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Protein

Interferon-induced transmembrane protein 5

Gene

IFITM5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Molecular functionDevelopmental protein
Biological processMineral balance

Enzyme and pathway databases

SIGNORiA6NNB3

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

EuPathDBiHostDB:ENSG00000206013.2
HGNCiHGNC:16644 IFITM5
MIMi614757 gene
neXtProtiNX_A6NNB3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Osteogenesis imperfecta 5 (OI5)2 Publications
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 dbSNP:rs786201032EnsemblClinVar.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
ProteomicsDBi1596

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 Expressed in 54 organ(s), highest expression level in body of pancreas
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
SMRiA6NNB3
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
OMAiTKFDDAD
OrthoDBiEOG091G1143
PhylomeDBiA6NNB3
TreeFamiTF334894

Family and domain databases

InterProiView protein in InterPro
IPR007593 CD225/Dispanin_fam
PfamiView protein in Pfam
PF04505 CD225, 1 hit

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 dbSNP:rs57285449EnsemblClinVar.1
Natural variantiVAR_07188940S → L in OI5; correlates with reduced expression and barely detectable secretion of SERPINF1. 1 PublicationCorresponds to variant dbSNP:rs786201032EnsemblClinVar.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

Similar proteinsi

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
SMRiA6NNB3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000372059

PTM databases

iPTMnetiA6NNB3
PhosphoSitePlusiA6NNB3
SwissPalmiA6NNB3

Proteomic databases

PaxDbiA6NNB3
PRIDEiA6NNB3
ProteomicsDBi1596

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi387733
DisGeNETi387733
EuPathDBiHostDB:ENSG00000206013.2
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
OMAiTKFDDAD
OrthoDBiEOG091G1143
PhylomeDBiA6NNB3
TreeFamiTF334894

Enzyme and pathway databases

SIGNORiA6NNB3

Miscellaneous databases

GenomeRNAii387733
PROiPR:A6NNB3
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000206013 Expressed in 54 organ(s), highest expression level in body of pancreas
CleanExiHS_IFITM5

Family and domain databases

InterProiView protein in InterPro
IPR007593 CD225/Dispanin_fam
PfamiView protein in Pfam
PF04505 CD225, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiIFM5_HUMAN
AccessioniPrimary (citable) accession number: A6NNB3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: July 24, 2007
Last modified: November 7, 2018
This is version 80 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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