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C5orf60 Gene

protein-coding   GIFtS: 36
GCID: GC05M179071

Chromosome 5 Open Reading Frame 60

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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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Chromosome 5 Open Reading Frame 601 2
Putative Uncharacterized Protein C5orf602
Putative Uncharacterized Protein FLJ357232

External Ids:    HGNC: 277531   Entrez Gene: 2856792   Ensembl: ENSG000002046617   UniProtKB: A6NFR63   
ORGUL members:         

Export aliases for C5orf60 gene to outside databases

Previous GC identifers: GC05M179003 GC05P173801


(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 C5orf60 Gene:
C5orf60 (chromosome 5 open reading frame 60) is a protein-coding gene. An important paralog of this gene is LOC100502572.


(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_000005.9  NT_023133.14  NC_018916.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for C5orf60
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C5orf60

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C5orf60


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

Entrez Gene cytogenetic band: 5q35.3   Ensembl cytogenetic band:  5q35.3   HGNC cytogenetic band: 5q35.3

C5orf60 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C5orf60 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M179071:  view genomic region     (about GC identifiers)

Start:
179,068,545 bp from pter      End:
179,072,047 bp from pter
Size:
3,503 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, 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: CE060_HUMAN, A6NFR6 (See protein sequence)
Recommended Name: Putative uncharacterized protein C5orf60  
Size: 353 amino acids; 39250 Da
Sequence caution: Sequence=AAI30443.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAI30445.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A1L488 B7ZM52 B7ZM53
Alternative splicing: 4 isoforms:  A6NFR6-1   A6NFR6-2   A6NFR6-3   A6NFR6-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C5orf60: NX_A6NFR6

Explore proteomics data for C5orf60 at MOPED


See C5orf60 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001135778.1  
ENSEMBL proteins: 
 ENSP00000404583   ENSP00000421415   ENSP00000421635  

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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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ProtoNet protein and cluster: A6NFR6


(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:
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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
CE060_HUMAN, A6NFR6: Membrane; Single-pass membrane protein (Potential)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
golgi apparatus1
plasma membrane1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016021integral component of membrane IEA--

Find genes that share ontologies with C5orf60           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 C5orf60
Interactions:

    Search GeneGlobe Interaction Network for C5orf60

(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 C5orf60 (CE060)



(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 C5orf60 gene (2 alternative transcripts): 
NM_001142306.1  NM_001013718.1  

Unigene Cluster for C5orf60:

Chromosome 5 open reading frame 60
Hs.558748  [show with all ESTs]
Unigene Representative Sequence: AK093042
8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000514664 ENST00000448248(uc003mki.3 uc011dgo.2) ENST00000511063
ENST00000512899 ENST00000506142 ENST00000513845 ENST00000513142 ENST00000503358

miRNA
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Additional mRNA sequence: 

AK093042.1 BC130442.1 BC130444.1 BC144274.1 BC144275.1 

5 DOTS entries:

DT.120863443  DT.100713990  DT.100748503  DT.120863446  DT.95230313 

5 AceView cDNA sequences:

BX088746 AA453979 BC040992 AI024381 BI461388 

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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C5orf60 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GACACCGAAT
C5orf60 Expression
About this image

C5orf60 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C5orf60 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.558748
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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 human and chimp.

Orthologs for C5orf60 gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chimpanzee
(Pan troglodytes)
Mammalia LOC4623261 putative uncharacterized protein C5orf60-like 97.51(n)
95.18(a)
  462326  XM_518148.4  XP_518148.4 


ENSEMBL Gene Tree for C5orf60 (if available)
TreeFam Gene Tree for C5orf60 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for C5orf60 gene
LOC1005025722  

Find genes that share paralogs with C5orf60           About GenesLikeMe


1 Pseudogenes.org Pseudogene for C5orf60
PGOHUM00000235864


(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 C5orf60 (see all 147)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 5 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs117473101,2
C,F,H--179068067(-) cgcaaC/Gtcact 1 -- int12Minor allele frequency- G:0.08WA NA 238
rs1145442251,2
F--179068071(+) AGTTGC/TGATCT 1 -- int11Minor allele frequency- T:0.04WA 118
rs1864106671,2
--179068078(+) ATCTCA/GCCACT 1 -- int10--------
rs1478629951,2
--179068086(+) ACTGCA/GCTCCA 1 -- int10--------
rs68938821,2
C--179068116(-) tgagaC/Tggagt 1 -- int10--------
rs1132112701,2
C,F--179068164(+) AACAGC/ATTAAG 1 -- int11Minor allele frequency- A:0.50WA 2
rs1906707841,2
--179068166(+) CAGCTA/TAAGCC 1 -- int10--------
rs131675381,2
C,F--179068192(-) ACAAAG/ATCTTA 1 -- int17Minor allele frequency- A:0.12NA WA EA 366
rs2003542381,2
--179068193(+) AAGAC-/TTTGTCA 1 -- int10--------
rs1828610771,2
--179068199(+) TTGTCA/CAATCC 1 -- int10--------

HapMap Linkage Disequilibrium report for C5orf60 (179068545 - 179072047 bp)

Structural Variations
     Database of Genomic Variants (DGV) 9 variations for C5orf60:    About this table    
Variant IDTypeSubtypePubMed ID
nsv883270CNV Loss21882294
nsv823358CNV Loss20364138
nsv883273CNV Loss21882294
nsv830560CNV Loss17160897
esv1005618OTHER Inversion20482838
nsv7375OTHER Inversion18451855
esv1419350OTHER Inversion17803354
nsv281OTHER Inversion15895083
nsv499095OTHER Inversion21111241

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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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  --

(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 C5orf60 gene integrated from 10 sources:
(articles sorted by number of sources associating them with C5orf60)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)1, 2 Schmutz J.... Rubin E.M. (Nature 2004)
  2. 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)
  3. 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)
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)

(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: 285679 HGNC: 27753 AceView: LOC285679 Ensembl:ENSG00000204661 euGenes: HUgn285679
ECgene: C5orf60 H-InvDB: C5orf60

(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 C5orf60 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 C5orf60 gene:
Search GeneIP for patents involving C5orf60

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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Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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