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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

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)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 3636ExtracellularSequence analysisAdd
BLAST
Transmembranei37 – 5721HelicalSequence analysisAdd
BLAST
Topological domaini58 – 8629CytoplasmicSequence analysisAdd
BLAST
Transmembranei87 – 10721HelicalSequence analysisAdd
BLAST
Topological domaini108 – 13225ExtracellularSequence analysisBy similarityAdd
BLAST

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti40 – 401S → L in OI5; correlates with reduced expression and barely detectable secretion of SERPINF1. 1 Publication
VAR_071889

Keywords - Diseasei

Disease mutation, Osteogenesis imperfecta

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 132132Interferon-induced transmembrane protein 5PRO_0000305103Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Lipidationi50 – 501S-palmitoyl cysteineBy similarity
Lipidationi51 – 511S-palmitoyl cysteineBy similarity
Lipidationi84 – 841S-palmitoyl cysteineBy similarity

Post-translational modificationi

Palmitoylated.By similarity

Keywords - PTMi

Lipoprotein, Palmitate

Proteomic databases

PaxDbiA6NNB3.
PRIDEiA6NNB3.

PTM databases

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

BgeeiA6NNB3.
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.
OrthoDBiEOG7288T5.
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti27 – 271G → A.
Corresponds to variant rs57285449 [ dbSNP | Ensembl ].
VAR_062170
Natural varianti40 – 401S → L in OI5; correlates with reduced expression and barely detectable secretion of SERPINF1. 1 Publication
VAR_071889

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

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

Phylogenomic databases

eggNOGiENOG410IZ40. Eukaryota.
ENOG410YP9N. LUCA.
GeneTreeiENSGT00390000003476.
HOGENOMiHOG000115781.
HOVERGENiHBG053217.
InParanoidiA6NNB3.
KOiK06566.
OMAiTSYPRED.
OrthoDBiEOG7288T5.
PhylomeDBiA6NNB3.
TreeFamiTF334894.

Miscellaneous databases

GenomeRNAii387733.
NextBioi101561.
PROiA6NNB3.
SOURCEiSearch...

Gene expression databases

BgeeiA6NNB3.
CleanExiHS_IFITM5.

Family and domain databases

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

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. Cited for: INVOLVEMENT IN OI5.
  4. "The dispanins: a novel gene family of ancient origin that contains 14 human members."
    Sallman Almen M., Bringeland N., Fredriksson R., Schioth H.B.
    PLoS ONE 7:E31961-E31961(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: GENE FAMILY.
  5. "Role of S-palmitoylation on IFITM5 for the interaction with FKBP11 in osteoblast cells."
    Tsukamoto T., Li X., Morita H., Minowa T., Aizawa T., Hanagata N., Demura M.
    PLoS ONE 8:E75831-E75831(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  6. "A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor."
    Farber C.R., Reich A., Barnes A.M., Becerra P., Rauch F., Cabral W.A., Bae A., Quinlan A., Glorieux F.H., Clemens T.L., Marini J.C.
    J. Bone Miner. Res. 29:1402-1411(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT OI5 LEU-40, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, FUNCTION.

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: March 16, 2016
This is version 66 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.