IFM5_HUMAN
ID IFM5_HUMAN Reviewed; 132 AA.
AC A6NNB3;
DT 02-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 24-JUL-2007, sequence version 1.
DT 03-AUG-2022, entry version 101.
DE RecName: Full=Interferon-induced transmembrane protein 5;
DE AltName: Full=Bone-restricted interferon-induced transmembrane protein-like protein;
DE Short=BRIL;
DE AltName: Full=Dispanin subfamily A member 1;
DE Short=DSPA1;
GN Name=IFITM5;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [3]
RP INVOLVEMENT IN OI5.
RX PubMed=22863190; DOI=10.1016/j.ajhg.2012.06.005;
RA Cho T.J., Lee K.E., Lee S.K., Song S.J., Kim K.J., Jeon D., Lee G.,
RA Kim H.N., Lee H.R., Eom H.H., Lee Z.H., Kim O.H., Park W.Y., Park S.S.,
RA Ikegawa S., Yoo W.J., Choi I.H., Kim J.W.;
RT "A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis
RT imperfecta type V.";
RL Am. J. Hum. Genet. 91:343-348(2012).
RN [4]
RP GENE FAMILY.
RX PubMed=22363774; DOI=10.1371/journal.pone.0031961;
RA Sallman Almen M., Bringeland N., Fredriksson R., Schioth H.B.;
RT "The dispanins: a novel gene family of ancient origin that contains 14
RT human members.";
RL PLoS ONE 7:E31961-E31961(2012).
RN [5]
RP TISSUE SPECIFICITY.
RX PubMed=24058703; DOI=10.1371/journal.pone.0075831;
RA Tsukamoto T., Li X., Morita H., Minowa T., Aizawa T., Hanagata N.,
RA Demura M.;
RT "Role of S-palmitoylation on IFITM5 for the interaction with FKBP11 in
RT osteoblast cells.";
RL PLoS ONE 8:E75831-E75831(2013).
RN [6]
RP VARIANT OI5 LEU-40, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, AND FUNCTION.
RX PubMed=24519609; DOI=10.1002/jbmr.2173;
RA Farber C.R., Reich A., Barnes A.M., Becerra P., Rauch F., Cabral W.A.,
RA Bae A., Quinlan A., Glorieux F.H., Clemens T.L., Marini J.C.;
RT "A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI
RT impairs osteoblast production of pigment epithelium-derived factor.";
RL J. Bone Miner. Res. 29:1402-1411(2014).
CC -!- FUNCTION: Required for normal bone mineralization.
CC {ECO:0000269|PubMed:24519609}.
CC -!- SUBUNIT: Interacts with FKBP11. {ECO:0000250|UniProtKB:O88728}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:24519609};
CC Multi-pass membrane protein {ECO:0000255}.
CC -!- TISSUE SPECIFICITY: Detected in bone (PubMed:24058703). Detected in
CC osteoblasts and fibroblasts (at protein level) (PubMed:24519609).
CC Detected in bone (PubMed:24058703). Detected in osteoblasts and
CC fibroblasts (PubMed:24519609). {ECO:0000269|PubMed:24058703,
CC ECO:0000269|PubMed:24519609}.
CC -!- PTM: Palmitoylated. {ECO:0000250|UniProtKB:O88728}.
CC -!- DISEASE: Osteogenesis imperfecta 5 (OI5) [MIM:610967]: An autosomal
CC dominant form of osteogenesis imperfecta, a connective tissue disorder
CC characterized by low bone mass, bone fragility and susceptibility to
CC fractures after minimal trauma. Disease severity ranges from very mild
CC forms without fractures to intrauterine fractures and perinatal
CC lethality. Extraskeletal manifestations, which affect a variable number
CC of patients, are dentinogenesis imperfecta, hearing loss, and blue
CC sclerae. OI5 patients manifest moderate to severe bone fragility,
CC calcification of the forearm interosseous membrane, radial head
CC dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic
CC callus formation. {ECO:0000269|PubMed:22863190,
CC ECO:0000269|PubMed:24519609}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the CD225/Dispanin family. {ECO:0000305}.
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DR EMBL; CH471278; EAW61222.1; -; Genomic_DNA.
DR EMBL; BC150562; AAI50563.1; -; mRNA.
DR EMBL; BC150563; AAI50564.1; -; mRNA.
DR CCDS; CCDS31323.1; -.
DR RefSeq; NP_001020466.1; NM_001025295.2.
DR AlphaFoldDB; A6NNB3; -.
DR SMR; A6NNB3; -.
DR BioGRID; 132416; 10.
DR STRING; 9606.ENSP00000372059; -.
DR iPTMnet; A6NNB3; -.
DR PhosphoSitePlus; A6NNB3; -.
DR SwissPalm; A6NNB3; -.
DR BioMuta; IFITM5; -.
DR PaxDb; A6NNB3; -.
DR PeptideAtlas; A6NNB3; -.
DR PRIDE; A6NNB3; -.
DR ProteomicsDB; 1596; -.
DR Antibodypedia; 41962; 124 antibodies from 20 providers.
DR DNASU; 387733; -.
DR Ensembl; ENST00000382614.2; ENSP00000372059.2; ENSG00000206013.2.
DR GeneID; 387733; -.
DR KEGG; hsa:387733; -.
DR MANE-Select; ENST00000382614.2; ENSP00000372059.2; NM_001025295.3; NP_001020466.1.
DR UCSC; uc001low.3; human.
DR CTD; 387733; -.
DR DisGeNET; 387733; -.
DR GeneCards; IFITM5; -.
DR HGNC; HGNC:16644; IFITM5.
DR HPA; ENSG00000206013; Group enriched (brain, pancreas).
DR MalaCards; IFITM5; -.
DR MIM; 610967; phenotype.
DR MIM; 614757; gene.
DR neXtProt; NX_A6NNB3; -.
DR OpenTargets; ENSG00000206013; -.
DR Orphanet; 216828; Osteogenesis imperfecta type 5.
DR PharmGKB; PA162391894; -.
DR VEuPathDB; HostDB:ENSG00000206013; -.
DR eggNOG; ENOG502RXZM; Eukaryota.
DR GeneTree; ENSGT00950000182857; -.
DR HOGENOM; CLU_124511_2_0_1; -.
DR InParanoid; A6NNB3; -.
DR OMA; SYPREDY; -.
DR OrthoDB; 1555189at2759; -.
DR PhylomeDB; A6NNB3; -.
DR TreeFam; TF334894; -.
DR PathwayCommons; A6NNB3; -.
DR SignaLink; A6NNB3; -.
DR SIGNOR; A6NNB3; -.
DR BioGRID-ORCS; 387733; 8 hits in 1060 CRISPR screens.
DR GenomeRNAi; 387733; -.
DR Pharos; A6NNB3; Tbio.
DR PRO; PR:A6NNB3; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; A6NNB3; protein.
DR Bgee; ENSG00000206013; Expressed in body of pancreas and 61 other tissues.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005887; C:integral component of plasma membrane; IDA:UniProtKB.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:HPA.
DR GO; GO:0005886; C:plasma membrane; IDA:HPA.
DR GO; GO:0030282; P:bone mineralization; IMP:UniProtKB.
DR GO; GO:0060349; P:bone morphogenesis; IMP:UniProtKB.
DR GO; GO:0001701; P:in utero embryonic development; IEA:Ensembl.
DR GO; GO:0030500; P:regulation of bone mineralization; IEA:UniProtKB-KW.
DR InterPro; IPR007593; CD225/Dispanin_fam.
DR Pfam; PF04505; CD225; 1.
PE 1: Evidence at protein level;
KW Cell membrane; Developmental protein; Disease variant; Lipoprotein;
KW Membrane; Mineral balance; Osteogenesis imperfecta; Palmitate;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..132
FT /note="Interferon-induced transmembrane protein 5"
FT /id="PRO_0000305103"
FT TOPO_DOM 1..36
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 37..57
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 58..86
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 87..107
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 108..132
FT /note="Extracellular"
FT /evidence="ECO:0000250|UniProtKB:O88728, ECO:0000255"
FT REGION 1..21
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT LIPID 50
FT /note="S-palmitoyl cysteine"
FT /evidence="ECO:0000250|UniProtKB:O88728"
FT LIPID 51
FT /note="S-palmitoyl cysteine"
FT /evidence="ECO:0000250|UniProtKB:O88728"
FT LIPID 84
FT /note="S-palmitoyl cysteine"
FT /evidence="ECO:0000250|UniProtKB:O88728"
FT VARIANT 27
FT /note="G -> A (in dbSNP:rs57285449)"
FT /id="VAR_062170"
FT VARIANT 40
FT /note="S -> L (in OI5; correlates with reduced expression
FT and barely detectable secretion of SERPINF1;
FT dbSNP:rs786201032)"
FT /evidence="ECO:0000269|PubMed:24519609"
FT /id="VAR_071889"
SQ SEQUENCE 132 AA; 14378 MW; 4AB8089B88507024 CRC64;
MDTAYPREDT RAPTPSKAGA HTALTLGAPH PPPRDHLIWS VFSTLYLNLC CLGFLALAYS
IKARDQKVVG DLEAARRFGS KAKCYNILAA MWTLVPPLLL LGLVVTGALH LARLAKDSAA
FFSTKFDDAD YD
