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DTNBP1 Gene

protein-coding   GIFtS: 62
GCID: GC06M015470

Dystrobrevin Binding Protein 1

  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
Dystrobrevin Binding Protein 11 2     DBND2
dysbindin-11 2     My0312
Biogenesis Of Lysosome-Related Organelles Complex 1 Subunit 82 3     SDY2
BLOC1S82 3     Biogenesis Of Lysosomal Organelles Complex-1, Subunit 82
BLOC-1 Subunit 82 3     dysbindin2
Hermansky-Pudlak Syndrome 7 Protein2 3     Dysbindin-13
HPS72 5     Dystrobrevin-Binding Protein 13
Biogenesis Of Lysosomal Organelles Complex-11     HPS7 Protein3
Subunit 81     

External Ids:    HGNC: 173281   Entrez Gene: 840622   Ensembl: ENSG000000475797   OMIM: 6071455   UniProtKB: Q96EV83   

Export aliases for DTNBP1 gene to outside databases

Previous GC identifers: GC06M015580 GC06M015631


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DTNBP1 Gene:
This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet
dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis
of lysosome-related organelles complex 1 (BLOC-1), and binds to alpha- and beta-dystrobrevins, which are
components of the dystrophin-associated protein complex (DPC). Mutations in this gene are associated with
Hermansky-Pudlak syndrome type 7. This gene may also be associated with schizophrenia. Multiple transcript
variants encoding distinct isoforms have been identified for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for DTNBP1 Gene:
DTNBP1 (dystrobrevin binding protein 1) is a protein-coding gene. Diseases associated with DTNBP1 include hermansky-pudlak syndrome 7, and hermansky-pudlak syndrome. An important paralog of this gene is DBNDD2.

UniProtKB/Swiss-Prot: DTBP1_HUMAN, Q96EV8
Function: Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related
organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1
complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into
neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be
involved in neurite extension. Associates with the BLOC-2 complex to facilitate the transport of TYRP1
independent of AP-3 function. Plays a role in synaptic vesicle trafficking and in neurotransmitter release. Plays
a role in the regulation of cell surface exposure of DRD2. May play a role in actin cytoskeleton reorganization
and neurite outgrowth. May modulate MAPK8 phosphorylation. Appears to promote neuronal transmission and viability
through regulating the expression of SNAP25 and SYN1, modulating PI3-kinase-Akt signaling and influencing
glutamatergic release. Regulates the expression of SYN1 through binding to its promoter. Modulates prefrontal
cortical activity via the dopamine/D2 pathway

Gene Wiki entry for DTNBP1 (Dysbindin) 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_000006.12  NT_007592.16  NC_018917.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for DTNBP1
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDTNBP1 promoter sequence
   Search Chromatin IP Primers for DTNBP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DTNBP1


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

Entrez Gene cytogenetic band: 6p22.3   Ensembl cytogenetic band:  6p22.3   HGNC cytogenetic band: 6p22.3

DTNBP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DTNBP1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M015470:  view genomic region     (about GC identifiers)

Start:
15,523,032 bp from pter      End:
15,663,289 bp from pter
Size:
140,258 bases      Orientation:
minus 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: DTBP1_HUMAN, Q96EV8 (See protein sequence)
Recommended Name: Dysbindin  
Size: 351 amino acids; 39493 Da
Subunit: Interacts (via its coiled coil domain) with KXD1. Interacts with CMYA5, PI4K2 and RNF151 (By similarity).
Component of the biogenesis of lysosome-related organelles complex 1 (BLOC-1) composed of at least BLOC1S1,
BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. Interacts directly in the complex
with BLOC1S5, BLOC1S6 and SNAPIN/BLOC1S8. The BLOC-1 complex associates with the AP-3 protein complex and
membrane protein cargos. This BLOC-1 complex also associates with the BLOC-2 complex in endosomes. Binds to DTNA
and DTNB but may not be a physiological binding partner (PubMed:16980328). Interacts (isoform 1 and isoform 2
only) with the DNA-dependent protein kinase complex DNA-PK; the interaction phosphorylates DTNBP1 in vitro.
Interacts directly in this complex with XRCC5 and XRCC6. Interacts with AP3M1, AP3B2 and TRIM32. Interacts with
XPO1; the interaction exports DTNBP1 out of the nucleus
Sequence caution: Sequence=AAG43145.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A8K3V3 Q5THY3 Q5THY4 Q96NV2 Q9H0U2 Q9H3J5
Alternative splicing, Alternative initiation: 3 isoforms:  Q96EV8-1   Q96EV8-2   Q96EV8-3   (May be due to intron retention)

Explore the universe of human proteins at neXtProt for DTNBP1: NX_Q96EV8

Explore proteomics data for DTNBP1 at MOPED

Post-translational modifications: 

  • Acetylated in the N-terminal1
  • Ubiquitinated by TRIM32. Ubiquitination leads to DTNBP1 degradation1
  • Isoforms 1 and 2 highly phosphorylated by PRKDC in vitro. Isoform 3 only weakly phosphorylated by PRKDC in vitro1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DTNBP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001258596.1  NP_001258597.1  NP_001258598.1  NP_115498.2  NP_898861.1  

    ENSEMBL proteins: 
     ENSP00000341680   ENSP00000427239   ENSP00000424685   ENSP00000425495   ENSP00000424357  
     ENSP00000421797   ENSP00000344718   ENSP00000424202   ENSP00000427473   ENSP00000348183  
    Reactome Protein details: Q96EV8

    DTNBP1 Human Recombinant Protein Products:

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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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    HGNC Gene Families:
    BLOC1S: Biogenesis of lysosomal organelles complex-1 subunits

    1 InterPro protein domain:
     IPR007531 Dysbindin

    Graphical View of Domain Structure for InterPro Entry Q96EV8

    ProtoNet protein and cluster: Q96EV8

    UniProtKB/Swiss-Prot: DTBP1_HUMAN, Q96EV8
    Similarity: Belongs to the dysbindin family


    DTNBP1 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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DTBP1_HUMAN, Q96EV8
    Function: Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related
    organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1
    complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into
    neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be
    involved in neurite extension. Associates with the BLOC-2 complex to facilitate the transport of TYRP1
    independent of AP-3 function. Plays a role in synaptic vesicle trafficking and in neurotransmitter release. Plays
    a role in the regulation of cell surface exposure of DRD2. May play a role in actin cytoskeleton reorganization
    and neurite outgrowth. May modulate MAPK8 phosphorylation. Appears to promote neuronal transmission and viability
    through regulating the expression of SNAP25 and SYN1, modulating PI3-kinase-Akt signaling and influencing
    glutamatergic release. Regulates the expression of SYN1 through binding to its promoter. Modulates prefrontal
    cortical activity via the dopamine/D2 pathway

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15102850
         
    DTNBP1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for DTNBP1:
     Increased gamma-H2AX phosphory 

         9 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Dtnbp1):
     behavior/neurological  hematopoietic system  homeostasis/metabolism  immune system  integument 
     muscle  pigmentation  renal/urinary system  vision/eye 

    DTNBP1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DTNBP1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DTNBP1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DTNBP1

    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate DTNBP1:
    hsa-miR-182 hsa-miR-342-3p
    SwitchGear 3'UTR luciferase reporter plasmidDTNBP1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): DTNBP1 (NM_032122)
    Sino Biological Human cDNA Clone for DTNBP1
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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
    DTBP1_HUMAN, Q96EV8: Isoform 1: Cytoplasm. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic
    side. Endosome membrane; Peripheral membrane protein; Cytoplasmic side. Melanosome membrane; Peripheral membrane
    protein; Cytoplasmic side. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Endoplasmic
    reticulum (By similarity). Nucleus. Note=Mainly cytoplasmic but shuttles between the cytoplasm and nucleus.
    Exported out of the nucleus via its NES in a XPO1-dependent manner. Nuclear localization is required for
    regulation of the expression of genes such as SYN1. Detected in neuron cell bodies, axons and dendrites. Mainly
    located to the postsynaptic density. Detected at tubulovesicular elements in the vicinity of the Golgi apparatus
    and of melanosomes. Occasionally detected at the membrane of pigmented melanosomes in cultured melanoma cells.
    The BLOC-1 complex associates with the BLOC-2 complex in early endosome-associated tubules
    DTBP1_HUMAN, Q96EV8: Isoform 2: Cytoplasm. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic
    side. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Peripheral membrane protein; Cytoplasmic
    side. Endosome membrane; Peripheral membrane protein; Cytoplasmic side. Melanosome membrane; Peripheral membrane
    protein; Cytoplasmic side (By similarity). Cell junction, synapse, postsynaptic cell membrane. Endoplasmic
    reticulum (By similarity). Nucleus. Note=Shuttles between the cytoplasm and nucleus. Exported out of the nucleus
    via its NES in a XPO1-dependent manner. Nuclear localization is required for regulation of the expression of
    genes such as SYN1. Mainly expressed in the dendritic spine. Predominantly a synaptic vesicle isoform but also
    highly expressed in the nucleus. The BLOC-1 complex associates with the BLOC-2 complex in early
    endosome-associated tubules. Associated with the AP-3 complex at presynaptic terminals
    DTBP1_HUMAN, Q96EV8: Isoform 3: Cytoplasm. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic
    side. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Peripheral membrane protein; Cytoplasmic
    side. Endosome membrane; Peripheral membrane protein; Cytoplasmic side. Melanosome membrane; Peripheral membrane
    protein; Cytoplasmic side (By similarity). Cell junction, synapse, postsynaptic cell membrane. Endoplasmic
    reticulum (By similarity). Note=Exclusivley cytoplasmic. Predominantly found in the postsynaptic density (PSD).
    Little association with synaptic vesicles. The BLOC-1 complex associates with the BLOC-2 complex in early
    endosome-associated tubules. Associated with the AP-3 complex at presynaptic terminals
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol5
    endosome5
    nucleus5
    endoplasmic reticulum4
    plasma membrane4
    lysosome2
    vacuole2

    Gene Ontology (GO): Selected cellular component terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005737cytoplasm ISS--
    GO:0005789endoplasmic reticulum membrane ISS--
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane ----

    DTNBP1 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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    SuperPaths for DTNBP1 About    
    See pathways by source

    SuperPathContained pathways About
    1Clathrin derived vesicle budding
    Clathrin derived vesicle budding0.89
    trans-Golgi Network Vesicle Budding0.89
    Golgi Associated Vesicle Biogenesis0.89
    Membrane Trafficking0.32
    2Neuroscience
    Neuroscience

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for DTNBP1
        Neuroscience


    1 Reactome Pathway for DTNBP1
        Golgi Associated Vesicle Biogenesis



    DTNBP1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DTNBP1
    Interactions:

        GeneGlobe Interaction Network for DTNBP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for DTNBP1 (Q96EV81, 2, 3 ENSP000003416804) via UniProtKB, MINT, STRING, and/or I2D (see all 70)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABI3Q9P2A42, 3, ENSP000002259414MINT-66229 I2D: score=5 STRING: ENSP00000225941
    ARFIP2P533652, 3, ENSP000002545844MINT-66731 I2D: score=5 STRING: ENSP00000254584
    PIK3R1P279862, 3, ENSP000002743354MINT-8111895 I2D: score=3 STRING: ENSP00000274335
    PLCG1P191742, 3, ENSP000002440074MINT-8112483 I2D: score=3 STRING: ENSP00000244007
    BLOC1S2Q6QNY11, 3EBI-465804,EBI-465872 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001956positive regulation of neurotransmitter secretion ISS--
    GO:0006892post-Golgi vesicle-mediated transport TAS--
    GO:0006996organelle organization ----
    GO:0007596blood coagulation IEA--
    GO:0008089anterograde axon cargo transport ISS--

    DTNBP1 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 DTNBP1 (DTBP1)

    3 Novoseek inferred chemical compound relationships for DTNBP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glutamate 37.8 10 15345706 (2), 16407900 (1), 18759551 (1), 19439994 (1) (see all 5)
    dopamine 34.7 5 18988532 (1), 16736033 (1), 20174469 (1), 17989303 (1)
    proline 22 3 19810846 (1), 12685991 (1), 14623361 (1)

    3 PharmGKB related drug/compound annotations for DTNBP1 gene    About this table
    Drug/compound PharmGKB Annotation
    clozapineCA  
    haloperidolCA  
    methamphetamineCA  



    DTNBP1 for compounds           About GeneDecksing



    (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 DTNBP1 gene (5 alternative transcripts): 
    NM_001271667.1  NM_001271668.1  NM_001271669.1  NM_032122.4  NM_183040.2  

    Unigene Cluster for DTNBP1:

    Dystrobrevin binding protein 1
    Hs.571148  [show with all ESTs]
    Unigene Representative Sequence: NR_036448
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000344537(uc003nbm.3) ENST00000462989 ENST00000510395(uc003nbl.3)
    ENST00000515875 ENST00000513680 ENST00000509674 ENST00000338950(uc010jph.3 uc003nbp.3)
    ENST00000506844 ENST00000514651 ENST00000511762 ENST00000355917
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      QuantiTect SYBR Green Assays in human, mouse, rat DTNBP1
      QuantiFast Probe-based Assays in human, mouse, rat DTNBP1

    Additional mRNA sequence: 

    AF061734.1 AF394226.1 AK054593.1 AK290718.1 AK310590.1 AL136637.2 AY265460.1 BC011912.2 
    NR_036448.1 

    11 DOTS entries:

    DT.442927  DT.95165604  DT.100818357  DT.95165606  DT.92429154  DT.121395504  DT.95165605  DT.100022691 
    DT.75102942  DT.92429155  DT.95080770 

    Selected AceView cDNA sequences (see all 129):

    BQ014623 CR603457 BQ071410 BC011912 BG210172 AY265460 BE731233 BM978376 
    AK054593 BG207053 AA055251 CR599171 BG207545 AI264958 BQ899112 BM662329 
    CD366280 AA679082 NM_183040 AA768439 CB305880 CR623452 BM464138 BM708245 

    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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    DTNBP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCGTTGTCT
    DTNBP1 Expression
    About this image


    DTNBP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    DTNBP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DTNBP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.571148

    UniProtKB/Swiss-Prot: DTBP1_HUMAN, Q96EV8
    Tissue specificity: Detected in brain, in neurons and in neuropil. Isoform 1 is expressed in the cerebral cortex,
    and hippocampal frontal (HF). Specific expression in the posterior half of the superior temporal gyrus (pSTG).
    Higher expression of isoform 2 and 3 in the HF than in the pSTG while isoform 1 shows no difference in expression
    in these areas. In the HF, detected in dentate gyrus (DG) and in pyramidal cells of hippocampus CA2 and CA3 (at
    protein level). Expressed in all principal neuronal populations of the HF, namely pyramidal neurons in the
    subiculum and CA1-3, granule cells in the dense cell layer of the DG (DGg), and polymorph cells in the hilus of
    the DG (DGh). Maximal levels in CA2, CA3, and DGh. Isoform 2 not expressed in the cerebral cortex

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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 chordates.

    Orthologs for DTNBP1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dtnbp11 , 5 dystrobrevin binding protein 11, 5 84.01(n)1
    80.81(a)1
      13 (21.73 cM)5
    942451  NM_025772.41  NP_080048.21 
     449220795 
    chicken
    (Gallus gallus)
    Aves DTNBP11 dystrobrevin binding protein 1 76.82(n)
    79.89(a)
      420840  NM_001006372.1  NP_001006372.1 
    lizard
    (Anolis carolinensis)
    Reptilia DTNBP16
    dystrobrevin binding protein 1
    73(a)
    1 ↔ 1
    4(58136071-58241552)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.85382 Xenopus laevis transcribed sequence with weak similarity more 76.56(n)    BJ073566.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc564622 similar to dystrobrevin binding protein 1 76.02(n)   394109  BC049451.1 


    ENSEMBL Gene Tree for DTNBP1 (if available)
    TreeFam Gene Tree for DTNBP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DTNBP1 gene
    DBNDD22  
    1 SIMAP similar gene for DTNBP1 using alignment to 8 protein entries:     DTBP1_HUMAN (see all proteins):
    DBNDD2

    DTNBP1 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 DTNBP1 (see all 2554)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048939451,2
    Cpathogenic115550150(-) TCCAGC/TAGCTC 11 Q * stg10--------
    rs1844091901,2
    --15445020(+) CCCGGC/TGGGGA 4 -- ds5001 int10--------
    rs1880947781,2
    C--15445198(+) TGATAA/CTTACT 4 -- ds5001 int10--------
    rs1929088771,2
    --15445222(+) ATCAAC/TGGAAA 4 -- ds5001 int10--------
    rs1422159961,2
    --15445301(+) TGAAAC/TGGTAG 4 -- ds5001 int10--------
    rs96890631,2
    C,F,H--15445302(+) GAAACG/AGTAGG 4 -- ds5001 int110Minor allele frequency- A:0.03NS EA NA WA 1200
    rs1476825351,2
    --15445376(+) CCACAA/TGCAAC 4 -- ds5001 int10--------
    rs623961401,2
    F--15445386(+) CCTCCT/CGGGGT 4 -- ds5001 int11Minor allele frequency- C:0.00NA 2
    rs1151571731,2
    F--15445395(+) GTGGCC/TCTCAA 4 -- ds5001 int11Minor allele frequency- T:0.02WA 118
    rs1501844941,2
    --15445403(+) CAATGA/GCCTGC 4 -- ds5001 int10--------

    HapMap Linkage Disequilibrium report for DTNBP1 (15523032 - 15663289 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for DTNBP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2464602CNV Deletion19546169
    nsv522265CNV Loss19592680
    nsv428136CNV Gain18775914

    Human Gene Mutation Database (HGMD): DTNBP1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DTNBP1
    DNA2.0 Custom Variant and Variant Library Synthesis for DTNBP1

    (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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    OMIM gene information: 607145   
    OMIM disorders: 181500  614076  
    UniProtKB/Swiss-Prot: DTBP1_HUMAN, Q96EV8
  • Hermansky-Pudlak syndrome 7 (HPS7) [MIM:614076]: A form of Hermansky-Pudlak syndrome, a genetically
    heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet
    storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic
    organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is
    associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. Note=The disease
    is caused by mutations affecting the gene represented in this entry
  • Note=Defects in DTNBP1 are associated with susceptibility to schizophrenia, a mental disorder
    characterized by a breakdown of thought processes and by poor emotional responsiveness. Genetic mutations lead to
    alterations in the glutamatergic transmisssion in the brain and modified Akt signaling (PubMed:15345706). Protein
    levels and expression are reduced in nerve terminals of the hippocampus and there is an increased release of
    glutamate in schizophrenic patients (PubMed:15124027). Levels of isoform 1 are reduced in the pSTG, but not in
    HF, by about 48% in 92% of schizophrenic patients. In the HF, there is an average of 33% reduction in synaptic
    expression of isoform 2 in 67% of cases, and of isoform 3, an average reduction of 35% in 80% of cases. In the
    dorsolateral prefrontal cortex (DLPFC), significant reductions in levels of isoform 3 are observed about 71% of
    schizophrenic patients showed an average reduction of this isoform of about 60% (PubMed:19617633)

  • Selected diseases for DTNBP1 (see all 21):    
    About MalaCards
    hermansky-pudlak syndrome 7    hermansky-pudlak syndrome    schizoaffective disorder    schizophrenia
    platelet storage pool deficiency    bipolar i disorder    substance dependence    oculocutaneous albinism
    bipolar disorder    albinism    duchenne muscular dystrophy    muscular dystrophy
    major depressive disorder    was-related disorders    pulmonary fibrosis    cerebritis
    hypoxia    melanoma    neuronitis    multiple myeloma

    4 diseases from the University of Copenhagen DISEASES database for DTNBP1:
    Schizophrenia     Schizoaffective disorder     Bipolar I disorder     Hermansky-Pudlak syndrome

    DTNBP1 for disorders           About GeneDecksing

    10 Novoseek inferred disease relationships for DTNBP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    schizophrenia 85.4 332 16959423 (7), 15374586 (5), 16513878 (5), 16044171 (5) (see all 96)
    hermansky-pudlak syndrome 73.8 4 16448387 (1), 20015953 (1), 12923531 (1), 17251025 (1)
    bipolar disorder 67.3 22 17433541 (4), 19089808 (2), 15820225 (2), 16538225 (1) (see all 9)
    psychotic 62.3 18 17555717 (3), 16199828 (2), 15211634 (2), 17445278 (1) (see all 8)
    schizoaffective disorder 59.8 2 15362017 (1), 17433541 (1)
    hypofunction 43.2 1 12625025 (1)
    muscular dystrophy duchenne 39.1 1 12878699 (1)
    psychiatric disorder 38.9 2 18663367 (1), 17555717 (1)
    muscular dystrophies 37.3 2 12878699 (1), 16448387 (1)
    major depression 14.5 5 19065121 (2), 15274041 (1)

    GeneTests: DTNBP1
    GeneReviews: DTNBP1
    Genetic Association Database (GAD): DTNBP1
    Human Genome Epidemiology (HuGE) Navigator: DTNBP1 (93 documents)

    Export disorders for DTNBP1 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 DTNBP1 gene, integrated from 10 sources (see all 214):
    (articles sorted by number of sources associating them with DTNBP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. DTNBP1 (dysbindin) gene variants modulate prefrontal brain function in schizophrenic patients--support for the glutamate hypothesis of schizophrenias. (PubMed id 20180862)1, 2, 4 Fallgatter A.J.... Deckert J. (Genes Brain Behav. 2010)
    2. DTNBP1 (Dystrobrevin binding protein 1) and schizophrenia: association evidence in the 3' end of the gene. (PubMed id 17476109)1, 4, 9 Duan J....Gejman P.V. (Hum. Hered. 2007)
    3. Mutation analysis of the human dystrobrevin-binding protein 1 gene in schizophrenic patients. (PubMed id 15374586)1, 4, 9 Liao H.M. and Chen C.H. (Schizophr. Res. 2004)
    4. A reappraisal of the association between Dysbindin (DTNBP1) and schizophrenia in a large combined case-control and family-based sample of German ancestry. (PubMed id 20083391)1, 4, 9 Strohmaier J....Schulze T.G. (Schizophr. Res. 2010)
    5. DTNBP1 is associated with imaging phenotypes in schizophrenia. (PubMed id 19449336)1, 4, 9 Narr K.L....Bilder R.M. (Hum Brain Mapp 2009)
    6. Association study of the dysbindin (DTNBP1) gene in schizophrenia from the Japanese population. (PubMed id 16876895)1, 4, 9 Tochigi M....Sasaki T. (Neurosci. Res. 2006)
    7. Evidence of novel neuronal functions of dysbindin, a susceptibility gene for schizophrenia. (PubMed id 15345706)1, 2, 9 Numakawa T.... Hashimoto R. (Hum. Mol. Genet. 2004)
    8. Dysbindin modulates brain function during visual processing in children. (PubMed id 19631276)1, 4, 9 Mechelli A....McGuire P. (Neuroimage 2010)
    9. Association of the dystrobrevin binding protein 1 gene (DTNBP1) in a bipolar case-control study (BACCS). (PubMed id 19089808)1, 4, 9 Gaysina D....Farmer A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    10. Dysbindin (DTNBP1) and the biogenesis of lysosome-related organelles complex 1 (BLOC-1): main and epistatic gene effects are potential contributors to schizophrenia susceptibility. (PubMed id 17618940)1, 4, 9 Morris D.W....Corvin A.P. (Biol. Psychiatry 2008)

    (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: 84062 HGNC: 17328 AceView: DTNBP1 Ensembl:ENSG00000047579 euGenes: HUgn84062
    ECgene: DTNBP1 H-InvDB: DTNBP1

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for DTNBP1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=DTNBP1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DTNBP1 gene:
    Search GeneIP for patents involving DTNBP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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