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IGBP1 Gene

protein-coding   GIFtS: 65
GCID: GC0XP069353

Immunoglobulin (CD79A) Binding Protein 1


(Previous symbol: IBP1)
  See IGBP1-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)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Immunoglobulin (CD79A) Binding Protein 11 2     Alpha 41
IBP11 2 3     ALPHA-42
Protein Alpha-42 3     B Cell Signal Transduction Molecule Alpha 42
Protein Phosphatase 2/4/6 Regulatory Subunit2 3     BA351K23.1 (Immunoglobulin Binding Protein 1 (CD79A) )2
Renal Carcinoma Antigen NY-REN-162 3     Immunoglobulin-Binding Protein 12
B-Cell Signal Transduction Molecule Alpha 42 3     Protein Phosphatase 2A, Regulatory Subunit Alpha-42
CD79a-Binding Protein 12 3     

External Ids:    HGNC: 54611   Entrez Gene: 34762   Ensembl: ENSG000000892897   OMIM: 3001395   UniProtKB: P783183   
ORGUL members:         

Export aliases for IGBP1 gene to outside databases

Previous GC identifers: GC0XP065531 GC0XP066830 GC0XP067586 GC0XP068220 GC0XP069136 GC0XP069270 GC0XP063174


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for IGBP1 Gene:
The proliferation and differentiation of B cells is dependent upon a B-cell antigen receptor (BCR) complex.
Binding of antigens to specific B-cell receptors results in a tyrosine phosphorylation reaction through the BCR
complex and leads to multiple signal transduction pathways. (provided by RefSeq, Jul 2008)

GeneCards Summary for IGBP1 Gene:
IGBP1 (immunoglobulin (CD79A) binding protein 1) is a protein-coding gene. Diseases associated with IGBP1 include agenesis of the corpus callosum with mental retardation, ocular coloboma, and micrognathia, and cavernous malformation. GO annotations related to this gene include mitogen-activated protein kinase kinase binding and protein phosphatase type 2A regulator activity.

UniProtKB/Swiss-Prot: IGBP1_HUMAN, P78318
Function: Associated to surface IgM-receptor; may be involved in signal transduction. Involved in regulation of
the catalytic activity of the phosphatases PP2A, PP4 and PP6 by protecting their partially folded catalytic
subunits from degradative polyubiquitination until they associate with regulatory subunits

Gene Wiki entry for IGBP1 Gene


(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)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NT_011651.18  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the IGBP1 gene promoter:
         RFX1   AP-1   ATF-2   MyoD   STAT3   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): IGBP1 promoter sequence
   Search Chromatin IP Primers for IGBP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IGBP1


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

Entrez Gene cytogenetic band: Xq13.1-q13.3   Ensembl cytogenetic band:  Xq13.1   HGNC cytogenetic band: Xq13.1-q13.3

IGBP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IGBP1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP069353:  view genomic region     (about GC identifiers)

Start:
69,353,299 bp from pter      End:
69,386,174 bp from pter
Size:
32,876 bases      Orientation:
plus 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.)
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UniProtKB/Swiss-Prot: IGBP1_HUMAN, P78318 (See protein sequence)
Recommended Name: Immunoglobulin-binding protein 1  
Size: 339 amino acids; 39222 Da
Subunit: Interacts with partially folded PPP2CA, but not with the fully active protein. Interacts with PPP2CB, and
with PP4 and PP6. Interacts with MID1 and MID2. Interacts with ubiquitin
1 PDB 3D structure from and Proteopedia for IGBP1:
4IYP (3D)    
Secondary accessions: Q8TAB2

Explore the universe of human proteins at neXtProt for IGBP1: NX_P78318

Explore proteomics data for IGBP1 at MOPED

Post-translational modifications: 

  • Phosphorylated (By similarity)1
  • Monoubiquitination by MID1 triggers calpain-mediated cleavage and switches IGBP1 activity from protective to
    destructive1
  • Ubiquitination2 at Lys44, Lys91, Lys241, Lys253
  • Modification sites at PhosphoSitePlus

  • See IGBP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001542.1  
    ENSEMBL proteins: 
     ENSP00000363661   ENSP00000348784  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR007304 TAP42-like

    Graphical View of Domain Structure for InterPro Entry P78318

    ProtoNet protein and cluster: P78318

    1 Blocks protein domain: IPB007304 TAP42-like protein

    UniProtKB/Swiss-Prot: IGBP1_HUMAN, P78318
    Domain: The UIM domain is required for protective effect on PP2A (By similarity)
    Similarity: Belongs to the IGBP1/TAP42 family
    Similarity: Contains 1 UIM (ubiquitin-interacting motif) repeat


    Find genes that share domains with IGBP1           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.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IGBP1_HUMAN, P78318
    Function: Associated to surface IgM-receptor; may be involved in signal transduction. Involved in regulation of
    the catalytic activity of the phosphatases PP2A, PP4 and PP6 by protecting their partially folded catalytic
    subunits from degradative polyubiquitination until they associate with regulatory subunits

         Genatlas biochemistry entry for IGBP1:
    B cell signal transduction molecule alpha 4,45kDa,expressed preferentially in heart,skeletal muscle and
    pancreas,similar to yeast TAP42 protein

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16085932
    GO:0008601protein phosphatase type 2A regulator activity IDA9647778
    GO:0031434mitogen-activated protein kinase kinase binding IEA--
         
    Find genes that share ontologies with IGBP1           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for IGBP1:
     Decreased focal adhesion (FA)   Downregulation of NF-kappaB pa  Downregulation of NF-kappaB pa 

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Igbp1):
     behavior/neurological  hematopoietic system  immune system  nervous system 

    Find genes that share phenotypes with IGBP1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for IGBP1
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    SwitchGear 3'UTR luciferase reporter plasmidIGBP1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    IGBP1_HUMAN, P78318: Cytoplasm (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton3
    cytosol3
    nucleus2
    extracellular1
    golgi apparatus1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm NAS9647778

    Find genes that share ontologies with IGBP1           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).
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    SuperPaths for IGBP1 About    
    See pathways by source

    SuperPathContained pathways About
    1Translation Insulin regulation of translation
    Translation Regulation activity of EIF4F0.44
    2Phosphatases
    Phosphatases


    Find genes that share SuperPaths with IGBP1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for IGBP1
        Phosphatases

    1 GeneGo (Thomson Reuters) Pathway for IGBP1
        Translation Regulation of EIF4F activity



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for IGBP1
    Interactions:

        GeneGlobe Interaction Network for IGBP1

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

    Selected Interacting proteins for IGBP1 (P783181, 2, 3 ENSP000003487844) via UniProtKB, MINT, STRING, and/or I2D (see all 116)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPP2CAP677751, 2, 3, ENSP000004184474EBI-1055954,EBI-712311 MINT-8434766 I2D: score=7 STRING: ENSP00000418447
    PPP2CBP627141, 3, ENSP000002211384EBI-1055954,EBI-1044367 I2D: score=4 STRING: ENSP00000221138
    PPP4CP605101, 2, 3, ENSP000002793874EBI-1055954,EBI-1046072 MINT-8208540 I2D: score=10 STRING: ENSP00000279387
    TIPRLO756631, 2, ENSP000003568074EBI-1055954,EBI-1054735 MINT-8434844 MINT-8434835 STRING: ENSP00000356807
    PPP6CO007431, 3, ENSP000003921474EBI-1055954,EBI-359751 I2D: score=4 STRING: ENSP00000392147
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IMP17438131
    GO:0007165signal transduction NAS9647778
    GO:0009966regulation of signal transduction ----
    GO:0032873negative regulation of stress-activated MAPK cascade IMP17438131
    GO:0034612response to tumor necrosis factor IMP17438131

    Find genes that share ontologies with IGBP1           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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for IGBP1



    (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 )
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    REFSEQ mRNAs for IGBP1 gene: 
    NM_001551.2  

    Unigene Cluster for IGBP1:

    Immunoglobulin (CD79A) binding protein 1
    Hs.496267  [show with all ESTs]
    Unigene Representative Sequence: AK054596
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000342206(uc004dxv.3) ENST00000356413(uc004dxw.3)
    miRNA
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    hsa-miR-514 hsa-miR-330-3p hsa-miR-514b-3p hsa-let-7f-2* hsa-miR-1272
    SwitchGear 3'UTR luciferase reporter plasmidIGBP1 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat IGBP1
      QuantiFast Probe-based Assays in human, mouse, rat IGBP1

    Additional mRNA sequence: 

    AK054596.1 AK315660.1 BC004137.2 BT006736.1 CR456782.1 Y08915.1 

    14 DOTS entries:

    DT.441847  DT.100885281  DT.100764642  DT.121286211  DT.121286183  DT.92330093  DT.91870576  DT.100701459 
    DT.100713912  DT.100885274  DT.100885276  DT.121286213  DT.91846916  DT.91702885 

    Selected AceView cDNA sequences (see all 348):

    CB215806 BM811499 AA290751 BU070477 NM_001551 BX417401 AA290750 BQ228052 
    AW651694 CB159021 BM746686 AI810326 AA583141 BE385572 BQ054144 AI300279 
    AA028061 AL040946 BM876354 BC004137 BG028398 CN481519 CN485128 BX347016 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for IGBP1 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c
    SP1:                                                                                          
    SP2:                                                                                          
    SP3:                          -     -     -     -                                             
    SP4:                                                  -                                       
    SP5:                          -                                                               


    ECgene alternative splicing isoforms for IGBP1

    (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)
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    IGBP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGTATTCCA
    IGBP1 Expression
    About this image


    IGBP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Ovary (Reproductive System)
             Primary Oocyte Primary Follicle
     
     Gonad
             Primary Oocyte Primary Follicle
    IGBP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IGBP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.496267

    UniProtKB/Swiss-Prot: IGBP1_HUMAN, P78318
    Tissue specificity: Ubiquitously expressed with highest levels in heart, skeletal muscle and pancreas

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IGBP1

    (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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for IGBP1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Igbp11 , 5 immunoglobulin (CD79A) binding protein 11, 5 86.69(n)1
    80.47(a)1
      X (43.72 cM)5
    185181  NM_008784.31  NP_032810.41 
     1004942915 
    chicken
    (Gallus gallus)
    Aves IGBP16
    immunoglobulin (CD79A) binding protein 1
    43(a)
    1 ↔ 1
    4(1191356-1195840)
    lizard
    (Anolis carolinensis)
    Reptilia IGBP16
    immunoglobulin (CD79A) binding protein 1
    47(a)
    1 ↔ 1
    GL344027.1(41192-44476)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.18092 Transcribed sequence with weak similarity to protein more 75.04(n)    141999944 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.178302 Danio rerio mRNA similar to immunoglobulin (CD79A) more 70.58(n)    BC045313.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Tap421 Two A-associated protein of 42kDa 47.35(n)
    34.58(a)
      326166  NM_165039.2  NP_723811.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y71H2B.33
    ppfr-41
    ppfr-41 29(a)3
    45.1(n)1
    33.66(a)1
      III(2691757-2694159)3
    1906171  NM_065190.41  NP_497591.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TAP42(YMR028W)4 Essential protein involved in the TOR signaling pathway; more   --   13(327482-328582) 855043  NP_013741.1 


    ENSEMBL Gene Tree for IGBP1 (if available)
    TreeFam Gene Tree for IGBP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for IGBP1 gene

    Find genes that share paralogs with IGBP1           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for IGBP1 (see all 6)
    PGOHUM00000248129 PGOHUM00000259190 PGOHUM00000237574 PGOHUM00000245612 PGOHUM00000245871


    (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)
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    Selected SNPs for IGBP1 (see all 458)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs614347431,2
    C--69352695(+) CATTC-/TTTTTT 1 -- us2k10--------
    rs726288491,2
    C,F--69358733(+) GAAGCA/GGGTGG 1 -- us2k11Minor allele frequency- G:0.00NA 1
    rs5958281,2
    C,F,A--69358947(+) agcctC/Gggtgg 1 -- us2k13Minor allele frequency- G:0.00WA NA 6
    rs37951711,2
    C,F--69359018(+) AAATGG/ACTTAC 1 -- us2k11Minor allele frequency- A:0.00NA 1
    rs726288511,2
    C--69359145(+) ACATTC/TCTAAG 1 -- us2k11Minor allele frequency- T:0.00NA 1
    rs37951721,2
    C,H--69359176(+) TTTTTC/GTTTAT 1 -- us2k1 trp34Minor allele frequency- G:0.00NS EA 418
    rs1867368851,2
    --69359472(+) TGAACG/TCAGAA 1 -- us2k10--------
    rs2006921371,2
    --69359628(+) CCTAG-/CATGGG 1 -- us2k10--------
    rs1915342351,2
    --69359948(+) AAATAC/TAATGG 1 -- us2k10--------
    rs1823673831,2
    --69360059(+) AAAAGA/CCTATC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for IGBP1 (69353299 - 69386174 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for IGBP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1584074OTHER Inversion17803354

    Human Gene Mutation Database (HGMD): IGBP1
    Locus Specific Mutation Databases (LSDB): IGBP1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing IGBP1
    DNA2.0 Custom Variant and Variant Library Synthesis for IGBP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300139   
    OMIM disorders: 300472  
    UniProtKB/Swiss-Prot: IGBP1_HUMAN, P78318
  • Mental retardation, X-linked, syndromic, 28 (MRXS28) [MIM:300472]: A mental retardation syndrome
    characterized by agenesis of the corpus callosum, coloboma of the iris and optic nerve, severe retrognathia, and
    intellectual deficit. Mental retardation is defined by significantly below average general intellectual
    functioning associated with impairments in adaptive behavior and manifested during the developmental period.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 5 diseases for IGBP1:    
    About MalaCards
    agenesis of the corpus callosum with mental retardation, ocular coloboma, and micrognathia    cavernous malformation    cerebral cavernous malformation    erythrokeratodermia variabilis
    coloboma

    1 disease from the University of Copenhagen DISEASES database for IGBP1:
    FG syndrome

    Find genes that share disorders with IGBP1           About GenesLikeMe

    Human Genome Epidemiology (HuGE) Navigator: IGBP1 (2 documents)

    Export disorders for IGBP1 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)
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    PubMed articles for IGBP1 gene, integrated from 10 sources (see all 55):
    (articles sorted by number of sources associating them with IGBP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Expression and chromosomal localization of the human alpha 4/IGBP1 gene, the structure of which is closely related to the yeast TAP42 protein of the rapamycin-sensitive signal transduction pathway. (PubMed id 9441740)1, 2, 3, 9 Onda M.... Sakaguchi N. (Genomics 1997)
    2. A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the alpha 4 gene at Xq13. (PubMed id 14556245)1, 2, 9 Graham J.M. Jr.... Cox T.C. (Am. J. Med. Genet. A 2003)
    3. Monoubiquitination promotes calpain cleavage of the protein phosphatase 2A (PP2A) regulatory subunit alpha4, altering PP2A stability and microtubule-associated protein phosphorylation. (PubMed id 22613722)1, 2 Watkins G.R.... Wadzinski B.E. (J. Biol. Chem. 2012)
    4. Alpha4 is a ubiquitin-binding protein that regulates protein serine/threonine phosphatase 2A ubiquitination. (PubMed id 20092282)1, 2 McConnell J.L.... Wadzinski B.E. (Biochemistry 2010)
    5. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. MID1 and MID2 homo- and heterodimerise to tether the rapamycin- sensitive PP2A regulatory subunit, Alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders. (PubMed id 11806752)1, 2 Short K.M.... Cox T.C. (BMC Cell Biol. 2002)
    8. Antigens recognized by autologous antibody in patients with renal- cell carcinoma. (PubMed id 10508479)1, 2 Scanlan M.J....Old L.J. (Int. J. Cancer 1999)
    9. Alpha 4 associates with protein phosphatases 2A, 4, and 6. (PubMed id 9647778)1, 2 Chen J.... Schreiber S.L. (Biochem. Biophys. Res. Commun. 1998)
    10. Low resolution structure of the human alpha4 protein (IgBP1) and studies on the stability of alpha4 and of its yeast ortholog Tap42. (PubMed id 16517231)1, 9 Smetana J.H....Zanchin N.I. (Biochim. Biophys. Acta 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 3476 HGNC: 5461 AceView: IGBP1 Ensembl:ENSG00000089289 euGenes: HUgn3476
    ECgene: IGBP1 H-InvDB: IGBP1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for IGBP1 Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for IGBP1 gene:
    Search GeneIP for patents involving IGBP1

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



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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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