ARV1
entrez
64801
canonical
uniprot
Q9H2C2
canonical
ensembl
ENSG00000173409
resolver
ensp
ENSP00000312458
resolver
ensp
ENSP00000394547
resolver
ensp
ENSP00000563898
resolver
ensp
ENSP00000563902
resolver
enst
ENST00000310256
resolver
enst
ENST00000893843
resolver
genesymbol
ARV1
resolver
hgnc
HGNC:29561
resolver
uniprot
A8KAI4
resolver
uniprot
Q5VSN7
resolver
uniprot
Q5VSN8
resolver
uniprot
Q5VSN9
resolver
uniprot
Q5VSP0
resolver
uniprot
Q5VSP2
resolver
uniprot
Q9H2H2
resolver
uniprot
Q9H5V6
resolver
uniprot
Q9UFF5
resolver
uniprot_entry
ARV1_HUMAN
resolver
uniprot_sec
A8KAI4
resolver
uniprot_sec
Q5VSN7
resolver
uniprot_sec
Q5VSN8
resolver
uniprot_sec
Q5VSN9
resolver
uniprot_sec
Q5VSP0
resolver
uniprot_sec
Q5VSP2
resolver
uniprot_sec
Q9H2H2
resolver
uniprot_sec
Q9H5V6
resolver
uniprot_sec
Q9UFF5
resolver
amino_acid_sequence
MGNGGRSGLQQGKGNVDGVAATPTAASASCQYRCIECNQEAKELYRDYNHGVLKITICKSCQKPVDKYIEYDPVIILINAILCKAQAYRHILFNTQINIHGKLCIFCLLCEAYLRWWQLQDSNQNTAPDDLIRYAKEWDFYRMFAIAALEQTAYFIGIFTFLWVERPMTAKKKPNFILLLKALLLSSYGKLLLIPAVIWEHDYTSVCLKLIKVFVLTSNFQAIRVTLNINRKLSFLAVLSGLLLESIMVYFFQSMEWDVGSDYAIFKSQDF
uniprot
proteins
disease_involvement
DISEASE: Developmental and epileptic encephalopathy 38 (DEE38) [MIM:617020]: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE38 inheritance is autosomal recessive. {ECO:0000269|PubMed:25558065, ECO:0000269|PubMed:27270415}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role as a mediator in the endoplasmic reticulum (ER) cholesterol and bile acid homeostasis (PubMed:11063737, PubMed:12145310, PubMed:20663892). Participates in sterol transport out of the ER and distribution into plasma membranes (PubMed:20663892). {ECO:0000269|PubMed:11063737, ECO:0000269|PubMed:12145310, ECO:0000269|PubMed:20663892}.
uniprot
proteins
mass_dalton
31052
uniprot
proteins
protein_family
ARV1 family
uniprot
proteins
pubmed
11063737
uniprot
proteins
pubmed
12145310
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
20663892
uniprot
proteins
pubmed
25558065
uniprot
proteins
pubmed
27270415
uniprot
proteins
sequence_length
271
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:20663892}; Multi-pass membrane protein {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 144..164; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 176..196; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 233..253; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins