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C1orf123 Gene

protein-coding   GIFtS: 48
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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for C1orf123 Gene:
C1orf123 (chromosome 1 open reading frame 123) is a protein-coding 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   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 Chromatin IP Primers for C1orf123

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: 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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C1orf123 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_060357.1  
    ENSEMBL proteins: 
     ENSP00000294360  

    C1orf123 Human Recombinant Protein Products:

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    Search LSBio for Antibodies for C1orf123

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    Search eBioscience for ELISAs for C1orf123 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with C1orf123           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    Find genes that share ontologies with C1orf123           About GenesLikeMe


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

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C1orf123
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for C1orf123
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for C1orf123

    miRNA
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    miRTarBase miRNAs that target C1orf123:
    hsa-mir-30e-5p (MIRT044163)

    Block miRNA regulation of human, mouse, rat C1orf123 using miScript Target Protectors
    7 qRT-PCR 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:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat C1orf123

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    GenScript: all cDNA clones in your preferred vector: C1orf123 (NM_017887)
    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1orf123


    (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
    cytosol2
    extracellular2
    nucleus1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    Find genes that share ontologies with C1orf123           About GenesLikeMe


    (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 C1orf123
    Interactions:

        Search GeneGlobe Interaction Network for C1orf123

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    Selected Interacting proteins for C1orf123 (Q9NWV42, 3 ENSP000002943604) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    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:    About this table

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

    Find genes that share ontologies with C1orf123           About GenesLikeMe



    (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 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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
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    7 qRT-PCR 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
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    Predesigned siRNA for gene silencing in human, mouse, rat C1orf123
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    Primer
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    OriGene qPCR primer pairs and template standards for C1orf123
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat C1orf123
      QuantiTect SYBR Green Assays in human, mouse, rat C1orf123
      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 

    Selected AceView cDNA sequences (see all 219):

    BM785162 CR596024 AL602818 BG779235 AI685147 AI929048 AI632758 BQ719670 
    BI771520 AI200052 AI198520 AI184747 AW271734 AI244914 CD108893 CD515353 
    BM968653 AW139188 CF457046 BG335794 N95766 CB155598 CR623839 BM719695 

    GeneLoc Exon Structure

    Selected 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™, 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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    C1orf123 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 4) fully expand
     
     Dermis (Integumentary System)    fully expand to see all 2 entries
             Zigzag Dermal Papilla Cells Dermal Papilla
     
     Ovary (Reproductive System)
     
     Adipose (Muscoskeletal System)
     
     Uterus (Reproductive System)
    C1orf123 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C1orf123 Protein Expression

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

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1orf123

    (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 eukaryotes.

    Orthologs for C1orf123 gene from Selected species (see all 23)    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_422484.4  XP_422484.1 
    lizard
    (Anolis carolinensis)
    Reptilia C1orf1236
    chromosome 1 open reading frame 123
    85(a)
    1 ↔ 1
    4(115035359-115046181)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004973001 chromosome unknown open reading frame, human C1orf123 75(n)
    80.62(a)
      100497300  XM_002931424.2  XP_002931470.1 
    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_137004.3  NP_610848.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F46B6.121 F46B6.12 55.27(n)
    48.73(a)
      179370  NM_073120.4  NP_505521.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YCR090C)4
    YCR090C1
    Putative protein of unknown function; green fluorescent more4
    YCR090C1
    43.01(n)1
    27.1(a)1
      3(272863-272315)4
    8504521, 4  NP_010014.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G329301 AT4G32930 50.85(n)
    38.46(a)
      829430  NM_119447.4  NP_567911.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g05656001 Os01g0565600 52.69(n)
    41.94(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)
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    Paralogs for C1orf123 gene

    Find genes that share paralogs with C1orf123           About GenesLikeMe


    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), 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 C1orf123 (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

    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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      --

    (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 C1orf123 gene, integrated from 10 sources (see all 14):
    (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. (Nature 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. (Genome Res. 2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    5. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    6. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    7. 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. (Nat. Cell Biol. 2012)
    8. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    10. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 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)
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    Entrez Gene: 54987 HGNC: 26059 AceView: FLJ20580 Ensembl:ENSG00000162384 euGenes: HUgn54987
    ECgene: C1orf123 H-InvDB: C1orf123

    (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 C1orf123 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 C1orf123 gene:
    Search GeneIP for patents involving C1orf123

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



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