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    IFITM5 interferon induced transmembrane protein 5 [ Homo sapiens (human) ]

    Gene ID: 387733, updated on 17-Sep-2024

    Summary

    Official Symbol
    IFITM5provided by HGNC
    Official Full Name
    interferon induced transmembrane protein 5provided by HGNC
    Primary source
    HGNC:HGNC:16644
    See related
    Ensembl:ENSG00000206013 MIM:614757; AllianceGenome:HGNC:16644
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OI5; BRIL; DSPA1; Hrmp1; fragilis4
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See IFITM5 in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (298200..299526, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (339421..340747, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (298200..299526, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:279707-280257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4258 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2991 Neighboring gene NLR family pyrin domain containing 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:283867-284636 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:287773-288302 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:288303-288832 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2993 Neighboring gene protein-glucosylgalactosylhydroxylysine glucosidase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4259 Neighboring gene mitochondrial ribosomal protein S24 pseudogene 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:305823-306334 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4260 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4261 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4262 Neighboring gene interferon induced transmembrane protein 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC190475, MGC190629

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in bone mineralization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in bone mineralization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in bone morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in bone morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of bone mineralization IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    interferon-induced transmembrane protein 5
    Names
    bone-restricted ifitm-like protein
    bone-restricted interferon-induced transmembrane protein-like protein
    dispanin subfamily A member 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_032892.1 RefSeqGene

      Range
      5001..6327
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001025295.3NP_001020466.1  interferon-induced transmembrane protein 5

      See identical proteins and their annotated locations for NP_001020466.1

      Status: REVIEWED

      Source sequence(s)
      AA460254, BC150562, BQ574249, CR747200
      Consensus CDS
      CCDS31323.1
      UniProtKB/Swiss-Prot
      A6NNB3
      Related
      ENSP00000372059.2, ENST00000382614.2
      Conserved Domains (1) summary
      pfam04505
      Location:3192
      CD225; Interferon-induced transmembrane protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      298200..299526 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      339421..340747 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)