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DPCR1 Gene

protein-coding   GIFtS: 46
GCID: GC06P030908

Diffuse Panbronchiolitis Critical Region 1

  See DPCR1-related disease
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
Diffuse Panbronchiolitis Critical Region 11 2
PBLT2 3
C6orf373 5
Diffuse Panbronchiolitis Critical Region Protein 12

External Ids:    HGNC: 216661   Entrez Gene: 1356562   Ensembl: ENSG000001686317   OMIM: 6139285   UniProtKB: Q3MIW93   

Export aliases for DPCR1 gene to outside databases

Previous GC identifers: GC06P030975 GC06P030689 GC06P031025 GC06P031026


(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 DPCR1 Gene:
DPCR1 (diffuse panbronchiolitis critical region 1) is a protein-coding gene. Diseases associated with DPCR1 include diffuse panbronchiolitis.


(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_000006.11  NC_018917.2  NT_007592.16  NT_113891.3  NT_167245.2  NT_167247.2  NT_167248.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DPCR1 gene promoter:
         Max1   POU2F2 (Oct-2.1)   Oct-B1   oct-B3   oct-B2   POU2F2   POU2F2C   POU2F1   POU2F1a   POU2F2B   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDPCR1 promoter sequence
   Search Chromatin IP Primers for DPCR1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DPCR1


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

Entrez Gene cytogenetic band: 6p21.33   Ensembl cytogenetic band:  6p21.33   HGNC cytogenetic band: 6p21.32

DPCR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DPCR1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P030908:  view genomic region     (about GC identifiers)

Start:
30,908,749 bp from pter      End:
30,921,998 bp from pter
Size:
13,250 bases      Orientation:
plus strand

4 alternative locations:
Chr6+,NT_167247 2,290,718-2,300,849      Chr6+,NT_113891.2 2,420,690-2,433,901      Chr6+,NT_167248 2,201,750-2,214,969     
Chr6+,NT_167245 2,202,893-2,216,112     

(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: DPCR1_HUMAN, Q3MIW9 (See protein sequence)
Recommended Name: Diffuse panbronchiolitis critical region protein 1 precursor  
Size: 517 amino acids; 56347 Da
Developmental stage: Expressed in fetal heart, kidney and lung
Sequence caution: Sequence=CAH56248.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=CAI18455.2; Type=Erroneous gene model prediction;
Secondary accessions: C9IZC0 Q658M7 Q8WYN2
Alternative splicing: 2 isoforms:  Q3MIW9-1   Q3MIW9-2   

Explore the universe of human proteins at neXtProt for DPCR1: NX_Q3MIW9

Explore proteomics data for DPCR1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn88, Asn124, Asn338
  • Modification sites at PhosphoSitePlus

  • See DPCR1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_543146.2  
    ENSEMBL proteins: 
     ENSP00000417182   ENSP00000305948  

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    antibodies-online kits for DPCR1 (4 products) 


    (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:
     IPR026623 DPCR1

    Graphical View of Domain Structure for InterPro Entry Q3MIW9

    ProtoNet protein and cluster: Q3MIW9


    Find genes that share domains with DPCR1           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 DPCR1

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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
    DPCR1_HUMAN, Q3MIW9: Membrane; Single-pass type I membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    plasma membrane2
    extracellular1
    mitochondrion1
    nucleus1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with DPCR1           About GenesLikeMe


    (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 DPCR1
    Interactions:

        Search GeneGlobe Interaction Network for DPCR1

    (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 DPCR1



    (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 DPCR1 gene: 
    NM_080870.3  

    Unigene Cluster for DPCR1:

    Diffuse panbronchiolitis critical region 1
    Hs.631993  [show with all ESTs]
    Unigene Representative Sequence: NM_080870
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000462446 ENST00000304311(uc003nsg.2)
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    Additional mRNA sequence: 

    AB064272.1 AL833738.1 BC069477.1 BC101661.1 BC101663.1 

    1 DOTS entry:

    DT.75101343 

    Selected AceView cDNA sequences (see all 26):

    BM843380 NM_080870 AW242183 AI935914 AI572077 AA295496 AB064272 AW192178 
    AW473496 AW867076 AW338320 AW338885 BM823174 BC069477 AI813778 AL833738 
    AI679178 AI922735 BM818258 AI590371 BF375320 AI263291 AW190911 AI674906 

    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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    DPCR1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTATAAAGG
    DPCR1 Expression
    About this image

    DPCR1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DPCR1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.631993

    UniProtKB/Swiss-Prot: DPCR1_HUMAN, Q3MIW9
    Tissue specificity: Detected in lung, esophagus, stomach, rectum, skin, cervix, testis, kidney, uterus and small
    intestine

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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 human and mouse.

    Orthologs for DPCR1 gene from Selected species (see all 4)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dpcr11 , 5 diffuse panbronchiolitis critical region 1 (human)1, 5 61.07(n)1
    43.49(a)1
      17 (18.70 cM)5
    2689491  NM_001033366.31  NP_001028538.11 
     356357525 


    ENSEMBL Gene Tree for DPCR1 (if available)
    TreeFam Gene Tree for DPCR1 (if available)

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

    (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 DPCR1 (see all 308)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1147782571,2
    C,F--30906948(+) GGAAGG/CGGGTG 1 -- us2k11Minor allele frequency- C:0.03NA 120
    rs1825239291,2
    --30907092(+) TGGCCC/TCTACC 1 -- us2k10--------
    rs69334001,2
    C,F,A,H--30907176(+) GTGGGC/TAAAAT 1 -- us2k130Minor allele frequency- N:0.00NS EA NA WA CSA 3448
    rs1872513211,2
    --30907221(+) CTTGGG/TTCCCT 1 -- us2k10--------
    rs1475772201,2
    C--30907238(+) GGGGG-/C/GGGGGG 1 -- us2k10--------
    rs1163117401,2
    C,F--30907240(+) GGGGGG/CGGGGA 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs1157661341,2
    F--30907246(+) GGGGAA/GGGGGA 1 -- us2k11Minor allele frequency- G:0.09WA 118
    rs69339091,2
    C,F,A,H--30907266(+) AGGGGG/AACTGT 1 -- us2k123Minor allele frequency- A:0.19NS EA WA NA CSA 2933
    rs1907773671,2
    --30907269(+) GGGACG/TGTCAG 1 -- us2k10--------
    rs31319211,2
    C,F,H--30907335(-) CCTGCA/GGGATG 1 -- us2k118Minor allele frequency- G:0.10NS EA NA WA 2342

    HapMap Linkage Disequilibrium report for DPCR1 (30908749 - 30921998 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for DPCR1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2670269CNV Deletion23128226
    esv2731791CNV Deletion23290073
    nsv462744CNV Loss19166990
    nsv823473CNV Loss20364138
    nsv525438CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
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    (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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    OMIM gene information: 613928    OMIM disorders: --

    1 disease for DPCR1:    
    About MalaCards
    diffuse panbronchiolitis


    Find genes that share disorders with DPCR1           About GenesLikeMe

    Genetic Association Database (GAD): DPCR1
    Human Genome Epidemiology (HuGE) Navigator: DPCR1 (2 documents)

    Export disorders for DPCR1 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 DPCR1 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with DPCR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of novel candidate genes in the diffuse panbronchiolitis critical region of the class I human MHC. (PubMed id 12185533)1, 2, 3 Matsuzaka Y.... Inoko H. (Immunogenetics 2002)
    2. Common genetic variation and the control of HIV-1 in humans. (PubMed id 20041166)1, 4 Fellay J....Goldstein D.B. (PLoS Genet. 2009)
    3. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PubMed id 19851445)1, 4 Barcellos L.F....Criswell L.A. (PLoS Genet. 2009)
    4. Rapid evolution of major histocompatibility complex class I genes in primates generates new disease alleles in humans via hitchhiking diversity. (PubMed id 16702430)1, 2 Shiina T.... Bahram S. (Genetics 2006)
    5. Fine localization of a major disease-susceptibility locus for diffuse panbronchiolitis. (PubMed id 10677310)1, 3 Keicho N....Kudoh S. (Am. J. Hum. Genet. 2000)
    6. Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. (PubMed id 23453885)1 (Lancet 2013)
    7. Effect of diffuse panbronchiolitis critical region 1 polymorphisms on the risk of aspirin-exacerbated respiratory disease in Korean asthmatics. (PubMed id 22152429)1 Lee J.S....Shin H.D. (Respir Care 2012)
    8. Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. (PubMed id 23284291)1 Hancock D.B....London S.J. (PLoS Genet. 2012)
    9. 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)
    10. Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with BehAset's disease. (PubMed id 20622878)4 Remmers E.F....GA1l A. (Nat. Genet. 2010)

    (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: 135656 HGNC: 21666 AceView: DPCR1 Ensembl:ENSG00000168631 euGenes: HUgn135656
    ECgene: DPCR1 H-InvDB: DPCR1

    (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 DPCR1 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 DPCR1 gene:
    Search GeneIP for patents involving DPCR1

    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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     Block miRNA regulation of human, mouse, rat DPCR1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing DPCR1
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     Custom PCR Arrays for DPCR1 Search Chromatin IP Primers for DPCR1
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     Search for Antibodies & Assays

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     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DPCR1
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     genOway: Develop your customized and physiologically relevant rodent model for DPCR1
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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 , 7 Oct 2014

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