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

C5orf51 Gene

protein-coding   GIFtS: 39
GCID: GC05P041910

Chromosome 5 Open Reading Frame 51

  Search for C5orf51
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 5 Open Reading Frame 511 2
UPF0600 Protein C5orf512

External Ids:    HGNC: 277501   Entrez Gene: 2856362   Ensembl: ENSG000002057657   UniProtKB: A6NDU83   

Export aliases for C5orf51 gene to outside databases

Previous GC identifers: GC05P041940 GC05P041857 GC05P041905 GC05P041906 GC05P041907 GC05P041908 GC05P041909


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

GeneCards Summary for C5orf51 Gene: 
C5orf51 (chromosome 5 open reading frame 51) 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_000005.9  NT_006576.16  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C5orf51 gene promoter:
         MEF-2A   USF1   AML1a   USF-1   Hand1   aMEF-2   GATA-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C5orf51

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C5orf51


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

Entrez Gene cytogenetic band: 5p13.1   Ensembl cytogenetic band:  5p13.1   HGNC cytogenetic band: 5p13.1

C5orf51 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C5orf51 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P041910:  view genomic region     (about GC identifiers)

Start:
41,904,290 bp from pter      End:
41,921,738 bp from pter
Size:
17,449 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: CE051_HUMAN, A6NDU8 (See protein sequence)
Recommended Name: UPF0600 protein C5orf51  
Size: 294 amino acids; 33620 Da
Sequence caution: Sequence=AAI31722.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice
sites;
Secondary accessions: A2RRM9

Explore the universe of human proteins at neXtProt for C5orf51: NX_A6NDU8

Explore proteomics data for C5orf51 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_A6NDU8

  • C5orf51 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C5orf51 Protein Expression
    REFSEQ proteins: NP_787117.3  
    ENSEMBL proteins: 
     ENSP00000371061  

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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: A6NDU8

    UniProtKB/Swiss-Prot: CE051_HUMAN, A6NDU8
    Similarity: Belongs to the UPF0600 family


    (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 C5orf51:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for C5orf51 
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    SwitchGear 3'UTR luciferase reporter plasmidC5orf51 3' UTR sequence
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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 C5orf51

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for C5orf51 (A6NDU83 ENSP000003710614) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CAMKK2Q96RR43I2D: score=1 
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    UBCENSP000003448184STRING: ENSP00000344818
    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 C5orf51 (CE051)

    Search CenterWatch for drugs/clinical trials and news about C5orf51 / CE051

    (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 C5orf51 gene: 
    NM_175921.4  

    Unigene Cluster for C5orf51:

    Chromosome 5 open reading frame 51
    Hs.29899  [show with all ESTs]
    Unigene Representative Sequence: NM_175921
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000505931 ENST00000381647(uc003jmo.3) ENST00000509976
    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidC5orf51 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C5orf51
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C5orf51
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C5orf51
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C5orf51

    Additional mRNA sequence: 

    AK094002.1 AL833916.1 BC131721.1 

    4 DOTS entries:

    DT.70102807  DT.315582  DT.100888333  DT.40207983 

    24/80 AceView cDNA sequences (see all 80):

    AA417772 AI093102 AK094002 AL833916 BQ010827 BU609216 AX748406 R79786 
    AI358353 AA283886 AW731692 AA236186 BX103366 AL046640 N94005 BM980229 
    R79881 AA653884 BE794875 BU624671 AA070514 AA887206 BQ720445 AA283887 

    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

    C5orf51 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTATTTCTTC
    C5orf51 Expression
    About this image


    See C5orf51 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C5orf51

    SOURCE GeneReport for Unigene cluster: Hs.29899
        SABiosciences Custom PCR Arrays for C5orf51
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C5orf51

    (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 C5orf51 gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia AW5498771 , 5 expressed sequence AW5498771, 5 86.05(n)1
    88.78(a)1
      15 (1.84 cM)5
    1060641  NM_145930.21  NP_666042.21 
     39820365 
    chicken
    (Gallus gallus)
    Aves CZH5orf511 chromosome Z open reading frame, human C5orf51 65.47(n)
    55.91(a)
      427191  XM_424778.2  XP_424778.2 
    lizard
    (Anolis carolinensis)
    Reptilia C5ORF516
    Uncharacterized protein
    53(a)
    1 ↔ 1
    2(6576670-6595166)
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-46a10.31 si:dkey-46a10.3 55.69(n)
    50.62(a)
      325885  NM_001128229.1  NP_001121701.1 


    ENSEMBL Gene Tree for C5orf51 (if available)
    TreeFam Gene Tree for C5orf51 (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

    10/345 SNPs in C5orf51 are shown (see all 345)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs782221261,2
    C,F--41902687(+) ACATAG/AATCCT 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs2774111,2
    C,F,A,H--41902711(-) TCAGGT/CTTTTA 1 -- us2k123Minor allele frequency- C:0.17NS EA NA WA CSA 1856
    rs1865807471,2
    --41902725(+) GAACAA/GTGGAC 1 -- us2k10--------
    rs1413507051,2
    C--41902992(+) CAGGTA/GTAACC 1 -- us2k10--------
    rs1149028041,2
    F--41903015(+) CTCTAT/ACCATT 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs168720211,2
    C,F--41903101(+) CTCCAC/TCCTAC 1 -- us2k15Minor allele frequency- T:0.02NA WA 262
    rs1159598741,2
    F--41903142(+) CCTTCT/CCCATC 1 -- us2k11Minor allele frequency- C:0.02WA 118
    rs1913876361,2
    --41903225(+) CACTAC/TTGAAT 1 -- us2k10--------
    rs1829523901,2
    --41903392(+) ACAAAG/TGTCAG 1 -- us2k10--------
    rs1861319391,2
    --41903539(+) AAACTC/GAGAAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for C5orf51 (41904290 - 41921738 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for C5orf51:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv327668CNV Loss16902084
    nsv830272CNV Gain17160897
    nsv830273CNV Gain17160897

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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 C5orf51 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C5orf51)
        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, 3 Ota T.... Sugano S. (2004)
    3. The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)1, 2 Schmutz J.... Rubin E.M. (2004)
    4. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    7. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    8. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (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: 285636 HGNC: 27750 AceView: LOC285636 Ensembl:ENSG00000205765 euGenes: HUgn285636
    ECgene: C5orf51 H-InvDB: C5orf51

    (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 C5orf51 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 C5orf51 gene:
    Search GeneIP for patents involving C5orf51

    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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    (GIFtS: 73)
    transforming growth factor, beta 1
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