• Gene id: 6947

Gene Summary

• Gene Symbol: TCN1   Gene   UCSC   Ensembl
• Aliases: HC, TC-1, TC1, TCI
• Gene name: transcobalamin 1
• Alternate names: transcobalamin-1, haptocorin, haptocorrin, protein R, transcobalamin I (vitamin B12 binding protein, R binder family),
• Gene location: 11q12.1 (59866486: 59852807)     Exons: 9     NC_000011.10
• Gene summary(Entrez): This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This protein is a major constituent of secondary granules in neutrophils
• OMIM: 189905

Protein Summary

• Protein general information: P20061  
  • Name: Transcobalamin 1 (TC 1) (Haptocorrin) (HC) (Protein R) (Transcobalamin I) (TC I) (TCI)
  • Length: 433  
  • Mass: 48207
  • Tissue specificity: Produced by the salivary glands of the oral cavity, in response to ingestion of food. Major constituent of secondary granules in neutrophils. {ECO
• Sequence:

  MRQSHQLPLVGLLLFSFIPSQLCEICEVSEENYIRLKPLLNTMIQSNYNRGTSAVNVVLSLKLVGIQIQTLMQKM
  IQQIKYNVKSRLSDVSSGELALIILALGVCRNAEENLIYDYHLIDKLENKFQAEIENMEAHNGTPLTNYYQLSLD
  VLALCLFNGNYSTAEVVNHFTPENKNYYFGSQFSVDTGAMAVLALTCVKKSLINGQIKADEGSLKNISIYTKSLV
  EKILSEKKENGLIGNTFSTGEAMQALFVSSDYYNENDWNCQQTLNTVLTEISQGAFSNPNAAAQVLPALMGKTFL
  DINKDSSCVSASGNFNISADEPITVTPPDSQSYISVNYSVRINETYFTNVTVLNGSVFLSVMEKAQKMNDTIFGF
  TMEERSWGPYITCIQGLCANNNDRTYWELLSGGEPLSQGAGSYVVRNGENLEVRWSKY

• Structural information:
  • Interpro: IPR002157  IPR027954  
  • Prosite: PS00468
  • PDB: 2CKV 4KKI 4KKJ
  • PDBsum: 2CKV 4KKI 4KKJ
  • STRING: ENSP00000257264
• Other Databases: GeneCards:  TCN1  Malacards:  TCN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031419	cobalamin binding	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0015889	cobalamin transport	IBA	biological process
GO:0015889	cobalamin transport	IEA	biological process
GO:0031419	cobalamin binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0006824	cobalt ion transport	IEA	biological process
GO:0015889	cobalamin transport	TAS	biological process
GO:0043312	neutrophil degranulation	TAS	biological process
GO:1904724	tertiary granule lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0009235	cobalamin metabolic process	TAS	biological process
GO:0035580	specific granule lumen	TAS	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005615	extracellular space	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881