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

Gene ID: 84319, updated on 23-Nov-2021

Summary

Official Symbol
CMSS1provided by HGNC
Official Full Name
cms1 ribosomal small subunit homologprovided by HGNC
Primary source
HGNC:HGNC:28666
See related
Ensembl:ENSG00000184220
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
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

See CMSS1 in Genome Data Viewer
Location:
3q12.1
Exon count:
11
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (99817862..100181732)
105.20201022 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 LOC105374006 Neighboring gene collagen type VIII alpha 1 chain Neighboring gene Sharpr-MPRA regulatory region 15587 Neighboring gene Sharpr-MPRA regulatory region 1863 Neighboring gene uncharacterized LOC101929357 Neighboring gene Sharpr-MPRA regulatory region 14327 Neighboring gene filamin A interacting protein 1 like Neighboring gene transmembrane protein 258 pseudogene Neighboring gene uncharacterized LOC112268455 Neighboring gene microRNA 3921 Neighboring gene uncharacterized LOC105374010 Neighboring gene uncharacterized LOC105374009 Neighboring gene Sharpr-MPRA regulatory region 11159 Neighboring gene transmembrane protein 30C, pseudogene Neighboring gene dual specificity phosphatase 12 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.
GeneReviews: Not available
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: COL8A1

Homology

Clone Names

  • MGC4308

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_001167924.2NP_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/Swiss-Prot
    Q9BQ75
    Related
    ENSP00000419161.1, ENST00000489081.5
    Conserved Domains (1) summary
    cl21455
    Location:14243
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  2. NM_032359.4NP_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
    Q9BQ75
    Related
    ENSP00000410396.2, ENST00000421999.8
    Conserved Domains (1) summary
    cl28899
    Location:61261
    DEAD-like_helicase_N; N-terminal helicase domain of the DEAD-box helicase superfamily

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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