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

C1orf50 Gene

protein-coding   GIFtS: 45
GCID: GC01P043232

Chromosome 1 Open Reading Frame 50

  Search for C1orf50
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 501 2
Uncharacterized Protein C1orf502

External Ids:    HGNC: 287951   Entrez Gene: 790782   Ensembl: ENSG000001640087   UniProtKB: Q9BV193   

Export aliases for C1orf50 gene to outside databases

Previous GC identifers: GC01P042903 GC01P043005 GC01P041352


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

GeneCards Summary for C1orf50 Gene: 
C1orf50 (chromosome 1 open reading frame 50) 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  NC_018912.2  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C1orf50 gene promoter:
         AML1a   p300   Olf-1   Max   AREB6   PPAR-alpha   POU2F1   COMP1   POU2F1a   c-Myc   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C1orf50

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C1orf50


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

Entrez Gene cytogenetic band: 1p34.2   Ensembl cytogenetic band:  1p34.2   HGNC cytogenetic band: 1p34.2

C1orf50 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C1orf50 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P043232:  view genomic region     (about GC identifiers)

Start:
43,232,916 bp from pter      End:
43,263,968 bp from pter
Size:
31,053 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: CA050_HUMAN, Q9BV19 (See protein sequence)
Recommended Name: Uncharacterized protein C1orf50  
Size: 199 amino acids; 21877 Da

Explore the universe of human proteins at neXtProt for C1orf50: NX_Q9BV19

Explore proteomics data for C1orf50 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BV19

  • C1orf50 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C1orf50 Protein Expression
    REFSEQ proteins: NP_077002.2  
    ENSEMBL proteins: 
     ENSP00000361603   ENSP00000473339   ENSP00000473874   ENSP00000398292   ENSP00000415739  
     ENSP00000473838   ENSP00000438814  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR019534 DUF2452

    Graphical View of Domain Structure for InterPro Entry Q9BV19

    ProtoNet protein and cluster: Q9BV19


    C1orf50 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): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
         
    C1orf50 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for C1orf50:
     Increased gamma-H2AX phosphory 

    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 C1orf50

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for C1orf50 (Q9BV193 ENSP000003616034) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AHCYP235263, ENSP000002174264I2D: score=3 STRING: ENSP00000217426
    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 C1orf50 (CA050)

    Search CenterWatch for drugs/clinical trials and news about C1orf50 / CA050

    (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 C1orf50 gene: 
    NM_024097.3  

    Unigene Cluster for C1orf50:

    Chromosome 1 open reading frame 50
    Hs.148845  [show with all ESTs]
    Unigene Representative Sequence: BQ064229
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372525(uc001cia.4) ENST00000464081 ENST00000603943 ENST00000468913
    ENST00000494155 ENST00000421630(uc021omg.1) ENST00000438946 ENST00000605272
    ENST00000536543
    miRNA
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    hsa-miR-875-3p hsa-miR-377
    SwitchGear 3'UTR luciferase reporter plasmidC1orf50 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: C1orf50 (NM_024097)
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C1orf50

    Additional mRNA sequence: 

    BC001508.2 BC001711.1 NR_040733.1 

    9 DOTS entries:

    DT.312212  DT.97841124  DT.100023893  DT.102833199  DT.100809188  DT.75102368  DT.95373301  DT.92420427 
    DT.95373303 

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

    CD369015 AA741374 AI569708 BE296338 BE513409 BQ071711 BM666729 AA976347 
    BQ642209 CK822498 AI371065 BM702424 AI565626 BU553325 BU616601 AW843842 
    BM129836 CD676027 NM_024097 BM505045 BU617660 BE464824 BX107267 AW732698 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for C1orf50 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c · 5d
    SP1:                                            -                                       
    SP2:                                -           -                                       
    SP3:                          -     -           -                                       
    SP4:                                                                                    
    SP5:                                            -                                       


    ECgene alternative splicing isoforms for C1orf50

    (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

    C1orf50 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGGTGACTC
    C1orf50 Expression
    About this image


    See C1orf50 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C1orf50

    SOURCE GeneReport for Unigene cluster: Hs.148845
        SABiosciences Custom PCR Arrays for C1orf50
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1orf50

    (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 animals.

    Orthologs for C1orf50 gene from 6/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia AU0222521 , 5 expressed sequence AU0222521, 5 85.09(n)1
    84.42(a)1
      4 (55.34 cM)5
    2306961  NM_001012400.21  NP_001012400.11 
     1192035705 
    chicken
    (Gallus gallus)
    Aves C21H1orf501 chromosome 21 open reading frame, human C1orf50 72.19(n)
    75.15(a)
      419506  XM_417656.3  XP_417656.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.110192 Transcribed sequence with moderate similarity to protein more 75.18(n)    142003777 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1122551 zgc:112255 69.02(n)
    72.35(a)
      553695  NM_001020669.1  NP_001018505.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG318001 CG31800 53.59(n)
    44.62(a)
      318947  NM_165272.1  NP_724152.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C08B11.91 Protein C08B11.9 51.52(n)
    41.26(a)
      3564855  NM_001026763.1  NP_001021934.1 


    ENSEMBL Gene Tree for C1orf50 (if available)
    TreeFam Gene Tree for C1orf50 (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

    10/147 SNPs in C1orf50 are shown (see all 147)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1124647731,2
    C,F--43234855(+) CAGAGG/ATTGCA 2 -- int11Minor allele frequency- A:0.50WA 2
    rs1886592091,2
    --43234867(+) TGAGCC/TGAGAT 2 -- int10--------
    rs1809688741,2
    --43234987(+) TAAGGC/TGGGAG 2 -- int10--------
    rs46606661,2
    C,F--43235022(+) gaccaG/Acctgg 2 -- int18Minor allele frequency- A:0.40NA WA CSA 15
    rs46602321,2
    C,F,A--43235030(+) tgggcA/Gacatg 2 -- int18Minor allele frequency- G:0.40NA WA CSA 15
    rs1852495621,2
    --43235058(+) TAAAAA/TACAAA 2 -- int10--------
    rs1923581371,2
    --43235072(+) TTAGCC/TGGGCA 2 -- int10--------
    rs1837184771,2
    --43235143(+) ACCTGA/GGAGGC 2 -- int10--------
    rs1396602701,2
    C--43235174(+) ATCACA/GCCACT 2 -- int10--------
    rs1869710391,2
    --43235211(+) GTCTAA/GAAAGA 2 -- int10--------

    HapMap Linkage Disequilibrium report for C1orf50 (43232916 - 43263968 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for C1orf50:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv829682CNV Loss17160897

    SABiosciences Cancer Mutation PCR Assays
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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
      --

    (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 C1orf50 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C1orf50)
        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. 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)
    3. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
    6. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (2004)
    7. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)

    (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: 79078 HGNC: 28795 AceView: MGC955 Ensembl:ENSG00000164008 euGenes: HUgn79078
    ECgene: C1orf50 H-InvDB: C1orf50

    (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 C1orf50 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 C1orf50 gene:
    Search GeneIP for patents involving C1orf50

    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: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (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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