GET4
entrez
51608
canonical
uniprot
Q7L5D6
canonical
ensembl
ENSG00000239857
resolver
ensp
ENSP00000265857
resolver
genesymbol
GET4
resolver
genesymbol_syn
C7orf20
resolver
genesymbol_syn
CEE
resolver
genesymbol_syn
TRC35
resolver
hgnc
HGNC:21690
resolver
uniprot
A4D2Q1
resolver
uniprot
B3KNC7
resolver
uniprot
Q9UFC9
resolver
uniprot
Q9Y309
resolver
uniprot_entry
GET4_HUMAN
resolver
uniprot_sec
A4D2Q1
resolver
uniprot_sec
B3KNC7
resolver
uniprot_sec
Q9UFC9
resolver
uniprot_sec
Q9Y309
resolver
amino_acid_sequence
MAAAAAMAEQESARNGGRNRGGVQRVEGKLRASVEKGDYYEAHQMYRTLFFRYMSQSKHTEARELMYSGALLFFSHGQQNSAADLSMLVLESLEKAEVEVADELLENLAKVFSLMDPNSPERVTFVSRALKWSSGGSGKLGHPRLHQLLALTLWKEQNYCESRYHFLHSADGEGCANMLVEYSTSRGFRSEVDMFVAQAVLQFLCLKNKSSASVVFTTYTQKHPSIEDGPPFVEPLLNFIWFLLLAVDGGKLTVFTVLCEQYQPSLRRDPMYNEYLDRIGQLFFGVPPKQTSSYGGLLGNLLTSLMGSSEQEDGEESPSDGSPIELD
uniprot
proteins
disease_involvement
DISEASE: Congenital disorder of glycosylation 2Y (CDG2Y) [MIM:620200]: A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG2Y is an autosomal recessive form characterized by poor overall growth and global developmental delay with impaired intellectual development. Other features may include hypotonia, seizures, brain imaging abnormalities, dysmorphic features, and various skeletal defects. {ECO:0000269|PubMed:32395830}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: As part of a cytosolic protein quality control complex, the BAG6/BAT3 complex, maintains misfolded and hydrophobic patches-containing proteins in a soluble state and participates in their proper delivery to the endoplasmic reticulum or alternatively can promote their sorting to the proteasome where they undergo degradation (PubMed:20676083, PubMed:21636303, PubMed:21743475, PubMed:28104892, PubMed:32395830). The BAG6/BAT3 complex is involved in the post-translational delivery of tail-anchored/type II transmembrane proteins to the endoplasmic reticulum membrane. Recruited to ribosomes, it interacts with the transmembrane region of newly synthesized tail-anchored proteins and together with SGTA and ASNA1 mediates their delivery to the endoplasmic reticulum (PubMed:20676083, PubMed:25535373, PubMed:28104892). Client proteins that cannot be properly delivered to the endoplasmic reticulum are ubiquitinated and sorted to the proteasome (PubMed:28104892). Similarly, the BAG6/BAT3 complex also functions as a sorting platform for proteins of the secretory pathway that are mislocalized to the cytosol either delivering them to the proteasome for degradation or to the endoplasmic reticulum (PubMed:21743475). The BAG6/BAT3 complex also plays a role in the endoplasmic reticulum-associated degradation (ERAD), a quality control mechanism that eliminates unwanted proteins of the endoplasmic reticulum through their retrotranslocation to the cytosol and their targeting to the proteasome. It maintains these retrotranslocated proteins in an unfolded yet soluble state condition in the cytosol to ensure their proper delivery to the proteasome (PubMed:21636303). {ECO:0000269|PubMed:20676083, ECO:0000269|PubMed:21636303, ECO:0000269|PubMed:21743475, ECO:0000269|PubMed:25535373, ECO:0000269|PubMed:28104892, ECO:0000269|PubMed:32395830}.
uniprot
proteins
mass_dalton
36504
uniprot
proteins
mutagenesis
MUTAGEN 25; /note="R->D: Loss of interaction with GET3; when associated with D-29. Impairs tail-anchored protein delivery; when associetd with D-29."; /evidence="ECO:0000269|PubMed:34887561"; MUTAGEN 29; /note="K->D: Loss of interaction with GET3; when associated with D-25. Impairs tail-anchored protein delivery; when associetd with D-25."; /evidence="ECO:0000269|PubMed:34887561"; MUTAGEN 84; /note="D->K: Reduces tail-anchored protein delivery."; /evidence="ECO:0000269|PubMed:25535373"; MUTAGEN 182; /note="Y->A: No effect on interaction with BAG6."; /evidence="ECO:0000269|PubMed:29042515"; MUTAGEN 188; /note="F->A: No effect on interaction with BAG6."; /evidence="ECO:0000269|PubMed:29042515"; MUTAGEN 195; /note="F->A: No effect on interaction with BAG6."; /evidence="ECO:0000269|PubMed:29042515"; MUTAGEN 241; /note="W->A: No effect on interaction with BAG6."; /evidence="ECO:0000269|PubMed:29042515"; MUTAGEN 242; /note="F->A: No effect on interaction with BAG6."; /evidence="ECO:0000269|PubMed:29042515"; MUTAGEN 257; /note="V->A: No effect on interaction with BAG6."; /evidence="ECO:0000269|PubMed:29042515"; MUTAGEN 258; /note="L->A: No effect on interaction with BAG6."; /evidence="ECO:0000269|PubMed:29042515"; MUTAGEN 259; /note="C->A: No effect on interaction with BAG6."; /evidence="ECO:0000269|PubMed:29042515"; MUTAGEN 262; /note="Y->A: Inhibits interaction with BAG6."; /evidence="ECO:0000269|PubMed:29042515"; MUTAGEN 266; /note="L->A: No effect on interaction with BAG6."; /evidence="ECO:0000269|PubMed:29042515"; MUTAGEN 278; /note="R->E: No effect on interaction with GET3. No effect on tail-anchored protein delivery."; /evidence="ECO:0000269|PubMed:34887561
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by RNF12, leading to proteasomal degradation. When unassembled from BAG6; ubiquitinylation is modulated by BAG6 quality control role and effectuated by RNF126. {ECO:0000269|PubMed:29042515}.
uniprot
proteins
protein_family
GET4 family
uniprot
proteins
pubmed
10810093
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18249086
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
20676083
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21636303
uniprot
proteins
pubmed
21743475
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25535373
uniprot
proteins
pubmed
28104892
uniprot
proteins
pubmed
29042515
uniprot
proteins
pubmed
32395830
uniprot
proteins
pubmed
34887561
uniprot
proteins
sequence_length
327
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:20676083, ECO:0000269|PubMed:21636303, ECO:0000269|PubMed:29042515, ECO:0000269|PubMed:32395830}.
uniprot
proteins