ERGIC1
entrez
57222
canonical
uniprot
Q969X5
canonical
ensembl
ENSG00000113719
resolver
ensp
ENSP00000377374
resolver
ensp
ENSP00000509559
resolver
ensp
ENSP00000509817
resolver
enst
ENST00000686615
resolver
genesymbol
ERGIC1
resolver
genesymbol_syn
ERGIC32
resolver
genesymbol_syn
KIAA1181
resolver
hgnc
HGNC:29205
resolver
uniprot
A0A8I5KPY8
resolver
uniprot
Q9H0L0
resolver
uniprot
Q9H2J2
resolver
uniprot
Q9ULN9
resolver
uniprot_entry
A0A8I5KPY8_HUMAN
resolver
uniprot_entry
ERGI1_HUMAN
resolver
uniprot_sec
Q9H0L0
resolver
uniprot_sec
Q9H2J2
resolver
uniprot_sec
Q9ULN9
resolver
amino_acid_sequence
MPFDFRRFDIYRKVPKDLTQPTYTGAIISICCCLFILFLFLSELTGFITTEVVNELYVDDPDKDSGGKIDVSLNISLPNLHCELVGLDIQDEMGRHEVGHIDNSMKIPLNNGAGCRFEGQFSINKVPGNFHVSTHSATAQPQNPDMTHVIHKLSFGDTLQVQNIHGAFNALGGADRLTSNPLASHDYILKIVPTVYEDKSGKQRYSYQYTVANKEYVAYSHTGRIIPAIWFRYDLSPITVKYTERRQPLYRFITTICAIIGGTFTVAGILDSCIFTASEAWKKIQLGKMH
uniprot
proteins
disease_involvement
DISEASE: Arthrogryposis multiplex congenita 2, neurogenic type (AMC2) [MIM:208100]: A form of arthrogryposis multiplex congenita, a heterogeneous group of disorders characterized by multiple joint contractures resulting, in some cases, from reduced or absent fetal movements. AMC2 is due to a neurogenic defect and is characterized by congenital immobility of the limbs with fixation of multiple joints, and muscle wasting. AMC2 transmission pattern is consistent with autosomal recessive inheritance in several families. Penetrance may be incomplete in females. {ECO:0000269|PubMed:28317099}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Possible role in transport between endoplasmic reticulum and Golgi. {ECO:0000303|PubMed:15308636}.
uniprot
proteins
mass_dalton
32592
uniprot
proteins
post_translational_modification
PTM: N-glycosylated. {ECO:0000269|PubMed:15308636, ECO:0000269|PubMed:19159218}.
uniprot
proteins
protein_family
ERGIC family
uniprot
proteins
pubmed
10574461
uniprot
proteins
pubmed
10931946
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
15308636
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28317099
uniprot
proteins
pubmed
31142615
uniprot
proteins
sequence_length
290
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15308636}; Multi-pass membrane protein {ECO:0000269|PubMed:15308636}. Endoplasmic reticulum-Golgi intermediate compartment membrane {ECO:0000269|PubMed:15308636}; Multi-pass membrane protein {ECO:0000269|PubMed:15308636}. Golgi apparatus membrane {ECO:0000269|PubMed:15308636}; Multi-pass membrane protein {ECO:0000269|PubMed:15308636}. Note=Cycles between the endoplasmic reticulum and the Golgi.
uniprot
proteins
transmembrane_region
TRANSMEM 27..47; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 255..275; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins