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C1orf50 Gene

protein-coding   GIFtS: 47
GCID: GC01P043232

Chromosome 1 Open Reading Frame 50

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   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 Chromatin IP Primers for C1orf50

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C1orf50 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    C1orf50 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for C1orf50

     
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    antibodies-online proteins for C1orf50 (2 products) 

     
    antibodies-online peptides for C1orf50

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    antibodies-online antibodies for C1orf50 (25 products) 

    C1orf50 Assay Products:

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    Cloud-Clone Corp. ELISAs for C1orf50
    Cloud-Clone Corp. CLIAs for C1orf50
    Search eBioscience for ELISAs for C1orf50 
    antibodies-online kits for C1orf50 (2 products) 


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

    Graphical View of Domain Structure for InterPro Entry Q9BV19

    ProtoNet protein and cluster: Q9BV19


    Find genes that share domains with C1orf50           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
         
    Find genes that share ontologies with C1orf50           About GenesLikeMe


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

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C1orf50
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for C1orf50
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for C1orf50

    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate C1orf50:
    hsa-miR-875-3p hsa-miR-377
    SwitchGear 3'UTR luciferase reporter plasmidC1orf50 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for C1orf50
    Predesigned siRNA for gene silencing in human, mouse, rat C1orf50

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for C1orf50

    Clone
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    OriGene clones in human, mouse for C1orf50 (see all 6)
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    GenScript: all cDNA clones in your preferred vector: C1orf50 (NM_024097)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C1orf50
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C1orf50

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1orf50


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    cytoskeleton1
    mitochondrion1

    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for C1orf50
    Interactions:

        Search GeneGlobe Interaction Network for C1orf50

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for C1orf50 (Q9BV193 ENSP000003616034) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AHCYP235263, ENSP000002174264I2D: score=3 STRING: ENSP00000217426
    AHCYL1ENSP000003588144STRING: ENSP00000358814
    AHCYL2ENSP000003159314STRING: ENSP00000315931
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    Products:
         
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    2 qRT-PCR Assays for microRNAs that regulate C1orf50:
    hsa-miR-875-3p hsa-miR-377
    SwitchGear 3'UTR luciferase reporter plasmidC1orf50 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for C1orf50
    Predesigned siRNA for gene silencing in human, mouse, rat C1orf50
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    GenScript: all cDNA clones in your preferred vector: C1orf50 (NM_024097)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C1orf50
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for C1orf50
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat C1orf50
      QuantiTect SYBR Green Assays in human, mouse, rat C1orf50
      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 

    Selected AceView cDNA sequences (see all 84):

    CK822498 AW843842 AI565626 CD676027 AA976347 BU553325 BM129836 BM666729 
    BE513409 BM702424 BE296338 CD369015 BQ071711 AI569708 AA741374 BU616601 
    BQ642209 AI371065 AI333445 BF970372 AI735682 AW732698 BQ062511 BM014824 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    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

    C1orf50 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C1orf50 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.148845
        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)
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    This gene was present in the common ancestor of animals.

    Orthologs for C1orf50 gene from Selected 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 C1ORF501 chromosome 21 open reading frame, human C1orf50 76.52(n)
    81.06(a)
      419506  XM_417656.4  XP_417656.2 
    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 68.8(n)
    71.51(a)
      553695  NM_001020669.1  NP_001018505.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG318001 CG31800 54.9(n)
    48.74(a)
      318947  NM_165272.2  NP_724152.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C08B11.91 C08B11.9 51.52(n)
    41.26(a)
      3564855  NM_001026763.2  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)
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    Paralogs for C1orf50 gene
    1 SIMAP similar gene for C1orf50 using alignment to 8 protein entries:     CA050_HUMAN (see all proteins):
    FLJ20555

    Find genes that share paralogs with C1orf50           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for C1orf50 (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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C1orf50
    DNA2.0 Custom Variant and Variant Library Synthesis for C1orf50

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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      --

    (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)
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    PubMed articles for C1orf50 gene integrated from 10 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. (Genome Res. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    3. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    4. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    5. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    6. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    7. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)
    8. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (Nat. Biotechnol. 2004)
    9. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 79078 HGNC: 28795 AceView: MGC955 Ensembl:ENSG00000164008 euGenes: HUgn79078
    ECgene: C1orf50 H-InvDB: C1orf50

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    Patent Information for C1orf50 gene:
    Search GeneIP for patents involving C1orf50

    GeneCards and IP:
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    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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     OriGene Antibodies for C1orf50   OriGene RNAi products in human, mouse, rat for C1orf50  
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