TMCO1
entrez
54499
canonical
uniprot
Q9UM00
canonical
ensembl
ENSG00000143183
resolver
ensp
ENSP00000356856
resolver
ensp
ENSP00000462300
resolver
ensp
ENSP00000480514
resolver
enst
ENST00000481278
resolver
genesymbol
TMCO1
resolver
genesymbol_syn
TMCC4
resolver
hgnc
HGNC:18188
resolver
uniprot
A0ACM8QBN6
resolver
uniprot
B2REA0
resolver
uniprot
B7Z591
resolver
uniprot
J3KS45
resolver
uniprot
J9JIE6
resolver
uniprot
O75545
resolver
uniprot
Q9BZS3
resolver
uniprot
Q9BZU8
resolver
uniprot_entry
A0ACM8QBN6_HUMAN
resolver
uniprot_entry
B7Z591_HUMAN
resolver
uniprot_entry
TMCO1_HUMAN
resolver
uniprot_sec
B2REA0
resolver
uniprot_sec
J3KS45
resolver
uniprot_sec
J9JIE6
resolver
uniprot_sec
O75545
resolver
uniprot_sec
Q9BZS3
resolver
uniprot_sec
Q9BZU8
resolver
amino_acid_sequence
MPRKRKCDLRAVRVGLLLGGGGVYGSRFRFTFPGCRALSPWRVRVQRRRCEMSTMFADTLLIVFISVCTALLAEGITWVLVYRTDKYKRLKAEVEKQSKKLEKKKETITESAGRQQKKKIERQEEKLKNNNRDLSMVRMKSMFAIGFCFTALMGMFNSIFDGRVVAKLPFTPLSYIQGLSHRNLLGDDTTDCSFIFLYILCTMSIRQNIQKILGLAPSRAATKQAGGFLGPPPPSGKFS
uniprot
proteins
disease_involvement
DISEASE: Craniofacial dysmorphism, skeletal anomalies and impaired intellectual development syndrome 1 (CFSMR1) [MIM:213980]: An autosomal recessive disorder characterized by craniofacial and skeletal anomalies, associated with intellectual disability. Typical craniofacial dysmorphism include brachycephaly, highly arched bushy eyebrows, synophrys, long eyelashes, low-set ears, microdontism of primary teeth, and generalized gingival hyperplasia, whereas Sprengel deformity of scapula, fusion of spine, rib abnormities, pectus excavatum, and pes planus represent skeletal anomalies. {ECO:0000269|PubMed:20018682, ECO:0000269|PubMed:23320496, ECO:0000269|PubMed:24194475}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Glaucoma, primary open angle (POAG) [MIM:137760]: A complex and genetically heterogeneous ocular disorder characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. In some cases, POAG shows digenic inheritance involving mutations in CYP1B1 and MYOC genes. {ECO:0000269|PubMed:21532571, ECO:0000269|PubMed:22714896}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Endoplasmic reticulum (ER) calcium-selective channel preventing intracellular Ca2(+) stores from overfilling and maintaining calcium homeostasis in the ER (PubMed:27212239). In response to endoplasmic reticulum (ER) Ca2(+) overloading, assembles into a homotetramer, forming a functional calcium-selective channel facilitating Ca2(+) release (PubMed:27212239). Mediates ER Ca2(+) homeostasis in osteoblasts and plays a key role in bone formation, via the CaMKII-HDAC4-RUNX2 signaling axis (By similarity). Component of the multi-pass translocon (MPT) complex that mediates insertion of multi-pass membrane proteins into the lipid bilayer of membranes (PubMed:32820719, PubMed:36261522). The MPT complex takes over after the SEC61 complex: following membrane insertion of the first few transmembrane segments of proteins by the SEC61 complex, the MPT complex occludes the lateral gate of the SEC61 complex to promote insertion of subsequent transmembrane regions (PubMed:36261522). Within the MPT complex, the GEL subcomplex may mediate insertion of transmembrane regions into the membrane (PubMed:36261522). {ECO:0000250|UniProtKB:Q921L3, ECO:0000269|PubMed:27212239, ECO:0000269|PubMed:32820719, ECO:0000269|PubMed:36261522}.
uniprot
proteins
mass_dalton
27079
uniprot
proteins
mutagenesis
MUTAGEN 191; /note="D->A: Abolishes the calcium channel activity."; /evidence="ECO:0000269|PubMed:27212239"; MUTAGEN 191; /note="D->E: Retains some of the calcium channel activity."; /evidence="ECO:0000269|PubMed:27212239
uniprot
proteins
protein_family
TMCO1 family
uniprot
proteins
pubmed
10393320
uniprot
proteins
pubmed
12975309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
20018682
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21532571
uniprot
proteins
pubmed
22714896
uniprot
proteins
pubmed
23320496
uniprot
proteins
pubmed
24194475
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27212239
uniprot
proteins
pubmed
32820719
uniprot
proteins
pubmed
36261522
uniprot
proteins
sequence_length
239
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:10393320, ECO:0000269|PubMed:27212239, ECO:0000269|PubMed:36261522}; Multi-pass membrane protein {ECO:0000269|PubMed:10393320, ECO:0000269|PubMed:27212239}. Golgi apparatus membrane {ECO:0000269|PubMed:10393320}; Multi-pass membrane protein {ECO:0000269|PubMed:10393320}. Mitochondrion membrane {ECO:0000250|UniProtKB:C5HGF3}; Multi-pass membrane protein {ECO:0000269|PubMed:10393320}. Note=The first transmembrane region is required for localization to the endoplasmic reticulum (PubMed:27212239). A publication reported localization in cytoplasm and nucleus (PubMed:22714896). Nuclear localization is however in contradiction with two other reports (PubMed:10393320, PubMed:27212239). {ECO:0000269|PubMed:10393320, ECO:0000269|PubMed:22714896, ECO:0000269|PubMed:27212239}.
uniprot
proteins
transmembrane_region
TRANSMEM 56..83; /note="Helical"; /evidence="ECO:0000250|UniProtKB:A0A8I3PI99"; TRANSMEM 138..157; /note="Helical"; /evidence="ECO:0000250|UniProtKB:A0A8I3PI99"; TRANSMEM 192..213; /note="Helical"; /evidence="ECO:0000250|UniProtKB:A0A8I3PI99
uniprot
proteins