• Gene id: 54499

Gene Summary

• Gene Symbol: TMCO1   Gene   UCSC   Ensembl
• Aliases: HP10122, PCIA3, PNAS-136, TMCC4
• Gene name: transmembrane and coiled-coil domains 1
• Alternate names: calcium load-activated calcium channel, CLAC channel, Ca(2+) load-activated Ca(2+) channel, putative membrane protein, transmembrane and coiled-coil domain-containing protein 1, transmembrane and coiled-coil domains 4, xenogeneic cross-immune protein PCIA3,
• Gene location: 1q24.1 (82418346: 82442644)     Exons: 16     NC_000017.11
• Gene summary(Entrez): This locus encodes a transmembrane protein. Mutations at this locus have been associated with craniofacial dysmorphism, skeletal anomalies, and cognitive disability. Mutations at this locus have also been associated with open angle glaucoma blindness. Alt
• OMIM: 614123

Protein Summary

• Protein general information: Q9UM00  
  • Name: Calcium load activated calcium channel (CLAC channel) (Transmembrane and coiled coil domain containing protein 1) (Transmembrane and coiled coil domains protein 4) (Xenogeneic cross immune protein PCIA3)
  • Length: 239  
  • Mass: 27079
  • Tissue specificity: Widely expressed in adult and fetal tissues, with higher levels in thymus, prostate, testis and small intestine and lower levels in brain, placenta, lung and kidney (PubMed
• Sequence:

  MPRKRKCDLRAVRVGLLLGGGGVYGSRFRFTFPGCRALSPWRVRVQRRRCEMSTMFADTLLIVFISVCTALLAEG
  ITWVLVYRTDKYKRLKAEVEKQSKKLEKKKETITESAGRQQKKKIERQEEKLKNNNRDLSMVRMKSMFAIGFCFT
  ALMGMFNSIFDGRVVAKLPFTPLSYIQGLSHRNLLGDDTTDCSFIFLYILCTMSIRQNIQKILGLAPSRAATKQA
  GGFLGPPPPSGKFS

• Structural information:
  • Interpro: IPR002809  IPR008559  
  • STRING: ENSP00000480514
• Other Databases: GeneCards:  TMCO1  Malacards:  TMCO1

Diseases

Associated diseases	References
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	KEGG:H02415
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	KEGG:H02415
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)