EMC10
entrez
284361
canonical
uniprot
Q5UCC4
canonical
ensembl
ENSG00000161671
resolver
ensp
ENSP00000334037
resolver
ensp
ENSP00000366117
resolver
genesymbol
EMC10
resolver
genesymbol_syn
C19orf63
resolver
genesymbol_syn
INM02
resolver
hgnc
HGNC:27609
resolver
uniprot
Q5UCC6
resolver
uniprot
Q69YT5
resolver
uniprot
Q6UWP3
resolver
uniprot
Q86YL4
resolver
uniprot
Q8N541
resolver
uniprot_entry
EMC10_HUMAN
resolver
uniprot_sec
Q5UCC6
resolver
uniprot_sec
Q69YT5
resolver
uniprot_sec
Q6UWP3
resolver
uniprot_sec
Q86YL4
resolver
uniprot_sec
Q8N541
resolver
amino_acid_sequence
MAAASAGATRLLLLLLMAVAAPSRARGSGCRAGTGARGAGAEGREGEACGTVGLLLEHSFEIDDSANFRKRGSLLWNQQDGTLSLSQRQLSEEERGRLRDVAALNGLYRVRIPRRPGALDGLEAGGYVSSFVPACSLVESHLSDQLTLHVDVAGNVVGVSVVTHPGGCRGHEVEDVDLELFNTSVQLQPPTTAPGPETAAFIERLEMEQAQKAKNPQEQKSFFAKYWMYIIPVVLFLMMSGAPDTGGQGGGGGGGGGGGSGR
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with dysmorphic facies and variable seizures (NEDDFAS) [MIM:619264]: An autosomal recessive disorder characterized by global developmental delay apparent in early childhood, mildly impaired intellectual development, speech delay, behavioral abnormalities, and non-specific dysmorphic facial features. Some patients may have seizures, brain imaging abnormalities, mild skeletal defects, and renal abnormalities. {ECO:0000269|PubMed:32869858, ECO:0000269|PubMed:33531666}. 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). Promotes angiogenesis and tissue repair in the heart after myocardial infarction. Stimulates cardiac endothelial cell migration and outgrowth via the activation of p38 MAPK, PAK and MAPK2 signaling pathways (PubMed:28931551). {ECO:0000269|PubMed:28931551, 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
27347
uniprot
proteins
post_translational_modification
PTM: Glycosylated. {ECO:0000269|PubMed:19159218, ECO:0000269|PubMed:20680400}.
uniprot
proteins
protein_family
EMC10 family
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
15163304
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
19570817
uniprot
proteins
pubmed
20680400
uniprot
proteins
pubmed
22119785
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28931551
uniprot
proteins
pubmed
29242231
uniprot
proteins
pubmed
29809151
uniprot
proteins
pubmed
30415835
uniprot
proteins
pubmed
32439656
uniprot
proteins
pubmed
32459176
uniprot
proteins
pubmed
32869858
uniprot
proteins
pubmed
33531666
uniprot
proteins
sequence_length
262
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Endoplasmic reticulum membrane {ECO:0000305|PubMed:22119785, ECO:0000305|PubMed:32439656, ECO:0000305|PubMed:32459176}; Single-pass type I membrane protein {ECO:0000269|PubMed:32439656, ECO:0000269|PubMed:32459176}.; SUBCELLULAR LOCATION: [Isoform 2]: Secreted {ECO:0000269|PubMed:19570817, ECO:0000269|PubMed:20680400, ECO:0000269|PubMed:28931551}.
uniprot
proteins
transmembrane_region
TRANSMEM 222..242; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins