LOCUS       NM_001025295             736 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens interferon induced transmembrane protein 5 (IFITM5),
            mRNA.
ACCESSION   NM_001025295 XM_370597
VERSION     NM_001025295.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 736)
  AUTHORS   Maranda,V., Gaumond,M.H. and Moffatt,P.
  TITLE     The Osteogenesis Imperfecta Type V Mutant BRIL/IFITM5 Promotes
            Transcriptional Activation of MEF2, NFATc, and NR4A in Osteoblasts
  JOURNAL   Int J Mol Sci 23 (4), 2148 (2022)
   PUBMED   35216266
  REMARK    GeneRIF: The Osteogenesis Imperfecta Type V Mutant BRIL/IFITM5
            Promotes Transcriptional Activation of MEF2, NFATc, and NR4A in
            Osteoblasts.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 736)
  AUTHORS   Whyte,M.P., Aronson,J., McAlister,W.H., Weinstein,R.S., Wenkert,D.,
            Clements,K.L., Gottesman,G.S., Madson,K.L., Stolina,M.,
            Bijanki,V.N., Plotkin,H., Huskey,M., Duan,S. and Mumm,S.
  TITLE     Coalescing expansile skeletal disease: Delineation of an
            extraordinary osteopathy involving the IFITM5 mutation of
            osteogenesis imperfecta type V
  JOURNAL   Bone 145, 115835 (2021)
   PUBMED   33360005
  REMARK    GeneRIF: Coalescing expansile skeletal disease: Delineation of an
            extraordinary osteopathy involving the IFITM5 mutation of
            osteogenesis imperfecta type V.
REFERENCE   3  (bases 1 to 736)
  AUTHORS   Zhytnik,L., Maasalu,K., Duy,B.H., Pashenko,A., Khmyzov,S.,
            Reimann,E., Prans,E., Koks,S. and Martson,A.
  TITLE     IFITM5 pathogenic variant causes osteogenesis imperfecta V with
            various phenotype severity in Ukrainian and Vietnamese patients
  JOURNAL   Hum Genomics 13 (1), 25 (2019)
   PUBMED   31159867
  REMARK    GeneRIF: We suggest that all patients negative for COL1A1/2
            pathogenic variants be tested for the presence of an IFITM5
            pathogenic variant, even if they are not expressing typical
            osteogenesis imperfecta V symptoms.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 736)
  AUTHORS   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. and
            Marini,J.C.
  TITLE     A novel IFITM5 mutation in severe atypical osteogenesis imperfecta
            type VI impairs osteoblast production of pigment epithelium-derived
            factor
  JOURNAL   J Bone Miner Res 29 (6), 1402-1411 (2014)
   PUBMED   24519609
REFERENCE   5  (bases 1 to 736)
  AUTHORS   Lazarus,S., McInerney-Leo,A.M., McKenzie,F.A., Baynam,G.,
            Broley,S., Cavan,B.V., Munns,C.F., Pruijs,J.E., Sillence,D.,
            Terhal,P.A., Pryce,K., Brown,M.A., Zankl,A., Thomas,G. and
            Duncan,E.L.
  TITLE     The IFITM5 mutation c.-14C > T results in an elongated transcript
            expressed in human bone; and causes varying phenotypic severity of
            osteogenesis imperfecta type V
  JOURNAL   BMC Musculoskelet Disord 15, 107 (2014)
   PUBMED   24674092
  REMARK    GeneRIF: The IFITM5 5' UTR was sequenced in 9 heterozygous subjects
            with osteogenesis imperfecta type V. Both wild-type and mutant
            IFITM5 mRNA transcripts were present in bone. Identical mutations
            have variable phenotypic expression, even within the same family.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 736)
  AUTHORS   Sallman Almen,M., Bringeland,N., Fredriksson,R. and Schioth,H.B.
  TITLE     The dispanins: a novel gene family of ancient origin that contains
            14 human members
  JOURNAL   PLoS One 7 (2), e31961 (2012)
   PUBMED   22363774
REFERENCE   7  (bases 1 to 736)
  AUTHORS   Siegrist,F., Ebeling,M. and Certa,U.
  TITLE     The small interferon-induced transmembrane genes and proteins
  JOURNAL   J Interferon Cytokine Res 31 (1), 183-197 (2011)
   PUBMED   21166591
  REMARK    Review article
REFERENCE   8  (bases 1 to 736)
  AUTHORS   Moffatt,P., Gaumond,M.H., Salois,P., Sellin,K., Bessette,M.C.,
            Godin,E., de Oliveira,P.T., Atkins,G.J., Nanci,A. and Thomas,G.
  TITLE     Bril: a novel bone-specific modulator of mineralization
  JOURNAL   J Bone Miner Res 23 (9), 1497-1508 (2008)
   PUBMED   18442316
REFERENCE   9  (bases 1 to 736)
  AUTHORS   Lange,U.C., Saitou,M., Western,P.S., Barton,S.C. and Surani,M.A.
  TITLE     The fragilis interferon-inducible gene family of transmembrane
            proteins is associated with germ cell specification in mice
  JOURNAL   BMC Dev Biol 3, 1 (2003)
   PUBMED   12659663
REFERENCE   10 (bases 1 to 736)
  AUTHORS   Baird,J.W., Ryan,K.M., Hayes,I., Hampson,L., Heyworth,C.M.,
            Clark,A., Wootton,M., Ansell,J.D., Menzel,U., Hole,N. and
            Graham,G.J.
  TITLE     Differentiating embryonal stem cells are a rich source of
            haemopoietic gene products and suggest erythroid preconditioning of
            primitive haemopoietic stem cells
  JOURNAL   J Biol Chem 276 (12), 9189-9198 (2001)
   PUBMED   11106657
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CR747200.1, BC150562.1,
            BQ574249.1 and AA460254.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_001025295.2.
            
            Summary: 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].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: CR747200.1, AA463818.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2156099 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000382614.2/ ENSP00000372059.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-470               CR747200.1         3-472
            471-477             BC150562.1         464-470
            478-566             BQ574249.1         186-274             c
            567-736             AA460254.1         26-195              c
FEATURES             Location/Qualifiers
     source          1..736
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     gene            1..736
                     /gene="IFITM5"
                     /gene_synonym="BRIL; DSPA1; fragilis4; Hrmp1; OI5"
                     /note="interferon induced transmembrane protein 5"
                     /db_xref="GeneID:387733"
                     /db_xref="HGNC:HGNC:16644"
                     /db_xref="MIM:614757"
     exon            1..222
                     /gene="IFITM5"
                     /gene_synonym="BRIL; DSPA1; fragilis4; Hrmp1; OI5"
                     /inference="alignment:Splign:2.1.0"
     CDS             37..435
                     /gene="IFITM5"
                     /gene_synonym="BRIL; DSPA1; fragilis4; Hrmp1; OI5"
                     /note="bone-restricted interferon-induced transmembrane
                     protein-like protein; dispanin subfamily A member 1;
                     bone-restricted ifitm-like protein"
                     /codon_start=1
                     /product="interferon-induced transmembrane protein 5"
                     /protein_id="NP_001020466.1"
                     /db_xref="CCDS:CCDS31323.1"
                     /db_xref="GeneID:387733"
                     /db_xref="HGNC:HGNC:16644"
                     /db_xref="MIM:614757"
                     /translation="MDTAYPREDTRAPTPSKAGAHTALTLGAPHPPPRDHLIWSVFST
                     LYLNLCCLGFLALAYSIKARDQKVVGDLEAARRFGSKAKCYNILAAMWTLVPPLLLLG
                     LVVTGALHLARLAKDSAAFFSTKFDDADYD"
     exon            223..736
                     /gene="IFITM5"
                     /gene_synonym="BRIL; DSPA1; fragilis4; Hrmp1; OI5"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 accagtctga gtgtggaaga gacggcgctg gaacccatgg acacggcgta tccccgcgag
       61 gacacccggg cccccacgcc cagcaaggcc ggtgcccaca cagccctcac actgggggcc
      121 ccgcaccccc cgcctcgaga ccacttgatc tggtcggtgt tcagcaccct ctacctgaat
      181 ctgtgttgcc tcggcttcct ggcgctggcc tactccatca aggcccgaga tcagaaggtg
      241 gttggtgacc tggaagcggc ccggcgtttt ggctccaaag ccaagtgcta caacatcctg
      301 gccgcgatgt ggacgctggt gccgccactg ctgctcctgg ggctggtggt gactggtgcc
      361 ctgcacctgg cccggctggc caaggactct gccgccttct tcagcaccaa gtttgatgac
      421 gcggactatg actgacaggc tgggtcctga tctggggcac tagccccagg acactgaccc
      481 caggctgctg cccctggggc ccaatactga ctccccggag cctggccctc cttctgtggg
      541 gcctccatcc ctgccccatc ctgatcctgg ggccctccag ccccaacatg ggcacctaag
      601 gctgaaccag tcagaccccg gggtcttcac cctaacccga gagttcccgg gccctaactc
      661 tgcccccgat cctgcccctc cctcctcaca ctccaggccc ctcggttcca cgattaaaag
      721 tgcctggttc cagaaa
//
