C1orf86 Gene
protein-coding GIFtS: 39
GCID: GC01M002115
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|
chromosome 1 open reading frame 86
| |
Aliases
for C1orf86 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Chromosome 1 Open Reading Frame 861 2 | | FLJ310311 | | FAAP202 | | FP71622 | | Fanconi Anemia-Associated Protein Of 20 KDa2 |
Export aliases for C1orf86 gene to outside databasesPrevious GC identifers: GC01M002150 GC01M002110 GC01M001391 |
Summaries
for C1orf86 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: FAP20_HUMAN, Q6NZ36Function: Component of the Fanconi anemia (FA) complex required to recruit the FA complex to DNA interstrandcross-links (ICLs) and promote ICLs repair. Following DNA damage recognizes and binds 'Lys-63'-linked ubiquitingenerated by RNF8 at ICLs and recruits other components of the FA complex. Promotes translesion synthesis viainteraction with REV1
|
Genomic Views
for C1orf86 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_004350.19
Regulatory elements:
 SABiosciences 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
Search SABiosciences Chromatin IP Primers for C1orf86
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 1p36.33C1orf86 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01M002115: view genomic region
(about GC identifiers)
Start:
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2,115,899 bp from pter |
End:
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2,144,159 bp from pter |
Size:
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28,261 bases |
Orientation:
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minus strand |
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Proteins
for C1orf86 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
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 withREV1. Reported to bind monoubiquitinated REV1; however it binds better to non-ubiquitinated REV1 (PubMed:22266823)
Subcellular location: Nucleus. Chromosome. Note=Following DNA damage, recruited to DNA interstrand cross-links (ICLs)sites by binding to ubiquitin generated by RNF8
Caution: According to a report, ubiquitin-binding is dispensable for function (PubMed:22396592). However, such data arenot confirmed by PubMed:22705371
Sequence caution: Sequence=AAH66360.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A6PW39 A6PW40 A6PW41 F2Z2L4 Q6ZT64 Q71M24 Q96ND7Alternative splicing: 5 isoforms: Q6NZ36-1 Q6NZ36-2 Q6NZ36-3 Q6NZ36-4 Q6NZ36-5 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for C1orf86: NX_Q6NZ36
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q6NZ36
C1orf86 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (5 alternative transcripts):
NP_001139782.1 NP_001243874.1 NP_001243875.1 NP_001243876.1 NP_872339.2
ENSEMBL proteins: ENSP00000405430 ENSP00000410450 ENSP00000383709 ENSP00000367804 ENSP00000367808 ENSP00000410740 ENSP00000409721 ENSP00000383710 ENSP00000367807
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0043240 | Fanconi anaemia nuclear complex |
IDA | -- | | GO:0044427 | chromosomal part |
IDA | -- |
C1orf86 for ontologies About GeneDecksing
C1orf86 Antibody Products:
Assay Products for C1orf86: |
Protein
Domains /
Families
for C1orf86 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: Q6NZ36 UniProtKB/Swiss-Prot: FAP20_HUMAN, Q6NZ36Domain: The UBZ-type zinc finger binds both 'Lys-48'- and 'Lys-63'-linked polyubiquitin with preference for'Lys-63'-linked polyubiquitinSimilarity: Contains 1 UBZ-type zinc finger |
Function
for C1orf86 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: FAP20_HUMAN, Q6NZ36Function: Component of the Fanconi anemia (FA) complex required to recruit the FA complex to DNA interstrandcross-links (ICLs) and promote ICLs repair. Following DNA damage recognizes and binds 'Lys-63'-linked ubiquitingenerated by RNF8 at ICLs and recruits other components of the FA complex. Promotes translesion synthesis viainteraction with REV1
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C1orf86 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C1orf86 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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Synthesis Service for C1orf86 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C1orf86 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1orf86 |
Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table
C1orf86 for ontologies About GeneDecksing
|
Pathways & Interactions
for C1orf86 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C1orf86
STRING Interaction
Network Preview (showing 5 interactants - click image to see 14)
5/14 Interacting proteins for C1orf86 (ENSP000003678084) via UniProtKB, MINT, STRING, and/or I2D (see all 14)About this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006974 | response to DNA damage stimulus |
IDA | -- | | GO:0019985 | translesion synthesis |
IMP | -- | | GO:0036297 | interstrand cross-link repair |
IMP | -- |
C1orf86 for ontologies About GeneDecksing
|
Drugs & Compounds
for C1orf86 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for C1orf86
Search CenterWatch for drugs/clinical trials and news about C1orf86 / FAP20
|
Transcripts
for C1orf86 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for C1orf86 gene (5 alternative transcripts): NM_001146310.1 NM_001256945.1 NM_001256946.1 NM_001256947.1 NM_182533.2 Unigene Cluster for C1orf86: Chromosome 1 open reading frame 86 Hs.107101 [show with all ESTs]Unigene Representative Sequence: AK12850715 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000469733(uc001aix.2) ENST00000428120 ENST00000414253(uc001aiw.2)
ENST00000400918 ENST00000378543 ENST00000378546(uc001aiy.3) ENST00000401813
ENST00000487186 ENST00000476803 ENST00000440825 ENST00000420515 ENST00000497675
ENST00000514625 ENST00000400919(uc001aiv.2) ENST00000378545
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C1orf86 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C1orf86 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): C1orf86 (NM_182533) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for C1orf86 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C1orf86 |
Additional cDNA 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 24/26 DOTS entries (see all 26): DT.92027439 DT.100815982 DT.95367792 DT.75100734 DT.100808988 DT.91746209 DT.100815978 DT.121417854 DT.102835694 DT.65285357 DT.75173685 DT.80100272 DT.411670 DT.95267152 DT.100677222 DT.314306 DT.75186308 DT.95267160 DT.121417940 DT.91706588 DT.95288073 DT.95359971 DT.100815980 DT.121417950 24/240 AceView cDNA sequences (see all 240): AA814020 BG765895 AI911410 AK001208 BF431987 BC002643 BM825368 AI144420 BQ020003 CA428458 AI281128 BU072281 AW183539 BQ448266 BX097201 AW451776 AI266129 AK127994 AI797738 CR626695 BC041041 BX442582 BU542153 BE390819
GeneLoc Exon Structure
|
Expression
for C1orf86 gene
(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
| C1orf86 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CGCATTAAAG
About this image
See C1orf86 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C1orf86
SOURCE GeneReport for Unigene cluster: Hs.107101
SABiosciences Custom PCR Arrays for C1orf86
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C1orf86
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat C1orf86 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C1orf86 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C1orf86 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1orf86 |
Orthologs
for C1orf86 gene
(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 human and mouse.
Orthologs for C1orf86 gene from 1/4 species (see all 4) About this table
ENSEMBL Gene Tree for C1orf86 (if available)
TreeFam Gene Tree for C1orf86 (if available) |
Paralogs
for C1orf86 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for C1orf86 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for C1orf86 (2115899 - 2144159 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for C1orf86
2 CNVs: 4192 29812 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C1orf86 |
|
Disorders
/ Diseases
for C1orf86 gene
(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.)
About This Section
| -- |
Publications
for C1orf86 gene (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 C1orf86 gene, integrated from 9 sources (see all 15):
(articles sorted by number of sources associating them with C1orf86) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2, 3 Ota T.... Sugano S. (2004)
- A ubiquitin-binding protein, FAAP20, links RNF8-mediat ed ubiquitination to the Fanconi anemia DNA repair network. (PubMed id 22705371)1, 2 Yan Z....Wang W. (2012)
- 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. (2012)
- Regulation of Rev1 by the Fanconi anemia core complex. (PubMed id 22266823)1, 2 Kim H....D'Andrea A.D. (2012)
- 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. (2012)
- Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
- Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
- The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
- 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. (2004)
- Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (2004)
|
External Searches for C1orf86 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing C1orf86 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing C1orf86 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing C1orf86 gene(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
|
| Name | Description |
| PharmGKB entry for C1orf86 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| 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
|
Products
for C1orf86 gene(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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| |
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| |  |  |  |  | | | | |
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 | | | C1orf86 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1orf86 |
|  |  |  | | | | Search ThermoFisher Antibodies for C1orf86 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C1orf86 |
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