GRIP1
entrez
23426
canonical
uniprot
Q9Y3R0
canonical
ensembl
ENSG00000155974
resolver
ensp
ENSP00000352780
resolver
ensp
ENSP00000381098
resolver
ensp
ENSP00000439053
resolver
ensp
ENSP00000446047
resolver
ensp
ENSP00000513025
resolver
enst
ENST00000696989
resolver
genesymbol
GRIP1
resolver
hgnc
HGNC:18708
resolver
uniprot
A0A8V8TLS6
resolver
uniprot
C9JT59
resolver
uniprot
Q1RLM0
resolver
uniprot_entry
A0A8V8TLS6_HUMAN
resolver
uniprot_entry
GRIP1_HUMAN
resolver
uniprot_sec
C9JT59
resolver
uniprot_sec
Q1RLM0
resolver
amino_acid_sequence
MIAVSFKCRCQILRRLTKDESPYTKSASQTKPPDGALAVRRQSIPEEFKGSTVVELMKKEGTTLGLTVSGGIDKDGKPRVSNLRQGGIAARSDQLDVGDYIKAVNGINLAKFRHDEIISLLKNVGERVVLEVEYELPPVSVQGSSVIFRTVEVTLHKEGNTFGFVIRGGAHDDRNKSRPVVITCVRPGGPADREGTIKPGDRLLSVDGIRLLGTTHAEAMSILKQCGQEAALLIEYDVSVMDSVATASGPLLVEVAKTPGASLGVALTTSMCCNKQVIVIDKIKSASIADRCGALHVGDHILSIDGTSMEYCTLAEATQFLANTTDQVKLEILPHHQTRLALKGPDHVKIQRSDRQLTWDSWASNHSSLHTNHHYNTYHPDHCRVPALTFPKAPPPNSPPALVSSSFSPTSMSAYSLSSLNMGTLPRSLYSTSPRGTMMRRRLKKKDFKSSLSLASSTVGLAGQVVHTETTEVVLTADPVTGFGIQLQGSVFATETLSSPPLISYIEADSPAERCGVLQIGDRVMAINGIPTEDSTFEEASQLLRDSSITSKVTLEIEFDVAESVIPSSGTFHVKLPKKHNVELGITISSPSSRKPGDPLVISDIKKGSVAHRTGTLELGDKLLAIDNIRLDNCSMEDAVQILQQCEDLVKLKIRKDEDNSDEQESSGAIIYTVELKRYGGPLGITISGTEEPFDPIIISSLTKGGLAERTGAIHIGDRILAINSSSLKGKPLSEAIHLLQMAGETVTLKIKKQTDAQSASSPKKFPISSHLSDLGDVEEDSSPAQKPGKLSDMYPSTVPSVDSAVDSWDGSAIDTSYGTQGTSFQASGYNFNTYDWRSPKQRGSLSPVTKPRSQTYPDVGLSYEDWDRSTASGFAGAADSAETEQEENFWSQALEDLETCGQSGILRELEEKADRRVSLRNMTLLATIMSGSTMSLNHEAPTPRSQLGRQASFQERSSSRPHYSQTTRSNTLPSDVGRKSVTLRKMKQEIKEIMSPTPVELHKVTLYKDSDMEDFGFSVADGLLEKGVYVKNIRPAGPGDLGGLKPYDRLLQVNHVRTRDFDCCLVVPLIAESGNKLDLVISRNPLASQKSIDQQSLPGDWSEQNSAFFQQPSHGGNLETREPTNTL
uniprot
proteins
disease_involvement
DISEASE: Fraser syndrome 3 (FRASRS3) [MIM:617667]: A form of Fraser syndrome, an autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, and urogenital abnormalities including renal agenesis or hypoplasia. Additional features include abnormalities of the larynx, ear malformations, and facial abnormalities. {ECO:0000269|PubMed:22510445}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May play a role as a localized scaffold for the assembly of a multiprotein signaling complex and as mediator of the trafficking of its binding partners at specific subcellular location in neurons (PubMed:10197531). Through complex formation with NSG1, GRIA2 and STX12 controls the intracellular fate of AMPAR and the endosomal sorting of the GRIA2 subunit toward recycling and membrane targeting (By similarity). {ECO:0000250|UniProtKB:P97879, ECO:0000269|PubMed:10197531}.
uniprot
proteins
mass_dalton
122422
uniprot
proteins
pubmed
10197531
uniprot
proteins
pubmed
11641419
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
22510445
uniprot
proteins
pubmed
24488492
uniprot
proteins
sequence_length
1128
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasmic vesicle {ECO:0000269|PubMed:10197531}. Perikaryon {ECO:0000250|UniProtKB:P97879}. Cell projection, dendrite {ECO:0000250|UniProtKB:P97879}. Cytoplasm {ECO:0000250|UniProtKB:P97879}. Endomembrane system {ECO:0000250|UniProtKB:P97879}; Peripheral membrane protein {ECO:0000250|UniProtKB:P97879}. Postsynaptic cell membrane {ECO:0000250|UniProtKB:P97879}. Postsynaptic density {ECO:0000250|UniProtKB:P97879}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:10197531}; Peripheral membrane protein {ECO:0000250|UniProtKB:P97879}. Note=Membrane-associated with vesicles, peri-Golgi complexes and endoplasmic reticulum. Enriched in postsynaptic plasma membrane and postsynaptic densities. {ECO:0000250|UniProtKB:P97879}.
uniprot
proteins