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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CMSS1 Gene

protein-coding   GIFtS: 40
GCID: GC03P099539

Cms1 Ribosomal Small Subunit Homolog (Yeast)

(Previous name: chromosome 3 open reading frame 26)
(Previous symbol: C3orf26)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Cms1 Ribosomal Small Subunit Homolog (Yeast)1 2
C3orf261 2 3
Chromosome 3 Open Reading Frame 261
Protein CMSS12
Cms1 Ribosomal Small Subunit Homolog3

External Ids:    HGNC: 286661   Entrez Gene: 843192   Ensembl: ENSG000001842207   UniProtKB: Q9BQ753   

Export aliases for CMSS1 gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for CMSS1 Gene: 
CMSS1 (cms1 ribosomal small subunit homolog (yeast)) is a protein-coding gene. Diseases associated with CMSS1 include cleft palate, and cleft lip. GO annotations related to this gene include ATP-dependent helicase activity and nucleic acid binding.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_005612.16  NC_018914.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for CMSS1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCMSS1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CMSS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CMSS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q12.1   Ensembl cytogenetic band:  3q12.1   HGNC cytogenetic band: 3q12.1

CMSS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CMSS1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P099539:  view genomic region     (about GC identifiers)

Start:
99,536,678 bp from pter      End:
99,897,476 bp from pter
Size:
360,799 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CMS1_HUMAN, Q9BQ75 (See protein sequence)
Recommended Name: Protein CMSS1  
Size: 279 amino acids; 31884 Da
Secondary accessions: A8K5S7 B4DUM1 E9PHS3
Alternative splicing: 2 isoforms:  Q9BQ75-1   Q9BQ75-2   

Explore the universe of human proteins at neXtProt for CMSS1: NX_Q9BQ75

Explore proteomics data for CMSS1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BQ75

  • CMSS1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CMSS1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001161396.1  NP_115735.2  

    ENSEMBL proteins: 
     ENSP00000410396   ENSP00000418855   ENSP00000418609   ENSP00000419161   ENSP00000417293  
     ENSP00000418762  

    Human Recombinant Protein Products for CMSS1: 
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    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR011545 DNA/RNA_helicase_DEAD/DEAH_N
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry Q9BQ75

    ProtoNet protein and cluster: Q9BQ75

    UniProtKB/Swiss-Prot: CMS1_HUMAN, Q9BQ75
    Similarity: Belongs to the CMS1 family


    CMSS1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0005524ATP binding ----
    GO:0008026ATP-dependent helicase activity ----
         
    CMSS1 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CMSS1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CMSS1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CMSS1 
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CMSS1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CMSS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/89 Interacting proteins for CMSS1 (Q9BQ752, 3 ENSP000004103964) via UniProtKB, MINT, STRING, and/or I2D (see all 89)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MED19A0JLT23, ENSP000003373404STRING: ENSP00000337340 I2D: score=1 
    SART3Q150203, ENSP000002282844I2D: score=2 STRING: ENSP00000228284
    AGO2Q9UKV82, ENSP000002205924MINT-6489355 STRING: ENSP00000220592
    MED29Q9NX703, ENSP000003143434I2D: score=1 STRING: ENSP00000314343
    GSTK1Q9Y2Q33I2D: score=1 
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CMSS1 (CMS1)

    Search CenterWatch for drugs/clinical trials and news about CMSS1 / CMS1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CMSS1 gene (2 alternative transcripts): 
    NM_001167924.1  NM_032359.3  

    Unigene Cluster for CMSS1:

    Cms1 ribosomal small subunit homolog (yeast)
    Hs.581320  [show with all ESTs]
    Unigene Representative Sequence: BI765138
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000421999(uc003dtl.3) ENST00000463526 ENST00000491299 ENST00000496116(uc003dtk.2)
    ENST00000489081(uc021xbt.1) ENST00000478909 ENST00000497345 ENST00000479555
    ENST00000494412
    miRNA
    Products:
         
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    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate CMSS1
    SwitchGear 3'UTR luciferase reporter plasmidCMSS1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CMSS1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CMSS1
    Clone
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    OriGene clones in human, mouse for CMSS1 (see all 12)
    OriGene ORF clones in mouse, rat for CMSS1
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    GenScript Custom all cDNA clones Services for CMSS1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CMSS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CMSS1
    Sirion Biotech Customized lentivirus for stable overexpression of CMSS1 
                         Customized lentivirus expression plasmids for stable overexpression of CMSS1 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CMSS1
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CMSS1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CMSS1

    Additional mRNA sequence: 

    AK124387.1 AK291392.1 AK300704.1 AK312483.1 BC006475.1 BC006512.2 

    8 DOTS entries:

    DT.75112488  DT.92446568  DT.92446567  DT.95113439  DT.100716529  DT.92446565  DT.95113437  DT.91891762 

    24/217 AceView cDNA sequences (see all 217):

    BU624513 AI631566 AI784494 C02082 AA406201 AA026954 BM990144 BM682131 
    BU193252 AA236359 H73571 BE858517 AA702366 CB242060 AW205313 BC006512 
    CB528551 AI188948 BM845160 AA766360 AI079744 BE889767 AW139396 BG030196 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CMSS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CMSS1 Expression
    About this image


    See CMSS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CMSS1

    SOURCE GeneReport for Unigene cluster: Hs.581320
        SABiosciences Custom PCR Arrays for CMSS1
    Primer
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    OriGene qPCR primer pairs and template standards for CMSS1
    OriGene qSTAR qPCR primer pairs in human, mouse for CMSS1
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    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CMSS1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CMSS1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CMSS1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CMSS1 gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cmss11 , 5 RIKEN cDNA 2610528E23 gene5
    cms small ribosomal subunit 11
    86.06(n)1
    84(a)1
      16 (34.22 cM)5
    664971  NM_025599.31  NP_079875.21 
     573021995 
    chicken
    (Gallus gallus)
    Aves CMSS11 cms1 ribosomal small subunit homolog (yeast) 71.94(n)
    67.52(a)
      418381  XM_416600.3  XP_416600.3 
    lizard
    (Anolis carolinensis)
    Reptilia CMSS16
    cms1 ribosomal small subunit homolog (yeast)
    60(a)
    1 ↔ 1
    3(174415754-174546722)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.50912 Xenopus laevis transcribed sequence with weak similarity more 75.77(n)    CD361913.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1018141 zgc:101814 57.23(n)
    48.03(a)
      450027  NM_001006048.1  NP_001006048.1 


    ENSEMBL Gene Tree for CMSS1 (if available)
    TreeFam Gene Tree for CMSS1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CMSS1 gene

    CMSS1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CMSS1
    PGOHUM00000233479


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1457 SNPs in CMSS1 are shown (see all 1457)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2004576021,2
    Cuntested199886632(+) AATCGG/ATCCTG 4 /I /V mis11Minor allele frequency- A:0.00EU 1323
    rs1391399451,2
    --99534735(+) CGTTGC/TTGTTT 1 -- us2k10--------
    rs790628571,2
    C--99535076(+) GACTTC/TTTTTT 1 -- us2k11Minor allele frequency- T:0.50NA 2
    rs1475408901,2
    C--99535076(+) GACTT-/CTTTTT 1 -- us2k10--------
    rs716255391,2
    C--99535077(+) TTTTTT/-GAGAC 1 -- us2k11Minor allele frequency- -:0.50NA 2
    rs1892545541,2
    --99535133(+) CAGGCG/TGGAGT 1 -- us2k10--------
    rs1920067251,2
    --99535217(+) AGTAGC/TTGGAA 1 -- us2k10--------
    rs1844626241,2
    --99535294(+) TGGCCA/CGGCTG 1 -- us2k10--------
    rs1430459911,2
    C--99535377(+) ACCGCA/GCCCGG 1 -- us2k10--------
    rs1470300681,2
    C--99535385(+) CGGCCC/TATACT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CMSS1 (99536678 - 99786678 bp, first 250kb of CMSS1)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CMSS1: --
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CMSS1
    DNA2.0 Custom Variant and Variant Library Synthesis for CMSS1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for CMSS1:    About MalaCards
    cleft palate    cleft lip


    CMSS1 for disorders           About GeneDecksing


    Export disorders for CMSS1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CMSS1 gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with CMSS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    4. Genome-wide meta-analyses of nonsyndromic cleft lip wi th or without cleft palate identify six new risk loci. (PubMed id 22863734)1 Ludwig K.U....Nothen M.M. (2012)
    5. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)
    6. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    10. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 84319 HGNC: 28666 AceView: MGC4308 Ensembl:ENSG00000184220 euGenes: HUgn84319
    ECgene: CMSS1 H-InvDB: CMSS1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CMSS1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CMSS1 gene:
    Search GeneIP for patents involving CMSS1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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