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SMIM7 small integral membrane protein 7 [ Homo sapiens (human) ]

Gene ID: 79086, updated on 27-Nov-2024

Summary

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Official Symbol
SMIM7provided by HGNC
Official Full Name
small integral membrane protein 7provided by HGNC
Primary source
HGNC:HGNC:28419
See related
Ensembl:ENSG00000214046 AllianceGenome:HGNC:28419
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
C19orf42
Summary
Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in thyroid (RPKM 16.9), prostate (RPKM 16.3) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See SMIM7 in Genome Data Viewer
Location:
19p13.11
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (16630751..16660144, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (16765542..16795838, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (16756959..16770955, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372295 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10308 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16692801-16693372 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16693373-16693944 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14239 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16695630-16696166 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16696804-16697686 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14242 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14243 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14244 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14245 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16702872-16703374 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10309 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14246 Neighboring gene mediator complex subunit 26 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:16716746-16717543 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10310 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:16739143-16740074 Neighboring gene uncharacterized LOC105372296 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14247 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16748865-16749364 Neighboring gene uncharacterized LOC124904647 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10313 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10314 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16772303-16773111 Neighboring gene transmembrane protein 38A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:16790368-16790868 Neighboring gene NACHT and WD repeat domain containing 1 Neighboring gene uncharacterized LOC124904648 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:16928291-16928487

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. Systematic protein-protein interaction mapping for clinically relevant human GPCRs. Sokolina K, et al. Mol Syst Biol, 2017 Mar 15. PMID 28298427, Free PMC Article
  2. SERBP1 Promotes Stress Granule Clearance by Regulating 26S Proteasome Activity and G3BP1 Ubiquitination and Protects Male Germ Cells from Thermostimuli Damage. Wang F, et al. Research (Wash D C), 2023. PMID 37223481, Free PMC Article
  3. Ubiquitin-mediated proteolysis of HuR by heat shock. Abdelmohsen K, et al. EMBO J, 2009 May 6. PMID 19322201, Free PMC Article
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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

  • MGC2747

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
small integral membrane protein 7
Names
UPF0608 protein C19orf42

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_001300925.2 → NP_001287854.1  small integral membrane protein 7 isoform 1 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AL702263, BC000817, DB047166
    Consensus CDS
    CCDS74307.1
    UniProtKB/TrEMBL
    B7WNH4
    Related
    ENSP00000351569.5, ENST00000358726.6

  2. NM_024104.4 → NP_077009.2  small integral membrane protein 7 isoform 2 precursor

    See identical proteins and their annotated locations for NP_077009.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate 3' terminal exon, resulting in a novel 3' coding region and 3' UTR. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AL702263, BC001680
    Consensus CDS
    CCDS12348.2
    UniProtKB/Swiss-Prot
    A8MX44, Q9BQ49
    UniProtKB/TrEMBL
    M0R2G5
    Related
    ENSP00000417147.1, ENST00000487416.7

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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    16630751..16660144 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047439418.1 → XP_047295374.1  small integral membrane protein 7 isoform X2

    UniProtKB/Swiss-Prot
    A8MX44, Q9BQ49
    Related
    ENSP00000469440.1, ENST00000597781.5

  2. XM_047439416.1 → XP_047295372.1  small integral membrane protein 7 isoform X2

    UniProtKB/Swiss-Prot
    A8MX44, Q9BQ49
    Related
    ENSP00000433833.1, ENST00000481671.6

  3. XM_047439417.1 → XP_047295373.1  small integral membrane protein 7 isoform X2

    UniProtKB/Swiss-Prot
    A8MX44, Q9BQ49
    Related
    ENSP00000469918.1, ENST00000599310.5

  4. XM_047439415.1 → XP_047295371.1  small integral membrane protein 7 isoform X2

    UniProtKB/Swiss-Prot
    A8MX44, Q9BQ49
    Related
    ENSP00000471355.1, ENST00000593404.5

  5. XM_047439414.1 → XP_047295370.1  small integral membrane protein 7 isoform X1

    UniProtKB/TrEMBL
    B7WNH4
    Related
    ENSP00000486146.1, ENST00000627144.2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    16765542..16795838 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054322114.1 → XP_054178089.1  small integral membrane protein 7 isoform X2

    UniProtKB/Swiss-Prot
    A8MX44, Q9BQ49

RNA

  1. XR_008485198.1 RNA Sequence

  2. XR_008485196.1 RNA Sequence

  3. XR_008485197.1 RNA Sequence

  4. XR_008485195.1 RNA Sequence

  5. XR_008485194.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BQ49.2 GenPept UniProtKB/Swiss-Prot:Q9BQ49

Gene LinkOut

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