ARHGEF15
entrez
22899
canonical
uniprot
O94989
canonical
ensembl
ENSG00000198844
resolver
ensp
ENSP00000355026
resolver
ensp
ENSP00000412505
resolver
ensp
ENSP00000522643
resolver
enst
ENST00000361926
resolver
enst
ENST00000421050
resolver
genesymbol
ARHGEF15
resolver
genesymbol_syn
KIAA0915
resolver
hgnc
HGNC:15590
resolver
uniprot
A0A0S2Z547
resolver
uniprot
A8K6G1
resolver
uniprot
Q8N449
resolver
uniprot
Q9H8B4
resolver
uniprot_entry
A0A0S2Z547_HUMAN
resolver
uniprot_entry
ARHGF_HUMAN
resolver
uniprot_sec
A8K6G1
resolver
uniprot_sec
Q8N449
resolver
uniprot_sec
Q9H8B4
resolver
amino_acid_sequence
MSAQSLPAATPPTQKPPRIIRPRPPSRSRAAQSPGPPHNGSSPQELPRNSNDAPTPMCTPIFWEPPAASLKPPALLPPSASRASLDSQTSPDSPSSTPTPSPVSRRSASPEPAPRSPVPPPKPSGSPCTPLLPMAGVLAQNGSASAPGTVRRLAGRFEGGAEGRAQDADAPEPGLQARADVNGEREAPLTGSGSQENGAPDAGLACPPCCPCVCHTTRPGLELRWVPVGGYEEVPRVPRRASPLRTSRSRPHPPSIGHPAVVLTSYRSTAERKLLPLLKPPKPTRVRQDATIFGDPPQPDLDLLSEDGIQTGDSPDEAPQNTPPATVEGREEEGLEVLKEQNWELPLQDEPLYQTYRAAVLSEELWGVGEDGSPSPANAGDAPTFPRPPGPRNTLWQELPAVQASGLLDTLSPQERRMQESLFEVVTSEASYLRSLRLLTDTFVLSQALRDTLTPRDHHTLFSNVQRVQGVSERFLATLLSRVRSSPHISDLCDVVHAHAVGPFSVYVDYVRNQQYQEETYSRLMDTNVRFSAELRRLQSLPKCERLPLPSFLLLPFQRITRLRMLLQNILRQTEEGSSRQENAQKALGAVSKIIERCSAEVGRMKQTEELIRLTQRLRFHKVKALPLVSWSRRLEFQGELTELGCRRGGVLFASRPRFTPLCLLLFSDLLLITQPKSGQRLQVLDYAHRSLVQAQQVPDPSGPPTFRLSLLSNHQGRPTHRLLQASSLSDMQRWLGAFPTPGPLPCSPDTIYEDCDCSQELCSESSAPAKTEGRSLESRAAPKHLHKTPEGWLKGLPGAFPAQLVCEVTGEHERRRHLRQNQRLLEAVGSSSGTPNAPPP
uniprot
proteins
disease_involvement
DISEASE: Brain small vessel disease 5 with osteoporosis (BSVD5) [MIM:621331]: An autosomal dominant, adult form of brain small vessel disease, a cerebrovascular disorder with variable manifestations reflecting the location and severity of the vascular defect. BSVD5 features include cognitive decline, psychiatric disturbances, and cerebral infarctions associated with brain imaging abnormalities such as microbleeds, enlarged perivascular spaces, white matter abnormalities, and brain atrophy. Patients have osteoporosis and increased bone fracture tendency. {ECO:0000269|PubMed:36929019}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Guanine nucleotide exchange factor (GEF) that activates RhoA, playing a role in the regulation of actin cytoskeleton organization (PubMed:36929019). Is involved in the regulation of vascular smooth muscle contractility (PubMed:12775584). Additionally, it negatively regulates excitatory synapse development by suppressing the synapse-promoting activity of EPHB2 (By similarity). Does not activate RAC1 or CDC42 (PubMed:36929019). {ECO:0000250|UniProtKB:Q5FWH6, ECO:0000269|PubMed:12775584, ECO:0000269|PubMed:36929019}.
uniprot
proteins
mass_dalton
91940
uniprot
proteins
post_translational_modification
PTM: Phosphorylated on tyrosine residues upon EFNA1 stimulation. EPHB2-dependent phosphorylation at Tyr-353 triggers UBE3A-mediated ubiquitination (By similarity). {ECO:0000250}.; PTM: Ubiquitinated; UBE3A-mediated ubiquitination and degradation by the proteasome promotes EFNB1-dependent synapse formation. {ECO:0000250}.
uniprot
proteins
pubmed
10048485
uniprot
proteins
pubmed
12168954
uniprot
proteins
pubmed
12775584
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
23647072
uniprot
proteins
pubmed
36929019
uniprot
proteins
sequence_length
841
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, dendrite {ECO:0000250|UniProtKB:Q5FWH6}. Note=Expressed exclusively in dendrites of the developing hippocampus. {ECO:0000250|UniProtKB:Q5FWH6}.
uniprot
proteins