Details for: TMCO1

Gene ID: 54499

Symbol: TMCO1

Ensembl ID: ENSG00000143183

Description: transmembrane and coiled-coil domains 1

Associated with

Other Information

Genular Protein ID: 2206871510

Symbol: TMCO1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 10393320

Title: Multi-ubiquitination of a nascent membrane protein produced in a rabbit reticulocyte lysate.

PubMed ID: 10393320

DOI: 10.1093/oxfordjournals.jbchem.a022435

PubMed ID: 12975309

Title: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.

PubMed ID: 12975309

DOI: 10.1101/gr.1293003

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 20018682

Title: Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.

PubMed ID: 20018682

DOI: 10.1073/pnas.0908457107

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21532571

Title: Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1.

PubMed ID: 21532571

DOI: 10.1038/ng.824

PubMed ID: 22714896

Title: Association of genetic variants in the TMCO1 gene with clinical parameters related to glaucoma and characterization of the protein in the eye.

PubMed ID: 22714896

DOI: 10.1167/iovs.11-9047

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 23320496

Title: Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum.

PubMed ID: 23320496

DOI: 10.1111/cge.12088

PubMed ID: 24194475

Title: TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.

PubMed ID: 24194475

DOI: 10.1002/ajmg.a.36248

PubMed ID: 27212239

Title: TMCO1 is an ER Ca(2+) load-activated Ca(2+) channel.

PubMed ID: 27212239

DOI: 10.1016/j.cell.2016.04.051

PubMed ID: 36261522

Title: Substrate-driven assembly of a translocon for multipass membrane proteins.

PubMed ID: 36261522

DOI: 10.1038/s41586-022-05330-8

PubMed ID: 32820719

Title: An ER translocon for multi-pass membrane protein biogenesis.

PubMed ID: 32820719

DOI: 10.7554/elife.56889

Sequence Information:

  • Length: 239
  • Mass: 27079
  • Checksum: 8364C78CCA2DA982
  • Sequence:
  • MPRKRKCDLR AVRVGLLLGG GGVYGSRFRF TFPGCRALSP WRVRVQRRRC EMSTMFADTL 
    LIVFISVCTA LLAEGITWVL VYRTDKYKRL KAEVEKQSKK LEKKKETITE SAGRQQKKKI 
    ERQEEKLKNN NRDLSMVRMK SMFAIGFCFT ALMGMFNSIF DGRVVAKLPF TPLSYIQGLS 
    HRNLLGDDTT DCSFIFLYIL CTMSIRQNIQ KILGLAPSRA ATKQAGGFLG PPPPSGKFS

Genular Protein ID: 1773955537

Symbol: B7Z591_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

Sequence Information:

  • Length: 176
  • Mass: 19897
  • Checksum: 478A92D7DE293034
  • Sequence:
  • MESIAEFSLV SGITWVLVYR TDKYKRLKAE VEKQSKKLEK KKETITESAG RQQKKKIERQ 
    EEKLKNNNRD LSMVRMKSMF AIGFCFTALM GMFNSIFDGR VVAKLPFTPL SYIQGLSHRN 
    LLGDDTTDCS FIFLYILCTM SIRQNIQKIL GLAPSRAATK QAGGFLGPPP PSGKFS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.