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Aliases for DTNBP1 Gene

Aliases for DTNBP1 Gene

  • Dystrobrevin Binding Protein 1 2 3 5
  • Dysbindin-1 2 3 4
  • Biogenesis Of Lysosome-Related Organelles Complex 1 Subunit 8 3 4
  • Biogenesis Of Lysosomal Organelles Complex-1, Subunit 8 2 3
  • Hermansky-Pudlak Syndrome 7 Protein 3 4
  • BLOC-1 Subunit 8 3 4
  • BLOC1S8 3 4
  • Dystrobrevin-Binding Protein 1 4
  • HPS7 Protein 4
  • Dysbindin 3
  • My031 3
  • DBND 3
  • HPS7 3
  • SDY 3

External Ids for DTNBP1 Gene

Previous GeneCards Identifiers for DTNBP1 Gene

  • GC06M015580
  • GC06M015631

Summaries for DTNBP1 Gene

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 1. Among its related pathways are Vesicle-mediated transport and Neuroscience. An important paralog of this gene is DBNDD2.

UniProtKB/Swiss-Prot for DTNBP1 Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DTNBP1 Gene

Genomics for DTNBP1 Gene

Regulatory Elements for DTNBP1 Gene

Enhancers for DTNBP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F015661 0.8 ENCODE 11.7 +0.4 360 1.9 HDGF ARID4B SIN3A DMAP1 ZNF2 ZNF143 KLF13 SP3 SP5 MXD4 DTNBP1 LOC105374947
GH06F015612 1.4 Ensembl ENCODE 10.5 +50.1 50104 0.7 HDGF TBP HDAC1 BMI1 CHAMP1 ZNF766 POLR3A EGR1 USF2 NCOA1 DTNBP1 LOC105374947
GH06F015628 0.7 Ensembl ENCODE 10.1 +34.4 34358 1.4 HDGF BRD4 HDAC1 ESRRA LEF1 ATF1 TBL1XR1 GTF2E2 JUN ZMYM3 DTNBP1 JARID2 LOC105374947
GH06F015621 1.5 FANTOM5 Ensembl ENCODE 9.9 +40.6 40642 2.8 HDGF PKNOX1 ATF1 ARNT ZNF766 CBX5 GATA2 ZNF143 KLF13 ZNF263 JARID2 JARID2-AS1 DTNBP1 LOC105374947
GH06F015595 1.3 Ensembl ENCODE 9.9 +67.2 67158 1.8 ZNF362 PKNOX1 NR2F1 CEBPB CEBPG FOSL1 ATF3 IKZF1 FOXP2 FOS DTNBP1 JARID2 LOC105374947
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around DTNBP1 on UCSC Golden Path with GeneCards custom track

Promoters for DTNBP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001493487 358 1801 HDGF ARID4B SIN3A DMAP1 ZNF2 ZNF143 KLF13 SP5 MXD4 REST

Genomic Location for DTNBP1 Gene

Chromosome:
6
Start:
15,522,801 bp from pter
End:
15,663,058 bp from pter
Size:
140,258 bases
Orientation:
Minus strand

Genomic View for DTNBP1 Gene

Genes around DTNBP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DTNBP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DTNBP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DTNBP1 Gene

Proteins for DTNBP1 Gene

  • Protein details for DTNBP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96EV8-DTBP1_HUMAN
    Recommended name:
    Dysbindin
    Protein Accession:
    Q96EV8
    Secondary Accessions:
    • A8K3V3
    • Q5THY3
    • Q5THY4
    • Q96NV2
    • Q9H0U2
    • Q9H3J5

    Protein attributes for DTNBP1 Gene

    Size:
    351 amino acids
    Molecular mass:
    39493 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAG43145.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for DTNBP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DTNBP1 Gene

Post-translational modifications for DTNBP1 Gene

  • Isoforms 1 and 2 highly phosphorylated by PRKDC in vitro. Isoform 3 only weakly phosphorylated by PRKDC in vitro.
  • Ubiquitinated by TRIM32. Ubiquitination leads to DTNBP1 degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for DTNBP1 (DTNBP1)

No data available for DME Specific Peptides for DTNBP1 Gene

Domains & Families for DTNBP1 Gene

Gene Families for DTNBP1 Gene

Protein Domains for DTNBP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DTNBP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96EV8

UniProtKB/Swiss-Prot:

DTBP1_HUMAN :
  • Belongs to the dysbindin family.
Family:
  • Belongs to the dysbindin family.
genes like me logo Genes that share domains with DTNBP1: view

Function for DTNBP1 Gene

Molecular function for DTNBP1 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for DTNBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15102850
genes like me logo Genes that share ontologies with DTNBP1: view
genes like me logo Genes that share phenotypes with DTNBP1: view

Human Phenotype Ontology for DTNBP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DTNBP1 Gene

MGI Knock Outs for DTNBP1:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for DTNBP1 Gene

Localization for DTNBP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DTNBP1 Gene

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. 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.
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. Cell junction, synapse, postsynaptic cell membrane. Endoplasmic reticulum. 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.
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. Cell junction, synapse, postsynaptic cell membrane. Endoplasmic reticulum. 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
Jensen Localization Image for DTNBP1 Gene COMPARTMENTS Subcellular localization image for DTNBP1 gene
Compartment Confidence
cytosol 5
nucleus 5
plasma membrane 5
cytoskeleton 4
endoplasmic reticulum 4
endosome 4
lysosome 2
vacuole 2

Gene Ontology (GO) - Cellular Components for DTNBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm IEA,ISS --
GO:0005768 endosome IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane ISS --
genes like me logo Genes that share ontologies with DTNBP1: view

Pathways & Interactions for DTNBP1 Gene

genes like me logo Genes that share pathways with DTNBP1: view

Pathways by source for DTNBP1 Gene

Gene Ontology (GO) - Biological Process for DTNBP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001956 positive regulation of neurotransmitter secretion ISS --
GO:0006996 organelle organization IEA --
GO:0007596 blood coagulation IEA --
GO:0008089 anterograde axonal transport ISS --
GO:0010628 positive regulation of gene expression ISS --
genes like me logo Genes that share ontologies with DTNBP1: view

No data available for SIGNOR curated interactions for DTNBP1 Gene

Drugs & Compounds for DTNBP1 Gene

(6) Drugs for DTNBP1 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Citalopram Approved Pharma 503
Clozapine Approved Pharma Antagonist Antipsychotic medication 114
Haloperidol Approved Pharma Antagonist Antipsychotic drug 141
Methamphetamine Approved, Illicit Pharma 232

(1) Additional Compounds for DTNBP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DTNBP1: view

Transcripts for DTNBP1 Gene

Unigene Clusters for DTNBP1 Gene

Dystrobrevin binding protein 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DTNBP1 Gene

No ASD Table

Relevant External Links for DTNBP1 Gene

GeneLoc Exon Structure for
DTNBP1
ECgene alternative splicing isoforms for
DTNBP1

Expression for DTNBP1 Gene

mRNA expression in normal human tissues for DTNBP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DTNBP1 Gene

This gene is overexpressed in Lymph node (13.7) and Peripheral blood mononuclear cells (10.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DTNBP1 Gene



Protein tissue co-expression partners for DTNBP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of DTNBP1 Gene:

DTNBP1

SOURCE GeneReport for Unigene cluster for DTNBP1 Gene:

Hs.571148

mRNA Expression by UniProt/SwissProt for DTNBP1 Gene:

Q96EV8-DTBP1_HUMAN
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.
genes like me logo Genes that share expression patterns with DTNBP1: view

Primer Products

No data available for mRNA differential expression in normal tissues for DTNBP1 Gene

Orthologs for DTNBP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DTNBP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DTNBP1 34
  • 99.26 (n)
cow
(Bos Taurus)
Mammalia DTNBP1 34 35
  • 86.79 (n)
dog
(Canis familiaris)
Mammalia DTNBP1 34 35
  • 85.43 (n)
mouse
(Mus musculus)
Mammalia Dtnbp1 34 16 35
  • 84.01 (n)
rat
(Rattus norvegicus)
Mammalia Dtnbp1 34
  • 83.24 (n)
oppossum
(Monodelphis domestica)
Mammalia DTNBP1 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DTNBP1 35
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves DTNBP1 34 35
  • 76.82 (n)
lizard
(Anolis carolinensis)
Reptilia DTNBP1 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dtnbp1 34
  • 73.52 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.8538 34
zebrafish
(Danio rerio)
Actinopterygii dtnbp1a 34 35
  • 69.08 (n)
dtnbp1b 35
  • 52 (a)
OneToMany
zgc56462 34
Species where no ortholog for DTNBP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DTNBP1 Gene

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

Paralogs for DTNBP1 Gene

Paralogs for DTNBP1 Gene

(1) SIMAP similar genes for DTNBP1 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with DTNBP1: view

Variants for DTNBP1 Gene

Sequence variations from dbSNP and Humsavar for DTNBP1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs104893945 Pathogenic 15,627,391(-) TCCAG(C/T)AGCTC nc-transcript-variant, reference, stop-gained
rs727502866 Pathogenic 15,637,789(-) ACATG(A/G)GCTGC nc-transcript-variant, reference, stop-gained, utr-variant-5-prime
rs146546977 Likely benign 15,615,268(+) TCACC(G/T)CTTAT nc-transcript-variant, reference, synonymous-codon
rs16876569 Likely benign 15,524,430(+) TTATG(C/T)GTAAG intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense
rs16876738 Likely benign 15,627,322(+) ATGTA(C/G)AATGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DTNBP1 Gene

Variant ID Type Subtype PubMed ID
dgv1167e214 CNV gain 21293372
esv2464602 CNV deletion 19546169
esv3608175 CNV gain 21293372
nsv428136 CNV gain 18775914
nsv522265 CNV loss 19592680

Variation tolerance for DTNBP1 Gene

Residual Variation Intolerance Score: 39.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.65; 65.73% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DTNBP1 Gene

Human Gene Mutation Database (HGMD)
DTNBP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DTNBP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DTNBP1 Gene

Disorders for DTNBP1 Gene

MalaCards: The human disease database

(9) MalaCards diseases for DTNBP1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hermansky-pudlak syndrome 7
  • hps 7
hermansky-pudlak syndrome 1
  • platelet storage pool deficiency
schizophrenia
  • schizophrenia 12
bipolar i disorder
psychotic disorder
  • mental or behavioural disorder
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DTBP1_HUMAN
  • 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. {ECO:0000269 PubMed:12923531}. 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 transmission 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). {ECO:0000269 PubMed:15124027, ECO:0000269 PubMed:15345706, ECO:0000269 PubMed:19617633}.

Relevant External Links for DTNBP1

Genetic Association Database (GAD)
DTNBP1
Human Genome Epidemiology (HuGE) Navigator
DTNBP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DTNBP1
genes like me logo Genes that share disorders with DTNBP1: view

No data available for Genatlas for DTNBP1 Gene

Publications for DTNBP1 Gene

  1. The impact of dystrobrevin-binding protein 1 (DTNBP1) on neural correlates of episodic memory encoding and retrieval. (PMID: 19621369) Thimm M. … Kircher T. (Hum Brain Mapp 2010) 3 22 46 64
  2. No association of dysbindin with symptom factors of schizophrenia in an Irish case-control sample. (PMID: 19760674) Bergen S.E. … Kendler K.S. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 3 22 46 64
  3. Mutation screening of the DTNBP1 exonic sequence in 669 schizophrenics and 710 controls using high-resolution melting analysis. (PMID: 19859905) Dwyer S. … Williams N.M. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 3 22 46 64
  4. A reappraisal of the association between Dysbindin (DTNBP1) and schizophrenia in a large combined case-control and family-based sample of German ancestry. (PMID: 20083391) Strohmaier J. … Schulze T.G. (Schizophr. Res. 2010) 3 22 46 64
  5. DTNBP1 (dysbindin) gene variants modulate prefrontal brain function in schizophrenic patients--support for the glutamate hypothesis of schizophrenias. (PMID: 20180862) Fallgatter A.J. … Deckert J. (Genes Brain Behav. 2010) 3 4 46 64

Products for DTNBP1 Gene

Sources for DTNBP1 Gene

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