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

C1orf192 Gene

protein-coding   GIFtS: 38
GCID: GC01M161334

chromosome 1 open reading frame 192
 Explore 2 diseases affiliated with
C1orf192 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for C1orf192    

Aliases
for C1orf192 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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


Summaries
for C1orf192 gene

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

Genomic Views
for C1orf192 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  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

Proteins
for C1orf192 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5VTH2

    • C1orf192 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001013647.2  
    ENSEMBL proteins: 
     ENSP00000356951  

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    Protein Domains /
    Families
    for C1orf192 gene

    (According to 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


    Function
    for C1orf192 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    miRNA
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    1 GenomeRNAi human phenotype for C1orf192:
     Decreased TP53 protein express 

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

    C1orf192 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for C1orf192 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C1orf192

    Drugs & Compounds
    for C1orf192 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
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    Browse Tocris compounds for C1orf192
    Search CenterWatch for drugs/clinical trials and news about C1orf192 / CA192 

    Transcripts
    for C1orf192 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    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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    hsa-miR-3065-5p hsa-miR-4302
    SwitchGear 3'UTR luciferase reporter plasmid: C1orf192 3' UTR sequence
    Inhib. RNA
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    Clone
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    6 DOTS entries:

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

    16 AceView cDNA sequences:

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

    GeneLoc Exon Structure


    Expression
    for C1orf192 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATCCAGACAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    C1orf192 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainChoroid PlexusBrain
    Neural TubeMetencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Dorsal forebrain-like neurons (Generation of midbra...)Brain
    Posterior foregut-like cells (A scalable, suspensi...)

    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:     
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    Orthologs
    for C1orf192 gene

    (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 3/12 species (see all 12)    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
    		 --
    		 54(a)
    		 1 ↔ 1
    		 GL344002.1(34101-36639)
    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
    for C1orf192 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for C1orf192 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/97 NCBI SNPs in C1orf192 are shown (see all 97)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1997270541,2
    		--161335067(+) ATAAG-/AAAAGT 1 -- int10--------
    rs1811025971,2
    		--161335133(+) TGTTGA/GGGGTA 1 -- int10--------
    rs1142973091,2
    		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
    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
    rs1167620151,2
    		F,--161335553(+) GACCTC/TTGTAT 1 -- int11Minor allele frequency- T:0.03WA 118

    HapMap Linkage Disequilibrium report for C1orf192 (161334521 - 161337664 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for C1orf192: --

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    Disorders / Diseases
    for C1orf192 gene

    (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.)
    About This Section
    C1orf192 for disorders           About GeneDecksing

    2 diseases for C1orf192:    About MalaCards
    demyelinating polyneuropathy    polyneuropathy

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

    Export disorders for C1orf192 gene to outside databases

    Publications
    for C1orf192 gene

    (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. Identification of genes related to Parkinson's disease using expressed sequence tags. (PubMed id 17213182)1 Kim J.M....Kim N.S. (2006)
    4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)

    External Searches for C1orf192 gene

    (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)

    Genome Databases showing C1orf192 gene

    (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

    Other Databases showing C1orf192 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing C1orf192 gene

    (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

    Intellectual Property
    for C1orf192 gene

    (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



    Products
    for C1orf192 gene

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    About This Section

     
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