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

C1orf112 Gene

protein-coding   GIFtS: 39
GCID: GC01P169631          (predicted)

chromosome 1 open reading frame 112

 Explore 4 diseases affiliated with
C1orf112 via our new
 Human Malady Compendium 
Biological research products
for C1orf112
    

(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 1121 2
FLJ107061
RP1-97P20.12
Uncharacterized Protein C1orf1122

External Ids:    HGNC: 255651   Entrez Gene: 557322   Ensembl: ENSG000000004607   UniProtKB: Q9NSG23   

Export aliases for C1orf112 gene to outside databases

Previous GC identifers: GC01P166496 GC01P168030 GC01P140986


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

  --

(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 C1orf112 gene promoter:
         RP58   AP-1   ATF-2   CUTL1   IRF-1   LCR-F1   Evi-1   IRF-2   COMP1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C1orf112

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C1orf112


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

Entrez Gene cytogenetic band: 1q24.2   Ensembl cytogenetic band:  1q24.2   HGNC cytogenetic band: 1q24.2

C1orf112 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C1orf112 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P169631:  view genomic region     (about GC identifiers)

Start:
169,631,245 bp from pter      End:
169,823,221 bp from pter
Size:
191,977 bases      Orientation:
plus strand

(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: CA112_HUMAN, Q9NSG2 (See protein sequence)
Recommended Name: Uncharacterized protein C1orf112  
Size: 853 amino acids; 96554 Da
Secondary accessions: A6NFP1 B3KU42 Q3KNQ1 Q9H8L5 Q9NVJ0
Alternative splicing: 3 isoforms:  Q9NSG2-1   Q9NSG2-2   Q9NSG2-3   

Explore the universe of human proteins at neXtProt for C1orf112: NX_Q9NSG2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NSG2

  • C1orf112 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_060656.2  
    ENSEMBL proteins: 
     ENSP00000352276   ENSP00000286031   ENSP00000415583   ENSP00000389257  

    Human Recombinant Protein Products: 
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    Uscn Proteins for C1orf112


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    Uscn Antibodies for C1orf112
    Search ThermoFisher Antibodies for C1orf112

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    Uscn ELISAs and CLIAs for C1orf112


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: Q9NSG2


    (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
    Products:
        
    OriGene 3'-UTR Clone: C1orf112
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat C1orf112
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    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for C1orf112 (see all 4)
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C1orf112 (see all 2)
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    GenScript: all cDNA clones in your preferred vector: C1orf112 (NM_018186)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C1orf112 

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    Search LifeMap BioReagents cell lines for C1orf112

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1orf112

    1 GenomeRNAi human phenotype for C1orf112:
     Increased gamma-H2AX phosphory 

    Animal Models:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for BC055324):
     skeleton 

    C1orf112 for phenotypes           About GeneDecksing


    (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 C1orf112

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/7 Interacting proteins for C1orf112 (ENSP000002860314) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C1orf194ENSP000003589654STRING: ENSP00000358965
    LCE2BENSP000003577694STRING: ENSP00000357769
    PLSCR4ENSP000003470384STRING: ENSP00000347038
    UBCENSP000003448184STRING: ENSP00000344818
    --ENSP000004021484STRING: ENSP00000402148
    About this table

    (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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for C1orf112
    Search CenterWatch for drugs/clinical trials and news about C1orf112 / CA112 

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for C1orf112 gene: 
    NM_018186.2  

    Unigene Cluster for C1orf112:

    Chromosome 1 open reading frame 112
    Hs.443551  [show with all ESTs]
    Unigene Representative Sequence: AK127098
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000498289(uc001ggj.3) ENST00000472795(uc001ggo.3) ENST00000496973
    ENST00000481744 ENST00000359326(uc009wvu.1 uc001ggp.3 uc009wvt.3 uc001ggr.3 uc010plv.2)
    ENST00000459772 ENST00000466580 ENST00000286031(uc001ggq.3) ENST00000456684
    ENST00000413811(uc010plu.1)

    miRNA
    Products:
         
    OriGene 3'-UTR Clone: C1orf112
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat C1orf112
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for C1orf112 (see all 4)
    OriGene shRNA RFP: C1orf112
    Browse OriGene siRNA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C1orf112
    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C1orf112 (see all 2)
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    GenScript: all cDNA clones in your preferred vector: C1orf112 (NM_018186)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C1orf112
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C1orf112 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C1orf112
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C1orf112

    Additional cDNA sequence: 

    AK001568.1 AK023532.1 AK096493.1 AK127098.1 AK294569.1 AK299369.1 AK303296.1 AK310638.1 
    AL354614.1 BC011012.1 BC011445.1 BC062689.1 BC091516.1 BC107168.1 BC107169.1 

    17 DOTS entries:

    DT.314364  DT.100790411  DT.100790410  DT.308050  DT.315880  DT.101969678  DT.100672427  DT.102826421 
    DT.92422480  DT.95262969  DT.100022323  DT.101977103  DT.95187885  DT.100790412  DT.95262959  DT.97841889 
    DT.95092964 

    24/72 AceView cDNA sequences (see all 72):

    AL354614 AU136105 AA045249 BE793726 NM_018186 AA505146 AK096493 AK023532 
    CR626458 BU193278 BX376232 AK001568 BU940610 AA372264 AA978262 N90432 
    BP372809 AA045214 CB159947 AI221282 AA491378 BX280163 AA913852 BC011012 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for C1orf112 (see all 6)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                -     -                                                                     
    SP3:                                -                 -                                                                                                         
    SP4:        -     -     -           -                                                                                                                           
    SP5:        -     -     -                                                                                                                                       

    ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25a · 25b
    SP1:                                    
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for C1orf112

    (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

    C1orf112 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    About this image
    See C1orf112 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C1orf112

    SOURCE GeneReport for Unigene cluster: Hs.443551
        SABiosciences Custom PCR Arrays for C1orf112
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1orf112

    (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 C1orf112 gene from 5/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia BC0553241 , 5 cDNA sequence BC0553241, 5 81.36(n)1
    72.99(a)1
      1 (71.25 cM)5
    3813061  NM_201364.11  NP_958752.11 
     1639459935 
    chicken
    (Gallus gallus)
    Aves C8H1orf1121 chromosome 8 open reading frame, human C1orf112 65.31(n)
    58.97(a)
      424399  XM_422243.3  XP_422243.3 
    lizard
    (Anolis carolinensis)
    Reptilia C1orf1126
    --
    49(a)
    1 ↔ 1
    2(94201400-94237886)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.4812 Transcribed sequence with weak similarity to protein more 77.31(n)    AL861370.2 
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-97o5.11 si:dkey-97o5.1 54.29(n)
    46.59(a)
      553598  NM_001020659.1  NP_001018495.1 


    ENSEMBL Gene Tree for C1orf112 (if available)
    TreeFam Gene Tree for C1orf112 (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, 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

    10/1095 NCBI SNPs in C1orf112 are shown (see all 1095    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1416158751,2
    --169762990(+) AGAGAC/TATTTC 2 -- ut51 us2k10--------
    rs618078141,2
    C,--169763125(+) AGCCAC/ACCCCA 2 -- int1 us2k15Minor allele frequency- A:0.09NA CSA WA EA 362
    rs120591821,2
    C,F,H,--169763126(+) GCCACC/TCCCAC 2 -- us2k1 int17Minor allele frequency- T:0.06NS NA WA 844
    rs109192451,2
    C,F,--169763139(+) CTCCCC/TGTCCC 2 -- us2k1 int113Minor allele frequency- T:0.28NA WA CSA EA 376
    rs1812537651,2
    --169763178(+) TGTGGA/GGAAGA 2 -- int1 us2k10--------
    rs22810391,2
    C,F,--169763229(+) GGTTCA/CAAAGT 2 -- int1 us2k116Minor allele frequency- C:0.22NA WA CSA EA 517
    rs1426868951,2
    C,--169763307(+) AACAT-/AAAAGT 2 -- int1 us2k10--------
    rs1383216251,2
    --169763328(+) TCAGAC/TAGGAC 2 -- us2k1 int10--------
    rs1869234011,2
    --169763363(+) GCTGTC/GTTGAT 2 -- int1 us2k10--------
    rs2013803171,2
    --169763422(+) CTGTC-/TTTTAC 2 -- int1 us2k10--------

    HapMap Linkage Disequilibrium report for C1orf112 (169631245 - 169823221 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for C1orf112
         1 CNV: 3319

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C1orf112
    DNA2.0 Custom Variant and Variant Library Synthesis for C1orf112

    (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

    C1orf112 for disorders           About GeneDecksing

    4 diseases for C1orf112:    About MalaCards
    essential hypertension    hypertension    t-cell leukemia    leukemia

    Human Genome Epidemiology (HuGE) Navigator: C1orf112 (3 documents)

    Export disorders for C1orf112 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 C1orf112 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with C1orf112)
        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. (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. (2002)
    3. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    4. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    5. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    7. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    8. Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861)2 Choudhary C.... Mann M. (2009)
    9. Follow-up of a major linkage peak on chromosome 1 rev eals suggestive QTLs associated with essential hypertension: GenNet study. (PubMed id 19536175)1 Ehret G.B....Chakravarti A. (2009)
    10. Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation. (PubMed id 19064610)1 Cheung C.L....Kung A.W. (2009)

    (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: 55732 HGNC: 25565 AceView: FLJ10706 Ensembl:ENSG00000000460 euGenes: HUgn55732
    ECgene: C1orf112 H-InvDB: C1orf112

    (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 C1orf112 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 C1orf112 gene:
    Search GeneIP for patents involving C1orf112

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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