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

C1orf131 Gene

protein-coding   GIFtS: 42
GCID: GC01M231359

Chromosome 1 Open Reading Frame 131

  Search for C1orf131
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
Chromosome 1 Open Reading Frame 1311 2
Uncharacterized Protein C1orf1312

External Ids:    HGNC: 253321   Entrez Gene: 1280612   Ensembl: ENSG000001436337   UniProtKB: Q8NDD13   

Export aliases for C1orf131 gene to outside databases

Previous GC identifers: GC01M227667 GC01M229429 GC01M201842


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

GeneCards Summary for C1orf131 Gene: 
C1orf131 (chromosome 1 open reading frame 131) is a protein-coding gene.


(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_000001.10  NT_167186.1  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C1orf131 gene promoter:
         RFX1   ISGF-3   Pax-5   LCR-F1   Ik-3   AREB6   CREB   deltaCREB   Pax-4a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C1orf131

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C1orf131


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

Entrez Gene cytogenetic band: 1q42.2   Ensembl cytogenetic band:  1q42.2   HGNC cytogenetic band: 1q42.2

C1orf131 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C1orf131 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M231359:  view genomic region     (about GC identifiers)

Start:
231,359,509 bp from pter      End:
231,376,933 bp from pter
Size:
17,425 bases      Orientation:
minus 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: CA131_HUMAN, Q8NDD1 (See protein sequence)
Recommended Name: Uncharacterized protein C1orf131  
Size: 294 amino acids; 32766 Da
Caution: It is uncertain whether Met-1 or Met-11 is the initiator
Secondary accessions: Q5TBI0 Q5TBI1 Q6P6B4 Q7Z6H5 Q8N432 Q96NM6
Alternative splicing: 4 isoforms:  Q8NDD1-1   Q8NDD1-2   Q8NDD1-3   Q8NDD1-4   

Explore the universe of human proteins at neXtProt for C1orf131: NX_Q8NDD1

Explore proteomics data for C1orf131 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8NDD1

  • C1orf131 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C1orf131 Protein Expression
    REFSEQ proteins: NP_689592.2  
    ENSEMBL proteins: 
     ENSP00000355609   ENSP00000321341   ENSP00000355611   ENSP00000401677  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: Q8NDD1


    (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

    Phenotypes:
         1 GenomeRNAi human phenotype for C1orf131:
     Increased circadian period len 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for 2810004N23Rik):
     no phenotypic analysis 

    C1orf131 for phenotypes           About GeneDecksing

    Animal Models:
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    (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 C1orf131

    (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 C1orf131 (CA131)

    Search CenterWatch for drugs/clinical trials and news about C1orf131 / CA131

    (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,
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    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 C1orf131 gene: 
    NM_152379.2  

    Unigene Cluster for C1orf131:

    Chromosome 1 open reading frame 131
    Hs.743464  [show with all ESTs]
    Unigene Representative Sequence: AK055124
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000366649 ENST00000318906(uc001hun.1) ENST00000366651(uc001hul.3 uc001hum.3 uc010pwd.1)
    ENST00000451322 ENST00000462669 ENST00000486384 ENST00000495795 ENST00000471936(uc001huo.1)

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    Additional mRNA sequence: 

    AK055124.1 AK303359.1 BC036800.1 BC053609.1 BC062353.1 

    5 DOTS entries:

    DT.95368428  DT.111283  DT.216987  DT.121345214  DT.75122646 

    24/84 AceView cDNA sequences (see all 84):

    CA419038 BM820230 AI025831 AL541138 AY358235 CK300201 BQ716674 CB131843 
    AW182468 AI078414 BF515750 CR603219 AA570134 BU618325 AA316260 AA313183 
    BU615429 AI252218 BC062353 BC036800 BC053609 AA826823 BI089971 AA722816 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for C1orf131    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b
    SP1:              -                       -     -                     
    SP2:              -                       -     -                     
    SP3:                                                                  
    SP4:                                                                  
    SP5:                                                                  


    ECgene alternative splicing isoforms for C1orf131

    (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

    C1orf131 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTACAAAAT
    C1orf131 Expression
    About this image


    See C1orf131 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C1orf131

    SOURCE GeneReport for Unigene cluster: Hs.743464
        SABiosciences Custom PCR Arrays for C1orf131
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1orf131

    (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 C1orf131 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 2810004N23Rik1 , 5 RIKEN cDNA 2810004N23 gene1, 5 74.1(n)1
    68.35(a)1
      8 (72.81 cM)5
    665231  NM_025615.21  NP_079891.21 
     1248393555 
    chicken
    (Gallus gallus)
    Aves C3H1orf1311 chromosome 3 open reading frame, human C1orf131 57.54(n)
    48.13(a)
      421547  XM_419588.3  XP_419588.2 
    lizard
    (Anolis carolinensis)
    Reptilia C1orf1316
    chromosome 1 open reading frame 131
    41(a)
    1 ↔ 1
    1(223130280-223144100)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1942241 zgc:194224 55.34(n)
    46.89(a)
      799070  NM_001130794.1  NP_001124266.1 


    ENSEMBL Gene Tree for C1orf131 (if available)
    TreeFam Gene Tree for C1orf131 (if available)

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

    (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

    10/324 SNPs in C1orf131 are shown (see all 324)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0319064
    ----see VAR_0319062 L V mis40--------
    rs1830926111,2
    C--231359082(+) CAACAC/TGGTGA 1 -- int10--------
    rs1872688771,2
    --231359125(+) CTGGGC/TGTGGC 1 -- int10--------
    rs75566471,2
    C--231359138(+) cgtgcA/Gcctgt 1 -- int10--------
    rs1909176531,2
    --231359152(+) CCCAGC/TTACTC 1 -- int10--------
    rs1420955481,2
    --231359157(+) CTACTC/TGGGAG 1 -- int10--------
    rs1463672161,2
    --231359214(+) GAGCTA/GAGATC 1 -- int10--------
    rs1397409891,2
    --231359259(+) GACTCC/GGTCTC 1 -- int10--------
    rs1824808401,2
    --231359260(+) ACTCCA/GTCTCA 1 -- int10--------
    rs168540041,2
    C,F,H--231359419(+) AAGGTG/AATGAC 1 -- int113Minor allele frequency- A:0.03NA NS EA WA 1354

    HapMap Linkage Disequilibrium report for C1orf131 (231359509 - 231376933 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for C1orf131:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv873292CNV Gain21882294

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    (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

    C1orf131 for disorders           About MalaCards

    C1orf131 for disorders           About GeneDecksing

    Genetic Association Database (GAD): C1orf131

    Export disorders for C1orf131 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 C1orf131 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with C1orf131)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    2. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 3 Clark H.F.... Gray A.M. (2003)
    3. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    4. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    5. Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861)2 Choudhary C.... Mann M. (2009)
    6. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    7. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (2007)
    8. Genome-wide association with diabetes-related traits in the Framingham Heart Study. (PubMed id 17903298)4 Meigs J.B....Dupuis J. (2007)
    9. ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. (PubMed id 17525332)2 Matsuoka S.... Elledge S.J. (2007)
    10. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)

    (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: 128061 HGNC: 25332 AceView: DKFZp547B1713 Ensembl:ENSG00000143633 euGenes: HUgn128061
    ECgene: C1orf131 H-InvDB: C1orf131

    (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 C1orf131 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 C1orf131 gene:
    Search GeneIP for patents involving C1orf131

    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
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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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