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C1orf111 Gene

protein-coding   GIFtS: 39
GCID: GC01M162343

Chromosome 1 Open Reading Frame 111

  Search for C1orf111
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 1111 2
Uncharacterized Protein C1orf1112

External Ids:    HGNC: 276481   Entrez Gene: 2846802   Ensembl: ENSG000001717227   UniProtKB: Q5T0L33   

Export aliases for C1orf111 gene to outside databases

Previous GC identifers: GC01M159076 GC01M160610 GC01M133588


(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 C1orf111 Gene:
C1orf111 (chromosome 1 open reading frame 111) 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:
NC_000001.11  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C1orf111 gene promoter:
         AML1a   MyoD   HNF-3beta   AP-2gamma   C/EBPalpha   GATA-1   CREB   deltaCREB   POU2F1a   NF-kappaB1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C1orf111

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C1orf111


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

Entrez Gene cytogenetic band: 1q23.3   Ensembl cytogenetic band:  1q23.3   HGNC cytogenetic band: 1q23.3

C1orf111 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C1orf111 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M162343:  view genomic region     (about GC identifiers)

Start:
162,342,993 bp from pter      End:
162,346,660 bp from pter
Size:
3,668 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, 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: CA111_HUMAN, Q5T0L3 (See protein sequence)
Recommended Name: Uncharacterized protein C1orf111  
Size: 261 amino acids; 29150 Da
Sequence caution: Sequence=AAP20051.1; Type=Frameshift; Positions=224;
Secondary accessions: Q6X961 Q8NEC3

Explore the universe of human proteins at neXtProt for C1orf111: NX_Q5T0L3

Explore proteomics data for C1orf111 at MOPED


See C1orf111 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_872387.2  
ENSEMBL proteins: 
 ENSP00000356912   ENSP00000476996  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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ProtoNet protein and cluster: Q5T0L3


(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:
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miRNA
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miRTarBase miRNAs that target C1orf111:
hsa-mir-106b-5p (MIRT020439)

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hsa-miR-4324
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(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
extracellular2
cytosol1
lysosome1
mitochondrion1
nucleus1

(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 C1orf111
Interactions:

    Search GeneGlobe Interaction Network for C1orf111

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

1 Interacting protein for C1orf111 (Q5T0L33 ENSP000003569124) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
CCDC85BQ158343, ENSP000003116954I2D: score=3 STRING: ENSP00000311695
About this table

(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 C1orf111 (CA111)



(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 C1orf111 gene: 
NM_182581.3  

Unigene Cluster for C1orf111:

Chromosome 1 open reading frame 111
Hs.97784  [show with all ESTs]
Unigene Representative Sequence: NM_182581
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000367935(uc001gbx.2) ENST00000493255
miRNA
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hsa-miR-4324
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Inhib. RNA
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  QuantiFast Probe-based Assays in human, mouse, rat C1orf111

Additional mRNA sequence: 

AY248900.1 BC032957.1 

1 DOTS entry:

DT.95366314 

23 AceView cDNA sequences:

AA401561 AW139193 NM_182581 AI216669 AI684911 AI066509 AA400306 BC032957 
BI022042 AA442277 AI217975 BX095803 BG721958 BI825359 AA431569 BI828899 
AA431567 AY248900 AA437214 AA401664 AI188151 AI015910 AA747740 

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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C1orf111 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
C1orf111 Expression
About this image


C1orf111 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 
 Testis (Reproductive System)
         Mature Sertoli Cells Seminiferous Tubules
C1orf111 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C1orf111 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.97784
    Custom PCR Arrays for C1orf111
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1orf111

(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 human and mouse.

Orthologs for C1orf111 gene from Selected species (see all 7)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia 1700015E13Rik1 , 5 RIKEN cDNA 1700015E13 gene1, 5 85.22(n)1
80.79(a)1
  1 (76.84 cM)5
769251  NM_001039593.11  NP_001034682.11 
 1703088035 


ENSEMBL Gene Tree for C1orf111 (if available)
TreeFam Gene Tree for C1orf111 (if available)

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

(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 C1orf111 (see all 137)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1458090521,2
C--162343046(+) TCAGAC/TGGACC 1 -- ds50010--------
rs75542731,2
C,F,H--162343069(+) CAGAAA/GTGGAG 1 -- ds50016Minor allele frequency- G:0.02NS EA NA 658
rs1807952381,2
--162343080(+) GCAGAA/GTCAGG 1 -- ds50010--------
rs1116172871,2
C--162343123(+) AAGCAA/GTAGGT 1 -- ds50012Minor allele frequency- G:0.08CSA WA 120
rs1488531981,2
C--162343154(+) TTTCAC/TCTGGC 1 -- ds50010--------
rs1838899951,2
--162343180(+) AAAGAC/TGTCTC 1 -- ds50010--------
rs743979211,2
C--162343181(+) AAGACA/GTCTCC 1 -- ds50010--------
rs1479872201,2
--162343203(+) TGATTA/CTATTC 1 -- ds50010--------
rs1905151231,2
--162343208(+) CTATTC/TTGCCC 1 -- ds50010--------
rs1419294011,2
C--162343269(+) GTCCCA/GGGTGA 1 -- ds50010--------

HapMap Linkage Disequilibrium report for C1orf111 (162342993 - 162346660 bp)

Structural Variations
     Database of Genomic Variants (DGV) 6 variations for C1orf111:    About this table    
Variant IDTypeSubtypePubMed ID
dgv399n71CNV Gain21882294
nsv818511CNV Gain17921354
esv34209CNV Gain17911159
nsv516482CNV Gain+Loss19592680
essv5883CNV CNV17122850
dgv141e1CNV Complex17122850

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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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  --

(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 C1orf111 gene integrated from 10 sources:
(articles sorted by number of sources associating them with C1orf111)
    Utopia: connect your pdf to the dynamic
world of online information

  1. 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)
  2. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
  3. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
  4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)
  5. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (Nature 2005)
  6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 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: 284680 HGNC: 27648 AceView: LOC284680 Ensembl:ENSG00000171722 euGenes: HUgn284680
ECgene: C1orf111 H-InvDB: C1orf111

(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 C1orf111 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 C1orf111 gene:
Search GeneIP for patents involving C1orf111

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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Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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