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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

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

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