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C1orf87 Gene

protein-coding   GIFtS: 42
GCID: GC01M060452

Chromosome 1 Open Reading Frame 87

  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 871 2
Carcinoma-Related EF-Hand Protein1
Uncharacterized Protein C1orf872

External Ids:    HGNC: 285471   Entrez Gene: 1277952   Ensembl: ENSG000001625987   UniProtKB: Q8N0U73   

Export aliases for C1orf87 gene to outside databases

Previous GC identifers: GC01M060169 GC01M060228 GC01M058567


(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 C1orf87 Gene:
C1orf87 (chromosome 1 open reading frame 87) is a protein-coding gene. Diseases associated with C1orf87 include bipolar disorder, and breast and colorectal cancer. GO annotations related to this gene include calcium ion binding.


(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  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the C1orf87 gene promoter:
         GR   NF-1   C/EBPbeta   AML1a   ATF-2   Brachyury   LCR-F1   HFH-1   GR-alpha   Pax-4a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C1orf87

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C1orf87


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

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

C1orf87 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C1orf87 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M060452:  view genomic region     (about GC identifiers)

Start:
60,452,941 bp from pter      End:
60,539,442 bp from pter
Size:
86,502 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CA087_HUMAN, Q8N0U7 (See protein sequence)
Recommended Name: Uncharacterized protein C1orf87  
Size: 546 amino acids; 62035 Da
Secondary accessions: Q6ZU07 Q8IVS0
Alternative splicing: 3 isoforms:  Q8N0U7-1   Q8N0U7-2   Q8N0U7-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C1orf87: NX_Q8N0U7

Explore proteomics data for C1orf87 at MOPED


See C1orf87 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_689590.1  
ENSEMBL proteins: 
 ENSP00000389432   ENSP00000360244   ENSP00000378921  

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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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1 InterPro protein domain:
 IPR011992 EF-hand-dom_pair

Graphical View of Domain Structure for InterPro Entry Q8N0U7

ProtoNet protein and cluster: Q8N0U7


C1orf87 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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     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005509calcium ion binding IEA--
     
C1orf87 for ontologies           About GeneDecksing


Phenotypes:
     1 GenomeRNAi human phenotype for C1orf87:
 Decreased homologous recombina 

Animal Models:
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hsa-miR-338-5p hsa-miR-103b hsa-miR-26b* hsa-miR-3175 hsa-miR-4273
SwitchGear 3'UTR luciferase reporter plasmidC1orf87 3' UTR sequence
Inhib. RNA
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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
nucleus3
cytosol2

(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 C1orf87
Interactions:

    Search GeneGlobe Interaction Network for C1orf87

(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 C1orf87 (CA087)



(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,
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 C1orf87 gene: 
NM_152377.2  

Unigene Cluster for C1orf87:

Chromosome 1 open reading frame 87
Hs.47385  [show with all ESTs]
Unigene Representative Sequence: AK126061
6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000486478(uc001czr.1) ENST00000450089 ENST00000371201(uc001czs.2)
ENST00000488027 ENST00000491817 ENST00000395552
miRNA
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hsa-miR-338-5p hsa-miR-103b hsa-miR-26b* hsa-miR-3175 hsa-miR-4273
SwitchGear 3'UTR luciferase reporter plasmidC1orf87 3' UTR sequence
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Additional mRNA sequence: 

AK124828.1 AK126061.1 BC027878.1 BC042203.1 

3 DOTS entries:

DT.100018888  DT.95099476  DT.101959590 

24 AceView cDNA sequences:

BC027878 BU608239 AK124828 AI858998 NM_152377 BC042203 AK126061 BM543642 
BI768799 BI523716 AA906694 AA719014 BI831261 BU567483 AA446167 AA889253 
BU570377 AA889241 AI015082 N51972 CD703175 CD707889 BG220691 N53805 

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for C1orf87    About this scheme

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14a · 14b · 14c · 14d ^ 15 ^ 16
SP1:                                                        -           -     -     -                                                   
SP2:                                                                                                                                    
SP3:                                                                    -     -     -                                                   
SP4:                          -     -     -     -                                                                                       
SP5:                                                                                -                                                   


ECgene alternative splicing isoforms for C1orf87

(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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C1orf87 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TTTCTCCCCA
C1orf87 Expression
About this image


C1orf87 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 3) fully expand
 
 Ovary (Reproductive System)
         Oviduct
 
 Testis (Reproductive System)
         Spermatid Seminiferous Tubules
 
 Gonad
         Spermatid Seminiferous Tubules
C1orf87 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C1orf87 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.47385
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In Situ
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1orf87

(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 C1orf87 gene from Selected species (see all 6)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Gm126951 , 5 predicted gene 126951, 5 75.87(n)1
64.64(a)1
  4 (44.79 cM)5
6207791  NM_001081284.11  NP_001074753.11 
 967236475 


ENSEMBL Gene Tree for C1orf87 (if available)
TreeFam Gene Tree for C1orf87 (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 C1orf87 (see all 1694)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0354934
A breast cancer sample4--see VAR_0354932 Q E mis40--------
rs1865857531,2
C--60455608(+) AAGAAA/CTATGG 1 -- int10--------
rs1908454701,2
--60455666(+) GGATGC/TTACCT 1 -- int10--------
rs1161601231,2
F--60455682(+) CAAAAC/AGCTTT 1 -- int11Minor allele frequency- A:0.03WA 118
rs175005161,2
C,F--60455683(+) AAAACG/ACTTTG 1 -- int16Minor allele frequency- A:0.06NA EA 384
rs789151981,2
C,F--60455705(+) CCTTCC/TTCAAA 1 -- int11Minor allele frequency- T:0.05EA 120
rs1823320991,2
--60455784(+) AAAATA/GTTGGA 1 -- int10--------
rs1866431331,2
--60455789(+) ATTGGA/CCTTGT 1 -- int10--------
rs104932751,2
C,F,H--60455797(+) TGTTCA/GGAAAA 1 -- int1101Minor allele frequency- G:0.14NS EA NA PA EU CA WA CSA 6300
rs1447999891,2
--60455858(+) TAATAC/TTTTTA 1 -- int10--------

HapMap Linkage Disequilibrium report for C1orf87 (60452941 - 60539442 bp)

Structural Variations
     Database of Genomic Variants (DGV) 5 variations for C1orf87:    About this table    
Variant IDTypeSubtypePubMed ID
esv2675852CNV Deletion23128226
esv1587281CNV Insertion17803354
esv271154CNV Insertion20981092
esv259709OTHER Complex20981092
esv259663OTHER Complex20981092

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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.)
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5 diseases for C1orf87:    
About MalaCards
bipolar disorder    breast and colorectal cancer    rheumatoid arthritis    arthritis
colorectal cancer


C1orf87 for disorders           About GeneDecksing

Genetic Association Database (GAD): C1orf87

Export disorders for C1orf87 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 C1orf87 gene, integrated from 10 sources (see all 16):
(articles sorted by number of sources associating them with C1orf87)
    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. Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis. (PubMed id 22491018)4 Wang J....Platt A. (Pharmacogenomics J. 2013)
  3. Genome-wide association study of chronic periodontitis in a general German population. (PubMed id 24024966)1 Teumer A....Kocher T. (J. Clin. Periodontol. 2013)
  4. Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. (PubMed id 21829377)4 Lemaitre R.N....Steffen L.M. (PLoS Genet. 2011)
  5. Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder. (PubMed id 21254220)4 Jiang Y. and Zhang H. (Genet. Epidemiol. 2011)
  6. Genome-wide association of bipolar disorder suggests an enrichment of replicable associations in regions near genes. (PubMed id 21738484)4 Smith E.N....Kelsoe J.R. (PLoS Genet. 2011)
  7. 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)
  8. Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry. (PubMed id 19416921)4 Scott L.J....Boehnke M. (Proc. Natl. Acad. Sci. U.S.A. 2009)
  9. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (BMC Med. Genet. 2007)
  10. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PubMed id 17903300)4 Fox C.S....Atwood L.D. (BMC Med. Genet. 2007)

(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: 127795 HGNC: 28547 AceView: MGC34837 Ensembl:ENSG00000162598 euGenes: HUgn127795
ECgene: C1orf87 H-InvDB: C1orf87

(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 C1orf87 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 C1orf87 gene:
Search GeneIP for patents involving C1orf87

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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