Cblif cobalamin binding intrinsic factor [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cblifprovided by MGI
Official Full Name: cobalamin binding intrinsic factorprovided by MGI
Primary source: MGI:MGI:1202394
See related: Ensembl:ENSMUSG00000024682 AllianceGenome:MGI:1202394
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: IF; Gif; INF
Summary: Predicted to enable cobalamin binding activity. Involved in cobalamin metabolic process. Predicted to be located in apical plasma membrane; endosome; and microvillus. Predicted to be active in extracellular space. Is expressed in stomach and stomach glandular region. Human ortholog(s) of this gene implicated in congenital intrinsic factor deficiency and pernicious anemia. Orthologous to human CBLIF (cobalamin binding intrinsic factor). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward stomach adult (RPKM 445.2) See more
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Genomic context

Location:: 19 A; 19 8.51 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (11724907..11740811)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (11747543..11763447)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Spasmolytic polypeptide/trefoil factor family 2 (TFF2)-expressing metaplasia (SPEM)was immunoreactive for TFF2, Mist1 and intrinsic factor, suggesting that SPEM derived from transdifferentiation of chief cells.
Title: A molecular signature of gastric metaplasia arising in response to acute parietal cell loss.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1)
Endonuclease-mediated (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:493333

Gif (e-PCR), detects polymorphism
- UniSTS:143207

NoName (e-PCR)
- UniSTS:225149

Gif (e-PCR), detects polymorphism
- UniSTS:526996

L24191 (e-PCR)
- UniSTS:181204

AV073125 (e-PCR)
- UniSTS:181206

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables cargo receptor ligand activity	IDA Inferred from Direct Assay more info	PubMed
enables cargo receptor ligand activity	ISO Inferred from Sequence Orthology more info
enables cobalamin binding	IBA Inferred from Biological aspect of Ancestor more info
enables cobalamin binding	IDA Inferred from Direct Assay more info	PubMed
enables cobalamin binding	ISO Inferred from Sequence Orthology more info
enables molecular carrier activity	IDA Inferred from Direct Assay 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	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cobalt ion transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in endosome	ISO Inferred from Sequence Orthology more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
is_active_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in microvillus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: cobalamin binding intrinsic factor

Names: gastric intrinsic factor; intrinsic factor

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_008118.3 → NP_032144.2 cobalamin binding intrinsic factor precursor

See identical proteins and their annotated locations for NP_032144.2

Status: VALIDATED

Source sequence(s)

AK078933

Consensus CDS

CCDS29609.1

UniProtKB/Swiss-Prot

P52787, Q8C5C1

Related

ENSMUSP00000025585.4, ENSMUST00000025585.4

Conserved Domains (2) summary

pfam01122
Location:24 → 306

Cobalamin_bind; Eukaryotic cobalamin-binding protein

pfam14478
Location:341 → 415

DUF4430; Domain of unknown function (DUF4430)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000085.7 Reference GRCm39 C57BL/6J

Range

11724907..11740811

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006526688.2 → XP_006526751.1 cobalamin binding intrinsic factor isoform X1

Conserved Domains (1) summary

pfam01122
Location:8 → 307

Cobalamin_bind; Eukaryotic cobalamin-binding protein