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C1orf222 Gene

protein-coding   GIFtS: 33
GCID: GC01M001845

Chromosome 1 Open Reading Frame 222

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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 1 Open Reading Frame 2221 2
Uncharacterized Protein C1orf2222

External Ids:    HGNC: 279171   Entrez Gene: 3394572   Ensembl: ENSG000001426097   UniProtKB: Q69YW03   

Export aliases for C1orf222 gene to outside databases

Previous GC identifer: GC01M001130


(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 C1orf222 Gene:
C1orf222 (chromosome 1 open reading frame 222) 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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Regulatory elements:
   Regulatory transcription factor binding sites in the C1orf222 gene promoter:
         STAT1   AML1a   Lmo2   STAT1beta   GATA-2   E47   STAT1alpha   Ik-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C1orf222

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C1orf222


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: 1p36.33

C1orf222 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C1orf222 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M001845:  view genomic region     (about GC identifiers)

Start:
1,853,390 bp from pter      End:
1,935,276 bp from pter
Size:
81,887 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., 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: CA222_HUMAN, Q69YW0 (See protein sequence)
Recommended Name: Uncharacterized protein C1orf222  
Size: 305 amino acids; 33154 Da

Explore the universe of human proteins at neXtProt for C1orf222: NX_Q69YW0

Explore proteomics data for C1orf222 at MOPED


See C1orf222 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


ENSEMBL proteins: 
 ENSP00000417061   ENSP00000420396   ENSP00000417421   ENSP00000473959   ENSP00000367853  
 ENSP00000408078  

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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:
 IPR008962 PapD-like

Graphical View of Domain Structure for InterPro Entry Q69YW0

ProtoNet protein and cluster: Q69YW0


Find genes that share domains with C1orf222           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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Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for C1orf222

miRNA
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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
cytosol2
nucleus2
endoplasmic reticulum1
golgi apparatus1
mitochondrion1
peroxisome1
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 C1orf222
Interactions:

    Search GeneGlobe Interaction Network for C1orf222

(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 C1orf222 (CA222)



(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 C1orf222 gene: 
NM_001003808.1  

Unigene Cluster for C1orf222:

Chromosome 1 open reading frame 222
Hs.259619  [show with all ESTs]
Unigene Representative Sequence: AL137547
11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000464311(uc001aik.3 uc001ail.3) ENST00000412120 ENST00000493964
ENST00000493316 ENST00000270720(uc009vkz.1 uc001aim.1) ENST00000468610
ENST00000461752 ENST00000604159 ENST00000378592(uc001ain.1) ENST00000378590
ENST00000434971
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Additional mRNA sequence: 

AL137547.1 BC114926.1 

3 DOTS entries:

DT.75149263  DT.92008717  DT.91747009 

6 AceView cDNA sequences:

AL137547 NM_001003808 AW665824 BF933672 AA927458 BF884782 

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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C1orf222 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GCGCCACGGC
C1orf222 Expression
About this image

C1orf222 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C1orf222 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.259619
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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 C1orf222 gene from Selected species (see all 6)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
dog
(Canis familiaris)
Mammalia C1orf2226
chromosome 1 open reading frame 222
73(a)
1 ↔ 1
5(56909492-56912834)
chicken
(Gallus gallus)
Aves C1orf2226
chromosome 1 open reading frame 222
38(a)
1 ↔ 1
21(1899180-1904490)
lizard
(Anolis carolinensis)
Reptilia C1orf2226
chromosome 1 open reading frame 222
40(a)
1 ↔ 1
AAWZ02039479(558-7763)


ENSEMBL Gene Tree for C1orf222 (if available)
TreeFam Gene Tree for C1orf222 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for C1orf222 gene
1 SIMAP similar gene for C1orf222 using alignment to 7 protein entries:     CA222_HUMAN (see all proteins):
KIAA1751

Find genes that share paralogs with C1orf222           About GenesLikeMe



(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 C1orf222 (see all 284)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1833866281,2
--1132569(+) CCCCAG/TCTCAC 1 -- int10--------
rs1866387181,2
--1132588(+) CCCCAC/TCTCAC 1 -- int10--------
rs786843101,2
F--1132623(+) GCCCGC/TGCCCG 1 -- int11Minor allele frequency- T:0.00NA 2
rs1830372181,2
--1132632(+) CGCCAG/TCTCAC 1 -- int10--------
rs1879152091,2
C--1132639(+) TCACCA/GACCAC 1 -- int10--------
rs3694814181,2
C--1132681(+) GTTCA-/CGGCCCG 1 -- int10--------
rs1129080771,2
C--1132685(+) CCGCCC/TGCAGC 1 -- int10--------
rs1900063761,2
--1836683(+) AAAGCC/TGAGCC 1 -- ds50010--------
rs1483743781,2
--1836967(+) GCTGCC/TCAGGG 1 -- ds50010--------
rs27489851,2
C,F--1836973(-) CTGGCG/ACCCTG 1 -- ds500110Minor allele frequency- A:0.43NA CSA WA EA 371

HapMap Linkage Disequilibrium report for C1orf222 (1853390 - 1935276 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for C1orf222: --
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing C1orf222
DNA2.0 Custom Variant and Variant Library Synthesis for C1orf222

(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 C1orf222 gene integrated from 10 sources:
(articles sorted by number of sources associating them with C1orf222)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
  2. 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)
  3. 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: 339457 HGNC: 27917 AceView: LOC339457 Ensembl:ENSG00000142609 euGenes: HUgn339457
ECgene: C1orf222 H-InvDB: C1orf222

(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 C1orf222 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 C1orf222 gene:
Search GeneIP for patents involving C1orf222

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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