ARHGAP19
entrez
84986
canonical
uniprot
Q14CB8
canonical
ensembl
ENSG00000213390
resolver
ensembl
ENSG00000269891
resolver
ensp
ENSP00000351058
resolver
ensp
ENSP00000351333
resolver
ensp
ENSP00000360066
resolver
genesymbol
ARHGAP19
resolver
hgnc
HGNC:23724
resolver
uniprot
A1XCP1
resolver
uniprot
B4DZR1
resolver
uniprot
Q14CF2
resolver
uniprot
Q5J8M2
resolver
uniprot
Q5T460
resolver
uniprot
Q5T462
resolver
uniprot
Q68DG6
resolver
uniprot
Q8N9X1
resolver
uniprot
Q8NF34
resolver
uniprot
Q8TEK1
resolver
uniprot_entry
RHG19_HUMAN
resolver
uniprot_sec
A1XCP1
resolver
uniprot_sec
B4DZR1
resolver
uniprot_sec
Q14CF2
resolver
uniprot_sec
Q5J8M2
resolver
uniprot_sec
Q5T460
resolver
uniprot_sec
Q5T462
resolver
uniprot_sec
Q68DG6
resolver
uniprot_sec
Q8N9X1
resolver
uniprot_sec
Q8NF34
resolver
uniprot_sec
Q8TEK1
resolver
amino_acid_sequence
MATEAQSEGEVPARESGRSDAICSFVICNDSSLRGQPIIFNPDFFVEKLRHEKPEIFTELVVSNITRLIDLPGTELAQLMGEVDLKLPGGAGPASGFFRSLMSLKRKEKGVIFGSPLTEEGIAQIYQLIEYLHKNLRVEGLFRVPGNSVRQQILRDALNNGTDIDLESGEFHSNDVATLLKMFLGELPEPLLTHKHFNAHLKIADLMQFDDKGNKTNIPDKDRQIEALQLLFLILPPPNRNLLKLLLDLLYQTAKKQDKNKMSAYNLALMFAPHVLWPKNVTANDLQENITKLNSGMAFMIKHSQKLFKAPAYIRECARLHYLGSRTQASKDDLDLIASCHTKSFQLAKSQKRNRVDSCPHQEETQHHTEEALRELFQHVHDMPESAKKKQLIRQFNKQSLTQTPGREPSTSQVQKRARSRSFSGLIKRKVLGNQMMSEKKKKNPTPESVAIGELKGTSKENRNLLFSGSPAVTMTPTRLKWSEGKKEGKKGFL
uniprot
proteins
disease_involvement
DISEASE: Charcot-Marie-Tooth disease, axonal, type 2KK (CMT2KK) [MIM:621466]: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2KK is a slowly progressive, autosomal recessive form with onset of symptoms usually in the first or second decades. The disorder predominantly affects motor nerves in the lower limbs, leading to gait difficulties with foot drop, increased falls, muscle atrophy of the lower limbs, and areflexia. {ECO:0000269|PubMed:41086021}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Has GTPase activator activity toward RHOA; RHOA activation results in GTP hydrolysis and conversion from an active GTP-bound to an inactive GDP-bound state (PubMed:24259668, PubMed:41086021). Lacks GTPase activator activity toward RAC1 or CDC42 (PubMed:24259668). {ECO:0000269|PubMed:24259668, ECO:0000269|PubMed:41086021}.
uniprot
proteins
mass_dalton
55756
uniprot
proteins
pubmed
12693554
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17454002
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24259668
uniprot
proteins
pubmed
41086021
uniprot
proteins
sequence_length
494
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17454002, ECO:0000269|PubMed:24259668}. Cytoplasm {ECO:0000269|PubMed:24259668}. Cytoplasm, cell cortex {ECO:0000269|PubMed:24259668}. Note=Localization changes during the cell cycle. In prophase and metaphase, it is dispersed in the cytoplasm; after anaphase onset, it is recruited at the cell cortex, and during cleavage furrow ingression and until the end of telophase, it concentrates at the equatorial cortex. {ECO:0000269|PubMed:24259668}.
uniprot
proteins