GRAP
entrez
10750
canonical
uniprot
Q13588
canonical
ensembl
ENSG00000154016
resolver
ensp
ENSP00000284154
resolver
ensp
ENSP00000459833
resolver
enst
ENST00000284154
resolver
enst
ENST00000573099
resolver
genesymbol
GRAP
resolver
hgnc
HGNC:4562
resolver
uniprot
I3L2P9
resolver
uniprot_entry
GRAP_HUMAN
resolver
uniprot_entry
I3L2P9_HUMAN
resolver
amino_acid_sequence
MESVALYSFQATESDELAFNKGDTLKILNMEDDQNWYKAELRGVEGFIPKNYIRVKPHPWYSGRISRQLAEEILMKRNHLGAFLIRESESSPGEFSVSVNYGDQVQHFKVLREASGKYFLWEEKFNSLNELVDFYRTTTIAKKRQIFLRDEEPLLKSPGACFAQAQFDFSAQDPSQLSFRRGDIIEVLERPDPHWWRGRSCGRVGFFPRSYVQPVHL
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal recessive, 114 (DFNB114) [MIM:618456]: A form of non-syndromic deafness characterized by congenital profound sensorineural 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. {ECO:0000269|PubMed:30610177}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Couples signals from receptor and cytoplasmic tyrosine kinases to the Ras signaling pathway. Plays a role in the inner ear and in hearing (PubMed:30610177). {ECO:0000269|PubMed:30610177}.
uniprot
proteins
mass_dalton
25337
uniprot
proteins
protein_family
GRB2/sem-5/DRK family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
30610177
uniprot
proteins
pubmed
8647802
uniprot
proteins
pubmed
9484780
uniprot
proteins
pubmed
9489702
uniprot
proteins
sequence_length
217
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:Q08012}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q08012}. Synapse {ECO:0000250|UniProtKB:Q08012}. Note=Localizes at the presynaptic terminal. {ECO:0000250|UniProtKB:Q08012}.
uniprot
proteins