Cblif MGI Mouse Gene Detail - MGI:1202394 - cobalamin binding intrinsic factor

Symbol

Cblif
Name

cobalamin binding intrinsic factor
Synonyms

Gif

Feature Type

protein coding gene
IDs

MGI:1202394
NCBI Gene: 14603
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr19:11724918-11740811 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 8.51 cM
Mapping Data

3 experiments

SNPs within 2kb

548 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1202394	protein coding gene	Chr19:11724907-11740811 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0024884	protein coding gene	Chr19:9133448-9151957 (+)
A/J	MGP_AJ_G0024858	protein coding gene	Chr19:8623304-8640721 (+)
AKR/J	MGP_AKRJ_G0024833	protein coding gene	Chr19:8949298-8965304 (+)
BALB/cJ	MGP_BALBcJ_G0024858	protein coding gene	Chr19:8626261-8642085 (+)
C3H/HeJ	MGP_C3HHeJ_G0024624	protein coding gene	Chr19:8845841-8863034 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0025306	protein coding gene	Chr19:9586524-9602819 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022732	protein coding gene	Chr19:9210230-9226820 (+)
CAST/EiJ	MGP_CASTEiJ_G0024097	protein coding gene	Chr19:8442876-8458057 (+)
CBA/J	MGP_CBAJ_G0024598	protein coding gene	Chr19:9654557-9670899 (+)
DBA/2J	MGP_DBA2J_G0024725	protein coding gene	Chr19:8588316-8603817 (+)
FVB/NJ	MGP_FVBNJ_G0024692	protein coding gene	Chr19:8620337-8635588 (+)
LP/J	MGP_LPJ_G0024812	protein coding gene	Chr19:9138458-9154847 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024719	protein coding gene	Chr19:9564500-9580653 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025354	protein coding gene	Chr19:8933232-8948965 (+)
PWK/PhJ	MGP_PWKPhJ_G0023841	protein coding gene	Chr19:8054628-8070990 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0023647	protein coding gene	Chr19:8106533-8123724 (+)
WSB/EiJ	MGP_WSBEiJ_G0024159	protein coding gene	Chr19:8783196-8799710 (+)

Human Ortholog

CBLIF, cobalamin binding intrinsic factor

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CBLIF, cobalamin binding intrinsic factor
Synonyms

GIF, IF, IFMH, INF, TCN3
Links

HGNC:4268

NCBI Gene ID: 2694

neXtProt AC: NX_P27352

UniProt: P27352
Chr Location

11q12.1; chr11:59829273-59845499 (-) GRCh38

MGI Vertebrate Homology

Cblif stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: CBLIF
Gene Tree

Cblif

Diseases

2 with human CBLIF associations

				Human Disease	Mouse Models
				congenital intrinsic factor deficiency IDs congenital intrinsic factor deficiency DOID:0050734 OMIM:261000
				pernicious anemia IDs pernicious anemia DOID:13381 ICD10CM:D51.0 ICD9CM:281.0 MESH:D000752 NCI:C2871 OMIM:170900 UMLS_CUI:C0002892

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

19 phenotypes from 1 allele in 1 genetic background
13 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

8
Endonuclease-mediated

5
Targeted

3
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

30 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit vitamin B12-sensitive susceptibility to bacterial infection and reduced body weight and altered blood chemistry that can be compensated by maternal effect.

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All GO Annotations

22
GO References

7

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

731
Tissues

18
cDNA Data

6
Literature Summary

16

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

32
RefSeq

4
UniProt

1
CCDS

CCDS29609.1

Ensembl

ENSMUSG00000024682 (Evidence)
NCBI Gene

14603

			Length	Strain/Species	Flank
genomic	ENSMUSG00000024682	Ensembl Gene Model \| MGI Sequence Detail	15894	C57BL/6J	± kb
transcript	ENSMUST00000025585	Ensembl \| MGI Sequence Detail	1537	Not Applicable
polypeptide	ENSMUSP00000025585	Ensembl \| MGI Sequence Detail	417	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000007975 cobalamin binding intrinsic factor

(term hierarchy)
InterPro Domains

IPR002157 Cobalamin (vitamin B12)-binding protein

IPR051588 Eukaryotic Cobalamin Transport
GlyGen

P52787 3 sites

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All nucleic 12

Genomic 2

cDNA 6

Primer pair 4

Microarray probesets 3

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MGI:2147670, MGI:6277135

Summaries

All 54

Developmental Gene Expression 16

Gene Ontology 7

Phenotypes 13
Earliest

J:319880 Coffey JW, et al., Studies on the Interaction of Vitamin B12: Intrinsic Factor and Receptors. Arch Biochem Biophys. 1965 Apr;110:117-123
Latest

J:346390 Won Y, et al., Oncogenic Fatty Acid Metabolism Rewires Energy Supply Chain in Gastric Carcinogenesis. Gastroenterology. 2024 Jan 24;

TSS for Cblif:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr155268	Chr19:11724912-11724945 (+)	11 bp
Tssr155269	Chr19:11724947-11724968 (+)	40 bp
Tssr155270	Chr19:11725817-11725844 (+)	913 bp
Tssr155271	Chr19:11727357-11727360 (+)	2,441 bp
Tssr155272	Chr19:11727617-11727627 (+)	2,704 bp
Tssr155273	Chr19:11733147-11733175 (+)	8,243 bp
Tssr155274	Chr19:11733218-11733229 (+)	8,306 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/17/2024 MGI 6.24