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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

C1orf228 Gene

protein-coding   GIFtS: 37
GCID: GC01P045140

Chromosome 1 Open Reading Frame 228

(Previous name: non-protein coding RNA 82)
(Previous symbol: NCRNA00082)
  Search for C1orf228
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Chromosome 1 Open Reading Frame 2281 2
NCRNA000821 2 3
p402 3
Non-Protein Coding RNA 821
Uncharacterized Protein C1orf2282

External Ids:    HGNC: 343451   Entrez Gene: 3395412   Ensembl: ENSG000001985207   UniProtKB: Q6PIY53   

Export aliases for C1orf228 gene to outside databases

Previous GC identifers: GC01P044938 GC01P043255


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for C1orf228 Gene: 
C1orf228 (chromosome 1 open reading frame 228) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C1orf228 gene promoter:
         AML1a   NF-AT   NF-AT4   NF-AT2   NF-AT3   c-Myb   Cart-1   NF-AT1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C1orf228

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C1orf228


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

Entrez Gene cytogenetic band: 1p34.1   Ensembl cytogenetic band:  1p34.1   HGNC cytogenetic band: 1p34.1

C1orf228 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C1orf228 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P045140:  view genomic region     (about GC identifiers)

Start:
45,140,364 bp from pter      End:
45,191,263 bp from pter
Size:
50,900 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CA228_HUMAN, Q6PIY5 (See protein sequence)
Recommended Name: Uncharacterized protein C1orf228  
Size: 440 amino acids; 48855 Da
Secondary accessions: A1KXE5
Alternative splicing: 2 isoforms:  Q6PIY5-1   Q6PIY5-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C1orf228: NX_Q6PIY5

Explore proteomics data for C1orf228 at MOPED 

C1orf228 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

C1orf228 Protein Expression

REFSEQ proteins: NP_001139108.1  
ENSEMBL proteins: 
 ENSP00000417206   ENSP00000420358   ENSP00000420716   ENSP00000420664   ENSP00000417998  
 ENSP00000417538   ENSP00000420050   ENSP00000440524  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
2 InterPro protein domains:
 IPR011989 ARM-like
 IPR016024 ARM-type_fold

Graphical View of Domain Structure for InterPro Entry Q6PIY5

ProtoNet protein and cluster: Q6PIY5


C1orf228 for domains           About GeneDecksing


(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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

     Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005488binding ----
     
C1orf228 for ontologies           About GeneDecksing


Animal Models:
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miRNA
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(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C1orf228

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

4 Interacting proteins for C1orf228 (ENSP000004207164) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
RNF220ENSP000003475484STRING: ENSP00000347548
CAP1ENSP000003618784STRING: ENSP00000361878
CRCT1ENSP000003577794STRING: ENSP00000357779
LCE5AENSP000003339524STRING: ENSP00000333952
About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for C1orf228 (CA228)

Search CenterWatch for drugs/clinical trials and news about C1orf228 / CA228

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for C1orf228 gene (2 alternative transcripts): 
NM_001004307.2  NM_001145636.1  

Unigene Cluster for C1orf228:

Chromosome 1 open reading frame 228
Hs.173679  [show with all ESTs]
Unigene Representative Sequence: BC026115
18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
ENST00000424484 ENST00000418644 ENST00000455805 ENST00000458657 ENST00000441519
ENST00000357508 ENST00000445071 ENST00000453711 ENST00000421398 ENST00000444751
ENST00000434068 ENST00000434520 ENST00000427321 ENST00000446792 ENST00000444525
ENST00000440383 ENST00000427336 ENST00000418779
miRNA
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OriGene ORF clones in mouse, rat for C1orf228
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DNA2.0 Custom Codon Optimized Gene Synthesis Service for C1orf228
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C1orf228
Sirion Biotech Customized lentivirus for stable overexpression of C1orf228 
                     Customized lentivirus expression plasmids for stable overexpression of C1orf228 
Primer
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  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C1orf228

Additional mRNA sequence: 

AY254217.1 BC026115.1 

9 DOTS entries:

DT.440764  DT.99977247  DT.422899  DT.100033575  DT.97786464  DT.75101509  DT.100013407  DT.91726761 
DT.70104263 

24/61 AceView cDNA sequences (see all 61):

BM971816 AW015512 BU949601 AI436577 AI494416 BX098537 AL119896 AI760165 
AW241888 AI141011 AI356499 BE674675 AI341569 BM564237 BM564126 BI830265 
AI494564 NM_001004307 BX112141 AI356486 BI824371 BX093906 AJ713037 BU609011 

GeneLoc Exon Structure

5/10 Alternative Splicing Database (ASD) splice patterns (SP) for C1orf228 (see all 10)    About this scheme

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b · 12c ^ 13 ^ 14a · 14b
SP1:                          -     -     -                                                                                   -                                 
SP2:                          -           -                                                                                                                     
SP3:                                -     -                                                                                                                     
SP4:                                      -                                                                                                                     
SP5:                          -     -     -                 -     -     -                                                                                       


ECgene alternative splicing isoforms for C1orf228

(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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

C1orf228 expression in normal human tissues (normalized intensities)      C1orf228 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GCAGCTCCTA
C1orf228 Expression
About this image


C1orf228 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/4 selected tissues (see all 4) fully expand
 
 Blood (Hematopoietic System)    fully expand to see all 6 entries
         T Helper Cells Thymus
         Cord Blood CD133- Cells   
         cd3+ t cells   
 
 Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 2 entries
         Cord Blood CD133- Cells   
 
 Epithelium (Respiratory System)    fully expand to see all 2 entries
         bronchial epithelial cells   
 
 Thymus (Hematopoietic System)
         T Helper Cells Thymus

See C1orf228 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C1orf228

SOURCE GeneReport for Unigene cluster: Hs.173679
    SABiosciences Custom PCR Arrays for C1orf228
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1orf228

(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)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for C1orf228 gene from 5/13 species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Gm16611 , 5 predicted gene 16611, 5 81.79(n)1
78.47(a)1
  4 (53.43 cM)5
3815441  NM_001145637.11  NP_001139109.11 
 1172151935 
chicken
(Gallus gallus)
Aves C1orf2286
chromosome 1 open reading frame 228
55(a)
1 ↔ 1
8(19636538-19645504)
lizard
(Anolis carolinensis)
Reptilia C1ORF2286
Uncharacterized protein
62(a)
1 ↔ 1
4(110012726-110044047)
African clawed frog
(Xenopus laevis)
Amphibia Xl.17492 Xenopus laevis transcribed sequences 71.71(n)    BJ622892.1 
zebrafish
(Danio rerio)
Actinopterygii Dr.149412 Transcribed sequences 73.19(n)    BQ419924.1 


ENSEMBL Gene Tree for C1orf228 (if available)
TreeFam Gene Tree for C1orf228 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
  --

(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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/867 SNPs in C1orf228 are shown (see all 867)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1872541651,2
--45142147(+) AACACA/CCAAGT 1 -- int10--------
rs115828071,2
C,F,H--45142157(+) tttgaG/Aggtct 1 -- int112Minor allele frequency- A:0.39NA WA CSA EA 374
rs726719831,2
C,F--45142164(+) GTCTGG/ACAAAG 1 -- int11Minor allele frequency- A:0.05NA 120
rs115810741,2
C,F,H--45142209(+) gtccaA/Gaatgg 1 -- int120Minor allele frequency- G:0.34NS EA NA WA CSA 1202
rs1503716491,2
--45142279(+) CTTATA/GACTAA 1 -- int10--------
rs584011481,2
C,F--45142295(+) TAAAAT/GAAGGC 1 -- int15Minor allele frequency- G:0.32WA CSA EA 244
rs1891244071,2
--45142348(+) GACCTC/TTACAA 1 -- int10--------
rs1815519721,2
--45142404(+) GTTTGA/CGAAGC 1 -- int10--------
rs1381010421,2
--45142416(+) GATGGC/GATTGA 1 -- int10--------
rs767658241,2
C,F--45142472(+) TTTAGG/CAGAAG 1 -- int14Minor allele frequency- C:0.04CSA WA EA 242

HapMap Linkage Disequilibrium report for C1orf228 (45140364 - 45191263 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for C1orf228:    About this table     
Variant IDTypeSubtypePubMed ID
esv2662778CNV Deletion23128226
esv2657051CNV Deletion23128226

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
  --

(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)
About This Section

PubMed articles for C1orf228 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C1orf228)
    Utopia: connect your pdf to the dynamic
world of online information

  1. 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. (2002)
  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. (2004)
  3. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 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)
About This Section
Entrez Gene: 339541 HGNC: 34345 AceView: MGC33556 Ensembl:ENSG00000198520 euGenes: HUgn339541
ECgene: C1orf228 H-InvDB: C1orf228

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for C1orf228 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for C1orf228 gene:
Search GeneIP for patents involving C1orf228

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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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