RIT1
entrez
6016
canonical
uniprot
Q92963
canonical
ensembl
ENSG00000143622
resolver
ensp
ENSP00000357305
resolver
ensp
ENSP00000357306
resolver
ensp
ENSP00000441950
resolver
genesymbol
RIT1
resolver
genesymbol_syn
RIBB
resolver
genesymbol_syn
RIT
resolver
genesymbol_syn
ROC1
resolver
hgnc
HGNC:10023
resolver
uniprot
B4DQE8
resolver
uniprot
O00646
resolver
uniprot
O00720
resolver
uniprot
Q5VY89
resolver
uniprot
Q5VY90
resolver
uniprot_entry
RIT1_HUMAN
resolver
uniprot_sec
B4DQE8
resolver
uniprot_sec
O00646
resolver
uniprot_sec
O00720
resolver
uniprot_sec
Q5VY89
resolver
uniprot_sec
Q5VY90
resolver
activity_regulation
ACTIVITY REGULATION: Alternates between an inactive form bound to GDP and an active form bound to GTP (PubMed:10545207). {ECO:0000269|PubMed:10545207}.
uniprot
proteins
amino_acid_sequence
MDSGTRPVGSCCSSPAGLSREYKLVMLGAGGVGKSAMTMQFISHRFPEDHDPTIEDAYKIRIRIDDEPANLDILDTAGQAEFTAMRDQYMRAGEGFIICYSITDRRSFHEVREFKQLIYRVRRTDDTPVVLVGNKSDLKQLRQVTKEEGLALAREFSCPFFETSAAYRYYIDDVFHALVREIRRKEKEAVLAMEKKSKPKNSVWKRLKSPFRKKKDSVT
uniprot
proteins
disease_involvement
DISEASE: Noonan syndrome 8 (NS8) [MIM:615355]: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. {ECO:0000269|PubMed:23791108, ECO:0000269|PubMed:25959749}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.5.2
uniprot
proteins
function
FUNCTION: Plays a crucial role in coupling nerve growth factor (NGF) stimulation to the activation of both EPHB2 and MAPK14 signaling pathways and in NGF-dependent neuronal differentiation (PubMed:15632082). Involved in ELK1 transactivation through the Ras-MAPK signaling cascade that mediates a wide variety of cellular functions, including cell proliferation, survival, and differentiation (PubMed:23791108). Recognized by LZTR1, which mediates its ubiquitination by a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex (PubMed:40934300). {ECO:0000269|PubMed:15632082, ECO:0000269|PubMed:23791108, ECO:0000269|PubMed:40934300}.
uniprot
proteins
mass_dalton
25145
uniprot
proteins
mutagenesis
MUTAGEN 35; /note="S->N: Dominant negative. Loss of interaction with AFDN, RLF and RALGDS."; /evidence="ECO:0000269|PubMed:10545207"; MUTAGEN 53; /note="T->A: Increases affinity for LZTR1."; /evidence="ECO:0000269|PubMed:40934300"; MUTAGEN 53; /note="T->S: Loss of interaction with AFDN, RLF and RALGDS; when associated with L-79."; /evidence="ECO:0000269|PubMed:10545207"; MUTAGEN 54; /note="I->A: Abolishes interaction with LZTR1."; /evidence="ECO:0000269|PubMed:40934300"; MUTAGEN 55; /note="E->G: Loss of interaction with AFDN, but not with RLF and RALGDS; when associated with L-79."; /evidence="ECO:0000269|PubMed:10545207"; MUTAGEN 56; /note="D->A: Abolishes interaction with LZTR1."; /evidence="ECO:0000269|PubMed:40934300"; MUTAGEN 79; /note="Q->L: Constitutively active. Dramatic reduction of the rate of GTP hydrolysis. Loss of interaction with AFDN, RLF and RALGDS; when associated with S-53. Loss of interaction with AFDN; when associated with G-55."; /evidence="ECO:0000269|PubMed:10545207"; MUTAGEN 85; /note="M->A: Abolishes interaction with LZTR1."; /evidence="ECO:0000269|PubMed:40934300"; MUTAGEN 88; /note="Q->A: Abolishes interaction with LZTR1."; /evidence="ECO:0000269|PubMed:40934300
uniprot
proteins
protein_family
Ras family
uniprot
proteins
protein_family
Small GTPase superfamily
uniprot
proteins
pubmed
10545207
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15632082
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
23791108
uniprot
proteins
pubmed
25959749
uniprot
proteins
pubmed
40934300
uniprot
proteins
pubmed
8824319
uniprot
proteins
pubmed
8918462
uniprot
proteins
sequence_length
219
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane.
uniprot
proteins