GET3
entrez
439
canonical
uniprot
O43681
canonical
ensembl
ENSG00000198356
resolver
ensp
ENSP00000349887
resolver
ensp
ENSP00000466379
resolver
enst
ENST00000357332
resolver
enst
ENST00000591090
resolver
genesymbol
GET3
resolver
genesymbol_syn
ARSA
resolver
genesymbol_syn
ASNA1
resolver
genesymbol_syn
TRC40
resolver
hgnc
HGNC:752
resolver
uniprot
A6NHP8
resolver
uniprot
A8K740
resolver
uniprot
Q53FC6
resolver
uniprot
Q92849
resolver
uniprot_entry
GET3_HUMAN
resolver
uniprot_sec
A6NHP8
resolver
uniprot_sec
A8K740
resolver
uniprot_sec
Q53FC6
resolver
uniprot_sec
Q92849
resolver
amino_acid_sequence
MAAGVAGWGVEAEEFEDAPDVEPLEPTLSNIIEQRSLKWIFVGGKGGVGKTTCSCSLAVQLSKGRESVLIISTDPAHNISDAFDQKFSKVPTKVKGYDNLFAMEIDPSLGVAELPDEFFEEDNMLSMGKKMMQEAMSAFPGIDEAMSYAEVMRLVKGMNFSVVVFDTAPTGHTLRLLNFPTIVERGLGRLMQIKNQISPFISQMCNMLGLGDMNADQLASKLEETLPVIRSVSEQFKDPEQTTFICVCIAEFLSLYETERLIQELAKCKIDTHNIIVNQLVFPDPEKPCKMCEARHKIQAKYLDQMEDLYEDFHIVKLPLLPHEVRGADKVNTFSALLLEPYKPPSAQ
uniprot
proteins
disease_involvement
DISEASE: Cardiomyopathy, dilated, 2H (CMD2H) [MIM:620203]: A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2H is an autosomal recessive form characterized by rapid progression and death in early infancy. {ECO:0000269|PubMed:31461301}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.6.4.-
uniprot
proteins
function
FUNCTION: ATPase required for the post-translational delivery of tail-anchored (TA) proteins to the endoplasmic reticulum (PubMed:17382883). Recognizes and selectively binds the transmembrane domain of TA proteins in the cytosol. This complex then targets to the endoplasmic reticulum by membrane-bound receptors GET1/WRB and CAMLG/GET2, where the tail-anchored protein is released for insertion. This process is regulated by ATP binding and hydrolysis. ATP binding drives the homodimer towards the closed dimer state, facilitating recognition of newly synthesized TA membrane proteins. ATP hydrolysis is required for insertion. Subsequently, the homodimer reverts towards the open dimer state, lowering its affinity for the GET1-CAMLG receptor, and returning it to the cytosol to initiate a new round of targeting. May be involved in insulin signaling. {ECO:0000255|HAMAP-Rule:MF_03112, ECO:0000269|PubMed:17382883, ECO:0000269|PubMed:18477612, ECO:0000269|PubMed:23041287, ECO:0000269|PubMed:25535373, ECO:0000269|PubMed:31461301}.
uniprot
proteins
mass_dalton
38793
uniprot
proteins
mutagenesis
MUTAGEN 46; /note="G->R: Abolishes ATPase activity, dominantly inhibits the TA protein insertion pathway."; /evidence="ECO:0000269|PubMed:17382883"; MUTAGEN 86; /note="K->D: Reduces TA protein insertion pathway."; /evidence="ECO:0000269|PubMed:25535373
uniprot
proteins
protein_family
ArsA ATPase family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17382883
uniprot
proteins
pubmed
18477612
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21444755
uniprot
proteins
pubmed
23041287
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24392163
uniprot
proteins
pubmed
25535373
uniprot
proteins
pubmed
31461301
uniprot
proteins
pubmed
32910895
uniprot
proteins
pubmed
34887561
uniprot
proteins
pubmed
37963916
uniprot
proteins
pubmed
8884272
uniprot
proteins
pubmed
9712828
uniprot
proteins
pubmed
9736449
uniprot
proteins
pubmed
9774623
uniprot
proteins
sequence_length
348
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17382883, ECO:0000269|PubMed:21444755, ECO:0000269|PubMed:9736449}. Endoplasmic reticulum {ECO:0000269|PubMed:17382883, ECO:0000269|PubMed:21444755, ECO:0000269|PubMed:31461301}. Nucleus, nucleolus {ECO:0000269|PubMed:21444755, ECO:0000269|PubMed:9736449}.
uniprot
proteins