• Gene id: 2694

Gene Summary

• Gene Symbol: CBLIF   Gene   UCSC   Ensembl
• Aliases: GIF, IF, IFMH, INF, TCN3
• Gene name: cobalamin binding intrinsic factor
• Alternate names: cobalamin binding intrinsic factor, gastric intrinsic factor (vitamin B synthesis), intrinsic factor,
• Gene location: 11q12.1 (59845500: 59829267)     Exons: 9     NC_000011.10
• Gene summary(Entrez): This gene is a member of the cobalamin transport protein family. It encodes a glycoprotein secreted by parietal cells of the gastric mucosa and is required for adequate absorption of vitamin B12. Vitamin B12 is necessary for erythrocyte maturation and mut
• OMIM: 604889

Protein Summary

• Protein general information: P27352  
  • Name: Cobalamin binding intrinsic factor (Gastric intrinsic factor) (Intrinsic factor) (IF) (INF)
  • Length: 417  
  • Mass: 45416
  • Tissue specificity: Gastric mucosa.
• Sequence:

  MAWFALYLLSLLWATAGTSTQTQSSCSVPSAQEPLVNGIQVLMENSVTSSAYPNPSILIAMNLAGAYNLKAQKLL
  TYQLMSSDNNDLTIGQLGLTIMALTSSCRDPGDKVSILQRQMENWAPSSPNAEASAFYGPSLAILALCQKNSEAT
  LPIAVRFAKTLLANSSPFNVDTGAMATLALTCMYNKIPVGSEEGYRSLFGQVLKDIVEKISMKIKDNGIIGDIYS
  TGLAMQALSVTPEPSKKEWNCKKTTDMILNEIKQGKFHNPMSIAQILPSLKGKTYLDVPQVTCSPDHEVQPTLPS
  NPGPGPTSASNITVIYTINNQLRGVELLFNETINVSVKSGSVLLVVLEEAQRKNPMFKFETTMTSWGLVVSSINN
  IAENVNHKTYWQFLSGVTPLNEGVADYIPFNHEHITANFTQY

• Structural information:
  • Interpro: IPR002157  IPR027954  
  • Prosite: PS00468
  • PDB: 2CKT 2PMV 3KQ4
  • PDBsum: 2CKT 2PMV 3KQ4
  • DIP: 46206
  • STRING: ENSP00000257248
• Other Databases: GeneCards:  CBLIF  Malacards:  CBLIF

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015889	cobalamin transport	IBA	biological process
GO:0005615	extracellular space	IBA	cellular component
GO:0031419	cobalamin binding	IBA	molecular function
GO:0015889	cobalamin transport	IEA	biological process
GO:0031419	cobalamin binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0006824	cobalt ion transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal 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:0005576	extracellular region	TAS	cellular component
GO:0005768	endosome	TAS	cellular component
GO:0005768	endosome	TAS	cellular component
GO:0009235	cobalamin metabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0031419	cobalamin binding	IDA	molecular function
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0005902	microvillus	IDA	cellular component
GO:0005768	endosome	IDA	cellular component
GO:0015889	cobalamin transport	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04977	Vitamin digestion and absorption

Diseases

Associated diseases	References
Vitamin B12 deficiency anaemia	KEGG:H01277
Vitamin B12 deficiency anaemia	KEGG:H01277
Congenital intrinsic factor deficiency	PMID:14695536
Pernicious anemia	PMID:167441
Pernicious anemia	PMID:4434116
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq