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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NAB1 Gene

protein-coding   GIFtS: 57
GCID: GC02P191477

NGFI-A Binding Protein 1 (EGR1 Binding Protein 1)

  See 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

Aliases
NGFI-A Binding Protein 1 (EGR1 Binding Protein 1)1 2
EGR1 Binding Protein 11 2
Transcriptional Regulatory Protein P542 3
EGR-1-Binding Protein 12 3
NGFI-A-Binding Protein 12

External Ids:    HGNC: 76261   Entrez Gene: 46642   Ensembl: ENSG000001383867   OMIM: 6008005   UniProtKB: Q135063   

Export aliases for NAB1 gene to outside databases

Previous GC identifers: GC02P189718 GC02P190226 GC02P191716 GC02P191339 GC02P191222 GC02P183373


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

GeneCards Summary for NAB1 Gene: 
NAB1 (NGFI-A binding protein 1 (EGR1 binding protein 1)) is a protein-coding gene. Diseases associated with NAB1 include charcot-marie-tooth disease type 1, and loeys-dietz syndrome. GO annotations related to this gene include transcription factor binding. An important paralog of this gene is NAB2.

UniProtKB/Swiss-Prot: NAB1_HUMAN, Q13506
Function: Acts as a transcriptional repressor for zinc finger transcription factors EGR1 and EGR2 (By similarity)

Gene Wiki entry for NAB1 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_005403.17  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NAB1 gene promoter:
         AML1a   ATF-2   CUTL1   HNF-3beta   c-Ets-1   CRE-BP1   HOXA5   Msx-1   LyF-1   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNAB1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NAB1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NAB1


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

Entrez Gene cytogenetic band: 2q32.3-q33   Ensembl cytogenetic band:  2q32.2   HGNC cytogenetic band: 2q32.3-q33

NAB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NAB1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P191477:  view genomic region     (about GC identifiers)

Start:
191,511,472 bp from pter      End:
191,557,492 bp from pter
Size:
46,021 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NAB1_HUMAN, Q13506 (See protein sequence)
Recommended Name: NGFI-A-binding protein 1  
Size: 487 amino acids; 54401 Da
Subunit: Homomultimers may associate with EGR1 bound to DNA (By similarity)
Subcellular location: Nucleus (By similarity)
1 PDB 3D structure from and Proteopedia for NAB1:
2YUF (3D)    
Secondary accessions: O75383 O75384 Q6GTU1 Q9UEV1
Alternative splicing: 2 isoforms:  Q13506-1   Q13506-2   

Explore the universe of human proteins at neXtProt for NAB1: NX_Q13506

Explore proteomics data for NAB1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13506

  • NAB1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NAB1 Protein Expression
    REFSEQ proteins: NP_005957.2  
    ENSEMBL proteins: 
     ENSP00000388301   ENSP00000404104   ENSP00000397014   ENSP00000387089   ENSP00000336894  
     ENSP00000403243   ENSP00000395444   ENSP00000386682   ENSP00000390914   ENSP00000349749  
     ENSP00000445304  

    Human Recombinant Protein Products for NAB1: 
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    OriGene Purified Protein for NAB1
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    OriGene MassSpec for NAB1 
    OriGene Custom Protein Services for NAB1
    GenScript Custom Purified and Recombinant Proteins Services for NAB1
    Novus Biologicals NAB1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NAB1 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS8668170

    NAB1 for ontologies           About GeneDecksing



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    LSBio Antibodies in human, mouse, rat for NAB1 

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    Cloud-Clone Corp. ELISAs for NAB1 
    Cloud-Clone Corp. CLIAs for NAB1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR006988 Nab_N
     IPR006989 NAB_co-repressor_dom
     IPR006986 Nab1_C

    Graphical View of Domain Structure for InterPro Entry Q13506

    ProtoNet protein and cluster: Q13506

    1 Blocks protein domain: IPB006986 Nab1

    UniProtKB/Swiss-Prot: NAB1_HUMAN, Q13506
    Domain: The NAB conserved domain 1 (NCD1) interacts with EGR1 inhibitory domain and mediates multimerization
    Domain: The NAB conserved domain 2 (NCD2) is necessary for transcriptional repression
    Similarity: Belongs to the NAB family


    NAB1 for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NAB1_HUMAN, Q13506
    Function: Acts as a transcriptional repressor for zinc finger transcription factors EGR1 and EGR2 (By similarity)

         Genatlas biochemistry entry for NAB1:
    NGFI-A (nerve growth factor induced clone A) binding protein 1 (EGR1 binding protein) also repressor of EGR2

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008134transcription factor binding IEA--
         
    NAB1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for NAB1:
     Decreased Hepatitis C virus re  Increased gamma-H2AX phosphory 

         10 MGI mutant phenotypes (inferred from 1 allele(MGI details for Nab1):
     behavior/neurological  cellular  growth/size  integument  mortality/aging 
     nervous system  normal  reproductive system  respiratory system  skeleton 

    NAB1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Nab1tm1Jmi for NAB1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for NAB1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NAB1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NAB1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NAB1 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NAB1
    8/74 QIAGEN miScript miRNA Assays for microRNAs that regulate NAB1 (see all 74):
    hsa-miR-323-3p hsa-miR-607 hsa-miR-1224-3p hsa-miR-411 hsa-miR-128 hsa-miR-1245 hsa-miR-200a hsa-miR-578
    SwitchGear 3'UTR luciferase reporter plasmidNAB1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for NAB1
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    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for NAB1
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NAB1
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                         Customized lentivirus expression plasmids for stable overexpression of NAB1 

    Cell Line
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    Search LifeMap BioReagents cell lines for NAB1
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NAB1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NAB1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Integrated Breast Cancer Pathway
    Integrated Breast Cancer Pathway


    1 BioSystems Pathway for NAB1
        Integrated Breast Cancer Pathway


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NAB1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/8 Interacting proteins for NAB1 (Q135063 ENSP000003368944) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EGR1P181463, ENSP000002399384I2D: score=3 STRING: ENSP00000239938
    CHD4Q148393, ENSP000003495084I2D: score=1 STRING: ENSP00000349508
    EGR2P111613, ENSP000002424804I2D: score=1 STRING: ENSP00000242480
    POU2AF1Q166333I2D: score=1 
    PSMA2P257873I2D: score=1 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001958endochondral ossification IEA--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent NAS8668170
    GO:0014037Schwann cell differentiation IEA--
    GO:0042552myelination IEA--

    NAB1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NAB1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for NAB1

    1 Novoseek inferred chemical compound relationship for NAB1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gnrh 39.2 1 11591707 (1)

    Search CenterWatch for drugs/clinical trials and news about NAB1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NAB1 gene: 
    NM_005966.3  

    Unigene Cluster for NAB1:

    NGFI-A binding protein 1 (EGR1 binding protein 1)
    Hs.107474  [show with all ESTs]
    Unigene Representative Sequence: NM_005966
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000448811 ENST00000416973 ENST00000426601 ENST00000409581 ENST00000337386(uc002usb.3 uc010fsc.3 uc010fsd.3 uc002usc.3 uc010zgh.2)
    ENST00000423376 ENST00000423076 ENST00000409641 ENST00000434473 ENST00000484774
    ENST00000357215 ENST00000545490
    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NAB1
    8/74 QIAGEN miScript miRNA Assays for microRNAs that regulate NAB1 (see all 74):
    hsa-miR-323-3p hsa-miR-607 hsa-miR-1224-3p hsa-miR-411 hsa-miR-128 hsa-miR-1245 hsa-miR-200a hsa-miR-578
    SwitchGear 3'UTR luciferase reporter plasmidNAB1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for NAB1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NAB1
    Clone
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    OriGene clones in human, mouse for NAB1 (see all 7)
    OriGene ORF clones in mouse, rat for NAB1
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    GenScript: all cDNA clones in your preferred vector: NAB1 (NM_005966)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NAB1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NAB1
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    OriGene qPCR primer pairs and template standards for NAB1
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NAB1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NAB1

    Additional mRNA sequence: 

    AF045451.1 AF045452.1 AK292446.1 AK296549.1 AK313542.1 BC035724.1 U47007.1 

    12 DOTS entries:

    DT.415016  DT.95374036  DT.100777911  DT.70105379  DT.100674142  DT.95374031  DT.120967255  DT.120967271 
    DT.120967303  DT.75104531  DT.95192760  DT.95075512 

    24/181 AceView cDNA sequences (see all 181):

    BM837857 AI375834 AI424983 BI869512 AA287081 AW069478 BF197229 BM455035 
    Z43592 AA994001 BU688997 BQ900952 BE909437 CA405757 BI793037 F11652 
    AL703348 AU125407 BE041507 BM467050 AA687766 BM459972 AI424635 BX109861 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for NAB1 (see all 10)    About this scheme

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


    ECgene alternative splicing isoforms for NAB1

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NAB1 expression in normal human tissues (normalized intensities)      NAB1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAACGTTTCC
    NAB1 Expression
    About this image


    NAB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             neutrophils   
     
     Peripheral Nervous System (Nervous System)
             Myelinating Schwann Cells Peripheral Nerve Domain

    See NAB1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NAB1

    SOURCE GeneReport for Unigene cluster: Hs.107474

    UniProtKB/Swiss-Prot: NAB1_HUMAN, Q13506
    Tissue specificity: Isoform Short is found in myeloid leukemia cell line KG-1

        SABiosciences Custom PCR Arrays for NAB1
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NAB1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NAB1

    (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

    This gene was present in the common ancestor of animals.

    Orthologs for NAB1 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nab11 , 5 Ngfi-A binding protein 11, 5 87.7(n)1
    92.99(a)1
      1 (26.99 cM)5
    179361  NM_008667.31  NP_032693.21 
     524572945 
    chicken
    (Gallus gallus)
    Aves NAB11 NGFI-A binding protein 1 (EGR1 binding protein 1) 78.26(n)
    87.5(a)
      374126  NM_204268.1  NP_989599.1 
    lizard
    (Anolis carolinensis)
    Reptilia NAB16
    Uncharacterized protein
    72(a)
    1 ↔ 1
    2(134467111-134525427)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.159202 Xenopus laevis transcribed sequence with moderate similarity more 78.12(n)    BJ039057.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5646851 novel protein similar to vertebrate NGFI-A binding more 65.9(n)
    66.67(a)
      564685  NM_001123273.1  NP_001116745.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta nab6
    nab
    22(a)
    1 → many
    3L(4153618-4160932)
    worm
    (Caenorhabditis elegans)
    Secernentea mab-106
    Protein MAB-10
    21(a)
    1 → many
    II(10530409-10533506)


    ENSEMBL Gene Tree for NAB1 (if available)
    TreeFam Gene Tree for NAB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NAB1 gene
    NAB22  
    1 SIMAP similar gene for NAB1 using alignment to 10 protein entries:     NAB1_HUMAN (see all proteins):
    NAB2

    NAB1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for NAB1
    PGOHUM00000241598


    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/797 SNPs in NAB1 are shown (see all 797)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1444180361,2
    Cuntested1191523989(+) GATGCC/TTTTAT 2 A syn11Minor allele frequency- T:0.00NA 4550
    rs1877392831,2
    --191511886(+) TGCAGC/TTAAAG 1 -- us2k10--------
    rs126935821,2
    C,F,A--191511939(+) TCAACT/CACTCC 1 -- us2k18Minor allele frequency- C:0.25NA CSA WA EA 368
    rs75945181,2
    C,F,A--191511994(+) ATTATA/GTGTAT 1 -- us2k19Minor allele frequency- G:0.47NA WA EA 370
    rs133826041,2
    C,F--191512030(+) TAACAT/CGATTT 1 -- us2k16Minor allele frequency- C:0.26NA CSA WA EA 364
    rs793086391,2
    C,F--191512349(+) TTCCAC/TTTTTT 1 -- us2k12Minor allele frequency- T:0.02NA EA 240
    rs791672311,2
    C,F--191512371(+) AAATAT/CAGATT 1 -- us2k11Minor allele frequency- C:0.05NA 120
    rs723031301,2
    C--191512436(+) CTTCT-/T/TT  
            
    TTTTT
    1 -- us2k10--------
    rs2010816091,2
    --191512438(+) TTCTT-/CTTTTT 1 -- us2k10--------
    rs109314671,2
    C,F,H--191512439(+) TTCTTT/CTTTTT 1 -- us2k1 trp313Minor allele frequency- C:0.21NS EA NA 1970

    HapMap Linkage Disequilibrium report for NAB1 (191511472 - 191557492 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for NAB1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv3082CNV Insertion18451855
    nsv834492CNV Gain17160897

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600800    OMIM disorders: --

    10 diseases for NAB1:    About MalaCards
    charcot-marie-tooth disease type 1    loeys-dietz syndrome    charcot-marie-tooth disease    tooth disease
    primary biliary cirrhosis    peripheral neuropathy    neuropathy    myeloid leukemia
    leukemia    breast cancer

    3 diseases from the University of Copenhagen DISEASES database for NAB1:
    Charcot-Marie-Tooth disease type 1     Loeys-Dietz syndrome     Charcot-Marie-Tooth disease type 3

    NAB1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): NAB1
    Human Genome Epidemiology (HuGE) Navigator: NAB1 (1 document)

    Export disorders for NAB1 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

    PubMed articles for NAB1 gene, integrated from 9 sources (see all 32):
    (articles sorted by number of sources associating them with NAB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. NAB2, a corepressor of NGFI-A (Egr-1) and Krox20, is induced by proliferative and differentiative stimuli. (PubMed id 8668170)1, 2, 3, 9 Svaren J....Milbrandt J. (1996)
    2. Genome-wide association study identifies 12 new susce ptibility loci for primary biliary cirrhosis. (PubMed id 21399635)1, 4 Mells G.F....Anderson C.A. (2011)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (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. (2004)
    7. Nab1, a corepressor of NGFI-A (Egr-1), contains an active transcriptional repression domain. (PubMed id 9418898)1, 3 Swirnoff A.H....Milbrandt J. (1998)
    8. Identification of NAB1, a repressor of NGFI-A- and Krox20-mediated transcription. (PubMed id 7624335)1, 3 Russo M.W....Milbrandt J. (1995)
    9. The human transcriptional repressor protein NAB1: expression and biological activity. (PubMed id 11018254)1, 9 Thiel G....Cramer M. (2000)
    10. Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies. (PubMed id 12030330)1, 9 Venken K....Svaren J. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 4664 HGNC: 7626 AceView: NAB1 Ensembl:ENSG00000138386 euGenes: HUgn4664
    ECgene: NAB1 H-InvDB: NAB1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NAB1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NAB1 gene:
    Search GeneIP for patents involving NAB1

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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