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C5orf24 Gene

protein-coding   GIFtS: 38
GCID: GC05P134181

Chromosome 5 Open Reading Frame 24

  Search for C5orf24
at  

(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 5 Open Reading Frame 241 2
UPF0461 Protein C5orf242

External Ids:    HGNC: 267461   Entrez Gene: 1345532   Ensembl: ENSG000001819047   UniProtKB: Q7Z6I83   

Export aliases for C5orf24 gene to outside databases

Previous GC identifers: GC05P134210 GC05P129367


(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 C5orf24 Gene:
C5orf24 (chromosome 5 open reading frame 24) 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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Regulatory elements:
   Regulatory transcription factor binding sites in the C5orf24 gene promoter:
         p53   Hand1   Nkx2-5   Evi-1   E47   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C5orf24

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C5orf24


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

Entrez Gene cytogenetic band: 5q31.1   Ensembl cytogenetic band:  5q31.1   HGNC cytogenetic band: 5q31.1

C5orf24 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C5orf24 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P134181:  view genomic region     (about GC identifiers)

Start:
134,181,370 bp from pter      End:
134,195,427 bp from pter
Size:
14,058 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CE024_HUMAN, Q7Z6I8 (See protein sequence)
Recommended Name: UPF0461 protein C5orf24  
Size: 188 amino acids; 20132 Da
Secondary accessions: D3DQA7 Q86Y53 Q8N1T9
Alternative splicing: 2 isoforms:  Q7Z6I8-1   Q7Z6I8-2   

Explore the universe of human proteins at neXtProt for C5orf24: NX_Q7Z6I8

Explore proteomics data for C5orf24 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys41, Lys146
  • Modification sites at PhosphoSitePlus

  • See C5orf24 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001129058.1  NP_689622.2  

    ENSEMBL proteins: 
     ENSP00000337044   ENSP00000378427   ENSP00000421647   ENSP00000395764   ENSP00000422620  
     ENSP00000426824  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    ProtoNet protein and cluster: Q7Z6I8

    UniProtKB/Swiss-Prot: CE024_HUMAN, Q7Z6I8
    Similarity: Belongs to the UPF0461 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Phenotypes:
         1 GenomeRNAi human phenotype for C5orf24:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C5orf24
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    hsa-miR-136 hsa-miR-3607-3p hsa-miR-25 hsa-miR-29a hsa-miR-3171 hsa-miR-4267 hsa-miR-548m hsa-miR-1276
    SwitchGear 3'UTR luciferase reporter plasmidC5orf24 3' UTR sequence
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    (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
    extracellular1

    (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 C5orf24
    Interactions:

        Search GeneGlobe Interaction Network for C5orf24

    (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 C5orf24 (CE024)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for C5orf24 gene (2 alternative transcripts): 
    NM_001135586.1  NM_152409.3  

    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000338051 ENST00000394976(uc003kzx.3 uc003kzy.4 uc003kzz.3)
    ENST00000504727 ENST00000435259 ENST00000508791 ENST00000507390
    miRNA
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    hsa-miR-136 hsa-miR-3607-3p hsa-miR-25 hsa-miR-29a hsa-miR-3171 hsa-miR-4267 hsa-miR-548m hsa-miR-1276
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    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat C5orf24
      QuantiFast Probe-based Assays in human, mouse, rat C5orf24

    Selected AceView cDNA sequences (see all 226):

    AA021631 CN480710 AW055005 BE247369 AI216397 AI803710 BU172618 BM141783 
    AA736995 AF085880 CA391537 BX648529 CD366225 AA327884 BG032358 AI678162 
    BE048862 AA736507 AJ437658 BM142063 AI379667 AI754039 AA764797 AA862968 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for C5orf24    About this scheme

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


    ECgene alternative splicing isoforms for C5orf24

    (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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    C5orf24 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTTGTATCT
    C5orf24 Expression
    About this image

    C5orf24 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C5orf24 Protein Expression
        Custom PCR Arrays for C5orf24
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C5orf24

    (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 chordates.

    Orthologs for C5orf24 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia B230219D22Rik1 , 5 RIKEN cDNA B230219D22 gene1, 5 91.49(n)1
    93.62(a)1
      13 (30.06 cM)5
    785211  NM_181278.21  NP_851795.11 
     556931245 
    chicken
    (Gallus gallus)
    Aves C13H5ORF241 chromosome 13 open reading frame, human C5orf24 82.62(n)
    84.04(a)
      416311  XM_004944992.1  XP_004945049.1 
    lizard
    (Anolis carolinensis)
    Reptilia C5orf246
    chromosome 5 open reading frame 24
    79(a)
    1 ↔ 1
    GL343223.1(315809-316375)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ637034.12   -- 83.57(n)    BJ637034.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CD759843.12   -- 76.77(n)    CD759843.1 


    ENSEMBL Gene Tree for C5orf24 (if available)
    TreeFam Gene Tree for C5orf24 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (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 C5orf24 (see all 313)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1489550801,2
    --134179445(+) TCACCA/TTGTTG 1 -- us2k10--------
    rs1868668161,2
    --134179705(+) AGGGCC/TGCCTG 2 -- us2k10--------
    rs1915281911,2
    C--134179794(+) TAAATA/GTTTTT 2 -- us2k10--------
    rs1837238871,2
    --134179979(+) TATTGA/GTATTT 2 -- us2k10--------
    rs1436400471,2
    --134180158(+) GCCTCC/TGTAGC 2 -- us2k10--------
    rs1383090461,2
    --134180231(+) AATCTC/GTCTAT 2 -- us2k10--------
    rs1462286681,2
    C--134180422(+) GTTTT-/TTGTTGTT 2 -- us2k10--------
    rs1489743111,2
    C--134180434(+) TGTTG-/TTGT  
            
    TTGTT
    2 -- us2k10--------
    rs1997973341,2
    --134180440(+) TGTTT-/GTTTGT 2 -- us2k10--------
    rs1873200491,2
    --134180559(+) AGTAGC/TTGGGA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for C5orf24 (134181370 - 134195427 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for C5orf24:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv830493CNV Loss17160897
    nsv523937CNV Gain19592680
    nsv830494CNV Gain+Loss17160897

    Site Specific Mutation Identification with 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.)
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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 C5orf24 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with C5orf24)
        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. (Nat. Genet. 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. 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. (Nat. Cell Biol. 2012)
    5. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    6. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
    7. ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. (PubMed id 17525332)2 Matsuoka S.... Elledge S.J. (Science 2007)
    8. 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)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. (PubMed id )2 

    (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: 134553 HGNC: 26746 AceView: FLJ37562 Ensembl:ENSG00000181904 euGenes: HUgn134553
    ECgene: C5orf24 H-InvDB: C5orf24

    (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 C5orf24 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 C5orf24 gene:
    Search GeneIP for patents involving C5orf24

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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