ARHGAP36
entrez
158763
canonical
uniprot
Q6ZRI8
canonical
ensembl
ENSG00000147256
resolver
ensp
ENSP00000276211
resolver
ensp
ENSP00000359960
resolver
ensp
ENSP00000642918
resolver
ensp
ENSP00000642919
resolver
genesymbol
ARHGAP36
resolver
hgnc
HGNC:26388
resolver
uniprot
B7Z234
resolver
uniprot
B7Z439
resolver
uniprot
Q5JRL9
resolver
uniprot
Q5JRM0
resolver
uniprot
Q5JRM1
resolver
uniprot
Q96NU6
resolver
uniprot_entry
RHG36_HUMAN
resolver
uniprot_sec
B7Z234
resolver
uniprot_sec
B7Z439
resolver
uniprot_sec
Q5JRL9
resolver
uniprot_sec
Q5JRM0
resolver
uniprot_sec
Q5JRM1
resolver
uniprot_sec
Q96NU6
resolver
amino_acid_sequence
MGGCIPFLKAARALCPRIMPPLLLLSAFIFLVSVLGGAPGHNPDRRTKMVSIHSLSELERLKLQETAYHELVARHFLSEFKPDRALPIDRPNTLDKWFLILRGQQRAVSHKTFGISLEEVLVNEFTRRKHLELTATMQVEEATGQAAGRRRGNVVRRVFGRIRRFFSRRRNEPTLPREFTRRGRRGAVSVDSLAELEDGALLLQTLQLSKISFPIGQRLLGSKRKMSLNPIAKQIPQVVEACCQFIEKHGLSAVGIFTLEYSVQRVRQLREEFDQGLDVVLDDNQNVHDVAALLKEFFRDMKDSLLPDDLYMSFLLTATLKPQDQLSALQLLVYLMPPCHSDTLERLLKALHKITENCEDSIGIDGQLVPGNRMTSTNLALVFGSALLKKGKFGKRESRKTKLGIDHYVASVNVVRAMIDNWDVLFQVPPHIQRQVAKRVWKSSPEALDFIRRRNLRKIQSARIKMEEDALLSDPVETSAEARAAVLAQSKPSDEGSSEEPAVPSGTARSHDDEEGAGNPPIPEQDRPLLRVPREKEAKTGVSYFFP
uniprot
proteins
disease_involvement
DISEASE: Bazex-Dupre-Christol syndrome (BDCS) [MIM:301845]: An X-linked dominant disorder characterized by a triad of congenital hypotrichosis, follicular atrophoderma affecting the dorsa of the hands and feet, the face and extensor surfaces of the elbows or knees, and the development of basocellular neoplasms including basal cell nevi and basal cell carcinomas from the second decade onwards. Other reported features include associated hair shaft abnormalities (pili torti and trichorrhexis nodosa) admixed with hypotrichosis, prominent milia affecting the face, hypohidrosis, pinched nose with hypoplastic nasal alae and prominent columella, atopic diathesis with comedones, keratosis pilaris, joint hypermobility, lingua plicata and hyperpigmentation of the forehead. {ECO:0000269|PubMed:35986704}. Note=The gene represented in this entry may be involved in disease pathogenesis. In patients with Bazex-Dupre-Christol syndrome, ARHGAP36 is overexpressed in hair follicles during telogen, in basal cell carcinomas, and in trichoepitheliomas. This is due to small duplications in an intergenic region on chromosome Xq26 that harbor non-coding enhancer elements that control ARHGAP36 expression, and are responsible for disease development. {ECO:0000269|PubMed:35986704}.
uniprot
proteins
function
FUNCTION: GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. {ECO:0000250}.
uniprot
proteins
mass_dalton
61664
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
35986704
uniprot
proteins
sequence_length
547
uniprot
proteins