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C1orf52 Gene

protein-coding   GIFtS: 44
GCID: GC01M085715

Chromosome 1 Open Reading Frame 52

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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 521 2
BCL10-Associated Gene Protein2 3
gm1172
UPF0690 Protein C1orf522
BAG3

External Ids:    HGNC: 248711   Entrez Gene: 1484232   Ensembl: ENSG000001626427   UniProtKB: Q8N6N33   

Export aliases for C1orf52 gene to outside databases

Previous GC identifers: GC01M085428 GC01M083826


(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 C1orf52 Gene:
C1orf52 (chromosome 1 open reading frame 52) 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 C1orf52 gene promoter:
         TBP   HEN1   FAC1   Nkx6-1   TFIID   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   Roaz   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C1orf52

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C1orf52


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

Entrez Gene cytogenetic band: 1p22.3   Ensembl cytogenetic band:  1p22.3   HGNC cytogenetic band: 1p22.3

C1orf52 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C1orf52 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M085715:  view genomic region     (about GC identifiers)

Start:
85,715,636 bp from pter      End:
85,725,355 bp from pter
Size:
9,720 bases      Orientation:
minus 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, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CA052_HUMAN, Q8N6N3 (See protein sequence)
Recommended Name: UPF0690 protein C1orf52  
Size: 182 amino acids; 20599 Da
Secondary accessions: B3KX89 Q8TDK5 Q8TDK6
Alternative splicing: 3 isoforms:  Q8N6N3-1   Q8N6N3-2   Q8N6N3-3   

Explore the universe of human proteins at neXtProt for C1orf52: NX_Q8N6N3

Explore proteomics data for C1orf52 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys78
  • Modification sites at PhosphoSitePlus

  • See C1orf52 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_932343.1  
    ENSEMBL proteins: 
     ENSP00000419417   ENSP00000345092  

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    Search antibodies-online for peptides for C1orf52

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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: Q8N6N3

    UniProtKB/Swiss-Prot: CA052_HUMAN, Q8N6N3
    Similarity: Belongs to the UPF0690 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with C1orf52           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for C1orf52

    miRNA
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    miRTarBase miRNAs that target C1orf52:
    hsa-mir-101-3p (MIRT027370)

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    hsa-miR-323-3p hsa-miR-607 hsa-miR-513a-5p hsa-miR-128 hsa-miR-138-2* hsa-miR-650 hsa-miR-371-5p hsa-miR-105
    SwitchGear 3'UTR luciferase reporter plasmidC1orf52 3' UTR sequence
    Inhib. RNA
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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
    nucleus3
    cytosol2

    (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 C1orf52
    Interactions:

        Search GeneGlobe Interaction Network for C1orf52

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

    4 Interacting proteins for C1orf52 (Q8N6N32, 3 ENSP000004194174) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ETS1P149213I2D: score=1 
    NFKB1P198383I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    --P310162MINT-8107085
    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 C1orf52 (CA052)



    (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 C1orf52 gene: 
    NM_198077.3  

    Unigene Cluster for C1orf52:

    Chromosome 1 open reading frame 52
    Hs.26226  [show with all ESTs]
    Unigene Representative Sequence: BC051692
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000294661(uc001dkw.3 uc001dkv.3 uc001dkx.4 uc009wcn.3)
    ENST00000471115 ENST00000493514 ENST00000344356
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate C1orf52 (see all 45):
    hsa-miR-323-3p hsa-miR-607 hsa-miR-513a-5p hsa-miR-128 hsa-miR-138-2* hsa-miR-650 hsa-miR-371-5p hsa-miR-105
    SwitchGear 3'UTR luciferase reporter plasmidC1orf52 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat C1orf52
      QuantiFast Probe-based Assays in human, mouse, rat C1orf52

    Additional mRNA sequence: 

    AF387611.1 AF387612.1 AK024939.1 AK126929.1 AY486331.1 AY486332.1 BC029538.1 BC051692.1 
    NR_024113.1 

    3 DOTS entries:

    DT.97837880  DT.101977185  DT.452447 

    Selected AceView cDNA sequences (see all 72):

    AF387612 CA392253 AY486331 AF387611 AA905798 AL704319 NM_198077 AA760904 
    BU173820 BC029538 AK126929 AY486332 BI914006 BC051692 AW262213 BI597128 
    AI379673 CA391634 AI352059 AA403134 BE351047 AK024939 AA983378 AA403160 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for C1orf52    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b
    SP1:                                    
    SP2:              -                     


    ECgene alternative splicing isoforms for C1orf52

    (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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    C1orf52 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAATAAAAT
    C1orf52 Expression
    About this image

    C1orf52 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C1orf52 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.26226

    UniProtKB/Swiss-Prot: CA052_HUMAN, Q8N6N3
    Tissue specificity: Expressed in all tissues tested including heart, placenta, liver, skeletal muscle, kidney and
    pancreas. Weak expression in brain and lung

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1orf52

    (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 C1orf52 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 2410004B18Rik1 , 5 RIKEN cDNA 2410004B18 gene1, 5 82.04(n)1
    86.11(a)1
      3 (71.03 cM)5
    664211  NM_025555.41  NP_079831.11 
     1459380145 
    chicken
    (Gallus gallus)
    Aves C8H1ORF521 chromosome 8 open reading frame, human C1orf52 67.05(n)
    65.34(a)
      424529  NM_001277560.1  NP_001264489.1 
    lizard
    (Anolis carolinensis)
    Reptilia C1orf526
    chromosome 1 open reading frame 52
    57(a)
    1 ↔ 1
    GL343194.1(10262321-10273167)
    African clawed frog
    (Xenopus laevis)
    Amphibia BI450166.12   -- 78.8(n)    BI450166.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc658732 hypothetical protein MGC65873 78.22(n)   393514  BC056319.1 


    ENSEMBL Gene Tree for C1orf52 (if available)
    TreeFam Gene Tree for C1orf52 (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 C1orf52 (see all 277)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs120471831,2
    C--85715240(+) aaattA/Ctctct 2 -- ds50011Minor allele frequency- C:0.00NA 2
    rs1813459711,2
    --85715344(+) CCCAAC/TAAGTT 2 -- ds50010--------
    rs111615671,2
    C,A--85715453(+) aaactG/Ttccca 2 -- ds50011Minor allele frequency- T:0.50NA 2
    rs1151894131,2
    F--85715533(+) TTCCAC/TGTTTT 2 -- ds50011Minor allele frequency- T:0.01NA 120
    rs1465143891,2
    --85715661(+) TTGGAC/TTTACA 2 -- ut31 nc-transcript-variant0--------
    rs1839798191,2
    --85715674(+) TCCACA/GTGGCT 2 -- ut31 nc-transcript-variant0--------
    rs31796541,2
    F--85715709(-) CCTCTT/CGCCTT 2 -- ut31 nc-transcript-variant2Minor allele frequency- C:0.00NA 4
    rs795571681,2
    C--85715748(-) CTCTCC/TTTTGC 4 -- ut31 nc-transcript-variant1Minor allele frequency- T:0.50NA 2
    rs1810712131,2
    --85715787(+) GGTTTC/TTAAAA 2 -- ut31 nc-transcript-variant0--------
    rs113701,2
    C,F--85715878(+) TGACAC/TGTGGG 2 -- ut31 nc-transcript-variant4Minor allele frequency- T:0.09NA EA 244

    HapMap Linkage Disequilibrium report for C1orf52 (85715636 - 85725355 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for C1orf52:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv830459CNV Loss17160897
    esv34165CNV Loss18971310

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C1orf52
    DNA2.0 Custom Variant and Variant Library Synthesis for C1orf52

    (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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    Find genes that share disorders with C1orf52           About GenesLikeMe

    Human Genome Epidemiology (HuGE) Navigator: C1orf52 (1 document)

    Export disorders for C1orf52 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)
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    PubMed articles for C1orf52 gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with C1orf52)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of six novel genes by experimental validation of GeneMachine predicted genes. (PubMed id 11891061)1, 2, 3 Makalowska I.... Carpten J.D. (Gene 2002)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    4. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (Nat. Biotechnol. 2005)
    5. 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)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    7. 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)
    8. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
    9. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    10. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)

    (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: 148423 HGNC: 24871 AceView: gm117 Ensembl:ENSG00000162642 euGenes: HUgn148423
    ECgene: C1orf52 H-InvDB: C1orf52

    (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 C1orf52 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 C1orf52 gene:
    Search GeneIP for patents involving C1orf52

    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, 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 genOway)
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