GRAP

Protein identityUniProt · HPA

UniProt accession

Q13588

Gene

GRAP

Ensembl

ENSG00000154016

Chromosome

17

Canonical length

217 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins

Subcellular location

Centrosome

OverviewNCBI Gene

This gene encodes a member of the GRB2/Sem5/Drk family and functions as a cytoplasmic signaling protein which contains an SH2 domain flanked by two SH3 domains. The SH2 domain interacts with ligand-activated receptors for stem cell factor and erythropoietin, and facilitates the formation of a stable complex with the BCR-ABL oncoprotein. This protein also associates with the Ras guanine nucleotide exchange factor SOS1 (son of sevenless homolog 1) through its N-terminal SH3 domain. In general, it couples signals from receptor and cytoplasmic tyrosine kinases to the Ras signaling pathway. [provided by RefSeq, Jul 2012]

Canonical amino-acid sequenceUniProt

217 residues, UniProt reviewed canonical sequence.

>Q13588|GRAP
     1  MESVALYSFQ ATESDELAFN KGDTLKILNM EDDQNWYKAE LRGVEGFIPK NYIRVKPHPW
    61  YSGRISRQLA EEILMKRNHL GAFLIRESES SPGEFSVSVN YGDQVQHFKV LREASGKYFL
   121  WEEKFNSLNE LVDFYRTTTI AKKRQIFLRD EEPLLKSPGA CFAQAQFDFS AQDPSQLSFR
   181  RGDIIEVLER PDPHWWRGRS CGRVGFFPRS YVQPVHL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GRAP can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.31

Highest tissue expression

50 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GRAP.

Disease | AllUniProt

Conditions GRAP is implicated in, by any mechanism.

• Deafness, autosomal recessive, 114 (DFNB114) MIM:618456

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 22 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hearing loss, autosomal recessive 114

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.22

gnomAD pLI

0.11

gnomAD missense Z

1.14

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cell-cell signaling
• Ras protein signal transduction
• regulation of MAPK cascade
• sensory perception of sound
• signal transduction

Molecular functions

• epidermal growth factor receptor binding
• phosphotyrosine residue binding

Cellular components

• COP9 signalosome
• cytoplasm
• cytosol
• nucleoplasm
• plasma membrane
• presynapse

Protein domainsUniProt · Pfam · InterPro

• SH2 domain
• SH3 domain
• GRAP, N-terminal SH3 domain
• SH3-like domain superfamily
• SH2 domain superfamily
• Grb2-like
• SH2 domain
• SH3 domain

KeywordsUniProt

• Deafness
• Membrane
• Non-syndromic deafness
• Repeat
• SH2 domain
• SH3 domain
• Synapse

InteractionsUniProt · HPA

Protein binding partners of GRAP in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• SHB
• LAT