CBLIF

Protein identityUniProt · HPA

UniProt accession

P27352

Gene

CBLIF

Ensembl

ENSG00000134812

Chromosome

11

Canonical length

417 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Predicted secreted proteins

Secretome location

Secreted to digestive system

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

417 residues, UniProt reviewed canonical sequence.

>P27352|CBLIF
     1  MAWFALYLLS LLWATAGTST QTQSSCSVPS AQEPLVNGIQ VLMENSVTSS AYPNPSILIA
    61  MNLAGAYNLK AQKLLTYQLM SSDNNDLTIG QLGLTIMALT SSCRDPGDKV SILQRQMENW
   121  APSSPNAEAS AFYGPSLAIL ALCQKNSEAT LPIAVRFAKT LLANSSPFNV DTGAMATLAL
   181  TCMYNKIPVG SEEGYRSLFG QVLKDIVEKI SMKIKDNGII GDIYSTGLAM QALSVTPEPS
   241  KKEWNCKKTT DMILNEIKQG KFHNPMSIAQ ILPSLKGKTY LDVPQVTCSP DHEVQPTLPS
   301  NPGPGPTSAS NITVIYTINN QLRGVELLFN ETINVSVKSG SVLLVVLEEA QRKNPMFKFE
   361  TTMTSWGLVV SSINNIAENV NHKTYWQFLS GVTPLNEGVA DYIPFNHEHI TANFTQY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CBLIF can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.28

Highest tissue expression

1,485 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CBLIF.

Disease | AllUniProt

Conditions CBLIF is implicated in, by any mechanism.

• Hereditary intrinsic factor deficiency (IFD) MIM:261000

Disease | GeneticClinVar

15 pathogenic / likely-pathogenic of 175 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hereditary intrinsic factor deficiency
• See cases
• Acute myeloid leukemia

Disease | AutoantibodyPubMed

Conditions in which antibodies against CBLIF are reported. Each links to that disease's full target list.

• Diabetes Mellitus, Type 1 9
• Thyroiditis, Autoimmune 5
• Anemia 4
• Polyendocrinopathies, Autoimmune 4
• Arthritis, Rheumatoid 3
• Celiac Disease 3
• Hyperthyroidism 3
• Hypothyroidism 3

Showing 8 of 17 — disease pages carrying at least 10 antigens.

ReferencesPubMed · IEDB

Publications for CBLIF from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.82

gnomAD pLI

0

DepMap mean gene effect

-0.01

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cobalamin transport
• cobalt ion transport

Molecular functions

• cargo receptor ligand activity
• cobalamin binding
• molecular carrier activity

Cellular components

• apical plasma membrane
• endosome
• extracellular region
• extracellular space
• lysosomal lumen
• microvillus

Protein domainsUniProt · Pfam · InterPro

• Cobalamin (vitamin B12)-binding protein
• Eukaryotic Cobalamin Transport
• Eukaryotic cobalamin-binding protein

KeywordsUniProt

• Cobalt
• Cobalt transport
• Disulfide bond
• Glycoprotein
• Ion transport
• Phosphoprotein
• Secreted
• Signal
• Transport

InteractionsUniProt · HPA

Protein binding partners of CBLIF in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CUBN