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    SMIM30 small integral membrane protein 30 [ Homo sapiens (human) ]

    Gene ID: 401397, updated on 5-Mar-2024

    Summary

    Official Symbol
    SMIM30provided by HGNC
    Official Full Name
    small integral membrane protein 30provided by HGNC
    Primary source
    HGNC:HGNC:48953
    See related
    Ensembl:ENSG00000214194 AllianceGenome:HGNC:48953
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MAVI1; LINC00998
    Summary
    Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in heart (RPKM 54.5), thyroid (RPKM 25.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    7q31.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (113116718..113118554, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (114435806..114437643, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (112756773..112758609, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene heart tissue-associated transcript 17 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18546 Neighboring gene uncharacterized LOC107986837 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:112758380-112758974 Neighboring gene G protein-coupled receptor 85 Neighboring gene NANOG hESC enhancer GRCh37_chr7:112828377-112828990 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:112902892-112903479 Neighboring gene NANOG hESC enhancer GRCh37_chr7:113061672-113062194 Neighboring gene uncharacterized LOC124901813 Neighboring gene uncharacterized LOC124901814

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC104490, AC073346.2

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of type I interferon-mediated signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    small integral membrane protein 30
    Names
    long intergenic non-protein coding RNA 998
    microprotein in antiviral immunity 1
    putative transmembrane protein LINC00998

    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.

    mRNA and Protein(s)

    1. NM_001352687.2NP_001339616.1  small integral membrane protein 30 precursor

      Status: VALIDATED

      Source sequence(s)
      BC107860, BQ446959, BU630382, DN995392
      Consensus CDS
      CCDS87543.1
      UniProtKB/Swiss-Prot
      A4D0T7, Q32Q38
      Related
      ENSP00000490064.1, ENST00000441359.1
      Conserved Domains (1) summary
      pfam15873
      Location:154
      DUF4730; Domain of unknown function (DUF4730)
    2. NM_001352688.2NP_001339617.1  small integral membrane protein 30 precursor

      Status: VALIDATED

      Source sequence(s)
      BU630382, BX537645
      Consensus CDS
      CCDS87543.1
      UniProtKB/Swiss-Prot
      A4D0T7, Q32Q38
      Related
      ENSP00000490095.1, ENST00000397764.8
      Conserved Domains (1) summary
      pfam15873
      Location:154
      DUF4730; Domain of unknown function (DUF4730)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      113116718..113118554 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      114435806..114437643 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)