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C9orf69 Gene

protein-coding   GIFtS: 31
GCID: GC09M139006

Chromosome 9 Open Reading Frame 69

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(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 9 Open Reading Frame 691 2
Herpes Virus UL25-Binding Protein2 3
bA83N9.12
Protein C9orf692

External Ids:    HGNC: 310091   Entrez Gene: 901202   Ensembl: ENSG000002382277   UniProtKB: H0YL143   

Export aliases for C9orf69 gene to outside databases

Previous GC identifers: GC09U900585 GC09M138147 GC09M108469


(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 C9orf69 Gene:
C9orf69 (chromosome 9 open reading frame 69) is a protein-coding gene. GO annotations related to this gene include GTP binding.

UniProtKB/Swiss-Prot: CI069_HUMAN, H0YL14
Function: Plays a role in cell proliferation by promoting progression into S phase. Promotes human herpesvirus 1
(HHV-1) proliferation




(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 at NCBI GenBank:
NC_000009.11  NT_008470.20  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C9orf69 gene promoter:
         C/EBPbeta   Olf-1   C/EBPalpha   GATA-1   CREB   E2F   E2F-1   Zic1   FOXJ2 (long isoform)   FOXJ2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C9orf69

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C9orf69


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

Entrez Gene cytogenetic band: 9q34.3   Ensembl cytogenetic band:  9q34.3   HGNC cytogenetic band: 9q34.3

C9orf69 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C9orf69 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M139006:  view genomic region     (about GC identifiers)

Start:
139,006,427 bp from pter      End:
139,010,731 bp from pter
Size:
4,305 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for C9orf69

(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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CI069_HUMAN, H0YL14 (See protein sequence)
Recommended Name: Protein C9orf69  
Size: 139 amino acids; 16083 Da
Subunit: Interacts with HHV-1 protein UL25; this interaction occurs in the course of a HHV-1 infection

Explore the universe of human proteins at neXtProt for C9orf69: NX_H0YL14

REFSEQ proteins (2 alternative transcripts): 
NP_001243455.1  NP_690046.3  

ENSEMBL proteins: 
 ENSP00000453019   ENSP00000457272   ENSP00000455849   ENSP00000458020   ENSP00000452750  

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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:
 IPR000038 Cell_div_GTP-bd

Graphical View of Domain Structure for InterPro Entry H0YL14

ProtoNet protein and cluster: H0YL14


Find genes that share domains with C9orf69           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: CI069_HUMAN, H0YL14
Function: Plays a role in cell proliferation by promoting progression into S phase. Promotes human herpesvirus 1
(HHV-1) proliferation
Induction: Up-regulated upon HHV-1 infection

     Gene Ontology (GO): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding IPI--
GO:0005525GTP binding IEA--
     
Find genes that share ontologies with C9orf69           About GenesLikeMe


Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for C9orf69

miRNA
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Selected qRT-PCR Assays for microRNAs that regulate C9orf69 (see all 38):
hsa-miR-15a hsa-miR-29a hsa-miR-301a hsa-miR-449a hsa-miR-1184 hsa-miR-424 hsa-miR-155 hsa-miR-130b
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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
CI069_HUMAN, H0YL14: Membrane; Multi-pass membrane protein (Potential). Nucleus. Cytoplasm. Note=Upon HHV-1
infection, accumulates arround the nuclear membrane and translocates into the nucleus

Gene Ontology (GO): 3 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus IDA--
GO:0005737cytoplasm IDA--
GO:0016021integral component of membrane IEA--

Find genes that share ontologies with C9orf69           About GenesLikeMe


(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 C9orf69
Interactions:

    Search GeneGlobe Interaction Network for C9orf69

1 Interacting protein for C9orf69 (H0YL141) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
UL25D3YP881EBI-6399705,EBI-6449813
About this table

Gene Ontology (GO): 5 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0007049cell cycle IEA--
GO:0008284positive regulation of cell proliferation IDA--
GO:0016032viral process IEA--
GO:0019048modulation by virus of host morphology or physiology ----
GO:0048524positive regulation of viral process IDA--

Find genes that share ontologies with C9orf69           About GenesLikeMe



(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 C9orf69 (CI069)



(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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for C9orf69 gene (2 alternative transcripts): 
NM_001256526.1  NM_152833.2  

Unigene Cluster for C9orf69:

Chromosome 9 open reading frame 69
Hs.287411  [show with all ESTs]
Unigene Representative Sequence: NM_152833
5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000418388 ENST00000557985 ENST00000447934 ENST00000448040 ENST00000561457(uc004cgx.4 uc004cgy.2)

miRNA
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Selected qRT-PCR Assays for microRNAs that regulate C9orf69 (see all 38):
hsa-miR-15a hsa-miR-29a hsa-miR-301a hsa-miR-449a hsa-miR-1184 hsa-miR-424 hsa-miR-155 hsa-miR-130b
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
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Primer
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  QuantiFast Probe-based Assays in human, mouse, rat C9orf69

Additional mRNA sequence: 

AK023162.1 AK091349.1 BC009229.2 BC013282.2 BC014304.2 BC021231.2 BC064970.1 BC084549.1 
BC092490.1 BC111053.1 

9 DOTS entries:

DT.455461  DT.91695587  DT.95296432  DT.121156352  DT.92029530  DT.100729122  DT.100777859  DT.100777860 
DT.121156359 

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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C9orf69 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: ACCCACCTGC
C9orf69 Expression
About this image

C9orf69 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

SOURCE GeneReport for Unigene cluster: Hs.287411
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In Situ
Assay Products:
 

 
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(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 C9orf69 gene from Selected species (see all 7)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia C330006A16Rik1 , 5 RIKEN cDNA C330006A16 gene1, 5 89.45(n)1
95.68(a)1
  2 (18.35 cM)5
1092991  NM_001256521.11  NP_001243450.11 
 261368145 
chicken
(Gallus gallus)
Aves C17H9orf691 chromosome 17 open reading frame, human C9orf69 76.02(n)
83.45(a)
  100859101  XM_003642295.2  XP_003642343.1 
tropical clawed frog
(Xenopus tropicalis)
Amphibia LOC1004896291 chromosome unknown open reading frame, human C9orf69 76.5(n)
83.45(a)
  100489629  XM_004916631.1  XP_004916688.1 
zebrafish
(Danio rerio)
Actinopterygii LOC1003323311 protein C9orf69-like 75.06(n)
69.78(a)
  100332331  XM_002667432.3  XP_002667478.1 


ENSEMBL Gene Tree for C9orf69 (if available)
TreeFam Gene Tree for C9orf69 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for C9orf69 gene

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1 Pseudogenes.org Pseudogene for C9orf69
PGOHUM00000262479


(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 C9orf69 (see all 148)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 9 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs11648971,2
C--108475195(+) TCCCAC/TGTGGC 1 -- us2k112Minor allele frequency- T:0.00NA WA CSA EA 374
rs1851399881,2
--108475196(+) CCCATA/GTGGCT 1 -- us2k10--------
rs1509522051,2
--108475215(+) GACGCC/TGGCAC 1 -- us2k10--------
rs1130740831,2
F--139005995(+) CCGGGC/TGTGGT 2 -- int1 ds50011Minor allele frequency- T:0.50CSA 2
rs101217971,2
C--139006001(+) gtggtC/Ggtggg 2 -- int1 ds50010--------
rs1869443661,2
--139006042(+) AGACAA/CAAGAA 2 -- int1 ds50010--------
rs1463753611,2
--139006110(+) AGCCCA/GGCTGA 2 -- int1 ds50010--------
rs1925065451,2
--139006171(+) GTCAGC/TCGAAT 2 -- int1 ds50010--------
rs1849235421,2
--139006193(+) CGGCCA/TGCACA 2 -- int1 ds50010--------
rs1898287871,2
--139006279(+) AAGGAC/GAACCC 2 -- int1 ds50010--------

HapMap Linkage Disequilibrium report for C9orf69 (139006427 - 139010731 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for C9orf69 (see all 20):    About this table    
Variant IDTypeSubtypePubMed ID
nsv509332CNV Insertion20534489
nsv6762CNV Insertion18451855
nsv894320CNV Loss21882294
dgv8380n71CNV Loss21882294
dgv8379n71CNV Loss21882294
nsv894322CNV Loss21882294
dgv8382n71CNV Loss21882294
nsv894294CNV Loss21882294
dgv8381n71CNV Loss21882294
nsv831757CNV Loss17160897

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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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Find genes that share disorders with C9orf69           About GenesLikeMe

Genetic Association Database (GAD): C9orf69

Export disorders for C9orf69 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 C9orf69 gene integrated from 10 sources:
(articles sorted by number of sources associating them with C9orf69)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Host cell protein C9orf9 promotes viral proliferation via interaction with HSV-1 UL25 protein. (PubMed id 21667337)1, 2, 3 Zhang Y.... Li Q.H. (Zhongguo Bing Du Xue 2011)
  2. 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)
  3. A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose. (PubMed id 19875614)4 Paterson A.D....Bull S.B. (Diabetes 2010)
  4. 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)
  5. 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)
  6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
  7. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)2 Humphray S.J.... Dunham I. (Nature 2004)
  8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

(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: 90120 HGNC: 31009 Ensembl:ENSG00000238227 euGenes: HUgn90120 ECgene: C9orf69
H-InvDB: C9orf69

(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 C9orf69 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 C9orf69 gene:
Search GeneIP for patents involving C9orf69

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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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 genOway)
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 Block miRNA regulation of human, mouse, rat C9orf69 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing C9orf69
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 Search Tocris compounds for C9orf69 (CI069)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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