Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Interferon-induced transmembrane protein 5

Gene

IFITM5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Required for normal bone mineralization.1 Publication

GO - Biological processi

  • bone mineralization Source: UniProtKB
  • bone morphogenesis Source: UniProtKB
  • in utero embryonic development Source: Ensembl
  • regulation of bone mineralization Source: UniProtKB-KW
  • response to biotic stimulus Source: InterPro
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Mineral balance

Enzyme and pathway databases

BioCyciZFISH:G66-32110-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Interferon-induced transmembrane protein 5
Alternative name(s):
Bone-restricted interferon-induced transmembrane protein-like protein
Short name:
BRIL
Dispanin subfamily A member 1
Short name:
DSPA1
Gene namesi
Name:IFITM5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:16644. IFITM5.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 36ExtracellularSequence analysisAdd BLAST36
Transmembranei37 – 57HelicalSequence analysisAdd BLAST21
Topological domaini58 – 86CytoplasmicSequence analysisAdd BLAST29
Transmembranei87 – 107HelicalSequence analysisAdd BLAST21
Topological domaini108 – 132ExtracellularSequence analysisBy similarityAdd BLAST25

GO - Cellular componenti

  • integral component of plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Osteogenesis imperfecta 5 (OI5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI5 patients manifest moderate to severe bone fragility, calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation.
See also OMIM:610967
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07188940S → L in OI5; correlates with reduced expression and barely detectable secretion of SERPINF1. 1 PublicationCorresponds to variant rs786201032dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Osteogenesis imperfecta

Organism-specific databases

DisGeNETi387733.
MalaCardsiIFITM5.
MIMi610967. phenotype.
OpenTargetsiENSG00000206013.
Orphaneti216828. Osteogenesis imperfecta type 5.
PharmGKBiPA162391894.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003051031 – 132Interferon-induced transmembrane protein 5Add BLAST132

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi50S-palmitoyl cysteineBy similarity1
Lipidationi51S-palmitoyl cysteineBy similarity1
Lipidationi84S-palmitoyl cysteineBy similarity1

Post-translational modificationi

Palmitoylated.By similarity

Keywords - PTMi

Lipoprotein, Palmitate

Proteomic databases

PaxDbiA6NNB3.
PRIDEiA6NNB3.

PTM databases

iPTMnetiA6NNB3.
PhosphoSitePlusiA6NNB3.
SwissPalmiA6NNB3.

Expressioni

Tissue specificityi

Detected in bone (PubMed:24058703). Detected in osteoblasts and fibroblasts (at protein level) (PubMed:24519609). Detected in bone (PubMed:24058703). Detected in osteoblasts and fibroblasts (PubMed:24519609).2 Publications

Gene expression databases

BgeeiENSG00000206013.
CleanExiHS_IFITM5.

Organism-specific databases

HPAiHPA039258.

Interactioni

Subunit structurei

Interacts with FKBP11.By similarity

Protein-protein interaction databases

STRINGi9606.ENSP00000372059.

Structurei

3D structure databases

ProteinModelPortaliA6NNB3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the CD225/Dispanin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IZ40. Eukaryota.
ENOG410YP9N. LUCA.
GeneTreeiENSGT00390000003476.
HOGENOMiHOG000115781.
HOVERGENiHBG053217.
InParanoidiA6NNB3.
KOiK06566.
OMAiTSYPRED.
OrthoDBiEOG091G1143.
PhylomeDBiA6NNB3.
TreeFamiTF334894.

Family and domain databases

InterProiIPR007593. CD225/Dispanin_fam.
[Graphical view]
PfamiPF04505. CD225. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

A6NNB3-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDTAYPREDT RAPTPSKAGA HTALTLGAPH PPPRDHLIWS VFSTLYLNLC
60 70 80 90 100
CLGFLALAYS IKARDQKVVG DLEAARRFGS KAKCYNILAA MWTLVPPLLL
110 120 130
LGLVVTGALH LARLAKDSAA FFSTKFDDAD YD
Length:132
Mass (Da):14,378
Last modified:July 24, 2007 - v1
Checksum:i4AB8089B88507024
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06217027G → A.Corresponds to variant rs57285449dbSNPEnsembl.1
Natural variantiVAR_07188940S → L in OI5; correlates with reduced expression and barely detectable secretion of SERPINF1. 1 PublicationCorresponds to variant rs786201032dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CH471278 Genomic DNA. Translation: EAW61222.1.
BC150562 mRNA. Translation: AAI50563.1.
BC150563 mRNA. Translation: AAI50564.1.
CCDSiCCDS31323.1.
RefSeqiNP_001020466.1. NM_001025295.2.
UniGeneiHs.443469.

Genome annotation databases

EnsembliENST00000382614; ENSP00000372059; ENSG00000206013.
GeneIDi387733.
KEGGihsa:387733.
UCSCiuc001low.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CH471278 Genomic DNA. Translation: EAW61222.1.
BC150562 mRNA. Translation: AAI50563.1.
BC150563 mRNA. Translation: AAI50564.1.
CCDSiCCDS31323.1.
RefSeqiNP_001020466.1. NM_001025295.2.
UniGeneiHs.443469.

3D structure databases

ProteinModelPortaliA6NNB3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000372059.

PTM databases

iPTMnetiA6NNB3.
PhosphoSitePlusiA6NNB3.
SwissPalmiA6NNB3.

Proteomic databases

PaxDbiA6NNB3.
PRIDEiA6NNB3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000382614; ENSP00000372059; ENSG00000206013.
GeneIDi387733.
KEGGihsa:387733.
UCSCiuc001low.3. human.

Organism-specific databases

CTDi387733.
DisGeNETi387733.
GeneCardsiIFITM5.
HGNCiHGNC:16644. IFITM5.
HPAiHPA039258.
MalaCardsiIFITM5.
MIMi610967. phenotype.
614757. gene.
neXtProtiNX_A6NNB3.
OpenTargetsiENSG00000206013.
Orphaneti216828. Osteogenesis imperfecta type 5.
PharmGKBiPA162391894.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IZ40. Eukaryota.
ENOG410YP9N. LUCA.
GeneTreeiENSGT00390000003476.
HOGENOMiHOG000115781.
HOVERGENiHBG053217.
InParanoidiA6NNB3.
KOiK06566.
OMAiTSYPRED.
OrthoDBiEOG091G1143.
PhylomeDBiA6NNB3.
TreeFamiTF334894.

Enzyme and pathway databases

BioCyciZFISH:G66-32110-MONOMER.

Miscellaneous databases

GenomeRNAii387733.
PROiA6NNB3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000206013.
CleanExiHS_IFITM5.

Family and domain databases

InterProiIPR007593. CD225/Dispanin_fam.
[Graphical view]
PfamiPF04505. CD225. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiIFM5_HUMAN
AccessioniPrimary (citable) accession number: A6NNB3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: July 24, 2007
Last modified: November 2, 2016
This is version 71 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.