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C1orf86 Gene

protein-coding   GIFtS: 40
GCID: GC01M002115

Chromosome 1 Open Reading Frame 86

  See related disease
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 861 2
FAAP202 5
FP71622
Fanconi Anemia-Associated Protein Of 20 KDa2

External Ids:    HGNC: 264281   Entrez Gene: 1999902   Ensembl: ENSG000001625857   OMIM: 6151835   UniProtKB: Q6NZ363   

Export aliases for C1orf86 gene to outside databases

Previous GC identifers: GC01M002150 GC01M002110 GC01M001391


(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 C1orf86 Gene:
C1orf86 (chromosome 1 open reading frame 86) is a protein-coding gene. Diseases associated with C1orf86 include fanconi's anemia. GO annotations related to this gene include ubiquitin binding and K63-linked polyubiquitin binding.

UniProtKB/Swiss-Prot: FAP20_HUMAN, Q6NZ36
Function: Component of the Fanconi anemia (FA) complex required to recruit the FA complex to DNA interstrand
cross-links (ICLs) and promote ICLs repair. Following DNA damage recognizes and binds 'Lys-63'-linked ubiquitin
generated by RNF8 at ICLs and recruits other components of the FA complex. Promotes translesion synthesis via
interaction with REV1




(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_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C1orf86 gene promoter:
         NF-1/L   NF-1   RP58   AML1a   MyoD   E47   AREB6   c-Rel   HOXA5   Hand1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C1orf86

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C1orf86


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

Entrez Gene cytogenetic band: 1p36.33   Ensembl cytogenetic band:  1p36.33   HGNC cytogenetic band: 1p36.33

C1orf86 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C1orf86 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M002115:  view genomic region     (about GC identifiers)

Start:
2,115,899 bp from pter      End:
2,144,159 bp from pter
Size:
28,261 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: FAP20_HUMAN, Q6NZ36 (See protein sequence)
Recommended Name: Fanconi anemia-associated protein of 20 kDa  
Size: 180 amino acids; 19869 Da
Subunit: Component of the Fanconi anemia (FA) complex. Interacts with FANCA; interaction is direct. Interacts with
REV1. Reported to bind monoubiquitinated REV1; however it binds better to non-ubiquitinated REV1
(PubMed:22266823)
Caution: According to a report, ubiquitin-binding is dispensable for function (PubMed:22396592). However, such
data are not confirmed by PubMed:22705371
Sequence caution: Sequence=AAH66360.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A6PW39 A6PW40 A6PW41 A8MQT6 F2Z2L4 Q6ZT64 Q71M24 Q96ND7
Alternative splicing: 6 isoforms:  Q6NZ36-1   Q6NZ36-2   Q6NZ36-3   Q6NZ36-4   Q6NZ36-5   Q6NZ36-6   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for C1orf86: NX_Q6NZ36

Explore proteomics data for C1orf86 at MOPED


See C1orf86 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (9 alternative transcripts): 
NP_001139782.1  NP_001243874.1  NP_001243875.1  NP_001243876.1  NP_001269599.1  NP_001269600.1  NP_001269601.1  NP_001269602.1  
NP_872339.2  

ENSEMBL proteins: 
 ENSP00000405430   ENSP00000410450   ENSP00000383709   ENSP00000367804   ENSP00000367808  
 ENSP00000410740   ENSP00000409721   ENSP00000383710   ENSP00000367807  

C1orf86 Human Recombinant Protein Products:

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Cloud-Clone Corp. CLIAs for C1orf86


(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: Q6NZ36

UniProtKB/Swiss-Prot: FAP20_HUMAN, Q6NZ36
Domain: The UBZ-type zinc finger binds both 'Lys-48'- and 'Lys-63'-linked polyubiquitin with preference for
'Lys-63'-linked polyubiquitin
Similarity: Contains 1 UBZ-type zinc finger


(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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Molecular Function:

     UniProtKB/Swiss-Prot Summary: FAP20_HUMAN, Q6NZ36
Function: Component of the Fanconi anemia (FA) complex required to recruit the FA complex to DNA interstrand
cross-links (ICLs) and promote ICLs repair. Following DNA damage recognizes and binds 'Lys-63'-linked ubiquitin
generated by RNF8 at ICLs and recruits other components of the FA complex. Promotes translesion synthesis via
interaction with REV1

     Gene Ontology (GO): 5 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding IPI--
GO:0031593polyubiquitin binding IDA--
GO:0043130ubiquitin binding IDA--
GO:0046872metal ion binding IEA--
GO:0070530K63-linked polyubiquitin binding IDA--
     
C1orf86 for ontologies           About GeneDecksing


Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C1orf86
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miRNA
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miRTarBase miRNAs that target C1orf86:
hsa-mir-215-5p (MIRT024710), hsa-mir-192-5p (MIRT026725)

Block miRNA regulation of human, mouse, rat C1orf86 using miScript Target Protectors
5 qRT-PCR Assays for microRNAs that regulate C1orf86:
hsa-miR-550a hsa-miR-501-5p hsa-miR-586 hsa-miR-362-5p hsa-miR-3138
SwitchGear 3'UTR luciferase reporter plasmidC1orf86 3' UTR sequence
Inhib. RNA
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In Situ Assay
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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 UniProtKB/Swiss-Prot
FAP20_HUMAN, Q6NZ36: Nucleus. Chromosome. Note=Following DNA damage, recruited to DNA interstrand cross-links
(ICLs) sites by binding to ubiquitin generated by RNF8
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus5
cytosol2
mitochondrion1

Gene Ontology (GO): 5 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus IDA--
GO:0005694chromosome IDA--
GO:0005730NOT nucleolus IDA--
GO:0030054cell junction IDA--
GO:0043240Fanconi anaemia nuclear complex IDA--

C1orf86 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 C1orf86
Interactions:

    Search GeneGlobe Interaction Network for C1orf86

STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

Selected Interacting proteins for C1orf86 (ENSP000003678084) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
InteractantInteraction Details
GeneCardExternal ID(s)
FANCAENSP000003739524STRING: ENSP00000373952
FANCCENSP000002890814STRING: ENSP00000289081
FANCEENSP000002297694STRING: ENSP00000229769
REV1ENSP000002584284STRING: ENSP00000258428
C17orf70ENSP000003332834STRING: ENSP00000333283
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Gene Ontology (GO): 3 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006974cellular response to DNA damage stimulus IDA--
GO:0019985translesion synthesis IMP--
GO:0036297interstrand cross-link repair IMP--

C1orf86 for ontologies           About GeneDecksing



(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 C1orf86 (FAP20)



(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 C1orf86 gene (9 alternative transcripts): 
NM_001146310.1  NM_001256945.1  NM_001256946.1  NM_001256947.1  NM_001282670.1  NM_001282671.1  NM_001282672.1  NM_001282673.1  
NM_182533.2  

Unigene Cluster for C1orf86:

Chromosome 1 open reading frame 86
Hs.107101  [show with all ESTs]
Unigene Representative Sequence: AK128507
15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000469733(uc001aix.2) ENST00000428120 ENST00000414253(uc001aiw.2)
ENST00000400918 ENST00000497675 ENST00000378543 ENST00000378546(uc001aiy.3)
ENST00000401813 ENST00000487186 ENST00000476803 ENST00000440825 ENST00000420515
ENST00000514625 ENST00000400919(uc001aiv.2) ENST00000378545
miRNA
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5 qRT-PCR Assays for microRNAs that regulate C1orf86:
hsa-miR-550a hsa-miR-501-5p hsa-miR-586 hsa-miR-362-5p hsa-miR-3138
SwitchGear 3'UTR luciferase reporter plasmidC1orf86 3' UTR sequence
Inhib. RNA
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C1orf86
Primer
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  QuantiTect SYBR Green Assays in human, mouse, rat C1orf86
  QuantiFast Probe-based Assays in human, mouse, rat C1orf86

Additional mRNA sequence: 

AF461903.1 AF469129.1 AK054818.1 AK055593.1 AK093927.1 AK125445.1 AK126870.1 AK127994.1 
AK128507.1 BC041041.1 BC066360.1 BC078145.1 BC103992.2 NR_046424.1 NR_046425.1 NR_046426.1 
NR_046427.1 

Selected DOTS entries (see all 28):

DT.92027439  DT.100815982  DT.95367792  DT.100808988  DT.75100734  DT.91746209  DT.100815978  DT.121417854 
DT.102835694  DT.95267152  DT.75173685  DT.65285357  DT.80100272  DT.411670  DT.100677222  DT.449881 
DT.95267145  DT.314306  DT.75186308  DT.95267160  DT.121417940  DT.91706588  DT.95288073  DT.95359971 

Selected AceView cDNA sequences (see all 240):

BG765895 AK024190 CR601891 AW183539 AI911410 AA814020 BF431987 BC078145 
BM700773 CA432786 BC041041 BF224088 AI266129 AI797738 BE390819 AW451776 
BQ020003 BU542153 BX442582 BC002643 AA687836 AI281128 BX097201 AI144420 

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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C1orf86 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CGCATTAAAG
C1orf86 Expression
About this image

C1orf86 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C1orf86 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.107101
    Custom PCR Arrays for C1orf86
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1orf86

(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 C1orf86 gene from Selected species (see all 5)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia 2610002J02Rik1 , 5 RIKEN cDNA 2610002J02 gene1, 5 63.01(n)1
56.1(a)1
  4 (86.17 cM)5
675131  NM_001190445.11  NP_001177374.11 
 1552498025 


ENSEMBL Gene Tree for C1orf86 (if available)
TreeFam Gene Tree for C1orf86 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for C1orf86 gene
1 SIMAP similar gene for C1orf86 using alignment to 4 protein entries:     H7C2E6_HUMAN (see all proteins):
FAAP20

C1orf86 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 C1orf86 (see all 804)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs31235951,2
C,F,A,H--1393384(+) GGTCGC/TGCCAC 1 -- int1 ese320Minor allele frequency- T:0.17NS EA NA WA 2332
rs1395896551,2
--1393530(+) AGAGAC/TGTAAA 1 -- int10--------
rs1455268701,2
C--1393686(+) AGCCCC/TAGGTG 1 -- int10--------
rs1484347011,2
--1393706(+) GAATGC/TCAGCG 1 -- int10--------
rs582113491,2
C,F--1393711(+) CCAGCA/GCTGGG 1 -- int10--------
rs1863804561,2
--1393726(+) CTGCCA/GGCCCA 1 -- int10--------
rs2626861,2
F--1393772(+) CCCCCA/C/GGCCAG 1 -- int11MN 184
rs1834996671,2
--1393842(+) TGAGAC/TTCAAC 1 -- int10--------
rs1871165061,2
--1393844(+) AGACTC/GAACTC 1 -- int10--------
rs1918983991,2
--1393876(+) CCCAGA/GGCAGA 1 -- int10--------

HapMap Linkage Disequilibrium report for C1orf86 (2115899 - 2144159 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for C1orf86 (see all 12):    About this table    
Variant IDTypeSubtypePubMed ID
dgv62n71CNV Loss21882294
nsv470682CNV Loss18288195
nsv871701CNV Loss21882294
dgv63n71CNV Loss21882294
dgv60n71CNV Loss21882294
nsv871399CNV Loss21882294
dgv56n71CNV Loss21882294
dgv61n71CNV Loss21882294
nsv834557CNV Loss17160897
dgv59n71CNV Loss21882294

Site Specific Mutation Identification with 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.)
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OMIM gene information: 615183    OMIM disorders: --

1 disease for C1orf86:    About MalaCards
fanconi's anemia


C1orf86 for disorders           About GeneDecksing


Export disorders for C1orf86 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 C1orf86 gene, integrated from 10 sources (see all 16):
(articles sorted by number of sources associating them with C1orf86)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2, 3 Ota T.... Sugano S. (Nat. Genet. 2004)
  2. Fanconi anemia (FA) binding protein FAAP20 stabilizes FA complementation group A (FANCA) and participates in interstrand cross- link repair. (PubMed id 22396592)1, 2 Leung J.W.... Chen J. (Proc. Natl. Acad. Sci. U.S.A. 2012)
  3. A ubiquitin-binding protein, FAAP20, links RNF8-mediated ubiquitination to the Fanconi anemia DNA repair network. (PubMed id 22705371)1, 2 Yan Z.... Wang W. (Mol. Cell 2012)
  4. Regulation of Rev1 by the Fanconi anemia core complex. (PubMed id 22266823)1, 2 Kim H.... D'Andrea A.D. (Nat. Struct. Mol. Biol. 2012)
  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. FAAP20: a novel ubiquitin-binding FA nuclear core-complex protein required for functional integrity of the FA-BRCA DNA repair pathway. (PubMed id 22343915)2 Ali A.M.... Meetei A.R. (Blood 2012)
  7. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)
  8. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
  9. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)
  10. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)2 Wan D....Gu J. (Proc. Natl. Acad. Sci. U.S.A. 2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
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PubMed
OMIM
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: 199990 HGNC: 26428 AceView: FLJ31031 Ensembl:ENSG00000162585 euGenes: HUgn199990
ECgene: C1orf86 H-InvDB: C1orf86

(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 C1orf86 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 C1orf86 gene:
Search GeneIP for patents involving C1orf86

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



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Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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