IER3IP1
entrez
51124
canonical
uniprot
Q9Y5U9
canonical
ensembl
ENSG00000134049
resolver
ensembl
ENSG00000267228
resolver
ensp
ENSP00000256433
resolver
ensp
ENSP00000465194
resolver
enst
ENST00000256433
resolver
enst
ENST00000588705
resolver
genesymbol
IER3IP1
resolver
hgnc
HGNC:18550
resolver
uniprot_entry
IR3IP_HUMAN
resolver
amino_acid_sequence
MAFTLYSLLQAALLCVNAIAVLHEERFLKNIGWGTDQGIGGFGEEPGIKSQLMNLIRSVRTVMRVPLIIVNSIAIVLLLLFG
uniprot
proteins
disease_involvement
DISEASE: Microcephaly, epilepsy, and diabetes syndrome 1 (MEDS1) [MIM:614231]: An autosomal recessive disorder characterized by microcephaly, simplified gyral pattern, severe epilepsy, and infantile diabetes. {ECO:0000269|PubMed:21835305, ECO:0000269|PubMed:22991235, ECO:0000269|PubMed:24138066}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Regulator of endoplasmic reticulum secretion that acts as a key determinant of brain size (PubMed:33122427). Required for secretion of extracellular matrix proteins (PubMed:33122427). Required for correct brain development by depositing sufficient extracellular matrix proteins for tissue integrity and the proliferation of neural progenitors (PubMed:33122427). Acts as a regulator of the unfolded protein response (UPR) (By similarity). {ECO:0000250|UniProtKB:Q9CR20, ECO:0000269|PubMed:33122427}.
uniprot
proteins
mass_dalton
8969
uniprot
proteins
protein_family
YOS1 family
uniprot
proteins
pubmed
10931946
uniprot
proteins
pubmed
11042152
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
15276200
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21835305
uniprot
proteins
pubmed
22991235
uniprot
proteins
pubmed
24138066
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
33122427
uniprot
proteins
sequence_length
82
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15276200, ECO:0000305|PubMed:33122427}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 2..22; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 62..82; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins