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UniProtKB - Q13480 (GAB1_HUMAN)

Entry version 189 (07 Apr 2021)
Sequence version 2 (07 Feb 2006)
Previous versions | rss
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Protein

GRB2-associated-binding protein 1

Gene

GAB1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Adapter protein that plays a role in intracellular signaling cascades triggered by activated receptor-type kinases. Plays a role in FGFR1 signaling. Probably involved in signaling by the epidermal growth factor receptor (EGFR) and the insulin receptor (INSR). Involved in the MET/HGF-signaling pathway (PubMed:29408807).1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q13480

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-109704, PI3K Cascade
R-HSA-1236382, Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
R-HSA-1257604, PIP3 activates AKT signaling
R-HSA-180292, GAB1 signalosome
R-HSA-1963642, PI3K events in ERBB2 signaling
R-HSA-2219530, Constitutive Signaling by Aberrant PI3K in Cancer
R-HSA-5637810, Constitutive Signaling by EGFRvIII
R-HSA-5654689, PI-3K cascade:FGFR1
R-HSA-5654695, PI-3K cascade:FGFR2
R-HSA-5654710, PI-3K cascade:FGFR3
R-HSA-5654720, PI-3K cascade:FGFR4
R-HSA-5655253, Signaling by FGFR2 in disease
R-HSA-5655291, Signaling by FGFR4 in disease
R-HSA-5655302, Signaling by FGFR1 in disease
R-HSA-6811558, PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
R-HSA-8851907, MET activates PI3K/AKT signaling
R-HSA-8853334, Signaling by FGFR3 fusions in cancer
R-HSA-8853338, Signaling by FGFR3 point mutants in cancer
R-HSA-8853659, RET signaling
R-HSA-8865999, MET activates PTPN11
R-HSA-8875555, MET activates RAP1 and RAC1
R-HSA-8875656, MET receptor recycling
R-HSA-9027276, Erythropoietin activates Phosphoinositide-3-kinase (PI3K)
R-HSA-9028335, Activated NTRK2 signals through PI3K
R-HSA-9664565, Signaling by ERBB2 KD Mutants
R-HSA-9665348, Signaling by ERBB2 ECD mutants

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q13480

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q13480

Protein family/group databases

MoonDB Database of extreme multifunctional and moonlighting proteins

More...MoonDBi		Q13480, Predicted

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
GRB2-associated-binding protein 1
Alternative name(s):
GRB2-associated binder 1
Growth factor receptor bound protein 2-associated protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GAB1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 4

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:4066, GAB1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		604439, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q13480

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000109458.8

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Deafness, autosomal recessive, 26 (DFNB26)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural deafness characterized by prelingual, severe to profound hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_080809116G → E in DFNB26; results in dysregulation of MET-signaling pathway genes expression; does not affect interaction with METTL13. 1 PublicationCorresponds to variant dbSNP:rs1553950635EnsemblClinVar.1

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Diseasei

Deafness, Disease variant, Non-syndromic deafness

Organism-specific databases

DisGeNET

More...DisGeNETi		2549

MalaCards human disease database

More...MalaCardsi		GAB1
MIMi605428, phenotype

Open Targets

More...OpenTargetsi		ENSG00000109458

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA28477

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q13480, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GAB1

Domain mapping of disease mutations (DMDM)

More...DMDMi		90180201

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000502822 – 694GRB2-associated-binding protein 1Add BLAST693

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylserineCombined sources1
Modified residuei251PhosphoserineCombined sources1
Modified residuei253PhosphoserineCombined sources1
Modified residuei266PhosphoserineCombined sources1
Modified residuei304PhosphoserineCombined sources1
Modified residuei387PhosphothreonineCombined sources1
Modified residuei402PhosphoserineCombined sources1
Modified residuei454PhosphoserineBy similarity1
Modified residuei627PhosphotyrosineCombined sources1
Modified residuei638PhosphothreonineCombined sources1
Modified residuei651PhosphoserineCombined sources1
Modified residuei659PhosphotyrosineCombined sources1
Modified residuei683PhosphoserineCombined sources1
Isoform 2 (identifier: Q13480-2)
Modified residuei547PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated in response to FGFR1 activation. Phosphorylated on tyrosine residue(s) by the epidermal growth factor receptor (EGFR) and the insulin receptor (INSR). Tyrosine phosphorylation of GAB1 mediates interaction with several proteins that contain SH2 domains. Phosphorylated on tyrosine residues by HCK upon IL6 signaling.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

The CPTAC Assay portal

More...CPTACi		CPTAC-1557

Encyclopedia of Proteome Dynamics

More...EPDi		Q13480

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q13480

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q13480

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q13480

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q13480

PeptideAtlas

More...PeptideAtlasi		Q13480

PRoteomics IDEntifications database

More...PRIDEi		Q13480

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		59477 [Q13480-1]
59478 [Q13480-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q13480

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q13480

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000109458, Expressed in corpus callosum and 231 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q13480, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q13480, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000109458, Tissue enhanced (brain)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with GRB2 and with other SH2-containing proteins (PubMed:15010462).

Interacts with phosphorylated LAT2 (PubMed:12486104).

Interacts with PTPRJ (PubMed:12475979).

Identified in a complex containing FRS2, GRB2, GAB1, PIK3R1 and SOS1.

Interacts (phosphorylated) with PTPN11 (PubMed:15010462).

Interacts with HCK (PubMed:15010462).

Part of a tripartite complex containing GAB1, METTL13 and SPRY2 (PubMed:29408807).

Interacts with METTL13 (PubMed:29408807).

4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		108824, 103 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q13480

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		Q13480

Protein interaction database and analysis system

More...IntActi		Q13480, 113 interactors

Molecular INTeraction database

More...MINTi		Q13480

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000262995

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q13480, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q13480

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini5 – 116PHPROSITE-ProRule annotationAdd BLAST112

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi449 – 540Pro-richAdd BLAST92

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the GAB family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3751, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156801

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_028652_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q13480

Identification of Orthologs from Complete Genome Data

More...OMAi		EPMRTHA

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q13480

TreeFam database of animal gene trees

More...TreeFami		TF329487

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.30.29.30, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR011993, PH-like_dom_sf
IPR001849, PH_domain

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00169, PH, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00233, PH, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50003, PH_DOMAIN, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q13480-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSGGEVVCSG WLRKSPPEKK LKRYAWKRRW FVLRSGRLTG DPDVLEYYKN 
        60         70         80         90        100
DHAKKPIRII DLNLCQQVDA GLTFNKKEFE NSYIFDINTI DRIFYLVADS 
       110        120        130        140        150
EEEMNKWVRC ICDICGFNPT EEDPVKPPGS SLQAPADLPL AINTAPPSTQ 
       160        170        180        190        200
ADSSSATLPP PYQLINVPPH LETLGIQEDP QDYLLLINCQ SKKPEPTRTH 
       210        220        230        240        250
ADSAKSTSSE TDCNDNVPSH KNPASSQSKH GMNGFFQQQM IYDSPPSRAP 
       260        270        280        290        300
SASVDSSLYN LPRSYSHDVL PKVSPSSTEA DGELYVFNTP SGTSSVETQM 
       310        320        330        340        350
RHVSISYDIP PTPGNTYQIP RTFPEGTLGQ TSKLDTIPDI PPPRPPKPHP 
       360        370        380        390        400
AHDRSPVETC SIPRTASDTD SSYCIPTAGM SPSRSNTIST VDLNKLRKDA 
       410        420        430        440        450
SSQDCYDIPR AFPSDRSSSL EGFHNHFKVK NVLTVGSVSS EELDENYVPM 
       460        470        480        490        500
NPNSPPRQHS SSFTEPIQEA NYVPMTPGTF DFSSFGMQVP PPAHMGFRSS 
       510        520        530        540        550
PKTPPRRPVP VADCEPPPVD RNLKPDRKVK PAPLEIKPLP EWEELQAPVR 
       560        570        580        590        600
SPITRSFARD SSRFPMSPRP DSVHSTTSSS DSHDSEENYV PMNPNLSSED 
       610        620        630        640        650
PNLFGSNSLD GGSSPMIKPK GDKQVEYLDL DLDSGKSTPP RKQKSSGSGS 
       660        670        680        690 
SVADERVDYV VVDQQKTLAL KSTREAWTDG RQSTESETPA KSVK
Length:694
Mass (Da):76,616
Last modified:February 7, 2006 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iE0FAC78772B6677B
GO
Isoform 2 (identifier: Q13480-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     528-528: K → KGQSPKILRLKPHGLERTDSQTIGDFATRRK

Show »
Length:724
Mass (Da):80,005
Checksum:iEAA4573B9E5A25B9
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RIS0D6RIS0_HUMAN
GRB2-associated-binding protein 1
GAB1
239Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RIF8D6RIF8_HUMAN
GRB2-associated-binding protein 1
GAB1
176Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B7Z3B9B7Z3B9_HUMAN
GRB2-associated-binding protein 1
GAB1
591Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YA71H0YA71_HUMAN
GRB2-associated-binding protein 1
GAB1
91Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
D6RF42D6RF42_HUMAN
GRB2-associated-binding protein 1
GAB1
48Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y8F4H0Y8F4_HUMAN
GRB2-associated-binding protein 1
GAB1
94Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti204A → G in AAC50380 (PubMed:8596638).Curated1
Sequence conflicti213C → S in AAC50380 (PubMed:8596638).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03613283Y → C in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_080809116G → E in DFNB26; results in dysregulation of MET-signaling pathway genes expression; does not affect interaction with METTL13. 1 PublicationCorresponds to variant dbSNP:rs1553950635EnsemblClinVar.1
Natural variantiVAR_025261311P → L1 PublicationCorresponds to variant dbSNP:rs28925904Ensembl.1
Natural variantiVAR_053096377T → I. Corresponds to variant dbSNP:rs2229879Ensembl.1
Natural variantiVAR_036133387T → N in a breast cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_017137528K → KGQSPKILRLKPHGLERTDS QTIGDFATRRK in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
U43885 mRNA Translation: AAC50380.1
DQ021880 Genomic DNA Translation: AAY26398.1
AK289767 mRNA Translation: BAF82456.1
AC097658 Genomic DNA No translation available.
AC104685 Genomic DNA Translation: AAY40964.1
CH471056 Genomic DNA Translation: EAX05072.1
BC064848 mRNA Translation: AAH64848.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS3759.1 [Q13480-1]
CCDS3760.1 [Q13480-2]

Protein sequence database of the Protein Information Resource

More...PIRi		S68442

NCBI Reference Sequences

More...RefSeqi		NP_002030.2, NM_002039.3 [Q13480-1]
NP_997006.1, NM_207123.2 [Q13480-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000262994; ENSP00000262994; ENSG00000109458 [Q13480-1]
ENST00000262995; ENSP00000262995; ENSG00000109458 [Q13480-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		2549

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:2549

UCSC genome browser

More...UCSCi		uc003ijd.4, human [Q13480-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U43885 mRNA Translation: AAC50380.1
DQ021880 Genomic DNA Translation: AAY26398.1
AK289767 mRNA Translation: BAF82456.1
AC097658 Genomic DNA No translation available.
AC104685 Genomic DNA Translation: AAY40964.1
CH471056 Genomic DNA Translation: EAX05072.1
BC064848 mRNA Translation: AAH64848.1
CCDSiCCDS3759.1 [Q13480-1]
CCDS3760.1 [Q13480-2]
PIRiS68442
RefSeqiNP_002030.2, NM_002039.3 [Q13480-1]
NP_997006.1, NM_207123.2 [Q13480-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4QSYX-ray2.10B621-633[»]
SMRiQ13480
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi108824, 103 interactors
CORUMiQ13480
ELMiQ13480
IntActiQ13480, 113 interactors
MINTiQ13480
STRINGi9606.ENSP00000262995

Protein family/group databases

MoonDBiQ13480, Predicted

PTM databases

iPTMnetiQ13480
PhosphoSitePlusiQ13480

Genetic variation databases

BioMutaiGAB1
DMDMi90180201

Proteomic databases

CPTACiCPTAC-1557
EPDiQ13480
jPOSTiQ13480
MassIVEiQ13480
MaxQBiQ13480
PaxDbiQ13480
PeptideAtlasiQ13480
PRIDEiQ13480
ProteomicsDBi59477 [Q13480-1]
59478 [Q13480-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		3614, 361 antibodies

The DNASU plasmid repository

More...DNASUi		2549

Genome annotation databases

EnsembliENST00000262994; ENSP00000262994; ENSG00000109458 [Q13480-1]
ENST00000262995; ENSP00000262995; ENSG00000109458 [Q13480-2]
GeneIDi2549
KEGGihsa:2549
UCSCiuc003ijd.4, human [Q13480-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		2549
DisGeNETi2549

GeneCards: human genes, protein and diseases

More...GeneCardsi		GAB1
HGNCiHGNC:4066, GAB1
HPAiENSG00000109458, Tissue enhanced (brain)
MalaCardsiGAB1
MIMi604439, gene
605428, phenotype
neXtProtiNX_Q13480
OpenTargetsiENSG00000109458
PharmGKBiPA28477
VEuPathDBiHostDB:ENSG00000109458.8

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3751, Eukaryota
GeneTreeiENSGT00940000156801
HOGENOMiCLU_028652_0_0_1
InParanoidiQ13480
OMAiEPMRTHA
PhylomeDBiQ13480
TreeFamiTF329487

Enzyme and pathway databases

PathwayCommonsiQ13480
ReactomeiR-HSA-109704, PI3K Cascade
R-HSA-1236382, Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants
R-HSA-1257604, PIP3 activates AKT signaling
R-HSA-180292, GAB1 signalosome
R-HSA-1963642, PI3K events in ERBB2 signaling
R-HSA-2219530, Constitutive Signaling by Aberrant PI3K in Cancer
R-HSA-5637810, Constitutive Signaling by EGFRvIII
R-HSA-5654689, PI-3K cascade:FGFR1
R-HSA-5654695, PI-3K cascade:FGFR2
R-HSA-5654710, PI-3K cascade:FGFR3
R-HSA-5654720, PI-3K cascade:FGFR4
R-HSA-5655253, Signaling by FGFR2 in disease
R-HSA-5655291, Signaling by FGFR4 in disease
R-HSA-5655302, Signaling by FGFR1 in disease
R-HSA-6811558, PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
R-HSA-8851907, MET activates PI3K/AKT signaling
R-HSA-8853334, Signaling by FGFR3 fusions in cancer
R-HSA-8853338, Signaling by FGFR3 point mutants in cancer
R-HSA-8853659, RET signaling
R-HSA-8865999, MET activates PTPN11
R-HSA-8875555, MET activates RAP1 and RAC1
R-HSA-8875656, MET receptor recycling
R-HSA-9027276, Erythropoietin activates Phosphoinositide-3-kinase (PI3K)
R-HSA-9028335, Activated NTRK2 signals through PI3K
R-HSA-9664565, Signaling by ERBB2 KD Mutants
R-HSA-9665348, Signaling by ERBB2 ECD mutants
SignaLinkiQ13480
SIGNORiQ13480

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		2549, 52 hits in 993 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		GAB1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		GAB1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		2549
PharosiQ13480, Tbio

Protein Ontology

More...PROi		PR:Q13480
RNActiQ13480, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000109458, Expressed in corpus callosum and 231 other tissues
ExpressionAtlasiQ13480, baseline and differential
GenevisibleiQ13480, HS

Family and domain databases

Gene3Di2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR011993, PH-like_dom_sf
IPR001849, PH_domain
PfamiView protein in Pfam
PF00169, PH, 1 hit
SMARTiView protein in SMART
SM00233, PH, 1 hit
PROSITEiView protein in PROSITE
PS50003, PH_DOMAIN, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGAB1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q13480
Secondary accession number(s): A8K152, Q4W5G2, Q6P1W2
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: February 7, 2006
Last modified: April 7, 2021
This is version 189 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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