DTNBP1 Gene
protein-coding GIFtS: 61
GCID: GC06M015470
|
|
dystrobrevin binding protein 1
| |
Aliases
for DTNBP1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA
Quality score for the ORGUL clustered with this gene is 3
| Aliases |
|---|
| Dystrobrevin Binding Protein 11 2 | | Dysbindin1 | | BLOC1S81 2 3 | | SDY2 | | HPS71 2 5 | | Biogenesis Of Lysosomal Organelles Complex-1, Subunit 82 | | DBND1 2 | | Dysbindin1 | | My0311 2 | | Dysbindin-13 | | Biogenesis Of Lysosome-Related Organelles Complex 1 Subunit 82 3 | | Dysbindin-13 | | BLOC-1 Subunit 82 3 | | Dystrobrevin-Binding Protein 13 | | Hermansky-Pudlak Syndrome 7 Protein2 3 | | HPS7 Protein3 |
| External Ids: | HGNC: 173281 | Entrez Gene: 840622 | Ensembl: ENSG000000475797 | OMIM: 6071455 | UniProtKB: Q96EV83 |
|---|
| | ORGUL members: | |
|---|
| NONCODE:n410020 | |
Export aliases for DTNBP1 gene to outside databasesPrevious GC identifers: GC06M015580 GC06M015631
Summaries
for DTNBP1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for DTNBP1:
This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet densegranules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis oflysosome-related organelles complex 1 (BLOC-1), and binds to alpha- and beta-dystrobrevins, which are components ofthe dystrophin-associated protein complex (DPC). Mutations in this gene are associated with Hermansky-Pudlak syndrometype 7. This gene may also be associated with schizophrenia. Multiple transcript variants encoding distinct isoformshave been identified for this gene. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: DTBP1_HUMAN, Q96EV8Function: Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-relatedorganelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery intoneurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involvedin neurite extension. Associates with the BLOC-2 complex to facilitate the transport of TYRP1 independent of AP-3function. Plays a role in synaptic vesicle trafficking and in neurotransmitter release. Plays a role in the regulationof cell surface exposure of DRD2. May play a role in actin cytoskeleton reorganization and neurite outgrowth. Maymodulate MAPK8 phosphorylation. Appears to promote neuronal transmission and viability through regulating theexpression of SNAP25 and SYN1, modulating PI3-kinase-Akt signaling and influencing glutamatergic release. Regulatesthe expression of SYN1 through binding to its promoter. Modulates prefrontal cortical activity via the dopamine/D2pathway
Gene Wiki entry for DTNBP1 (Dysbindin)
|
Genomic Views
for DTNBP1 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000006.11 NC_018917.1 NT_007592.15
Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for DTNBP1
Other transcription factors
Search SABiosciences Chromatin IP Primers for DTNBP1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 6p22.3DTNBP1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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 |
|
Proteins
for DTNBP1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
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 aphysiological binding partner (PubMed:16980328). Interacts (isoform 1 and isoform 2 only) with the DNA-dependentprotein kinase complex DNA-PK; the interaction phosphorylates DTNBP1 in vitro. Interacts directly in this complex withXRCC5 and XRCC6. Interacts with AP3M1, AP3B2 and TRIM32. Interacts with XPO1; the interaction exports DTNBP1 out ofthe nucleus
Subcellular location: Isoform 1: Cytoplasm. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmicside. Endosome membrane; Peripheral membrane protein; Cytoplasmic side. Melanosome membrane; Peripheral membraneprotein; Cytoplasmic side. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Endoplasmicreticulum (By similarity). Nucleus. Note=Mainly cytoplasmic but shuttles between the cytoplasm and nucleus. Exportedout of the nucleus via its NES in a XPO1-dependent manner. Nuclear localization is required for regulation of theexpresssion of genes such as SYN1. Detected in neuron cell bodies, axons and dendrites. Mainly located to thepostsynaptic 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 complexassociates with the BLOC-2 complex in early endosome-associated tubules
Subcellular location: Isoform 2: Cytoplasm. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmicside. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Peripheral membrane protein; Cytoplasmicside. Endosome membrane; Peripheral membrane protein; Cytoplasmic side. Melanosome membrane; Peripheral membraneprotein; 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 ina XPO1-dependent manner. Nuclear localization is required for regulation of the expresssion of genes such as SYN1.Mainly expressed in the dendritic spine. Predominantly a synaptic vesicle isoform but also highly expressed in thenucleus. The BLOC-1 complex associates with the BLOC-2 complex in early endosome-associated tubules. Associated withthe AP-3 complex at presynaptic terminals
Subcellular location: Isoform 3: Cytoplasm. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmicside. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Peripheral membrane protein; Cytoplasmicside. Endosome membrane; Peripheral membrane protein; Cytoplasmic side. Melanosome membrane; Peripheral membraneprotein; Cytoplasmic side (By similarity). Cell junction, synapse, postsynaptic cell membrane. Endoplasmic reticulum(By similarity). Note=Exclusivley cytoplasmic. Predominantly found in the postsynaptic density (PSD). Littleassociation with synaptic vesicles. The BLOC-1 complex associates with the BLOC-2 complex in early endosome-associatedtubules. Associated with the AP-3 complex at presynaptic terminals
Sequence caution: Sequence=AAG43145.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: A8K3V3 Q5THY3 Q5THY4 Q96NV2 Q9H0U2 Q9H3J5Alternative 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
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
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96EV8
DTNBP1 Protein expression data from MOPED and PaxDb: About this image 
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 ENSP00000427473 ENSP00000344718 ENSP00000424202 ENSP00000348183 Reactome Protein details: Q96EV8
Human Recombinant Protein Products:
Gene Ontology (GO): 5/20 cellular component terms (GO ID links to tree view) (see all 20): About this table
DTNBP1 for ontologies About GeneDecksing
DTNBP1 Antibody Products:
Assay Products for DTNBP1: |
Protein
Domains /
Families
for DTNBP1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DTNBP1 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q96EV8ProtoNet protein and cluster: Q96EV8 UniProtKB/Swiss-Prot: DTBP1_HUMAN, Q96EV8Similarity: Belongs to the dysbindin family |
Function
for DTNBP1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: DTBP1_HUMAN, Q96EV8Function: Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-relatedorganelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery intoneurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involvedin neurite extension. Associates with the BLOC-2 complex to facilitate the transport of TYRP1 independent of AP-3function. Plays a role in synaptic vesicle trafficking and in neurotransmitter release. Plays a role in the regulationof cell surface exposure of DRD2. May play a role in actin cytoskeleton reorganization and neurite outgrowth. Maymodulate MAPK8 phosphorylation. Appears to promote neuronal transmission and viability through regulating theexpression of SNAP25 and SYN1, modulating PI3-kinase-Akt signaling and influencing glutamatergic release. Regulatesthe expression of SYN1 through binding to its promoter. Modulates prefrontal cortical activity via the dopamine/D2pathway
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DTNBP1 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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Synthesis Service for DTNBP1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DTNBP1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DTNBP1 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005515 | protein binding |
IPI | -- |
DTNBP1 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for DTNBP1:
Animal Models:
9 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Dtnbp1):
DTNBP1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for DTNBP1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Clathrin derived vesicle budding | | | 2 | Neuroscience | | | 3 | Membrane Trafficking | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1 
Cell Signaling Technology (CST) Pathway for DTNBP1
4 
Reactome Pathways for DTNBP1
DTNBP1 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DTNBP1
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/66 Interacting proteins for DTNBP1 (Q96EV81, 2, 3 ENSP000003416804) via UniProtKB, MINT, STRING, and/or I2D (see all 66)| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| ABI3 | Q9P2A42, 3, ENSP000002259414 | MINT-66229 I2D:
score=5 STRING: ENSP00000225941 | | ARFIP2 | P533652, 3, ENSP000002545844 | MINT-66731 I2D:
score=5 STRING: ENSP00000254584 | | PIK3R1 | P279862, 3, ENSP000002743354 | MINT-8111895 I2D:
score=3 STRING: ENSP00000274335 | | PLCG1 | P191742, 3, ENSP000002440074 | MINT-8112483 I2D:
score=3 STRING: ENSP00000244007 | | BLOC1S2 | Q6QNY11, 3 | EBI-465804,EBI-465872 I2D:
score=2 |
About this table
Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0001956 | positive regulation of neurotransmitter secretion |
ISS | -- | | GO:0006892 | post-Golgi vesicle-mediated transport |
TAS | -- | | GO:0006996 | organelle organization |
-- | -- | | GO:0007596 | blood coagulation |
IEA | -- | | GO:0008089 | anterograde axon cargo transport |
ISS | -- |
DTNBP1 for ontologies About GeneDecksing
|
Drugs & Compounds
for DTNBP1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
DTNBP1 for compounds About GeneDecksing
 Browse Tocris compounds for DTNBP1
3 Novoseek chemical compound relationships for DTNBP1 gene About this table
3 PharmGKB related drug/compound annotations for DTNBP1 geneAbout this table
Search CenterWatch for drugs/clinical trials and news about DTNBP1 / DTBP1
|
Transcripts
for DTNBP1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
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_03644811 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000344537(uc003nbm.3) ENST00000462989 ENST00000510395(uc003nbl.3)
ENST00000515875 ENST00000513680 ENST00000509674 ENST00000511762 ENST00000338950(uc010jph.3 uc003nbp.3)
ENST00000506844 ENST00000514651 ENST00000355917
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DTNBP1 (see all 5)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DTNBP1 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): DTNBP1 (NM_032122) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DTNBP1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DTNBP1 |
Additional cDNA 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 24/129 AceView cDNA sequences (see all 129): BG207545 BM464138 AA614696 AI264958 CR599171 AY265460 BM661687 BQ071410 BC011912 CR623452 AW137237 BQ014623 AA890514 AI982597 AF061734 BE731233 CA777478 AK054593 CR603457 AA443420 NM_032122 AA055251 NM_183041 CB305880
GeneLoc Exon Structure
|
Expression
for DTNBP1 gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| DTNBP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGCGTTGTCT
About this image
See DTNBP1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DTNBP1
SOURCE GeneReport for Unigene cluster: Hs.571148
UniProtKB/Swiss-Prot: DTBP1_HUMAN, Q96EV8Tissue specificity: Detected in brain, in neurons and in neuropil. Isoform 1 is expressed in the cerebral cortex, andhippocampal frontal (HF). Specific expression in the posterior half of the superior temporal gyrus (pSTG). Higherexpression of isoform 2 and 3 in the HF than in the pSTG while isoform 1 shows no difference in expression in theseareas. 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). Maximallevels in CA2, CA3, and DGh. Isoform 2 not expressed in the cerebral cortex
SABiosciences Custom PCR Arrays for DTNBP1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DTNBP1
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DTNBP1 |
Orthologs
for DTNBP1 gene
(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)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for DTNBP1 gene from 5/16 species (see all 16) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
DTNBP11 |
dystrobrevin binding protein 1 |
76.92(n)
79.89(a) |
|
420840 NM_001006372.1 NP_001006372.1 |
lizard
(Anolis carolinensis) |
Reptilia |
DTNBP16 |
-- |
73(a) |
1 ↔ 1 |
4(58164030-58241238) |
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 |
fruit fly
(Drosophila melanogaster) |
Insecta |
dysb1 |
dysbindin |
47.55(n)
29.86(a) |
|
40052 NM_140807.3 NP_649064.1 |
ENSEMBL Gene Tree for DTNBP1 (if available)
TreeFam Gene Tree for DTNBP1 (if available) |
Paralogs
for DTNBP1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for DTNBP1 gene
- DBNDD22
2 SIMAP similar genes for DTNBP1 using alignment to 8 protein entries: DTBP1_HUMAN (see all proteins):DBNDD2 C20orf35
DTNBP1 for paralogs About GeneDecksing
|
Genomic Variants
for DTNBP1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 6 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for DTNBP1 (15523032 - 15663289 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for DTNBP1
2 CNVs: 99434 81247
Human Gene Mutation Database (HGMD): DTNBP1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DTNBP1 |
|
Disorders
/ Diseases
for DTNBP1 gene
(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.)
About This Section
|
DTNBP1 for disorders About GeneDecksing
OMIM gene information: 607145
OMIM disorders: 181500 203300
UniProtKB/Swiss-Prot: DTBP1_HUMAN, Q96EV8
Defects in DTNBP1 are the cause of Hermansky-Pudlak syndrome type 7 (HPS7) [MIM:614076]. Hermansky-Pudlaksyndrome (HPS) is a genetically heterogeneous, rare, autosomal recessive disorder characterized by oculocutaneousalbinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results fromdefects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storagein the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS Note=Defects in DTNBP1 are associated with susceptibility to schizophrenia, a mental disorder characterized bya breakdown of thought processes and by poor emotional responsiveness. Genetic mutations lead to alterations in theglutamatergic transmisssion in the brain and modified Akt signaling (PubMed:15345706). Protein levels and expressionare reduced in nerve terminals of the hippocampus and there is an increased release of glutamate in schizophrenicpatients (PubMed:15124027). Levels of isoform 1 are reduced in the pSTG, but not in HF, by about 48% in 92% ofschizophrenic patients. In the HF, there is an average of 33% reduction in synaptic expression of isoform 2 in 67% ofcases, 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 averagereduction of this isoform of about 60% (PubMed:19617633)
19  diseases for DTNBP1: About MalaCardshermansky-pudlak syndrome hermansky-pudlak syndrome 7 platelet storage pool deficiency schizophrenia
muscular dystrophy duchenne muscular dystrophy oculocutaneous albinism schizoaffective disorder
major depressive disorder bipolar affective disorder substance dependence bipolar i disorder
bipolar disorder albinism was-related disorders cerebritis
cholesterol hypoxia neuronitis
4 diseases from the University of Copenhagen DISEASES database for DTNBP1:Schizophrenia Schizoaffective disorder Bipolar I disorder Hermansky-Pudlak syndrome 10 Novoseek 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
Hermansky-Pudlak Syndrome
Genetic Association Database (GAD): DTNBP1
Human Genome Epidemiology (HuGE) Navigator: DTNBP1 (93 documents)
Export disorders for DTNBP1 gene to outside databases
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Publications
for DTNBP1 gene (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)
About This Section
|
PubMed articles for DTNBP1 gene, integrated from 9 sources (see all 207):
(articles sorted by number of sources associating them with DTNBP1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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. (2004)
- Evidence of novel neuronal functions of dysbindin, a susceptibility gene for schizophrenia. (PubMed id 15345706)1, 2, 9 Numakawa T....Hashimoto R. (2004)
- Evidence that the BLOC-1 protein dysbindin modulates dopamine D2 receptor internalization and signaling but not D1 internalization. (PubMed id 17989303)1, 2, 9 Iizuka Y.... Straub R.E. (2007)
- Identifying potential risk haplotypes for schizophrenia at the DTNBP1 locus in Han Chinese and Scottish populations. (PubMed id 16044171)1, 4, 9 Li T....Collier D.A. (2005)
- Identification in 2 independent samples of a novel schizophrenia risk haplotype of the dystrobrevin binding protein gene (DTNBP1). (PubMed id 15066891)1, 4, 9 Williams N.M....O'Donovan M.C. (2004)
- Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). (PubMed id 12923531)1, 2, 9 Li W.... Swank R.T. (2003)
- Bipolar disorder and polymorphisms in the dysbindin gene (DTNBP1). (PubMed id 15820225)1, 4, 9 Raybould R....Craddock N. (2005)
- Association of the DTNBP1 locus with schizophrenia in a U.S. population. (PubMed id 15362017)1, 4, 9 Funke B....Malhotra A.K. (2004)
- The DTNBP1 (dysbindin) gene contributes to schizophrenia, depending on family history of the disease. (PubMed id 14618545)1, 4, 9 Van Den Bogaert A....Cichon S. (2003)
- No evidence for association of the dysbindin gene [DTNBP1] with schizophrenia in an Irish population-based study. (PubMed id 12591580)1, 4, 9 Morris D.W....Corvin A.P. (2003)
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External Searches for DTNBP1 gene
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Genome Databases showing DTNBP1 gene
(According to
Entrez Gene,
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euGenes,
Ensembl,
miRBase,
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and/or
H-InvDB)
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Other Databases showing DTNBP1 gene
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Specialized Databases showing DTNBP1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for DTNBP1 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DTNBP1 |
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Products
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Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | OriGene Antibodies for DTNBP1 | | OriGene shRNA RFP for DTNBP1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DTNBP1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DTNBP1 | | | OriGene Protein Over-expression Lysate for DTNBP1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for DTNBP1 | | OriGene 3'-UTR Clone for DTNBP1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DTNBP1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DTNBP1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for DTNBP1 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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