ERLIN1
entrez
10613
canonical
uniprot
O75477
canonical
ensembl
ENSG00000107566
resolver
ensp
ENSP00000384900
resolver
ensp
ENSP00000410964
resolver
enst
ENST00000407654
resolver
enst
ENST00000421367
resolver
genesymbol
ERLIN1
resolver
genesymbol_syn
C10orf69
resolver
genesymbol_syn
KE04
resolver
genesymbol_syn
KEO4
resolver
genesymbol_syn
SPFH1
resolver
hgnc
HGNC:16947
resolver
uniprot
B0QZ42
resolver
uniprot
D3DR65
resolver
uniprot
Q53HV0
resolver
uniprot_entry
ERLN1_HUMAN
resolver
uniprot_sec
B0QZ42
resolver
uniprot_sec
D3DR65
resolver
uniprot_sec
Q53HV0
resolver
amino_acid_sequence
MNMTQARVLVAAVVGLVAVLLYASIHKIEEGHLAVYYRGGALLTSPSGPGYHIMLPFITTFRSVQTTLQTDEVKNVPCGTSGGVMIYIDRIEVVNMLAPYAVFDIVRNYTADYDKTLIFNKIHHELNQFCSAHTLQEVYIELFDQIDENLKQALQKDLNLMAPGLTIQAVRVTKPKIPEAIRRNFELMEAEKTKLLIAAQKQKVVEKEAETERKKAVIEAEKIAQVAKIRFQQKVMEKETEKRISEIEDAAFLAREKAKADAEYYAAHKYATSNKHKLTPEYLELKKYQAIASNSKIYFGSNIPNMFVDSSCALKYSDIRTGRESSLPSKEALEPSGENVIQNKESTG
uniprot
proteins
disease_involvement
DISEASE: Spastic paraplegia 62, autosomal recessive (SPG62) [MIM:615681]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269|PubMed:24482476}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs). Involved in regulation of cellular cholesterol homeostasis by regulation the SREBP signaling pathway (PubMed:37683630). Binds cholesterol and may promote ER retention of the SCAP-SREBF complex (PubMed:24217618). {ECO:0000269|PubMed:19240031, ECO:0000269|PubMed:24217618, ECO:0000269|PubMed:37683630}.; FUNCTION: (Microbial infection) Required early in hepatitis C virus (HCV) infection to initiate RNA replication, and later in the infection to support infectious virus production. {ECO:0000269|PubMed:31810281}.
uniprot
proteins
mass_dalton
39171
uniprot
proteins
post_translational_modification
PTM: Deubiquitinated by USP25; leading to stabilization. {ECO:0000269|PubMed:37683630}.
uniprot
proteins
protein_family
Band 7/mec-2 family
uniprot
proteins
pubmed
11118313
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16835267
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
19240031
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21343306
uniprot
proteins
pubmed
21610068
uniprot
proteins
pubmed
24217618
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24482476
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
31810281
uniprot
proteins
pubmed
37683630
uniprot
proteins
sequence_length
348
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:11118313, ECO:0000269|PubMed:16835267, ECO:0000269|PubMed:19240031}; Single-pass type II membrane protein {ECO:0000269|PubMed:11118313, ECO:0000269|PubMed:16835267, ECO:0000269|PubMed:19240031}. Note=Associated with lipid raft-like domains of the endoplasmic reticulum membrane.
uniprot
proteins
transmembrane_region
TRANSMEM 8..28; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins