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C1orf64 Gene

protein-coding   GIFtS: 40
GCID: GC01P016330

Chromosome 1 Open Reading Frame 64

  See C1orf64-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 641 2
ER-Related Factor1 2
ERRF2
Uncharacterized Protein C1orf642

External Ids:    HGNC: 283391   Entrez Gene: 1495632   Ensembl: ENSG000001838887   UniProtKB: Q8NEQ63   

Export aliases for C1orf64 gene to outside databases

Previous GC identifers: GC01P016077 GC01P016203 GC01P014849


(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 C1orf64 Gene:
C1orf64 (chromosome 1 open reading frame 64) is a protein-coding gene. Diseases associated with C1orf64 include breast and colorectal cancer.


(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_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the C1orf64 gene promoter:
         AP-1   SREBP-1c   NCX/Ncx   Ik-3   YY1   SREBP-1b   PPAR-gamma1   POU2F1   SREBP-1a   PPAR-gamma2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C1orf64

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C1orf64


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

Entrez Gene cytogenetic band: 1p36.13   Ensembl cytogenetic band:  1p36.13   HGNC cytogenetic band: 1p36.13

C1orf64 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C1orf64 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P016330:  view genomic region     (about GC identifiers)

Start:
16,330,731 bp from pter      End:
16,335,302 bp from pter
Size:
4,572 bases      Orientation:
plus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: CA064_HUMAN, Q8NEQ6 (See protein sequence)
Recommended Name: Uncharacterized protein C1orf64  
Size: 169 amino acids; 17657 Da
Secondary accessions: B3KXI9

Explore the universe of human proteins at neXtProt for C1orf64: NX_Q8NEQ6

Explore proteomics data for C1orf64 at MOPED


See C1orf64 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_849162.1  
ENSEMBL proteins: 
 ENSP00000332162  

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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:
 IPR027852 DUF4654

Graphical View of Domain Structure for InterPro Entry Q8NEQ6

ProtoNet protein and cluster: Q8NEQ6


Find genes that share domains with C1orf64           About GenesLikeMe


(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, 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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Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C1orf64
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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
nucleus2
cytosol1

(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 C1orf64
Interactions:

    Search GeneGlobe Interaction Network for C1orf64

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

1 Interacting protein for C1orf64 (ENSP000003321624) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
RSBN1ENSP000002614414STRING: ENSP00000261441
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 C1orf64 (CA064)



(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 C1orf64 gene: 
NM_178840.2  

Unigene Cluster for C1orf64:

Chromosome 1 open reading frame 64
Hs.29190  [show with all ESTs]
Unigene Representative Sequence: AK127425
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000329454(uc001axn.3)
miRNA
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Additional mRNA sequence: 

AK127425.1 BC017946.1 

3 DOTS entries:

DT.103848  DT.121415193  DT.100748351 

Selected AceView cDNA sequences (see all 29):

AA580152 BE221967 BX097668 AW016669 AJ709695 AW051410 AI953386 AA991570 
BC017946 CD238054 AK127425 BU622741 AI732488 AI497700 AI820748 AI699643 
AI566012 NM_178840 AI732325 AI791442 AI373462 BG196787 BF680076 BG219257 

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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C1orf64 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GTTTTCCTGG
C1orf64 Expression
About this image

C1orf64 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C1orf64 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.29190
    Custom PCR Arrays for C1orf64
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1orf64

(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 C1orf64 gene from Selected species (see all 5)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Gm6941 , 5 predicted gene 6941, 5 64.4(n)1
45.68(a)1
  4 (74.12 cM)5
2777441  NM_001033374.31  NP_001028546.11 
 1414326725 


ENSEMBL Gene Tree for C1orf64 (if available)
TreeFam Gene Tree for C1orf64 (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 C1orf64 (see all 151)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0354924
A breast cancer sample4--see VAR_0354922 G W mis40--------
VAR_0354914
A breast cancer sample4--see VAR_0354912 G W mis40--------
rs1507062111,2
C,Funtested116332740(+) CTAAGG/AGGAAA 2 /R /G mis12Minor allele frequency- A:0.00NA EU 5661
rs358676121,2
C--16328744(+) TTTTT-/T/TTT 
        
TTTTT
2 -- us2k1 cds10--------
rs1893823381,2
--16328775(+) GTCTCA/GCTCCC 1 -- us2k10--------
rs39615951,2
F--16328942(+) gttttG/Accatg 1 -- us2k11Minor allele frequency- A:0.00NA 2
rs1846105471,2
--16328945(+) TTGCCA/TTGTTG 1 -- us2k10--------
rs39615971,2
C--16328947(+) gccatG/Attggc 1 -- us2k13Minor allele frequency- A:0.17NA WA 6
rs39615981,2
C--16328959(+) aggctG/Agtctc 1 -- us2k13Minor allele frequency- A:0.17NA WA 6
rs39784961,2
C,F--16328964(+) ggtctC/Ggaact 1 -- us2k13Minor allele frequency- G:0.17NA WA 6

HapMap Linkage Disequilibrium report for C1orf64 (16330731 - 16335302 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for C1orf64 (see all 11):    About this table    
Variant IDTypeSubtypePubMed ID
nsv508936CNV Insertion20534489
dgv176n71CNV Loss21882294
dgv174n71CNV Loss21882294
nsv871485CNV Loss21882294
nsv871695CNV Loss21882294
nsv524045CNV Loss19592680
nsv520148CNV Loss19592680
nsv871162CNV Gain21882294
dgv175n71CNV Gain21882294
nsv517651CNV Gain+Loss19592680

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing C1orf64
DNA2.0 Custom Variant and Variant Library Synthesis for C1orf64

(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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1 disease for C1orf64:    
About MalaCards
breast and colorectal cancer


Find genes that share disorders with C1orf64           About GenesLikeMe


Export disorders for C1orf64 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 C1orf64 gene integrated from 10 sources:
(articles sorted by number of sources associating them with C1orf64)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Role of ERRF, a novel ER-related nuclear factor, in the growth control of ER-positive human breast cancer cells. (PubMed id 22341523)1, 3 Su D....Dong J.T. (Am. J. Pathol. 2012)
  2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  4. 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)
  5. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (Science 2006)
  6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
  7. 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: 149563 HGNC: 28339 AceView: MGC24047 Ensembl:ENSG00000183888 euGenes: HUgn149563
ECgene: C1orf64 H-InvDB: C1orf64

(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 C1orf64 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 C1orf64 gene:
Search GeneIP for patents involving C1orf64

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, eBioscience, 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 inGenious Targeting Laboratory, genOway)
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 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for C1orf64
 LSBio Antibodies in human, mouse, rat for C1orf64
Customized transgenic rodents for:
 Humanization
 Biomarker expression
 Off-target effect monitoring
 Translational medicine
 Tissue-specific gene expresssion
 Time-controlled gene expresssion
 Browse compounds at ApexBio
 Search Addgene for plasmids for C1orf64
  Search eBioscience for proteins for C1orf64
  Search eBioscience for elisas for C1orf64
  eBioscience FlowRNA Probe Sets
       
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

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