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

C1orf100 Gene

protein-coding   GIFtS: 36
GCID: GC01P244515

Chromosome 1 Open Reading Frame 100

  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)
About This Section

Aliases
Chromosome 1 Open Reading Frame 1001 2
Uncharacterized Protein C1orf1002

External Ids:    HGNC: 304351   Entrez Gene: 2001592   Ensembl: ENSG000001737287   UniProtKB: Q5SVJ33   

Export aliases for C1orf100 gene to outside databases

Previous GC identifers: GC01P240694 GC01P242582 GC01P214899


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

GeneCards Summary for C1orf100 Gene: 
C1orf100 (chromosome 1 open reading frame 100) is a protein-coding gene. Diseases associated with C1orf100 include microcephaly, and asthma.


(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_167186.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C1orf100 gene promoter:
         HOXA9B   HOXA9   MAZR   ATF-2   MyoD   S8   Cart-1   Msx-1   Meis-1a   Meis-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C1orf100

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C1orf100


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

Entrez Gene cytogenetic band: 1q44   Ensembl cytogenetic band:  1q44   HGNC cytogenetic band: 1q44

C1orf100 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C1orf100 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P244515:  view genomic region     (about GC identifiers)

Start:
244,515,937 bp from pter      End:
244,552,965 bp from pter
Size:
37,029 bases      Orientation:
plus 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: CA100_HUMAN, Q5SVJ3 (See protein sequence)
Recommended Name: Uncharacterized protein C1orf100  
Size: 147 amino acids; 17617 Da
Secondary accessions: Q5SVJ4
Alternative splicing: 2 isoforms:  Q5SVJ3-1   Q5SVJ3-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C1orf100: NX_Q5SVJ3

Explore proteomics data for C1orf100 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5SVJ3

  • C1orf100 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C1orf100 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001012988.1  NP_001263277.1  NP_001263278.1  

    ENSEMBL proteins: 
     ENSP00000355495   ENSP00000311218  

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

    ProtoNet protein and cluster: Q5SVJ3


    (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

    Animal Models:
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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 C1orf100

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for C1orf100 (ENSP000003112184) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    --ENSP000003837324STRING: ENSP00000383732
    About this table

    (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 C1orf100 (CA100)

    Search CenterWatch for drugs/clinical trials and news about C1orf100 / CA100

    (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,
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    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 C1orf100 gene (3 alternative transcripts): 
    NM_001012970.2  NM_001276348.1  NM_001276349.1  

    Unigene Cluster for C1orf100:

    Chromosome 1 open reading frame 100
    Hs.442703  [show with all ESTs]
    Unigene Representative Sequence: BU570907
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000366537(uc001iai.3) ENST00000308105(uc001iah.3) ENST00000486803
    ENST00000470211
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    Additional mRNA sequence: BC054479.1 

    4 DOTS entries:

    DT.100738062  DT.405585  DT.100668237  DT.121461407 

    9 AceView cDNA sequences:

    BC054479 AA913846 AA927131 BX099227 AA759233 AA909991 AI122828 AA723747 
    CD299903 

    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™, 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

    C1orf100 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTATAAAGAA
    C1orf100 Expression
    About this image


    See C1orf100 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C1orf100

    SOURCE GeneReport for Unigene cluster: Hs.442703
        SABiosciences Custom PCR Arrays for C1orf100
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1orf100

    (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 C1orf100 gene from 2/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 1700016C15Rik1 , 5 RIKEN cDNA 1700016C15 gene1, 5 78.7(n)1
    68.75(a)1
      1 (82.80 cM)5
    694281  NM_027077.21  NP_081353.11 
     1777298145 
    chicken
    (Gallus gallus)
    Aves C1ORF1006
    Uncharacterized protein
    19(a)
    1 ↔ 1
    3(34138368-34143379)


    ENSEMBL Gene Tree for C1orf100 (if available)
    TreeFam Gene Tree for C1orf100 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C1orf100 gene

    C1orf100 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for C1orf100
    PGOHUM00000238023


    (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

    10/1020 SNPs in C1orf100 are shown (see all 1020)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs346984011,2
    C--214907300(+) ACACA-/TGCATGC 3 -- int10--------
    rs2015158701,2
    C--244514213(+) AAGCT-/CCCCCC 3 -- us2k10--------
    rs1907115371,2
    --244514220(+) CCCCAC/TGGAGC 3 -- us2k10--------
    rs1826207701,2
    --244514288(+) CCTTTA/GCCTAC 3 -- us2k10--------
    rs1415259171,2
    --244514301(+) AAATCC/TTATAA 3 -- us2k10--------
    rs1138232871,2
    C,F--244514318(+) CTCACC/TCCTAT 3 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs731259381,2
    C,F--244514350(+) TTCGGA/GCTCAG 3 -- us2k11Minor allele frequency- G:0.02WA 118
    rs731259411,2
    C,F--244514352(+) CGGACT/CCAGAC 3 -- us2k11Minor allele frequency- C:0.02WA 118
    rs1380621851,2
    --244514357(+) TCAGAC/TGGCCT 3 -- us2k10--------
    rs1878417341,2
    --244514402(+) CAAAGC/GCTGTT 3 -- us2k10--------

    HapMap Linkage Disequilibrium report for C1orf100 (244515937 - 244552965 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for C1orf100:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv24742CNV Gain19812545
    nsv833115CNV Gain17160897
    nsv516557CNV Gain19592680

    SABiosciences Cancer Mutation PCR Assays
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    (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
    2 diseases for C1orf100:    About MalaCards
    microcephaly    asthma


    C1orf100 for disorders           About GeneDecksing

    Genetic Association Database (GAD): C1orf100

    Export disorders for C1orf100 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 C1orf100 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C1orf100)
        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. Genome-wide association study of the age of onset of c hildhood asthma. (PubMed id 22560479)1 Forno E....Celedon J.C. (2012)
    4. Genome-wide meta-analyses of smoking behaviors in Afri can Americans. (PubMed id 22832964)1 David S.P....Furberg H. (2012)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (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: 200159 HGNC: 30435 AceView: LOC200159 Ensembl:ENSG00000173728 euGenes: HUgn200159
    ECgene: C1orf100 H-InvDB: C1orf100

    (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 C1orf100 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 C1orf100 gene:
    Search GeneIP for patents involving C1orf100

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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     Browse SwitchGear 3'UTR luciferase reporter plasmids for C1orf100
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     ThermoFisher Antibodies for C1orf100
     Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat C1orf100
     inGenious Targeting Laboratory - Custom generated mouse model solutions for C1orf100
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for C1orf100
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     Search LSBio for Antibodies for C1orf100
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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