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C1orf192 Gene

protein-coding   GIFtS: 38
GCID: GC01M161334

Chromosome 1 Open Reading Frame 192

  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)
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Aliases
Chromosome 1 Open Reading Frame 1921 2
Flattop2
Fltp2
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NC_018912.2  NT_004487.20  
Regulatory elements:
   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 Chromatin IP Primers for C1orf192

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, Cloud-Clone Corp, and/or others.)
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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


See C1orf192 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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)
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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,
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 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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hsa-miR-3065-5p hsa-miR-4302
SwitchGear 3'UTR luciferase reporter plasmidC1orf192 3' UTR sequence
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1orf192


(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
nucleus2
cytosol1

(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 C1orf192
Interactions:

    Search GeneGlobe Interaction Network for C1orf192

(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 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,
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 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)
miRNA
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hsa-miR-3065-5p hsa-miR-4302
SwitchGear 3'UTR luciferase reporter plasmidC1orf192 3' UTR sequence
Inhib. RNA
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6 DOTS entries:

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

16 AceView cDNA sequences:

AA332561 BM970880 BU688150 AI758320 AI214859 BF438575 BF196784 AW468830 
BM978095 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™, 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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C1orf192 expression in normal human tissues (normalized intensities)
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
 selected tissues (see all 3) fully expand
 
 Gut Tube (Gastrointestinal Tract)
         Foregut
 
 Neural Tube (Nervous System)
         Mesencephalic Floor Plate
 
 Brain (Nervous System)
         Choroid Plexus
C1orf192 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C1orf192 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.534593
    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)
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This gene was present in the common ancestor of chordates.

Orthologs for C1orf192 gene from Selected 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
chromosome 1 open reading frame 192
53(a)
1 ↔ 1
GL344002.1(33879-42216)
zebrafish
(Danio rerio)
Actinopterygii C23H1orf1926
chromosome 1 open reading frame 192
31(a)
1 ↔ 1
23(20265670-20270363) ENSDARG00000070868


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)
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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 C1orf192 (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: --
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing C1orf192
DNA2.0 Custom Variant and Variant Library Synthesis for C1orf192

(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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7 diseases for C1orf192:    
About MalaCards
demyelinating polyneuropathy    polyneuropathy    tooth disease    charcot-marie-tooth disease
parkinson's disease    choroiditis    ulcerative colitis

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

C1orf192 for disorders           About GeneDecksing

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)
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PubMed articles for C1orf192 gene integrated from 10 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. (Genome Res. 1996)
  2. Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease. (PubMed id 22275255)1 Maeda M.H....Tsuji S. (Ann. Neurol. 2012)
  3. Genome-wide association identifies multiple ulcerative colitis susceptibility loci. (PubMed id 20228799)4 McGovern D.P....Seielstad M. (Nat. Genet. 2010)
  4. Identification of genes related to Parkinson's disease using expressed sequence tags. (PubMed id 17213182)1 Kim J.M.... Kim N.S. (DNA Res. 2006)
  5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)

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

(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 C1orf192 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 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, 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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The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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