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GAB3 GRB2 associated binding protein 3 [ Homo sapiens (human) ]

Gene ID: 139716, updated on 8-May-2016
Official Symbol
GAB3provided by HGNC
Official Full Name
GRB2 associated binding protein 3provided by HGNC
Primary source
HGNC:HGNC:17515
See related
Ensembl:ENSG00000160219 HPRD:06571; MIM:300482; Vega:OTTHUMG00000024245
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This gene is a member of the GRB2-associated binding protein gene family. These proteins are scaffolding/docking proteins that are involved in several growth factor and cytokine signaling pathways, and they contain a pleckstrin homology domain, and bind SHP2 tyrosine phosphatase and GRB2 adapter protein. The protein encoded by this gene facilitates macrophage differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Orthologs
Location:
Xq28
Exon count:
11
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) X NC_000023.11 (154675249..154751583, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153903526..153979855, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373387 Neighboring gene olfactory receptor family 3 subfamily B member 1 pseudogene Neighboring gene small nucleolar RNA, H/ACA box 36A Neighboring gene dyskerin pseudouridine synthase 1 Neighboring gene microRNA 664b Neighboring gene small nucleolar RNA, H/ACA box 56

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
macrophage differentiation IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
GRB2-associated-binding protein 3
Names
DOS/Gab family member 3
GRB2-associated binder 3
GRB2-associated binding protein 3
Gab3 scaffolding protein
growth factor receptor bound protein 2-associated protein 3

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012834.2 RefSeqGene

    Range
    4991..80825
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001081573.2NP_001075042.1  GRB2-associated-binding protein 3 isoform 1

    See identical proteins and their annotated locations for NP_001075042.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AA808085, AC244107, AK126283, AK307927, AY057989, HY029412
    Consensus CDS
    CCDS48198.1
    UniProtKB/Swiss-Prot
    Q8WWW8
    Related
    ENSP00000399588, OTTHUMP00000225955, ENST00000424127, OTTHUMT00000377380
    Conserved Domains (1) summary
    cd13385
    Location:1125
    PH_Gab3; Grb2-associated binding protein 3 pleckstrin homology (PH) domain
  2. NM_001282283.1NP_001269212.1  GRB2-associated-binding protein 3 isoform 3

    See identical proteins and their annotated locations for NP_001269212.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
    Source sequence(s)
    AA808085, AC244107, AK126283, AL832051, HY029412
    Consensus CDS
    CCDS65357.1
    UniProtKB/Swiss-Prot
    Q8WWW8
    Related
    ENSP00000358581, OTTHUMP00000026056, ENST00000369568, OTTHUMT00000061193
    Conserved Domains (1) summary
    cd13385
    Location:1125
    PH_Gab3; Grb2-associated binding protein 3 pleckstrin homology (PH) domain
  3. NM_080612.3NP_542179.1  GRB2-associated-binding protein 3 isoform 2

    See identical proteins and their annotated locations for NP_542179.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
    Source sequence(s)
    AA808085, AC244107, AL832051, AY057989, HY029412
    Consensus CDS
    CCDS14760.1
    UniProtKB/Swiss-Prot
    Q8WWW8
    Related
    ENSP00000358588, OTTHUMP00000026055, ENST00000369575, OTTHUMT00000061192
    Conserved Domains (1) summary
    cd13385
    Location:1125
    PH_Gab3; Grb2-associated binding protein 3 pleckstrin homology (PH) domain

RNA

  1. NR_104114.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate 5'-terminal exon and lacks an internal exon, compared to variant 1. This variant is represented as non-coding because it does not encode a supported protein.
    Source sequence(s)
    AA808085, AC244107, AL832051, AY057989, DB065120, DQ656063
    Related
    ENST00000496390

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

    Range
    154675249..154751583 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531106.1XP_011529408.1  

    Conserved Domains (1) summary
    cd13385
    Location:1125
    PH_Gab3; Grb2-associated binding protein 3 pleckstrin homology (PH) domain
  2. XM_011531105.1XP_011529407.1  

    Conserved Domains (1) summary
    cd13385
    Location:1125
    PH_Gab3; Grb2-associated binding protein 3 pleckstrin homology (PH) domain
  3. XM_011531103.1XP_011529405.1  

    Conserved Domains (1) summary
    cd13385
    Location:1125
    PH_Gab3; Grb2-associated binding protein 3 pleckstrin homology (PH) domain
  4. XM_005274648.1XP_005274705.1  

    See identical proteins and their annotated locations for XP_005274705.1

    UniProtKB/Swiss-Prot
    Q8WWW8
    Conserved Domains (1) summary
    cd13385
    Location:1125
    PH_Gab3; Grb2-associated binding protein 3 pleckstrin homology (PH) domain
  5. XM_006724804.1XP_006724867.1  

    See identical proteins and their annotated locations for XP_006724867.1

    UniProtKB/Swiss-Prot
    Q8WWW8
    Conserved Domains (1) summary
    cd13385
    Location:1125
    PH_Gab3; Grb2-associated binding protein 3 pleckstrin homology (PH) domain
  6. XM_011531104.1XP_011529406.1  

    See identical proteins and their annotated locations for XP_011529406.1

    UniProtKB/Swiss-Prot
    Q8WWW8
    Conserved Domains (1) summary
    cd13385
    Location:1125
    PH_Gab3; Grb2-associated binding protein 3 pleckstrin homology (PH) domain
  7. XM_006724806.2XP_006724869.1  

    Conserved Domains (1) summary
    cd13385
    Location:1125
    PH_Gab3; Grb2-associated binding protein 3 pleckstrin homology (PH) domain

RNA

  1. XR_938505.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 Alternate CHM1_1.1

    Range
    153815233..153891531 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)