IFITM5
Interferon-induced transmembrane protein 5
Also known as: BRIL, DSPA1, fragilis4, Hrmp1, IFM5_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- A6NNB3
- Gene
- IFITM5
- Ensembl
- ENSG00000206013
- Chromosome
- 11
- Canonical length
- 132 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted membrane proteins
- Subcellular location
- Vesicles,Plasma membrane,Cytosol
OverviewNCBI Gene
This gene encodes a membrane protein thought to play a role in bone mineralization. This gene is located on chromosome 11 in a cluster of related genes which are induced by interferon, however, this gene has not been shown to be interferon inducible. A similar gene, located in a gene cluster on mouse chromosome 7, is a member of the interferon-inducible fragilis gene family. The mouse gene encodes a transmembrane protein described as participating in germ cell competence. A mutation in the 5' UTR of this gene has been associated with osteogenesis imperfecta type V (PMID: 22863190, 22863195). [provided by RefSeq, Aug 2012]
Canonical amino-acid sequenceUniProt
132 residues, UniProt reviewed canonical sequence.
>A6NNB3|IFITM5
1 MDTAYPREDT RAPTPSKAGA HTALTLGAPH PPPRDHLIWS VFSTLYLNLC CLGFLALAYS
61 IKARDQKVVG DLEAARRFGS KAKCYNILAA MWTLVPPLLL LGLVVTGALH LARLAKDSAA
121 FFSTKFDDAD YDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against IFITM5 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
- Cell surface
- Secreted
- No
- Transmembrane segments
- 2
- Mean surface accessibility (rSASA)
- 0.54
- Highest tissue expression
- 6.9 nTPM
Expression across tissuesHPA
Tissue
- pancreas: 6.9 nTPM
- bone marrow: 0.7 nTPM
- kidney: 0.6 nTPM
- lung: 0.4 nTPM
- small intestine: 0.3 nTPM
- breast: 0.2 nTPM
Single-cell type
- innate lymphoid cells: 0.3 nCPM
- b-cells: 0.2 nCPM
- decidual stromal cells: 0.1 nCPM
- endometrial stromal cells: 0.1 nCPM
- epididymal efferent duct absorptive cells: 0.1 nCPM
- epididymal principal cells: 0.1 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebral cortex: 11 nTPM
- pons: 1.6 nTPM
- thalamus: 0.7 nTPM
- medulla oblongata: 0.6 nTPM
- midbrain: 0.6 nTPM
- amygdala: 0.5 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about IFITM5.
Disease | AllUniProt
Conditions IFITM5 is implicated in, by any mechanism.
- Osteogenesis imperfecta 5 (OI5) MIM:610967
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 181 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Osteogenesis imperfecta type 5
- IFITM5-related disorder
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)
- 1.95
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.67
- DepMap mean gene effect
- -0.06
- DepMap dependency class
- selective
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
- bone mineralization
- bone morphogenesis
- in utero embryonic development
- regulation of bone mineralization
- response to rapamycin
- response to tacrolimus
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of IFITM5 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads IFITM5 as an antibody target. Whether an autoantibody or antibody against IFITM5 could matter depends on whether native IFITM5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
IFITM5 is annotated at the cell surface, where native IFITM5 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label IFITM5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...