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C1orf101 Gene

protein-coding   GIFtS: 40
GCID: GC01P244618

Chromosome 1 Open Reading Frame 101

  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 1011 2
Uncharacterized Protein C1orf1012

External Ids:    HGNC: 284911   Entrez Gene: 2570442   Ensembl: ENSG000001793977   UniProtKB: Q5SY803   

Export aliases for C1orf101 gene to outside databases

Previous GC identifers: GC01P240951 GC01P242691 GC01P215007


(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 C1orf101 Gene:
C1orf101 (chromosome 1 open reading frame 101) is a protein-coding gene. Diseases associated with C1orf101 include breast and colorectal cancer, and colorectal cancer. An important paralog of this gene is CATSPERD.


(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  NT_167186.2  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C1orf101 gene promoter:
         USF1   Pax-5   NRSF form 1   USF2   CUTL1   NRSF form 2   Roaz   FOXC1   STAT3   IRF-7A   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C1orf101

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C1orf101


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

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

C1orf101 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C1orf101 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P244618:  view genomic region     (about GC identifiers)

Start:
244,617,679 bp from pter      End:
244,804,479 bp from pter
Size:
186,801 bases      Orientation:
plus 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: CA101_HUMAN, Q5SY80 (See protein sequence)
Recommended Name: Uncharacterized protein C1orf101 precursor  
Size: 951 amino acids; 109662 Da
Sequence caution: Sequence=BC028392; Type=Frameshift; Positions=418;
Secondary accessions: B4DZR4 B7Z7X5 E9PEA3 Q8IYZ6
Alternative splicing: 3 isoforms:  Q5SY80-1   Q5SY80-2   Q5SY80-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C1orf101: NX_Q5SY80

Explore proteomics data for C1orf101 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn61, Asn114, Asn472, Asn535
  • Modification sites at PhosphoSitePlus

  • See C1orf101 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001124429.1  NP_001229269.1  NP_776168.1  

    ENSEMBL proteins: 
     ENSP00000355492   ENSP00000355491   ENSP00000395796   ENSP00000355489  

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    Cloud-Clone Corp. CLIAs for C1orf101


    (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:
     IPR028751 CATSPERD

    Graphical View of Domain Structure for InterPro Entry Q5SY80

    ProtoNet protein and cluster: Q5SY80


    C1orf101 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,
    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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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C1orf101
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1orf101


    (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 UniProtKB/Swiss-Prot
    CA101_HUMAN, Q5SY80: Membrane; Single-pass type I membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    endoplasmic reticulum1
    extracellular1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane ----
    GO:0036128CatSper complex IEA--

    C1orf101 for ontologies           About GeneDecksing


    (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 C1orf101
    Interactions:

        Search GeneGlobe Interaction Network for C1orf101

    (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 C1orf101 (CA101)



    (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 C1orf101 gene (3 alternative transcripts): 
    NM_001130957.1  NM_001242340.1  NM_173807.4  

    Unigene Cluster for C1orf101:

    Chromosome 1 open reading frame 101
    Hs.459534  [show with all ESTs]
    Unigene Representative Sequence: NM_001130957
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000473875(uc001iak.1) ENST00000460986 ENST00000366534(uc001iam.3 uc001ial.3 uc010pym.2 uc010pyn.2)
    ENST00000366533 ENST00000478554 ENST00000428042 ENST00000464170 ENST00000485888
    ENST00000487449 ENST00000366531
    miRNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat C1orf101
      QuantiFast Probe-based Assays in human, mouse, rat C1orf101

    Additional mRNA sequence: 

    AK027205.1 AK302609.1 AK303059.1 BC028392.1 BC032859.1 BX648685.1 

    7 DOTS entries:

    DT.97808680  DT.92068038  DT.121461416  DT.121461329  DT.121461365  DT.121461389  DT.92433371 

    Selected AceView cDNA sequences (see all 69):

    AL040701 BG215227 BG217357 AI139906 AL040702 BG718721 BG186653 BX648685 
    BG185025 AI018394 BC028392 BG192906 BG721654 NM_173807 BG723307 BC032859 
    BG199002 AI074640 BG191330 BG218911 BG214655 BG190855 BI463473 BI460911 

    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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    C1orf101 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAAAATAAA
    C1orf101 Expression
    About this image

    C1orf101 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C1orf101 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.459534
        Custom PCR Arrays for C1orf101
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1orf101

    (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 C1orf101 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gm70685
    LOC1026323861
    predicted gene 70685
    uncharacterized LOC1026323861
    65.37(n)1
    52.75(a)1
      1 (82.82 cM)5
    1026323861  XM_006497088.11  XP_006497151.11 
     1778084755 
    chicken
    (Gallus gallus)
    Aves C3H1orf1011 chromosome 3 open reading frame, human C1orf101 51.84(n)
    38.51(a)
      421495  XM_419542.4  XP_419542.4 
    lizard
    (Anolis carolinensis)
    Reptilia C1orf1016
    chromosome 1 open reading frame 101
    35(a)
    1 ↔ 1
    GL343285.1(999328-1162157)


    ENSEMBL Gene Tree for C1orf101 (if available)
    TreeFam Gene Tree for C1orf101 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for C1orf101 gene
    CATSPERD2  

    C1orf101 for paralogs           About GeneDecksing



    (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 C1orf101 (see all 3954)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0354944
    A breast cancer sample4--see VAR_0354942 T I mis40--------
    rs1136159381,2
    C--215031765(+) TTTTCT/-TTTTT 3 -- int11Minor allele frequency- -:0.50CSA 2
    rs2005202021,2
    C--215032277(+) TTTTG-/TTTTTT 3 -- int10--------
    rs125656551,2
    C,H--215032286(+) tttttG/Tttttt 3 -- int10--------
    rs752868801,2
    C--215032287(+) TTTTGG/TTTTTT 3 -- int10--------
    rs30059481,2
    C,F--215078775(+) TTTCAC/TCCCCA 3 -- int12Minor allele frequency- T:0.50WA CSA 4
    rs30059491,2
    C,F--215078777(+) TCATCC/TCCAAT 3 -- int12Minor allele frequency- T:0.50WA CSA 4
    rs584374801,2
    C--215093841(+) ATTTT-/C/TCACAG 3 -- int11NA 2
    rs1121950151,2
    C--215128968(+) TTTTCT/-TTTTT 3 -- int11Minor allele frequency- -:0.00CSA 2
    rs671531151,2
    C--215128969(+) TTTCT-/T/TT  
            
    TTTTT
    3 -- int11NA 2

    HapMap Linkage Disequilibrium report for C1orf101 (244617679 - 244804479 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for C1orf101 (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2726662CNV Deletion23290073
    esv2659474CNV Deletion23128226
    esv2107521CNV Deletion18987734
    esv992950CNV Deletion20482838
    esv2639096CNV Deletion19546169
    esv2726673CNV Deletion23290073
    esv1291880CNV Deletion17803354
    esv2726640CNV Deletion23290073
    esv2726651CNV Deletion23290073
    esv1134718CNV Deletion17803354

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    (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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    2 diseases for C1orf101:    
    About MalaCards
    breast and colorectal cancer    colorectal cancer


    C1orf101 for disorders           About GeneDecksing

    Genetic Association Database (GAD): C1orf101
    Human Genome Epidemiology (HuGE) Navigator: C1orf101 (1 document)

    Export disorders for C1orf101 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 C1orf101 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with C1orf101)
        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. 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)
    4. 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)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (Science 2006)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (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: 257044 HGNC: 28491 AceView: MGC33370 Ensembl:ENSG00000179397 euGenes: HUgn257044
    ECgene: C1orf101 H-InvDB: C1orf101

    (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 C1orf101 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 C1orf101 gene:
    Search GeneIP for patents involving C1orf101

    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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