3 ENSP000003637794) via UniProtKB, MINT, STRING, and/or I2D (see all 851)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HTTP428581, 2, 3, ENSP000003471844EBI-347559,EBI-466029 MINT-3978299 MINT-3978214 MINT-3977926 MINT-3981402 I2D: score=6 STRING: ENSP00000347184
    ENSG00000225987P404252, 3, ENSP000004039484MINT-62525 I2D: score=5 STRING: ENSP00000403948
    ENSG00000237344P404252, 3, ENSP000003971774MINT-62525 I2D: score=5 STRING: ENSP00000397177
    PBX2P404252, 3, ENSP000003641904MINT-62525 I2D: score=5 STRING: ENSP00000364190
    ENSG00000206315P404252, 3MINT-62525 I2D: score=5 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006325chromatin organization TAS--
    GO:0006357regulation of transcription from RNA polymerase II promoter TAS11714725
    GO:0006368transcription elongation from RNA polymerase II promoter IDA11714725
    GO:0006461protein complex assembly TAS9751059
    GO:0006468protein phosphorylation TAS9751059

    Find genes that share ontologies with IKBKAP           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for IKBKAP (ELP1)

    5 Novoseek inferred chemical compound relationships for IKBKAP gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tocotrienol 82 2 16125677 (1), 14521957 (1)
    cytokinin 60.5 17 19033881 (6), 17206408 (3), 14709595 (2)
    egcg 49.2 6 14521957 (3), 16125677 (1), 18091349 (1)
    threonine 8.91 2 11722848 (1)
    serine 0 2 11722848 (1)



    Find genes that share compounds with IKBKAP           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for IKBKAP gene: 
    NM_003640.3  

    Unigene Cluster for IKBKAP:

    Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
    Hs.494738  [show with all ESTs]
    Unigene Representative Sequence: NM_003640
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000495759(uc004bdk.3 uc010mtp.3) ENST00000374647(uc004bdl.3 uc004bdm.4 uc011lwc.2 uc010mtq.3)
    ENST00000467959 ENST00000537196
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat IKBKAP using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate IKBKAP (see all 19):
    hsa-let-7d hsa-miR-522 hsa-let-7c hsa-miR-371-5p hsa-let-7g hsa-let-7a hsa-miR-412 hsa-miR-98
    SwitchGear 3'UTR luciferase reporter plasmidIKBKAP 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for IKBKAP
    Predesigned siRNA for gene silencing in human, mouse, rat IKBKAP
    Clone
    Products:
         
    OriGene clones in human, mouse for IKBKAP (see all 6)
    OriGene ORF clones in mouse, rat for IKBKAP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: IKBKAP (NM_003640)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for IKBKAP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IKBKAP
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for IKBKAP
    OriGene qSTAR qPCR primer pairs in human, mouse for IKBKAP
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat IKBKAP
      QuantiTect SYBR Green Assays in human, mouse, rat IKBKAP
      QuantiFast Probe-based Assays in human, mouse, rat IKBKAP

    Additional mRNA sequence: 

    AB210033.1 AF044195.1 AF153419.2 AK001641.1 AK022559.1 AK024223.1 AK127237.1 AK225798.1 
    AK289962.1 AK304742.1 AL049945.1 BC033094.1 CR749385.1 

    13 DOTS entries:

    DT.448141  DT.455449  DT.97810003  DT.121189521  DT.99954887  DT.92438687  DT.95170546  DT.100791598 
    DT.100791600  DT.92438681  DT.121189490  DT.121189503  DT.95170545 

    Selected AceView cDNA sequences (see all 228):

    CB305972 BM273258 BU542024 BM835480 CA419639 BQ278201 AA478782 AA962172 
    BM273023 BF061438 BM675147 BU848834 AK127237 BC033094 CF552514 BU683011 
    CD673986 W86818 AU127237 BM720285 AA826453 BU535605 BM786795 BX509169 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for IKBKAP (see all 11)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^
    SP1:                                                              -                 -                                                                           
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                    -     -                                 

    ExUns: 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b · 27c ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37a · 37b ^
    SP1:                                                                                      -                                                     -               
    SP2:                                                                                      -                                                     -               
    SP3:                                                                                      -                                                                     
    SP4:                                                                                                                                            -               
    SP5:                                                                                                                                                            

    ExUns: 38a · 38b · 38c
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for IKBKAP

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    IKBKAP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    IKBKAP Expression
    About this image

    IKBKAP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IKBKAP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.494738
        Pathway & Disease-focused RT2 Profiler PCR Array including IKBKAP: 
              TNF Ligands & Receptors in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for IKBKAP
    OriGene qSTAR qPCR primer pairs in human, mouse for IKBKAP
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat IKBKAP
    QuantiTect SYBR Green Assays in human, mouse, rat IKBKAP
    QuantiFast Probe-based Assays in human, mouse, rat IKBKAP
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IKBKAP

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for IKBKAP gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ikbkap1 , 5 inhibitor of kappa light polypeptide enhancer in B more1, 5 83.43(n)1
    81.2(a)1
      4 (31.66 cM)5
    2302331  NM_026079.31  NP_080355.21 
     567496805 
    chicken
    (Gallus gallus)
    Aves IKBKAP1 inhibitor of kappa light polypeptide gene enhancer more 68.42(n)
    66.69(a)
      427375  XM_003643071.2  XP_003643119.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    68(a)
    64(a)
    many → 1
    many → 1
    GL343544.1(448285-465263)
    GL343257.1(1674-60736)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ikbkap1 inhibitor of kappa light polypeptide gene enhancer more 65.35(n)
    62.42(a)
      100170442  NM_001130214.1  NP_001123686.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ikbkap1 inhibitor of kappa light polypeptide gene enhancer more 61.11(n)
    59.53(a)
      561039  XM_684442.5  XP_689534.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG105353
    Elp11
    defense response3
    Elongator complex protein 11
    29(a)3
    44.96(n)1
    35.3(a)1
      86E183
    413991  NM_001275549.11  NP_001262478.11 
    worm
    (Caenorhabditis elegans)
    Secernentea elpc-16
    Protein ELPC-1 (elpc-1) mRNA, complete cds
    22(a)
    1 ↔ 1
    I(5114119-5118852) WBGene00022463
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes IKI3(YLR384C)4
    IKI31
    Subunit of Elongator complex, which is required for more4
    IKI31
    46.4(n)1
    36.07(a)1
      12(892900-888851)4
    8511001, 4  NP_013488.31  NP_013488.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ABO11 ABO1 43.43(n)
    30.73(a)
      831213  NM_121371.2  NP_196872.1 
    rice
    (Oryza sativa)
    Liliopsida Os07g05637001 Os07g0563700 44.25(n)
    31.33(a)
      4343611  NM_001066533.1  NP_001059998.1 


    ENSEMBL Gene Tree for IKBKAP (if available)
    TreeFam Gene Tree for IKBKAP (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for IKBKAP gene
    2 SIMAP similar genes for IKBKAP using alignment to 5 protein entries:     ELP1_HUMAN (see all proteins):
    DKFZp781H1425    IKBKAP variant protein

    Find genes that share paralogs with IKBKAP           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for IKBKAP (see all 1883)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0113274
    Neuropathy, hereditary sensory and autonomic, 3 (HSAN3)4--see VAR_0113272 R P mis40--------
    rs1110331711,2
    C,Fpathogenic1111670968(-) GTAAGT/CGCCAT 1 -- int11Minor allele frequency- C:0.00EU 1321
    rs1378530221,2
    Cpathogenic1111671455(-) TTCACA/C/GGATTG 2 P R mis11NA 4552
    rs1440196691,2
    C--81261166(+) AAAAA-/ATTAGC 1 -- int10--------
    rs352126381,2
    C--81280577(+) AAAAA-/AGAAGA 1 -- int10--------
    rs342685401,2
    C--81283517(+) CTGCC-/AAAAAA 1 -- int10--------
    rs1131666061,2
    C--81296280(+) GGGGGG/TGGTGG 1 -- us2k10--------
    rs560945301,2
    C--111633505(+) AGAGTA/GCTGTT 1 -- int13Minor allele frequency- G:0.09NA WA 240
    rs1998194091,2
    C--111635085(+) GTCTG-/AAAAAAAA
    AAAAAAAAAA
    AAAAA
    1 -- int10--------
    rs346061841,2
    C--111635104(+) AAAAA-/AAAA/AAAA
    AA
    /AAAAAAAA
    AAAAA
    2 -- int1 cds11NA 2

    HapMap Linkage Disequilibrium report for IKBKAP (111629797 - 111696608 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for IKBKAP:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1329530CNV Deletion17803354
    esv2738907CNV Deletion23290073
    esv2738909CNV Deletion23290073
    dgv199e180CNV Deletion20482838
    esv2738905CNV Deletion23290073
    esv2738904CNV Deletion23290073
    esv2738908CNV Deletion23290073
    nsv6659CNV Insertion18451855
    nsv416100CNV Loss16902084

    Human Gene Mutation Database (HGMD): IKBKAP
    Locus Specific Mutation Databases (LSDB): IKBKAP

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing IKBKAP
    DNA2.0 Custom Variant and Variant Library Synthesis for IKBKAP

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 603722   
    OMIM disorders: 223900  
    UniProtKB/Swiss-Prot: ELP1_HUMAN, O95163
  • Neuropathy, hereditary sensory and autonomic, 3 (HSAN3) [MIM:223900]: A form of hereditary sensory and
    autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration
    of dorsal root and autonomic ganglion cells, and by sensory and/or autonomic abnormalities. HSAN3 patients
    manifest a variety of symptoms such as alacrima, decreased taste, decreased sensitivity to pain and temperature,
    vasomotor instability, hypoactive or absent deep tendon reflexes, vomiting crises, and gastrointestinal
    dysfunction. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 6 diseases for IKBKAP:    
    About MalaCards
    hyperlipoproteinemia type iv    baroreflex failure    dysautonomia    riley-day syndrome
    differentiating neuroblastoma    autonomic neuropathy

    4 diseases from the University of Copenhagen DISEASES database for IKBKAP:
    Neuropathy     Gastritis     Hyperlipoproteinemia type IV     Myopathy

    Find genes that share disorders with IKBKAP           About GenesLikeMe

    Selected Novoseek inferred disease relationships for IKBKAP gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dysautonomia familial 98.6 49 12577200 (2), 16125677 (2), 12788105 (2), 18091349 (2) (see all 30)
    neuropathy congenital sensory 86.1 2 12831599 (1), 11179008 (1)
    sensory neuropathy hereditary 78.1 1 15319794 (1)
    autonomic neuropathy 75.3 5 12577200 (1), 17644305 (1), 19015235 (1)
    familial disorder 63.8 4 11714725 (1), 11722848 (1)
    genetic disorder 52.1 6 12788105 (1), 19429107 (1), 18405001 (1)
    neurodegenerative diseases 33.3 3 16125677 (1), 17206408 (1)
    necrosis 3.76 3 10893415 (1), 12058026 (1)
    asthma 0 4 11281413 (1), 11747609 (1), 12774215 (1)
    rheumatoid arthritis 0 1 19262425 (1)

    GeneTests: IKBKAP
    GeneReviews: IKBKAP
    Genetic Association Database (GAD): IKBKAP
    Human Genome Epidemiology (HuGE) Navigator: IKBKAP (18 documents)

    Export disorders for IKBKAP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for IKBKAP gene, integrated from 10 sources (see all 114):
    (articles sorted by number of sources associating them with IKBKAP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. (PubMed id 11179008)1, 2, 3, 9 Slaugenhaupt S.A.... Gusella J.F. (Am. J. Hum. Genet. 2001)
    2. IKAP is a scaffold protein of the IkappaB kinase complex. (PubMed id 9751059)1, 2, 3 Cohen L.... Baeuerle P.A. (Nature 1998)
    3. The role of the IKAP gene polymorphisms in atopic diseases in the middle European population. (PubMed id 12774215)1, 4, 9 SchA1ller M....VA!cha J. (J. Hum. Genet. 2003)
    4. Familial dysautonomia is caused by mutations of the IKAP gene. (PubMed id 11179021)1, 2, 9 Anderson S.L.... Rubin B.Y. (Am. J. Hum. Genet. 2001)
    5. Fine mapping of the 9q31 Hirschsprung's disease locus. (PubMed id 20361209)1, 4, 9 Tang C.S....Garcia-BarcelA^ M.M. (Hum. Genet. 2010)
    6. Purification and characterization of the human elongator complex. (PubMed id 11714725)1, 2, 9 Hawkes N.A.... Svejstrup J.Q. (J. Biol. Chem. 2002)
    7. Investigation of genetic variants within candidate genes of the TNFRSF1B signalling pathway on the response to anti-TNF agents in a UK cohort of rheumatoid arthritis patients. (PubMed id 19262425)1, 4, 9 Bowes J.D....Barton A. (Pharmacogenet. Genomics 2009)
    8. Genetic variation in the nuclear factor kappaB pathway in relation to susceptibility to rheumatoid arthritis. (PubMed id 18434448)1, 4, 9 Dieguez-Gonzalez R....Gonzalez A. (Ann. Rheum. Dis. 2009)
    9. Genes for hereditary sensory and autonomic neuropathies: a genotype- phenotype correlation. (PubMed id 19651702)1, 4, 9 Rotthier A.... Timmerman V. (Brain 2009)
    10. Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension. (PubMed id 17137217)1, 4, 9 Kokubo Y....Miyata T. (Hypertens. Res. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 8518 HGNC: 5959 AceView: IKBKAP Ensembl:ENSG00000070061 euGenes: HUgn8518
    ECgene: IKBKAP H-InvDB: IKBKAP

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for IKBKAP Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=IKBKAP[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for IKBKAP gene:
    Search GeneIP for patents involving IKBKAP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for IKBKAP   OriGene RNAi products in human, mouse, rat for IKBKAP  
     OriGene qPCR primer pairs and template standards for IKBKAP   OriGene Protein Over-expression Lysate for IKBKAP  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for IKBKAP  
     OriGene qSTAR qPCR primer pairs in human, mouse for IKBKAP   OriGene Purified Protein for IKBKAP  
     OriGene ORF clones in mouse, rat for IKBKAP   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for IKBKAP   OriGene Custom Protein Services for IKBKAP  

     
     
     Block miRNA regulation of human, mouse, rat IKBKAP using miScript Target Protectors SeqTarget long-range PCR primers for resequencing IKBKAP
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IKBKAP Predesigned siRNA for gene silencing in human, mouse, rat IKBKAP
     QuantiFast Probe-based Assays in human, mouse, rat IKBKAP QuantiTect SYBR Green Assays in human, mouse, rat IKBKAP
     PCR Arrays including human, mouse, rat IKBKAP Search Chromatin IP Primers for IKBKAP
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat IKBKAP  GeneGlobe Interaction Network for IKBKAP
     Regulatory tfbs in IKBKAP promoter
     GenScript Custom Purified and Recombinant Proteins Services for IKBKAP GenScript cDNA clones with any tag delivered in your preferred vector for IKBKAP
     GenScript Custom Assay Services for IKBKAP GenScript Custom overexpressing Cell Line Services for IKBKAP
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Antibodies & Assays for IKBKAP 

     Search Tocris compounds for IKBKAP (ELP1)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     IKBKAP antibodies
     IKBKAP proteins
     IKBKAP lysates
     Antibodies for IKBKAP
     See all of Abcam's Antibodies, Kits and Proteins for IKBKAP
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.



     Browse ESI BIO Cell Lines and PureStem Progenitors for IKBKAP
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IKBKAP
     SwitchGear 3'UTR luciferase reporter plasmids for IKBKAP
     SwitchGear Promoter luciferase reporter plasmids for IKBKAP
     ThermoFisher Antibodies for IKBKAP
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IKBKAP
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for IKBKAP
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for IKBKAP
     LSBio Antibodies in human, mouse, rat for IKBKAP
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for IKBKAP
      Search eBioscience for proteins for IKBKAP
      Search eBioscience for elisas for IKBKAP
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      IKBKAP gene at Home site.
    Version: 3.12.212 17 Sep 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4