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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
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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 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

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

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