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

C1orf192 Gene

protein-coding   GIFtS: 39
GCID: GC01M161334

Chromosome 1 Open Reading Frame 192

Alzheimer's & Parkinson's Diseases Congress
  See related diseases
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 1921 2
UPF0740 Protein C1orf1922

External Ids:    HGNC: 323251   Entrez Gene: 2571772   Ensembl: ENSG000001889317   UniProtKB: Q5VTH23   

Export aliases for C1orf192 gene to outside databases

Previous GC identifers: GC01M158148 GC01M159601 GC01M132691


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

GeneCards Summary for C1orf192 Gene: 
C1orf192 (chromosome 1 open reading frame 192) is a protein-coding gene. Diseases associated with C1orf192 include demyelinating polyneuropathy, and polyneuropathy.


(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_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C1orf192 gene promoter:
         AML1a   AREB6   CP2   POU2F1   POU2F1b   POU2F1a   Sox9   POU2F1c   FOXO1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C1orf192

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C1orf192


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

Entrez Gene cytogenetic band: 1q23.3   Ensembl cytogenetic band:  1q23.3   HGNC cytogenetic band: 1q23.3

C1orf192 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C1orf192 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M161334:  view genomic region     (about GC identifiers)

Start:
161,334,521 bp from pter      End:
161,337,664 bp from pter
Size:
3,144 bases      Orientation:
minus 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: CA192_HUMAN, Q5VTH2 (See protein sequence)
Recommended Name: UPF0740 protein C1orf192  
Size: 177 amino acids; 19293 Da

Explore the universe of human proteins at neXtProt for C1orf192: NX_Q5VTH2

Explore proteomics data for C1orf192 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5VTH2

  • C1orf192 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C1orf192 Protein Expression
    REFSEQ proteins: NP_001013647.2  
    ENSEMBL proteins: 
     ENSP00000356951  

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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: Q5VTH2

    UniProtKB/Swiss-Prot: CA192_HUMAN, Q5VTH2
    Similarity: Belongs to the UPF0740 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 C1orf192:
     Decreased TP53 protein express 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for 1700009P17Rik):
     normal 

    C1orf192 for phenotypes           About GeneDecksing

    Animal Models:
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for C1orf192 
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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 C1orf192

    (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 C1orf192 (CA192)

    Search CenterWatch for drugs/clinical trials and news about C1orf192 / CA192

    (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,
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    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 C1orf192 gene: 
    NM_001013625.3  

    Unigene Cluster for C1orf192:

    Chromosome 1 open reading frame 192
    Hs.534593  [show with all ESTs]
    Unigene Representative Sequence: BM800357
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000367974(uc001gal.3)

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    Inhib. RNA
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    6 DOTS entries:

    DT.65285133  DT.451616  DT.438924  DT.40273547  DT.95291802  DT.75133553 

    16 AceView cDNA sequences:

    AA332561 BM970880 AI758320 BU688150 AI214859 BM978095 BF438575 BF196784 
    AW468830 AA911688 AI798832 BQ448508 AW935711 AA740151 BF924167 BF924178 

    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

    C1orf192 expression in normal human tissues (normalized intensities)      C1orf192 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATCCAGACAG
    C1orf192 Expression
    About this image


    C1orf192 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Heart (Cardiovascular System)
             heart/ventricle   
     
     Pancreas (Endocrine System)
             Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Neural Tube (Nervous System)
             Mesencephalic Floor Plate
     
     Brain (Nervous System)
             Choroid Plexus

    See C1orf192 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C1orf192

    SOURCE GeneReport for Unigene cluster: Hs.534593
        SABiosciences Custom PCR Arrays for C1orf192
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1orf192

    (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 C1orf192 gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 1700009P17Rik1 , 5 RIKEN cDNA 1700009P17 gene1, 5 84.09(n)1
    78.98(a)1
      1 (78.96 cM)5
    754721  NM_001081275.11  NP_001074744.11 
     1711139185 
    lizard
    (Anolis carolinensis)
    Reptilia C1ORF1926
    Uncharacterized protein
    53(a)
    1 ↔ 1
    GL344002.1(33879-42216)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1529161 zgc:152916 51.87(n)
    40.62(a)
      751706  NM_001045418.1  NP_001038883.1 


    ENSEMBL Gene Tree for C1orf192 (if available)
    TreeFam Gene Tree for C1orf192 (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

    10/118 SNPs in C1orf192 are shown (see all 118)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1997270541,2
    C--161335067(+) ATAAG-/AAAAGT 1 -- int10--------
    rs1811025971,2
    --161335133(+) TGTTGA/GGGGTA 1 -- int10--------
    rs1142973091,2
    C,F--161335217(+) AGGTCC/ACCCAT 1 -- int11Minor allele frequency- A:0.05WA 118
    rs133740371,2
    C,F,A,H--161335281(+) GAGACT/AACAGG 1 -- int111Minor allele frequency- A:0.11NS EA WA NA CSA EU 1356
    rs2019180241,2
    C--161335299(+) GTTAGA/TTGGGA 1 -- int11Minor allele frequency- T:0.00EU 1243
    rs1853681511,2
    C--161335344(+) GCCCAC/TTGGAG 2 N S mis10--------
    rs1386948741,2
    C--161335361(+) AGTAAA/GTCAGG 2 D syn10--------
    rs1418815551,2
    C,F--161335414(+) TGTACG/AGGAGG 2 /R /C mis12Minor allele frequency- A:0.00NA EU 5843
    rs1496883611,2
    C,F--161335431(+) TCACCC/TGAGCA 2 Q R mis12Minor allele frequency- T:0.00NA EU 5841
    rs1465034751,2
    C--161335470(+) TGCCCA/TTGAAG 2 K M mis11Minor allele frequency- T:0.00NA 4540

    HapMap Linkage Disequilibrium report for C1orf192 (161334521 - 161337664 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for C1orf192: --
    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
    4 diseases for C1orf192:    About MalaCards
    demyelinating polyneuropathy    polyneuropathy    tooth disease    parkinson's disease

    1 disease from the University of Copenhagen DISEASES database for C1orf192:
    Demyelinating polyneuropathy

    C1orf192 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): C1orf192

    Export disorders for C1orf192 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)
    About This Section

    PubMed articles for C1orf192 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C1orf192)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1, 2 Bonaldo M.F.... Soares M.B. (1996)
    2. Increased gene dosage of myelin protein zero causes Ch arcot-Marie-Tooth disease. (PubMed id 22275255)1 Maeda M.H....Tsuji S. (2012)
    3. Genome-wide association identifies multiple ulcerativ e colitis susceptibility loci. (PubMed id 20228799)4 McGovern D.P....Weersma R.K. (2010)
    4. Identification of genes related to Parkinson's disease using expressed sequence tags. (PubMed id 17213182)1 Kim J.M....Kim N.S. (2006)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)

    (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: 257177 HGNC: 32325 AceView: LOC257177 Ensembl:ENSG00000188931 euGenes: HUgn257177
    ECgene: C1orf192 H-InvDB: C1orf192

    (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 C1orf192 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 C1orf192 gene:
    Search GeneIP for patents involving C1orf192

    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
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    About This Section

     
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