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

C1orf123 Gene

protein-coding   GIFtS: 45
GCID: GC01M053679          (predicted)

Chromosome 1 Open Reading Frame 123

  Search for C1orf123
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 1231 2
UPF0587 Protein C1orf1232

External Ids:    HGNC: 260591   Entrez Gene: 549872   Ensembl: ENSG000001623847   UniProtKB: Q9NWV43   

Export aliases for C1orf123 gene to outside databases

Previous GC identifers: GC01M053392 GC01M053452 GC01M051795


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

GeneCards Summary for C1orf123 Gene: 
C1orf123 (chromosome 1 open reading frame 123) is a protein-coding gene. GO annotations related to this gene include molecular_function.


(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_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C1orf123 gene promoter:
         AML1a   FOXO3   CUTL1   HNF-3beta   FOXO3b   FOXO3a   AP-2alpha   AP-2alphaA   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C1orf123

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C1orf123


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

Entrez Gene cytogenetic band: 1p32.3   Ensembl cytogenetic band:  1p32.3   HGNC cytogenetic band: 1p32.3

C1orf123 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C1orf123 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M053679:  view genomic region     (about GC identifiers)

Start:
53,679,771 bp from pter      End:
53,686,289 bp from pter
Size:
6,519 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: CA123_HUMAN, Q9NWV4 (See protein sequence)
Recommended Name: UPF0587 protein C1orf123  
Size: 160 amino acids; 18048 Da

Explore the universe of human proteins at neXtProt for C1orf123: NX_Q9NWV4

Explore proteomics data for C1orf123 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NWV4

  • C1orf123 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C1orf123 Protein Expression
    REFSEQ proteins: NP_060357.1  
    ENSEMBL proteins: 
     ENSP00000294360  

    Human Recombinant Protein Products for C1orf123: 
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    Novus Biologicals C1orf123 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for C1orf123 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--

    C1orf123 for ontologies           About GeneDecksing



    C1orf123 Antibody Products: 
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    Assay Products for C1orf123: 
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    Cloud-Clone Corp. ELISAs for C1orf123 
    Cloud-Clone Corp. CLIAs for C1orf123


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR008584 DUF866_euk

    Graphical View of Domain Structure for InterPro Entry Q9NWV4

    ProtoNet protein and cluster: Q9NWV4

    UniProtKB/Swiss-Prot: CA123_HUMAN, Q9NWV4
    Similarity: Belongs to the UPF0587 family


    C1orf123 for domains           About GeneDecksing


    (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

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    C1orf123 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for C1orf123:
     Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for C1orf123 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for C1orf123

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for C1orf123 
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    miRNA
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    hsa-miR-3934 hsa-miR-4264 hsa-miR-218-2* hsa-miR-2116 hsa-miR-510 hsa-miR-223* hsa-miR-4277
    SwitchGear 3'UTR luciferase reporter plasmidC1orf123 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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                         Customized lentivirus expression plasmids for stable overexpression of C1orf123 

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    In Situ Assay
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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 C1orf123

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    5/13 Interacting proteins for C1orf123 (Q9NWV42, 3 ENSP000002943604) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ANXA1P040832, 3, ENSP000002574974MINT-8247742 I2D: score=2 STRING: ENSP00000257497
    CDKN1AP389363, ENSP000002447414I2D: score=3 STRING: ENSP00000244741
    TMBIM6P550613I2D: score=3 
    AGMATENSP000003649864STRING: ENSP00000364986
    CASP9ENSP000003302374STRING: ENSP00000330237
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    C1orf123 for ontologies           About GeneDecksing



    (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 C1orf123 (CA123)

    Search CenterWatch for drugs/clinical trials and news about C1orf123 / CA123

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 C1orf123 gene: 
    NM_017887.1  

    Unigene Cluster for C1orf123:

    Chromosome 1 open reading frame 123
    Hs.525391  [show with all ESTs]
    Unigene Representative Sequence: AK092734
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000294360(uc001cvd.3) ENST00000483739 ENST00000470385 ENST00000478839
    ENST00000489755 ENST00000474227 ENST00000602807
    miRNA
    Products:
         
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    7 QIAGEN miScript miRNA Assays for microRNAs that regulate C1orf123:
    hsa-miR-3934 hsa-miR-4264 hsa-miR-218-2* hsa-miR-2116 hsa-miR-510 hsa-miR-223* hsa-miR-4277
    SwitchGear 3'UTR luciferase reporter plasmidC1orf123 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for C1orf123
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C1orf123
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C1orf123

    Additional mRNA sequence: 

    AK000587.1 AK092734.1 AK094371.1 BC010908.1 CR457246.1 

    9 DOTS entries:

    DT.317688  DT.100784735  DT.101969476  DT.91759963  DT.436564  DT.100029761  DT.91759959  DT.97824259 
    DT.100706716 

    24/219 AceView cDNA sequences (see all 219):

    BF058914 AI929048 AI221366 AI184747 BM719695 AI201921 AW300681 AA812230 
    AI685147 BQ719670 BC010908 AI742539 BI771520 F02899 CD515353 AI244914 
    AI284236 AA975540 BI917099 BG779235 CA429541 AI632758 N95766 CR603422 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for C1orf123 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d · 9e · 9f
    SP1:                    -           -                 -                                                         
    SP2:                    -           -                 -                                                         
    SP3:                    -           -     -           -                                                         
    SP4:                                -                 -                                                         
    SP5:                                                  -                                                         


    ECgene alternative splicing isoforms for C1orf123

    (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

    C1orf123 expression in normal human tissues (normalized intensities)      C1orf123 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGGACTTTA
    C1orf123 Expression
    About this image


    C1orf123 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Dermis (Integumentary System)
             Guard Dermal Papilla Cells Dermal Papilla

    See C1orf123 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C1orf123

    SOURCE GeneReport for Unigene cluster: Hs.525391
        SABiosciences Custom PCR Arrays for C1orf123
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    In Situ
    Assay Products:
     

     
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    (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 eukaryotes.

    Orthologs for C1orf123 gene from 9/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 0610037L13Rik1 , 5 RIKEN cDNA 0610037L13 gene1, 5 91.56(n)1
    94.94(a)1
      4 (50.18 cM)5
    740981  NM_028754.21  NP_083030.11 
     1078898135 
    chicken
    (Gallus gallus)
    Aves C8H1orf1231 chromosome 8 open reading frame, human C1orf123 79.58(n)
    83.75(a)
      424650  XM_422484.3  XP_422484.1 
    lizard
    (Anolis carolinensis)
    Reptilia C1ORF1236
    Uncharacterized protein
    85(a)
    1 ↔ 1
    4(115035359-115046181)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.234952 Transcribed sequence with moderate similarity to protein more 79.06(n)    57035284 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG46461 CG4646 55.49(n)
    46.84(a)
      36459  NM_137004.2  NP_610848.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F46B6.121 Protein F46B6.12 56.85(n)
    48.84(a)
      179370  NM_073120.3  NP_505521.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YCR090C)4
    YCR090C1
    Putative protein of unknown function; green fluorescent more4
    hypothetical protein1
    43.36(n)1
    27.45(a)1
      3(272863-272315)4
    8504521, 4  NP_010014.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G329301 hypothetical protein 52.55(n)
    39.58(a)
      829430  NM_119447.4  NP_567911.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g05656001 hypothetical protein 52.54(n)
    42.38(a)
      4327927  NM_001049892.1  NP_001043357.2 


    ENSEMBL Gene Tree for C1orf123 (if available)
    TreeFam Gene Tree for C1orf123 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C1orf123 gene

    C1orf123 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for C1orf123
    PGOHUM00000244811


    (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

    10/201 SNPs in C1orf123 are shown (see all 201)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1822453071,2
    C--53680422(+) CAAAAC/TGGCAT 1 -- int10--------
    rs752519051,2
    C,F--53680679(+) GTTCAT/CATTGA 1 -- int11Minor allele frequency- C:0.03EA 120
    rs1876940161,2
    --53680839(+) AAACCC/TGGTCT 1 -- int10--------
    rs1926167611,2
    --53680945(+) AGGCAA/GAGGTT 1 -- int10--------
    rs746038321,2
    C--53681020(+) ATACAT/CAAAAT 1 -- int13Minor allele frequency- C:0.18NA WA 240
    rs756011271,2
    C,F--53681287(+) AATACA/GGGGTT 1 -- int12Minor allele frequency- G:0.05NA 122
    rs1843201641,2
    --53681394(+) TGATTC/GATGAA 1 -- int10--------
    rs1901442951,2
    --53681418(+) GCACTA/GTAGCT 1 -- int10--------
    rs1931630011,2
    --53681426(+) GCTCAC/TGCCTG 1 -- int10--------
    rs1845655531,2
    --53681427(+) CTCATA/GCCTGA 1 -- int10--------

    HapMap Linkage Disequilibrium report for C1orf123 (53679771 - 53686289 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for C1orf123:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2422213CNV Duplication17116639
    nsv829871CNV Loss17160897

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing C1orf123
    DNA2.0 Custom Variant and Variant Library Synthesis for C1orf123

    (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
      --

    (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 C1orf123 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with C1orf123)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    2. 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. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. 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)
    5. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    6. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)
    7. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 54987 HGNC: 26059 AceView: FLJ20580 Ensembl:ENSG00000162384 euGenes: HUgn54987
    ECgene: C1orf123 H-InvDB: C1orf123

    (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 C1orf123 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 C1orf123 gene:
    Search GeneIP for patents involving C1orf123

    GeneCards and IP:
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