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

Gene ID: 401397, updated on 2-Nov-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, Nov 2024]
Expression
Ubiquitous expression in heart (RPKM 54.5), thyroid (RPKM 25.8) and 25 other tissues See more
Orthologs
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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 Variation Viewer (GRCh37.p13)

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