EMC1
entrez
23065
canonical
uniprot
Q8N766
canonical
ensembl
ENSG00000127463
resolver
ensp
ENSP00000364345
resolver
ensp
ENSP00000364354
resolver
ensp
ENSP00000419345
resolver
ensp
ENSP00000420608
resolver
ensp
ENSP00000581162
resolver
enst
ENST00000486405
resolver
genesymbol
EMC1
resolver
genesymbol_syn
KIAA0090
resolver
hgnc
HGNC:28957
resolver
uniprot
A8K6F3
resolver
uniprot
H7C5A2
resolver
uniprot
Q14700
resolver
uniprot
Q5TG62
resolver
uniprot
Q63HL0
resolver
uniprot
Q63HL3
resolver
uniprot
Q8NBH8
resolver
uniprot_entry
EMC1_HUMAN
resolver
uniprot_entry
H7C5A2_HUMAN
resolver
uniprot_sec
A8K6F3
resolver
uniprot_sec
Q14700
resolver
uniprot_sec
Q5TG62
resolver
uniprot_sec
Q63HL0
resolver
uniprot_sec
Q63HL3
resolver
uniprot_sec
Q8NBH8
resolver
amino_acid_sequence
MAAEWASRFWLWATLLIPAAAVYEDQVGKFDWRQQYVGKVKFASLEFSPGSKKLVVATEKNVIAALNSRTGEILWRHVDKGTAEGAVDAMLLHGQDVITVSNGGRIMRSWETNIGGLNWEITLDSGSFQALGLVGLQESVRYIAVLKKTTLALHHLSSGHLKWVEHLPESDSIHYQMVYSYGSGVVWALGVVPFSHVNIVKFNVEDGEIVQQVRVSTPWLQHLSGACGVVDEAVLVCPDPSSRSLQTLALETEWELRQIPLQSLDLEFGSGFQPRVLPTQPNPVDASRAQFFLHLSPSHYALLQYHYGTLSLLKNFPQTALVSFATTGEKTVAAVMACRNEVQKSSSSEDGSMGSFSEKSSSKDSLACFNQTYTINLYLVETGRRLLDTTITFSLEQSGTRPERLYIQVFLKKDDSVGYRALVQTEDHLLLFLQQLAGKVVLWSREESLAEVVCLEMVDLPLTGAQAELEGEFGKKADGLLGMFLKRLSSQLILLQAWTSHLWKMFYDARKPRSQIKNEINIDTLARDEFNLQKMMVMVTASGKLFGIESSSGTILWKQYLPNVKPDSSFKLMVQRTTAHFPHPPQCTLLVKDKESGMSSLYVFNPIFGKWSQVAPPVLKRPILQSLLLPVMDQDYAKVLLLIDDEYKVTAFPATRNVLRQLHELAPSIFFYLVDAEQGRLCGYRLRKDLTTELSWELTIPPEVQRIVKVKGKRSSEHVHSQGRVMGDRSVLYKSLNPNLLAVVTESTDAHHERTFIGIFLIDGVTGRIIHSSVQKKAKGPVHIVHSENWVVYQYWNTKARRNEFTVLELYEGTEQYNATAFSSLDRPQLPQVLQQSYIFPSSISAMEATITERGITSRHLLIGLPSGAILSLPKALLDPRRPEIPTEQSREENLIPYSPDVQIHAERFINYNQTVSRMRGIYTAPSGLESTCLVVAYGLDIYQTRVYPSKQFDVLKDDYDYVLISSVLFGLVFATMITKRLAQVKLLNRAWR
uniprot
proteins
disease_involvement
DISEASE: Cerebellar atrophy, visual impairment, and psychomotor retardation (CAVIPMR) [MIM:616875]: An autosomal recessive, neurodegenerative disorder characterized by developmental delay, intellectual disability, hypotonia, scoliosis, cerebellar atrophy, and variable dysmorphic features. {ECO:0000269|PubMed:26942288}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Part of the endoplasmic reticulum membrane protein complex (EMC) that enables the energy-independent insertion into endoplasmic reticulum membranes of newly synthesized membrane proteins (PubMed:29242231, PubMed:29809151, PubMed:30415835, PubMed:32439656, PubMed:32459176). Preferentially accommodates proteins with transmembrane domains that are weakly hydrophobic or contain destabilizing features such as charged and aromatic residues (PubMed:29242231, PubMed:29809151, PubMed:30415835). Involved in the cotranslational insertion of multi-pass membrane proteins in which stop-transfer membrane-anchor sequences become ER membrane spanning helices (PubMed:29809151, PubMed:30415835). It is also required for the post-translational insertion of tail-anchored/TA proteins in endoplasmic reticulum membranes (PubMed:29242231, PubMed:29809151). By mediating the proper cotranslational insertion of N-terminal transmembrane domains in an N-exo topology, with translocated N-terminus in the lumen of the ER, controls the topology of multi-pass membrane proteins like the G protein-coupled receptors (PubMed:30415835). By regulating the insertion of various proteins in membranes, it is indirectly involved in many cellular processes (Probable). {ECO:0000269|PubMed:29242231, ECO:0000269|PubMed:29809151, ECO:0000269|PubMed:30415835, ECO:0000269|PubMed:32439656, ECO:0000269|PubMed:32459176, ECO:0000305}.
uniprot
proteins
mass_dalton
111759
uniprot
proteins
protein_family
EMC1 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22119785
uniprot
proteins
pubmed
23105016
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26942288
uniprot
proteins
pubmed
29242231
uniprot
proteins
pubmed
29809151
uniprot
proteins
pubmed
30415835
uniprot
proteins
pubmed
32439656
uniprot
proteins
pubmed
32459176
uniprot
proteins
pubmed
7788527
uniprot
proteins
sequence_length
993
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:22119785}; Single-pass type I membrane protein {ECO:0000269|PubMed:32439656, ECO:0000269|PubMed:32459176}.
uniprot
proteins
transmembrane_region
TRANSMEM 963..983; /note="Helical"; /evidence="ECO:0000269|PubMed:32439656
uniprot
proteins