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

Gene ID: 139716, updated on 13-Mar-2020

Summary

Official Symbol
GAB3provided by HGNC
Official Full Name
GRB2 associated binding protein 3provided by HGNC
Primary source
HGNC:HGNC:17515
See related
Ensembl:ENSG00000160219 MIM:300482
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]
Expression
Broad expression in spleen (RPKM 7.6), bone marrow (RPKM 4.4) and 22 other tissues See more
Orthologs

Genomic context

See GAB3 in Genome Data Viewer
Location:
Xq28
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (154675249..154751566, 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 Sharpr-MPRA regulatory region 12525 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

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
macrophage differentiation IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
GRB2-associated-binding protein 3
Names
DOS/Gab family member 3
GRB2-associated binder 3
Gab3 scaffolding protein
growth factor receptor bound protein 2-associated protein 3

NCBI Reference Sequences (RefSeq)

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
    4997..80825
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001081573.3NP_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
    Consensus CDS
    CCDS48198.1
    UniProtKB/Swiss-Prot
    Q8WWW8
    Related
    ENSP00000399588.2, ENST00000424127.3
    Conserved Domains (2) summary
    cd13385
    Location:1125
    PH_Gab3; Grb2-associated binding protein 3 pleckstrin homology (PH) domain
    pfam00169
    Location:7116
    PH; PH domain
  2. NM_001282283.2NP_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
    ENSP00000358581.4, ENST00000369568.8
    Conserved Domains (2) summary
    cd13385
    Location:1125
    PH_Gab3; Grb2-associated binding protein 3 pleckstrin homology (PH) domain
    pfam00169
    Location:7116
    PH; PH domain
  3. NM_080612.4NP_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
    ENSP00000358588.3, ENST00000369575.7
    Conserved Domains (2) summary
    cd13385
    Location:1125
    PH_Gab3; Grb2-associated binding protein 3 pleckstrin homology (PH) domain
    pfam00169
    Location:7116
    PH; PH domain

RNA

  1. NR_104114.2 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
    Related
    ENST00000496390.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    154675249..154751566 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531106.1XP_011529408.1  GRB2-associated-binding protein 3 isoform X5

    Conserved Domains (2) summary
    cd13385
    Location:1125
    PH_Gab3; Grb2-associated binding protein 3 pleckstrin homology (PH) domain
    pfam00169
    Location:7116
    PH; PH domain
  2. XM_011531105.1XP_011529407.1  GRB2-associated-binding protein 3 isoform X4

    Conserved Domains (2) summary
    cd13385
    Location:1125
    PH_Gab3; Grb2-associated binding protein 3 pleckstrin homology (PH) domain
    pfam00169
    Location:7116
    PH; PH domain
  3. XM_017029276.1XP_016884765.1  GRB2-associated-binding protein 3 isoform X2

  4. XM_011531103.1XP_011529405.1  GRB2-associated-binding protein 3 isoform X1

    Conserved Domains (2) summary
    cd13385
    Location:1125
    PH_Gab3; Grb2-associated binding protein 3 pleckstrin homology (PH) domain
    pfam00169
    Location:7116
    PH; PH domain
  5. XM_005274648.1XP_005274705.1  GRB2-associated-binding protein 3 isoform X3

    See identical proteins and their annotated locations for XP_005274705.1

    UniProtKB/Swiss-Prot
    Q8WWW8
    Conserved Domains (2) summary
    cd13385
    Location:1125
    PH_Gab3; Grb2-associated binding protein 3 pleckstrin homology (PH) domain
    pfam00169
    Location:7116
    PH; PH domain
  6. XM_006724804.1XP_006724867.1  GRB2-associated-binding protein 3 isoform X3

    See identical proteins and their annotated locations for XP_006724867.1

    UniProtKB/Swiss-Prot
    Q8WWW8
    Conserved Domains (2) summary
    cd13385
    Location:1125
    PH_Gab3; Grb2-associated binding protein 3 pleckstrin homology (PH) domain
    pfam00169
    Location:7116
    PH; PH domain

RNA

  1. XR_938505.1 RNA Sequence

  2. XR_001755655.1 RNA Sequence

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