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C1orf127 Gene

protein-coding   GIFtS: 40
GCID: GC01M011006

Chromosome 1 Open Reading Frame 127

  Search for C1orf127
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 1271 2
Uncharacterized Protein C1orf1272

External Ids:    HGNC: 267301   Entrez Gene: 1483452   Ensembl: ENSG000001752627   UniProtKB: Q8N9H93   

Export aliases for C1orf127 gene to outside databases

Previous GC identifers: GC01M010941 GC01M010159


(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 C1orf127 Gene:
C1orf127 (chromosome 1 open reading frame 127) is a protein-coding 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 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  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C1orf127 gene promoter:
         E2F-3a   E2F-4   Elk-1   E2F-5   Pax-5   MyoD   E2F-2   POU3F2   E2F-1   E2F   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C1orf127

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C1orf127


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

Entrez Gene cytogenetic band: 1p36.22   Ensembl cytogenetic band:  1p36.22   HGNC cytogenetic band: 1p36.22

C1orf127 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C1orf127 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M011006:  view genomic region     (about GC identifiers)

Start:
11,006,528 bp from pter      End:
11,042,094 bp from pter
Size:
35,567 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: CA127_HUMAN, Q8N9H9 (See protein sequence)
Recommended Name: Uncharacterized protein C1orf127  
Size: 656 amino acids; 69787 Da
Secondary accessions: A0AVG8 A6NKM7 Q5VXJ2
Alternative splicing: 2 isoforms:  Q8N9H9-1   Q8N9H9-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C1orf127: NX_Q8N9H9

Explore proteomics data for C1orf127 at MOPED


See C1orf127 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001164225.1  
ENSEMBL proteins: 
 ENSP00000387816   ENSP00000467607   ENSP00000429704   ENSP00000366203   ENSP00000366207  

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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:
 IPR027956 DUF4556

Graphical View of Domain Structure for InterPro Entry Q8N9H9

ProtoNet protein and cluster: Q8N9H9


Find genes that share domains with C1orf127           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 C1orf127
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SwitchGear 3'UTR luciferase reporter plasmidC1orf127 3' UTR sequence
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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
mitochondrion3
cytosol1
nucleus1
plasma membrane1

(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 C1orf127
Interactions:

    Search GeneGlobe Interaction Network for C1orf127

(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 C1orf127 (CA127)



(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 C1orf127 gene (2 alternative transcripts): 
NM_173507.1  NM_001170754.1  

Unigene Cluster for C1orf127:

Chromosome 1 open reading frame 127
Hs.127026  [show with all ESTs]
Unigene Representative Sequence: NM_001170754
6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000476357 ENST00000418570 ENST00000468348 ENST00000520253 ENST00000377004(uc001ars.2 uc010oao.2)
ENST00000377008(uc001arr.2)
miRNA
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hsa-miR-647 hsa-miR-3671 hsa-miR-607 hsa-miR-3920 hsa-miR-605 hsa-miR-4301
SwitchGear 3'UTR luciferase reporter plasmidC1orf127 3' UTR sequence
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Additional mRNA sequence: 

AK094437.1 BC126349.1 BC143794.1 BC143795.1 BC143797.1 

3 DOTS entries:

DT.100019678  DT.75166871  DT.100019679 

15 AceView cDNA sequences:

CK903874 BM052877 F32375 AK094437 NM_173507 BM052635 CA438298 BM052843 
BI964027 BU789445 CK903873 BI963755 BU789715 AW293569 AI813799 

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for C1orf127    About this scheme

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b · 10c
SP1:                          -     -     -                       -                                 
SP2:                                                                                                
SP3:                                                                                                
SP4:                                                                                -               
SP5:                                                                                                


ECgene alternative splicing isoforms for C1orf127

(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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C1orf127 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GAGACTCCAG
C1orf127 Expression
About this image

C1orf127 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C1orf127 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.127026
    Custom PCR Arrays for C1orf127
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1orf127

(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 C1orf127 gene from Selected species (see all 5)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Gm5721 , 5 predicted gene 5721, 5 77.93(n)1
68.96(a)1
  4 (78.82 cM)5
2309091  NM_001085505.11  NP_001078974.11 
 1486433175 
zebrafish
(Danio rerio)
Actinopterygii LOC1018836491 uncharacterized LOC101883649 48.8(n)
38(a)
  101883649  XM_005162289.1  XP_005162346.1 


ENSEMBL Gene Tree for C1orf127 (if available)
TreeFam Gene Tree for C1orf127 (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 C1orf127 (see all 1025)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1121818811,2
Cuntested111008016(+) CCCTCC/TCACAG 2 R G mis11Minor allele frequency- T:0.50CSA 2
rs761664511,2
F--11006125(+) GCCCAG/ATGTCC 1 -- int11Minor allele frequency- A:0.02EA 120
rs12810231,2
C,F--11006200(-) CCCCCA/CCGCCT 1 -- int13Minor allele frequency- C:0.08CSA WA NA 240
rs1859585501,2
--11006213(+) GCCGTC/TCCAGG 1 -- int10--------
rs1152648651,2
C,F--11006248(+) GCCTGG/CTAGGG 1 -- int11Minor allele frequency- C:0.03NA 120
rs1460140691,2
--11006443(+) CGGGAA/CGGATC 1 -- int10--------
rs22754901,2
C,F,O,H--11006569(-) GGCAAT/CGCCCG 1 -- ut31 ese323Minor allele frequency- C:0.16EA NA NS WA CSA 2850
rs1914031391,2
--11006586(+) CTCCTC/TTTCTT 1 -- ut310--------
rs12810221,2
C,F--11006624(-) GCAGAC/TCCATC 1 -- ut31 ese38Minor allele frequency- T:0.15NA WA CSA 250
rs1832995921,2
--11006647(+) GTCTGC/GGGGTC 1 -- ut310--------

HapMap Linkage Disequilibrium report for C1orf127 (11006528 - 11042094 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for C1orf127:    About this table    
Variant IDTypeSubtypePubMed ID
esv2672799CNV Deletion23128226
nsv508869CNV Insertion20534489
nsv832425CNV Loss17160897
dgv19e1CNV Complex17122850

Human Gene Mutation Database (HGMD): C1orf127
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing C1orf127
DNA2.0 Custom Variant and Variant Library Synthesis for C1orf127

(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 C1orf127           About GenesLikeMe

Genetic Association Database (GAD): C1orf127

Export disorders for C1orf127 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 C1orf127 gene integrated from 10 sources:
(articles sorted by number of sources associating them with C1orf127)
    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. Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma. (PubMed id 22327514)4 Postel-Vinay S....Delattre O. (Nat. Genet. 2012)
  3. Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases. (PubMed id 22693459)1 Li R....Richards J.B. (PLoS Genet. 2012)
  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 DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)
  6. 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)
  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: 148345 HGNC: 26730 AceView: FLJ37118 Ensembl:ENSG00000175262 euGenes: HUgn148345
ECgene: C1orf127 H-InvDB: C1orf127

(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 C1orf127 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 C1orf127 gene:
Search GeneIP for patents involving C1orf127

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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 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C1orf127
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C1orf127
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Customized transgenic rodents for:
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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

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