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    CMSS1 cms1 ribosomal small subunit homolog [ Homo sapiens (human) ]

    Gene ID: 84319, updated on 3-Nov-2024

    Summary

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    Official Symbol
    CMSS1provided by HGNC
    Official Full Name
    cms1 ribosomal small subunit homologprovided by HGNC
    Primary source
    HGNC:HGNC:28666
    See related
    Ensembl:ENSG00000184220 AllianceGenome:HGNC:28666
    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
    C3orf26
    Summary
    Enables RNA binding activity. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 15.9), adrenal (RPKM 15.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CMSS1 in Genome Data Viewer
    Location:
    3q12.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (99817862..100181732)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (102522903..102887068)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (99536706..99900576)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374007 Neighboring gene uncharacterized LOC105374005 Neighboring gene uncharacterized LOC124909401 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:99377337-99378536 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20147 Neighboring gene collagen type VIII alpha 1 chain Neighboring gene Sharpr-MPRA regulatory region 15587 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20148 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14564 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14565 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:99513015-99514014 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:99536557-99537431 Neighboring gene uncharacterized LOC105374010 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:99562339-99562840 Neighboring gene Sharpr-MPRA regulatory region 1863 Neighboring gene uncharacterized LOC101929357 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14566 Neighboring gene Sharpr-MPRA regulatory region 14327 Neighboring gene filamin A interacting protein 1 like Neighboring gene MPRA-validated peak4749 silencer Neighboring gene TMEM258 pseudogene 2 Neighboring gene microRNA 3921 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20150 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14567 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14568 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:99792322-99792856 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:99792857-99793391 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:99809017-99809517 Neighboring gene uncharacterized LOC105374009 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20151 Neighboring gene Sharpr-MPRA regulatory region 11159 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14569 Neighboring gene transmembrane protein 30C, pseudogene Neighboring gene dual specificity phosphatase 12 pseudogene 1

    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 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. Expression profiles of SV40-immortalization-associated genes upregulated in various human cancers. Jung HM, et al. J Cell Biochem, 2009 Mar 1. PMID 19160420
    2. Cms1 coordinates stepwise local 90S pre-ribosome assembly with timely snR83 release. Lau B, et al. Cell Rep, 2022 Nov 22. PMID 36417864, Free PMC Article
    3. Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. Ludwig KU, et al. Nat Genet, 2012 Sep. PMID 22863734, Free PMC Article
    4. Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. Cheng CY, et al. Am J Hum Genet, 2013 Aug 8. PMID 24144296, Free PMC Article
    5. Targeting SKA3 suppresses the proliferation and chemoresistance of laryngeal squamous cell carcinoma via impairing PLK1-AKT axis-mediated glycolysis. Gao W, et al. Cell Death Dis, 2020 Oct 26. PMID 33106477, Free PMC Article

    See all (66) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.
    EBI GWAS Catalog
    Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: COL8A1

    Homology

    Clone Names

    • MGC4308

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein CMSS1

    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_001167924.2 → NP_001161396.1  protein CMSS1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC129803, AK300704
      Consensus CDS
      CCDS54618.1
      UniProtKB/TrEMBL
      C9J384
      Related
      ENSP00000419161.1, ENST00000489081.5
      Conserved Domains (1) summary
      cl21455
      Location:14 → 243
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    2. NM_032359.4 → NP_115735.2  protein CMSS1 isoform 1

      See identical proteins and their annotated locations for NP_115735.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC069222, AC129803, AK312483, BC006512
      Consensus CDS
      CCDS2935.1
      UniProtKB/Swiss-Prot
      A8K5S7, B4DUM1, E9PHS3, Q9BQ75
      Related
      ENSP00000410396.2, ENST00000421999.8
      Conserved Domains (1) summary
      cl28899
      Location:61 → 261
      DEAD-like_helicase_N; N-terminal helicase domain of the DEAD-box helicase superfamily

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      99817862..100181732
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      102522903..102887068
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BQ75.2 GenPept UniProtKB/Swiss-Prot:Q9BQ75

    Gene LinkOut

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

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