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C8orf33 Gene

protein-coding   GIFtS: 42
GCID: GC08P146249

Chromosome 8 Open Reading Frame 33

  Search for C8orf33
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 8 Open Reading Frame 331 2
UPF0488 Protein C8orf332

External Ids:    HGNC: 261041   Entrez Gene: 652652   Ensembl: ENSG000001823077   UniProtKB: Q9H7E93   

Export aliases for C8orf33 gene to outside databases

Previous GC identifer: GC08P141393


(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 C8orf33 Gene:
C8orf33 (chromosome 8 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:
NC_000008.11  NC_018919.2  NT_008046.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the C8orf33 gene promoter:
         STAT5B   STAT1   STAT1beta   STAT5A   STAT1alpha   AREB6   HEN1   IRF-2   STAT3   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C8orf33

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C8orf33


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

Entrez Gene cytogenetic band: 8q24.3   Ensembl cytogenetic band:  8q24.3   HGNC cytogenetic band: 8q24.3

C8orf33 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C8orf33 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P146249:  view genomic region     (about GC identifiers)

Start:
146,277,764 bp from pter      End:
146,281,416 bp from pter
Size:
3,653 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CH033_HUMAN, Q9H7E9 (See protein sequence)
Recommended Name: UPF0488 protein C8orf33  
Size: 229 amino acids; 24993 Da
Secondary accessions: A6NGC0 Q96BT8
Alternative splicing: 2 isoforms:  Q9H7E9-1   Q9H7E9-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C8orf33: NX_Q9H7E9

Explore proteomics data for C8orf33 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C8orf33 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_075568.1  
    ENSEMBL proteins: 
     ENSP00000330361  

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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: Q9H7E9

    UniProtKB/Swiss-Prot: CH033_HUMAN, Q9H7E9
    Similarity: Belongs to the UPF0488 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Phenotypes:
         1 GenomeRNAi human phenotype for C8orf33:
     Decreased viability with pacli 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C8orf33
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    miRNA
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    miRTarBase miRNAs that target C8orf33:
    hsa-mir-124-3p (MIRT022535), hsa-mir-324-5p (MIRT043235), hsa-mir-23b-3p (MIRT046355), hsa-mir-24-3p (MIRT030514), hsa-mir-744-5p (MIRT037577), hsa-mir-26b-5p (MIRT029314), hsa-mir-222-3p (MIRT046691), hsa-mir-132-3p (MIRT021818)

    Block miRNA regulation of human, mouse, rat C8orf33 using miScript Target Protectors
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C8orf33


    (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
    extracellular1
    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 C8orf33
    Interactions:

        Search GeneGlobe Interaction Network for C8orf33

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    Selected Interacting proteins for C8orf33 (Q9H7E92, 3 ENSP000003303614) via UniProtKB, MINT, STRING, and/or I2D (see all 39)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GIT1Q9Y2X72, 3MINT-65509 MINT-8250418 I2D: score=5 
    HAP1P542572, 3MINT-65507 MINT-8250429 I2D: score=4 
    GPRASP1Q5JY772, 3MINT-65508 I2D: score=4 
    KBTBD7Q8WVZ92, 3MINT-8250453 I2D: score=3 
    AAMPQ136852, 3MINT-8250286 I2D: score=2 
    About this table

    (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 C8orf33 (CH033)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for C8orf33 gene: 
    NM_023080.2  

    Unigene Cluster for C8orf33:

    Chromosome 8 open reading frame 33
    Hs.169615  [show with all ESTs]
    Unigene Representative Sequence: BX648996
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000331434(uc003zfc.4) ENST00000524395 ENST00000534350 ENST00000530455(uc003zfd.3)
    ENST00000529593
    miRNA
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    OriGene qPCR primer pairs and template standards for C8orf33
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat C8orf33
      QuantiTect SYBR Green Assays in human, mouse, rat C8orf33
      QuantiFast Probe-based Assays in human, mouse, rat C8orf33

    Additional mRNA sequence: 

    AF086170.1 AK024642.1 BC010001.2 BC015181.1 BX648996.1 CR457330.1 

    11 DOTS entries:

    DT.449244  DT.97781166  DT.100815650  DT.91742892  DT.100815651  DT.100815652  DT.100815647  DT.95279790 
    DT.91742888  DT.95279785  DT.97824883 

    Selected AceView cDNA sequences (see all 296):

    AI624389 BE468194 R85308 BM747819 AF086170 AA936182 BM917779 AA554563 
    BG254437 BG236259 CB854679 BQ937995 BG419744 BI861598 AI949713 CB215000 
    AW236540 BU677697 AA962653 BC010001 AI343484 BM756522 BU162243 AA311546 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for C8orf33 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c · 5d
    SP1:                                -                                             
    SP2:                                -                                             
    SP3:                                -                                             
    SP4:                                                                              
    SP5:                                -                                             


    ECgene alternative splicing isoforms for C8orf33

    (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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    C8orf33 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGACCTTACC
    C8orf33 Expression
    About this image

    C8orf33 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C8orf33 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.169615
        Custom PCR Arrays for C8orf33
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C8orf33

    (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 C8orf33 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 1110038F14Rik1 , 5 RIKEN cDNA 1110038F14 gene1, 5 81.7(n)1
    77.78(a)1
      15 (36.30 cM)5
    1171711  NM_054099.21  NP_473440.11 
     769485445 
    lizard
    (Anolis carolinensis)
    Reptilia C8orf336
    chromosome 8 open reading frame 33
    42(a)
    1 ↔ 1
    GL344601.1(6561-9404)
    zebrafish
    (Danio rerio)
    Actinopterygii C24H8orf336
    chromosome 8 open reading frame 33
    26(a)
    1 ↔ 1
    24(39184096-39191412) ENSDARG00000038556
    fruit fly
    (Drosophila melanogaster)
    Insecta CG142866
    --
    23(a)
    1 ↔ 1
    3R(14849814-14850575)


    ENSEMBL Gene Tree for C8orf33 (if available)
    TreeFam Gene Tree for C8orf33 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for C8orf33 gene

    C8orf33 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for C8orf33
    PGOHUM00000249120


    (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 C8orf33 (see all 186)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1859456121,2
    C--141391627(+) GCACAA/GTAAGC 1 -- us2k10--------
    rs799898561,2
    C,F--146275892(+) TATAAT/CAGTAA 1 -- us2k11Minor allele frequency- C:0.04WA 118
    rs1165915661,2
    C--146275902(+) AAAAAC/TAGAGC 1 -- us2k10--------
    rs74623031,2
    C,F,H--146275966(+) tatacA/CAGCAT 1 -- us2k125Minor allele frequency- C:0.20NS EA NA WA CSA 2342
    rs1421069771,2
    --146275998(+) AAGAAA/GCATTG 1 -- us2k10--------
    rs1836682911,2
    --146276266(+) TACTGG/TATGCC 1 -- us2k10--------
    rs1886684731,2
    --146276269(+) TGTATA/GCCGCA 1 -- us2k10--------
    rs1141079521,2
    C,F--146276295(+) GTCCCG/ATTTAA 1 -- us2k11Minor allele frequency- A:0.06WA 118
    rs1999308871,2
    C--146276304(+) AAATTC/TTGCGT 1 -- us2k10--------
    rs2000453301,2
    --146276308(+) TCTGC-/GTGTTTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for C8orf33 (146277764 - 146281416 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for C8orf33:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv508533CNV Loss20534489
    dgv7988n71CNV Loss21882294
    nsv891936CNV Gain21882294
    nsv8399CNV Gain18304495
    nsv466025CNV Gain19166990
    nsv824812CNV Gain20364138
    dgv7986n71CNV Gain21882294
    nsv824811CNV Gain20364138
    nsv466024CNV Gain19166990
    dgv2265e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C8orf33
    DNA2.0 Custom Variant and Variant Library Synthesis for C8orf33

    (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.)
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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 C8orf33 gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with C8orf33)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Interactome study suggests multiple cellular functions of hepatoma-derived growth factor (HDGF). (PubMed id 21907836)1 Zhao J....Yang P. (J Proteomics 2011)
    2. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    3. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    4. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    5. A directed protein interaction network for investigating intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (Sci Signal 2011)
    6. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    7. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (Cell 2010)
    8. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (Anal. Chem. 2009)
    9. An empirical framework for binary interactome mapping. (PubMed id 19060904)1 Venkatesan K....Vidal M. (Nat. Methods 2009)
    10. 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)

    (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: 65265 HGNC: 26104 AceView: FLJ20989 Ensembl:ENSG00000182307 euGenes: HUgn65265
    ECgene: C8orf33 H-InvDB: C8orf33

    (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 C8orf33 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 C8orf33 gene:
    Search GeneIP for patents involving C8orf33

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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