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

    Gene ID: 2694, updated on 17-Jun-2024

    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; AllianceGenome:HGNC:4268
    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
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (59829273..59845499, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (59780568..59796806, complement)
    105.20220307 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 ATAC-STARR-seq lymphoblastoid active region 4761 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4762 Neighboring gene mitochondrial ribosomal protein L16 Neighboring gene transcobalamin 1 Neighboring gene MPRA-validated peak1283 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr11:59644313-59644513 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cargo receptor ligand activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables cobalamin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cobalamin transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cobalamin transport TAS
    Traceable Author Statement
    more info
     
    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 extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
      B2RAN8, B4DVZ1, 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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      59829273..59845499 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544939.4XP_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)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      59780568..59796806 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368420.1XP_054224395.1  cobalamin binding intrinsic factor isoform X1