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C4orf33 Gene

protein-coding   GIFtS: 43
GCID: GC04P130014

Chromosome 4 Open Reading Frame 33

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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 4 Open Reading Frame 331 2
UPF0462 Protein C4orf332

External Ids:    HGNC: 270251   Entrez Gene: 1323212   Ensembl: ENSG000001514707   UniProtKB: Q8N1A63   

Export aliases for C4orf33 gene to outside databases

Previous GC identifers: GC04P130234 GC04P125745


(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 C4orf33 Gene:
C4orf33 (chromosome 4 open reading frame 33) 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_000004.11  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C4orf33 gene promoter:
         CREB   Pax-3   deltaCREB   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C4orf33

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C4orf33


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

Entrez Gene cytogenetic band: 4q28.2   Ensembl cytogenetic band:  4q28.2   HGNC cytogenetic band: 4q28.2

C4orf33 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C4orf33 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P130014:  view genomic region     (about GC identifiers)

Start:
130,014,472 bp from pter      End:
130,037,795 bp from pter
Size:
23,324 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: CD033_HUMAN, Q8N1A6 (See protein sequence)
Recommended Name: UPF0462 protein C4orf33  
Size: 199 amino acids; 23468 Da
Secondary accessions: D3DNY2 Q6PJF3 Q8NBC5

Explore the universe of human proteins at neXtProt for C4orf33: NX_Q8N1A6

Explore proteomics data for C4orf33 at MOPED


See C4orf33 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts): 
NP_001093253.1  NP_775758.2  

ENSEMBL proteins: 
 ENSP00000281146   ENSP00000427406   ENSP00000427096   ENSP00000427431   ENSP00000401090  

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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: Q8N1A6

UniProtKB/Swiss-Prot: CD033_HUMAN, Q8N1A6
Similarity: Belongs to the UPF0462 family


(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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Phenotypes:
     2 GenomeRNAi human phenotypes for C4orf33:
 Decreased p24 protein expressi  Downregulation of NF-kappaB pa 

Animal Models:
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SwitchGear 3'UTR luciferase reporter plasmidC4orf33 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
cytosol3
nucleus2
extracellular1

(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 C4orf33
Interactions:

    Search GeneGlobe Interaction Network for C4orf33

(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 C4orf33 (CD033)



(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 C4orf33 gene (2 alternative transcripts): 
NM_001099783.1  NM_173487.2  

Unigene Cluster for C4orf33:

Chromosome 4 open reading frame 33
Hs.567679  [show with all ESTs]
Unigene Representative Sequence: NM_173487
6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000281146(uc003igu.4) ENST00000502887(uc010ioc.1) ENST00000502360
ENST00000508673 ENST00000508622 ENST00000425929(uc010iod.3)
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SwitchGear 3'UTR luciferase reporter plasmidC4orf33 3' UTR sequence
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Additional mRNA sequence: 

AK091022.1 AK309229.1 BC016358.2 BC032582.1 BX538164.1 

7 DOTS entries:

DT.100008308  DT.100783296  DT.102831029  DT.100783297  DT.121221766  DT.95115332  DT.95360924 

Selected AceView cDNA sequences (see all 82):

BP871612 BX458697 AI393127 BU070277 BE042953 CB128050 AA988994 CR618701 
BQ549846 BQ613979 AI634516 CR605621 BM449892 BQ029288 AA622492 AI760138 
BG054517 AL601894 AI659252 BF184491 BQ787533 AW270866 AA948437 AA969302 

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for C4orf33    About this scheme

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


ECgene alternative splicing isoforms for C4orf33

(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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C4orf33 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CTGTATGTTT
C4orf33 Expression
About this image

C4orf33 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C4orf33 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.567679
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C4orf33

(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 animals.

Orthologs for C4orf33 gene from Selected species (see all 14)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia D3Ertd751e1 , 5 DNA segment, Chr 3, ERATO Doi 751, expressed1, 5 85.24(n)1
82.29(a)1
  3 (19.96 cM)5
738521  NM_028667.31  NP_082943.21 
 417426115 
chicken
(Gallus gallus)
Aves C4ORF331 chromosome 4 open reading frame, human C4orf33 73.44(n)
69.79(a)
  422485  XM_420450.3  XP_420450.3 
lizard
(Anolis carolinensis)
Reptilia C4orf336
chromosome 4 open reading frame 33
70(a)
1 ↔ 1
AAWZ02035000(51557-64949)
tropical clawed frog
(Xenopus tropicalis)
Amphibia Str.176362 Transcribed sequence with weak similarity to protein more 71.7(n)    BX780307.1 
zebrafish
(Danio rerio)
Actinopterygii zgc:777391 zgc:77739 61.73(n)
60.71(a)
  393870  NM_200896.1  NP_957190.1 
worm
(Caenorhabditis elegans)
Secernentea CELE_C33A12.31 CELE_C33A12.3 54.73(n)
46.59(a)
  183139  NM_001268466.1  NP_001255395.1 


ENSEMBL Gene Tree for C4orf33 (if available)
TreeFam Gene Tree for C4orf33 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for C4orf33 gene
1 SIMAP similar gene for C4orf33 using alignment to 4 protein entries:     CD033_HUMAN (see all proteins):
LOC132321

Find genes that share paralogs with C4orf33           About GenesLikeMe


1 Pseudogenes.org Pseudogene for C4orf33
PGOHUM00000246073


(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 C4orf33 (see all 347)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 4 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs716139111,2
--129813664(+) TGTGTG/AATATA 2 -- int11Minor allele frequency- A:0.50NA 2
rs1829333541,2
--130016775(+) CATTTG/TGTTGA 2 -- us2k1 int10--------
rs770133141,2
C,F--130016835(+) ACAAAG/ATTAGA 2 -- us2k1 int12Minor allele frequency- A:0.11WA 120
rs1872273631,2
--130016849(+) TTAAGC/TAAGGA 2 -- us2k1 int10--------
rs1501838401,2
--130016909(+) AGGCAA/GTATGG 2 -- us2k1 int10--------
rs1924954811,2
--130016977(+) TATAGG/TTTATA 2 -- us2k1 int10--------
rs1159943591,2
F--130016978(+) ATAGTT/ATATAG 2 -- us2k1 int11Minor allele frequency- A:0.01WA 118
rs31196961,2
C,F,O,A--130017135(+) TCACCC/TTTCCT 2 -- us2k1 int1 trp38Minor allele frequency- N:0.03EA NA 460
rs729279311,2
C,F--130017160(+) ACTCAT/AACTTT 2 -- us2k1 int12Minor allele frequency- A:0.11WA 120
rs1840770641,2
--130017187(+) GTCTTA/CAGTTG 2 -- us2k1 int10--------

HapMap Linkage Disequilibrium report for C4orf33 (130014472 - 130037795 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for C4orf33:    About this table    
Variant IDTypeSubtypePubMed ID
nsv879931CNV Loss21882294

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing C4orf33
DNA2.0 Custom Variant and Variant Library Synthesis for C4orf33

(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 C4orf33           About GenesLikeMe

Genetic Association Database (GAD): C4orf33
Human Genome Epidemiology (HuGE) Navigator: C4orf33 (1 document)

Export disorders for C4orf33 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 C4orf33 gene, integrated from 10 sources (see all 14):
(articles sorted by number of sources associating them with C4orf33)
    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 Ota T.... Sugano S. (Nat. Genet. 2004)
  2. 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)
  3. A genome-wide association meta-analysis identifies new childhood obesity loci. (PubMed id 22484627)4 Bradfield J.P....Grant S.F. (Nat. Genet. 2012)
  4. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
  5. Genetic associations of variants in genes encoding HIV-dependency factors required for HIV-1 infection. (PubMed id 21083371)4 Chinn L.W....O'Brien S.J. (J. Infect. Dis. 2010)
  6. Identification of host proteins required for HIV infection through a functional genomic screen. (PubMed id 18187620)1 Brass A.L....Elledge S.J. (Science 2008)
  7. Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness. (PubMed id 17903302)4 Levy D....Mitchell G.F. (BMC Med. Genet. 2007)
  8. A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study. (PubMed id 17903292)4 Hwang S.J....Fox C.S. (BMC Med. Genet. 2007)
  9. Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. (PubMed id 17903301)4 Vasan R.S....Benjamin E.J. (BMC Med. Genet. 2007)
  10. Distinct class of putative &quot;non-conserved&quot; promoters in humans: comparative studies of alternative promoters of human and mouse genes. (PubMed id 17567985)1 Tsuritani K....Suzuki Y. (Genome Res. 2007)

(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: 132321 HGNC: 27025 AceView: LOC132321 Ensembl:ENSG00000151470 euGenes: HUgn132321
ECgene: C4orf33 H-InvDB: C4orf33

(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 C4orf33 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 C4orf33 gene:
Search GeneIP for patents involving C4orf33

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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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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