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    SMIM27 small integral membrane protein 27 [ Homo sapiens (human) ]

    Gene ID: 100129250, updated on 10-Dec-2024

    Summary

    Official Symbol
    SMIM27provided by HGNC
    Official Full Name
    small integral membrane protein 27provided by HGNC
    Primary source
    HGNC:HGNC:31420
    See related
    Ensembl:ENSG00000235453 AllianceGenome:HGNC:31420
    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
    C9orf133; TOPORS-AS1
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 2.9), spleen (RPKM 1.6) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SMIM27 in Genome Data Viewer
    Location:
    9p21.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (32551144..32566860)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (32567306..32583045)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (32551142..32566858)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101060445 Neighboring gene uncharacterized LOC124902138 Neighboring gene RNA sensor RIG-I Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:32508078-32508796 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:32508797-32509513 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28262 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19826 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19827 Neighboring gene H3K27ac hESC enhancers GRCh37_chr9:32551644-32552358 and GRCh37_chr9:32552359-32553072 Neighboring gene TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase Neighboring gene NADH:ubiquinone oxidoreductase subunit B6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28265 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28266 Neighboring gene DNA fragmentation factor subunit beta pseudogene 1 Neighboring gene uncharacterized LOC105376015 Neighboring gene TATA-box binding protein associated factor 1 like

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (0 hits/1 screen)

    EBI GWAS Catalog

    Description
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    EBI GWAS Catalog

    General gene information

    Clone Names

    • FLJ25547

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in membrane  

    General protein information

    Preferred Names
    small integral membrane protein 27
    Names
    TOPORS antisense RNA 1 (non-protein coding)

    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_001349118.1NP_001336047.1  small integral membrane protein 27

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the functional protein. Variants 1, 2, and 5 encode the same protein.
      Source sequence(s)
      AL353671, CB048380
      Consensus CDS
      CCDS87647.1
      UniProtKB/Swiss-Prot
      A0A1B0GUW7
      UniProtKB/TrEMBL
      A0A1B0GW09
      Related
      ENSP00000490275.1, ENST00000453396.5
    2. NM_001349119.2NP_001336048.1  small integral membrane protein 27

      Status: VALIDATED

      Description
      Transcript Variant: This variant differs in the 5' UTR compared to variant 1. Variants 1, 2, and 5 encode the same protein.
      Source sequence(s)
      AL353671, CB048380, HY032383
      Consensus CDS
      CCDS87647.1
      UniProtKB/Swiss-Prot
      A0A1B0GUW7
      UniProtKB/TrEMBL
      A0A1B0GW09
      Related
      ENSP00000490727.2, ENST00000450093.3
    3. NM_001387564.1NP_001374493.1  small integral membrane protein 27

      Status: VALIDATED

      Source sequence(s)
      AL353671
      Consensus CDS
      CCDS87647.1
      UniProtKB/Swiss-Prot
      A0A1B0GUW7
      UniProtKB/TrEMBL
      A0A1B0GW09
      Related
      ENSP00000508648.1, ENST00000692500.1

    RNA

    1. NR_146061.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks a 5' exon and uses an alternate 3' exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BI916035, DA702677, HY032383
      Related
      ENST00000425533.1
    2. NR_146063.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks a 5' exon and uses an alternate 3' exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BI916035, DA753662, HY032383

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      32551144..32566860
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      32567306..32583045
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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