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CBLIF cobalamin binding intrinsic factor [ Homo sapiens (human) ]

Gene ID: 2694, updated on 18-Oct-2018

Summary

Official Symbol
CBLIFprovided by HGNC
Official Full Name
cobalamin binding intrinsic factorprovided by HGNC
Primary source
HGNC:HGNC:4268
See related
Ensembl:ENSG00000134812 MIM:609342; Vega:OTTHUMG00000167399
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
IF; GIF; INF; IFMH; TCN3
Summary
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 mutations in this gene may lead to congenital pernicious anemia. [provided by RefSeq, Jul 2008]
Annotation information
Note: GIF (Gene ID: 2694) and MT3 (Gene ID: 4504) share the GIF symbol/alias in common. GIF is a widely used alternative name for metallothionein 3 (MT3), which can be confused with the official symbol for GIF (gastric intrinsic factor, GeneID 2694). [01 Jun 2018]
Expression
Restricted expression toward stomach (RPKM 444.5) See more
Orthologs

Genomic context

See CBLIF in Genome Data Viewer
Location:
11q12.1
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (59829268..59845501, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (59596746..59612974, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene syntaxin 3 Neighboring gene fatty acid binding protein 5 pseudogene 7 Neighboring gene mitochondrial ribosomal protein L16 Neighboring gene transcobalamin 1 Neighboring gene steroid 5 alpha-reductase 3 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Cobalamin (Cbl, vitamin B12) transport and metabolism, organism-specific biosystem (from REACTOME)
    Cobalamin (Cbl, vitamin B12) transport and metabolism, organism-specific biosystemVitamin B12 (cobalamin, Cbl) is a water-soluble vitamin with a key role in blood formation and normal functioning of the brain and nervous system. Cbl consists of a planar corrin ring coordinating wi...
  • Defective AMN causes hereditary megaloblastic anemia 1, organism-specific biosystem (from REACTOME)
    Defective AMN causes hereditary megaloblastic anemia 1, organism-specific biosystemDefects in AMN cause recessive hereditary megaloblastic anemia 1 (RH-MGA1 aka MGA1 Norwegian type or Imerslund-Grasbeck syndrome, I-GS; MIM:261100). The Norwegian cases described by Imerslund were du...
  • Defective CUBN causes hereditary megaloblastic anemia 1, organism-specific biosystem (from REACTOME)
    Defective CUBN causes hereditary megaloblastic anemia 1, organism-specific biosystemDefects in the CUBN gene cause recessive hereditary megaloblastic anemia 1 (RH-MGA1 aka MGA1 Finnish type or Imerslund-Grasbeck syndrome, I-GS; MIM:261100). The Finnish cases described by Grasbeck et...
  • Defective GIF causes intrinsic factor deficiency, organism-specific biosystem (from REACTOME)
    Defective GIF causes intrinsic factor deficiency, organism-specific biosystemDefects in GIF cause hereditary intrinsic factor deficiency (IFD, aka congenital pernicious anemia; MIM:261000). IFD is an autosomal recessive disorder characterized by megaloblastic anemia (Tanner e...
  • Defects in cobalamin (B12) metabolism, organism-specific biosystem (from REACTOME)
    Defects in cobalamin (B12) metabolism, organism-specific biosystemCobalamin (Cbl, vitamin B12) is a nutrient essential for normal functioning of the brain and nervous system and for the formation of blood. Cbl-dependent methionine synthase (MTR) is required for con...
  • Defects in vitamin and cofactor metabolism, organism-specific biosystem (from REACTOME)
    Defects in vitamin and cofactor metabolism, organism-specific biosystemVitamins are essential nutrients, required in small amounts from the diet for the normal growth and development of a multicellular organism. Where there is vitamin deficiency, either by poor diet or ...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases of metabolism, organism-specific biosystem (from REACTOME)
    Diseases of metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Gastric acid production, organism-specific biosystem (from WikiPathways)
    Gastric acid production, organism-specific biosystemGastric acid forms a protective buffer against pathogenic agents. It is also essential in the digestion of the food. The stomach wall is protected to the high acidity by a mucus layer and bicarbonate...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of vitamins and cofactors, organism-specific biosystem (from REACTOME)
    Metabolism of vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, classified according to their solubility, either fat-soluble or water-soluble, that are either not synthesized or synthesized only in limited amount...
  • Metabolism of water-soluble vitamins and cofactors, organism-specific biosystem (from REACTOME)
    Metabolism of water-soluble vitamins and cofactors, organism-specific biosystemVitamins are a diverse group of organic compounds, required in small amounts in the diet. They have distinct biochemical roles, often as coenzymes, and are either not synthesized or synthesized only ...
  • Vitamin B12 Metabolism, organism-specific biosystem (from WikiPathways)
    Vitamin B12 Metabolism, organism-specific biosystem
    Vitamin B12 Metabolism
  • Vitamin digestion and absorption, organism-specific biosystem (from KEGG)
    Vitamin digestion and absorption, organism-specific biosystemVitamins are a diverse and chemically unrelated group of organic substances that share a common feature of being essential for normal health and well-being. They catalyze numerous biochemical reactio...
  • Vitamin digestion and absorption, conserved biosystem (from KEGG)
    Vitamin digestion and absorption, conserved biosystemVitamins are a diverse and chemically unrelated group of organic substances that share a common feature of being essential for normal health and well-being. They catalyze numerous biochemical reactio...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cobalamin binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cobalamin metabolic process TAS
Traceable Author Statement
more info
 
cobalamin transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
cobalt ion transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
endosome IDA
Inferred from Direct Assay
more info
PubMed 
endosome TAS
Traceable Author Statement
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal lumen TAS
Traceable Author Statement
more info
 
microvillus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
gastric intrinsic factor
Names
gastric intrinsic factor (vitamin B synthesis)
intrinsic factor

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008120.1 RefSeqGene

    Range
    5001..21229
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005142.2NP_005133.2  gastric intrinsic factor precursor

    See identical proteins and their annotated locations for NP_005133.2

    Status: REVIEWED

    Source sequence(s)
    BC037958
    Consensus CDS
    CCDS7977.1
    UniProtKB/Swiss-Prot
    P27352
    Related
    ENSP00000257248.2, OTTHUMP00000235877, ENST00000257248.2, OTTHUMT00000394497
    Conserved Domains (2) summary
    pfam01122
    Location:24306
    Cobalamin_bind; Eukaryotic cobalamin-binding protein
    pfam14478
    Location:341415
    DUF4430; Domain of unknown function (DUF4430)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    59829268..59845501 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544939.3XP_011543241.1  gastric intrinsic factor isoform X1

    Conserved Domains (2) summary
    pfam01122
    Location:24292
    Cobalamin_bind; Eukaryotic cobalamin-binding protein
    pfam14478
    Location:327401
    DUF4430; Domain of unknown function (DUF4430)
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