Format

Send to:

Choose Destination

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

Gene ID: 2694, updated on 25-Nov-2021

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
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See CBLIF in Genome Data Viewer
Location:
11q12.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (59829268..59845501, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (59596746..59612972, 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 oocyte secreted protein family member 3

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cobalamin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables cobalamin binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cobalamin metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in cobalamin transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cobalamin transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cobalt ion transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in endosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in endosome TAS
Traceable Author Statement
more info
 
located_in extracellular region TAS
Traceable Author Statement
more info
 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
located_in lysosomal lumen TAS
Traceable Author Statement
more info
 
located_in microvillus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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
    5003..21229
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005142.3NP_005133.2  cobalamin binding 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, ENST00000257248.3
    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 Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011544939.3XP_011543241.1  cobalamin binding intrinsic factor isoform X1

    Conserved Domains (2) summary
    pfam01122
    Location:8293
    Cobalamin_bind; Eukaryotic cobalamin-binding protein
    pfam14478
    Location:326401
    DUF4430; Domain of unknown function (DUF4430)
Support Center