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

    Gene ID: 401397, updated on 10-Dec-2024

    Summary

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    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
    Involved in negative regulation of type I interferon-mediated signaling pathway. Located in endoplasmic reticulum membrane and mitochondrial membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in heart (RPKM 54.5), thyroid (RPKM 25.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SMIM30 in Genome Data Viewer
    Location:
    7q31.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (113116718..113118554, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (114435806..114437643, complement)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

    Bibliography

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    Related articles in PubMed

    1. LINC00998-encoded micropeptide SMIM30 promotes the G1/S transition of cell cycle by regulating cytosolic calcium level. Yang JE, et al. Mol Oncol, 2023 May. PMID 36495128, Free PMC Article
    2. Peptide SMIM30 promotes HCC development by inducing SRC/YES1 membrane anchoring and MAPK pathway activation. Pang Y, et al. J Hepatol, 2020 Nov. PMID 32461121
    3. MAVI1, an endoplasmic reticulum-localized microprotein, suppresses antiviral innate immune response by targeting MAVS on mitochondrion. Shi TT, et al. Sci Adv, 2023 Sep. PMID 37656786, Free PMC Article
    4. Pervasive functional translation of noncanonical human open reading frames. Chen J, et al. Science, 2020 Mar 6. PMID 32139545, Free PMC Article
    5. Intergenic variants may predispose to major depression disorder through regulation of long non-coding RNA expression. Ye N, et al. Gene, 2017 Feb 15. PMID 27940106

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LINC00998-encoded micropeptide SMIM30 promotes the G1/S transition of cell cycle by regulating cytosolic calcium level.
      Title: LINC00998-encoded micropeptide SMIM30 promotes the G1/S transition of cell cycle by regulating cytosolic calcium level.
    2. Peptide SMIM30 promotes HCC development by inducing SRC/YES1 membrane anchoring and MAPK pathway activation.
      Title: Peptide SMIM30 promotes HCC development by inducing SRC/YES1 membrane anchoring and MAPK pathway activation.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 IBA
    Inferred from Biological aspect of Ancestor
    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
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in mitochondrial membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    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)

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    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_001352687.2 → NP_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:1 → 54
      DUF4730; Domain of unknown function (DUF4730)

    2. NM_001352688.2 → NP_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:1 → 54
      DUF4730; Domain of unknown function (DUF4730)

    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_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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A4D0T7.2 GenPept UniProtKB/Swiss-Prot:A4D0T7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Molecular Biology Databases
    Research Materials