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C19orf33 Gene

protein-coding   GIFtS: 41
GCID: GC19P038794

Chromosome 19 Open Reading Frame 33

  See related diseases
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 19 Open Reading Frame 331 2     HAI-2-Related Small Protein2 3
Hepatocyte Growth Factor Activator Inhibitor Type 2-Related Small Protein1 2 3     IMUP2
HAI-2 Related Small Protein1 2     IMUP-12
Immortalization-Upregulated Protein1 2     IMUP-22
H2RSP2 3     Immortalization Up-Regulated Protein2

External Ids:    HGNC: 166681   Entrez Gene: 640732   Ensembl: ENSG000001676447   UniProtKB: Q9GZP83   

Export aliases for C19orf33 gene to outside databases

Previous GC identifers: GC19P043489 GC19P043490 GC19P035242


(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 C19orf33 Gene:
C19orf33 (chromosome 19 open reading frame 33) is a protein-coding gene. Diseases associated with C19orf33 include epiglottitis, and arachnoid cysts. GO annotations related to this gene include double-stranded DNA binding and single-stranded DNA binding. An important paralog of this gene is ENSG00000267748.


(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_000019.10  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the C19orf33 gene promoter:
         GATA-3   Tal-1   Pax-6   NF-E2 p45   GATA-1   GATA-2   E47   CP2   NF-E2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C19orf33

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C19orf33


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

Entrez Gene cytogenetic band: 19q13.2   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.2

C19orf33 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C19orf33 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P038794:  view genomic region     (about GC identifiers)

Start:
38,794,801 bp from pter      End:
38,795,649 bp from pter
Size:
849 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: IMUP_HUMAN, Q9GZP8 (See protein sequence)
Recommended Name: Immortalization up-regulated protein  
Size: 106 amino acids; 10897 Da
Secondary accessions: Q0P6G2 Q96H58 Q9HCR4
Alternative splicing: 2 isoforms:  Q9GZP8-1   Q9GZP8-2   

Explore the universe of human proteins at neXtProt for C19orf33: NX_Q9GZP8

Explore proteomics data for C19orf33 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C19orf33 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_277055.1  
    ENSEMBL proteins: 
     ENSP00000301246   ENSP00000464940  

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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:
     IPR026621 IMUP

    Graphical View of Domain Structure for InterPro Entry Q9GZP8

    ProtoNet protein and cluster: Q9GZP8


    C19orf33 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,
    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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         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003690NOT double-stranded DNA binding IDA11080599
    GO:0003697NOT single-stranded DNA binding IDA11080599
         
    C19orf33 for ontologies           About GeneDecksing


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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 UniProtKB/Swiss-Prot
    IMUP_HUMAN, Q9GZP8: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol1
    extracellular1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA11080599

    C19orf33 for ontologies           About GeneDecksing


    (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 C19orf33
    Interactions:

        Search GeneGlobe Interaction Network for C19orf33

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    C19orf33 for ontologies           About GeneDecksing



    (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 C19orf33 (IMUP)



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for C19orf33 gene: 
    NM_033520.1  

    Unigene Cluster for C19orf33:

    Chromosome 19 open reading frame 33
    Hs.631544  [show with all ESTs]
    Unigene Representative Sequence: BU168045
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000301246(uc002ohu.1 uc002ohv.1) ENST00000588605 ENST00000589986
    ENST00000591852
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat C19orf33
      QuantiFast Probe-based Assays in human, mouse, rat C19orf33

    Additional mRNA sequence: 

    AB038317.1 AB038318.1 AF213678.1 BC008888.2 BC014264.2 BC060319.1 BX648823.1 

    8 DOTS entries:

    DT.87016175  DT.75101399  DT.121483079  DT.91725357  DT.101971176  DT.87016176  DT.100777521  DT.121483074 

    Selected AceView cDNA sequences (see all 1051):

    BI518867 BU163399 BU185767 AA281360 CB126012 BI767224 BU174023 CR609125 
    AI365005 CR609699 AA298398 BU684852 AW629976 W15327 BU608008 AW302465 
    BQ896736 CA488520 CR607672 BE740836 CR618227 BQ083859 CR605387 BM046409 

    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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    C19orf33 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGTTCGACC
    C19orf33 Expression
    About this image


    C19orf33 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Neural Crest (Gastrulation Derivatives)
             PureStem SM30, NCr-fac & Meso-latp Progenitor
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)
             PureStem SM30, NCr-fac & Meso-latp Progenitor
     
     Lung (Respiratory System)
     
     Colon (Gastrointestinal Tract)
     
     Esophagus (Gastrointestinal Tract)
    C19orf33 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C19orf33 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.631544
        Custom PCR Arrays for C19orf33
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C19orf33

    (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 human and mouse.

    Orthologs for C19orf33 gene from 1 species (see representative species )    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 2200002D01Rik5 RIKEN cDNA 2200002D01 gene   --   7 (16.94 cM) 29246561 


    ENSEMBL Gene Tree for C19orf33 (if available)
    TreeFam Gene Tree for C19orf33 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for C19orf33 gene
    ENSG000002677482  

    C19orf33 for paralogs           About GeneDecksing



    (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 C19orf33 (see all 18)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2009268321,2
    C--38792843(+) GATTA-/AGGCGT 1 -- us2k10--------
    rs1378773621,2
    C--38792881(+) ATTTTC/TTTTAG 1 -- us2k10--------
    rs1494923941,2
    C--38792914(+) TGGCTA/GGGCTG 1 -- us2k10--------
    rs1888856461,2
    --38792947(+) TGATCC/TGCCTG 1 -- us2k10--------
    rs753495051,2
    C--38793073(+) GCTTAC/GTGCAG 1 -- us2k13Minor allele frequency- G:0.05NA EA 242
    rs1180146541,2
    C,F--38793136(+) GGAACT/CACAGG 1 -- us2k11Minor allele frequency- C:0.09EA 120
    rs1177377261,2
    F--38793187(+) AGATGG/ATCTCA 1 -- us2k11Minor allele frequency- A:0.02EA 120
    rs48023261,2
    C,A--38793227(+) TGGGCC/TCAAGT 1 -- us2k1 tfbs34Minor allele frequency- T:0.11CSA WA NA EA 359
    rs1439395381,2
    --38793300(+) GCCCAC/TGCTAT 1 -- us2k10--------
    rs48023271,2
    C,F,H--38793319(+) CCCTCG/ATCTTC 1 -- us2k117Minor allele frequency- A:0.14NS EA NA WA 2340

    HapMap Linkage Disequilibrium report for C19orf33 (38794801 - 38795649 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for C19orf33:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv911658CNV Loss21882294
    nsv833822CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C19orf33
    DNA2.0 Custom Variant and Variant Library Synthesis for C19orf33

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    11 diseases for C19orf33:    
    About MalaCards
    epiglottitis    arachnoid cysts    arachnoiditis    cervical squamous cell carcinoma
    pre-eclampsia    eclampsia    hypoxia    endometrial carcinoma
    renal cell carcinoma    cervicitis    squamous cell carcinoma


    C19orf33 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for C19orf33 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 0 1 16809422 (1)


    Export disorders for C19orf33 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 C19orf33 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with C19orf33)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of cDNAs encoding two novel nuclear proteins, IMUP-1 and IMUP-2, upregulated in SV40-immortalized human fibroblasts. (PubMed id 11080599)1, 2, 3, 9 Kim J.K.... Kato S. (Gene 2000)
    2. Identification of hepatocyte growth factor activator inhibitor type 2 (HAI-2)-related small peptide (H2RSP): its nuclear localization and generation of chimeric mRNA transcribed from both HAI-2 and H2RSP genes. (PubMed id 11606055)1, 2, 9 Itoh H.K.... Koono M.R. (Biochem. Biophys. Res. Commun. 2001)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. IMUP-1 and IMUP-2 genes are up-regulated in human ovarian epithelial tumors. (PubMed id 14981917)1, 9 Kim J.K....Cha K.Y. (Anticancer Res. 2003)
    5. Imup-1 and imup-2 overexpression in endometrial carcinoma in Korean and Japanese populations. (PubMed id 18507030)1, 9 Kim S.J....Kim J.K. (Anticancer Res. 2008)
    6. Increased immortalization-upregulated protein 2 (IMUP-2) by hypoxia induces apoptosis of the trophoblast and pre-eclampsia. (PubMed id 20432246)1, 9 Jeon S.Y....Kim G.J. (J. Cell. Biochem. 2010)
    7. Hypoxia-induced downregulation of XIAP in trophoblasts mediates apoptosis via interaction with IMUP-2: implications for placental development during pre-eclampsia. (PubMed id 22886722)1 Jeon S.Y....Kim G.J. (J. Cell. Biochem. 2013)
    8. 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)
    9. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    10. Clinical relevance of hepsin and hepatocyte growth factor activator inhibitor type 2 expression in renal cell carcinoma. (PubMed id 17309599)1 Betsunoh H....Kataoka H. (Cancer Sci. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 64073 HGNC: 16668 AceView: SPINT2andC19orf33 Ensembl:ENSG00000167644 euGenes: HUgn64073
    ECgene: C19orf33 H-InvDB: C19orf33

    (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 C19orf33 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for C19orf33 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for C19orf33 gene:
    Search GeneIP for patents involving C19orf33

    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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