Human Gene DTNBP1 (ENST00000344537.10) from GENCODE V44
  Description: Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA. (from RefSeq NM_032122)
RefSeq Summary (NM_032122): 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].
Gencode Transcript: ENST00000344537.10
Gencode Gene: ENSG00000047579.20
Transcript (Including UTRs)
   Position: hg38 chr6:15,522,807-15,663,028 Size: 140,222 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg38 chr6:15,522,975-15,662,869 Size: 139,895 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:15,522,807-15,663,028)mRNA (may differ from genome)Protein (351 aa)
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-  Comments and Description Text from UniProtKB
  ID: DTBP1_HUMAN
DESCRIPTION: RecName: Full=Dysbindin; AltName: Full=Biogenesis of lysosome-related organelles complex 1 subunit 8; Short=BLOC-1 subunit 8; AltName: Full=Dysbindin-1; AltName: Full=Dystrobrevin-binding protein 1; AltName: Full=Hermansky-Pudlak syndrome 7 protein; Short=HPS7 protein;
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. Plays a role in synaptic vesicle trafficking and in neurotransmitter release. May be required for normal dopamine homeostasis in the cerebral cortex, hippocampus, and hypothalamus. Plays a role in the regulation of cell surface exposure of DRD2. Contributes to the regulation of dopamine signaling. May 4play a role in actin cytoskeleton reorganization and neurite outgrowth. May modulate MAPK8 phosphorylation.
SUBUNIT: Binds to DTNA and DTNB but may not be a physiological binding partner (PubMed:16980328). Interacts (via coiled coil domain) with KXD1. Interacts with BLOC1S5, BLOC1S6, CMYA5, PI4K2, RNF151 and SNAPIN/BLOC1S8 (By similarity). Component of the biogenesis of lysosome-related organelles complex 1 (BLOC-1) composed of BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. Octamer composed of one copy each BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. The BLOC-1 complex associates with the AP-3 protein complex and membrane protein cargos. Identified in a complex with the biogenesis of lysosome-related organelles complex 2 (BLOC-2). Interacts with the DNA-dependent protein kinase complex DNA-PK. Interacts with AP3M1, AP3B2 and TRIM32.
INTERACTION: P78537:BLOC1S1; NbExp=3; IntAct=EBI-465804, EBI-348630; Q6QNY1:BLOC1S2; NbExp=6; IntAct=EBI-465804, EBI-465872; Q6QNY0:BLOC1S3; NbExp=3; IntAct=EBI-465804, EBI-465930; Q8TDH9:MUTED; NbExp=3; IntAct=EBI-465804, EBI-465861; Q9UL45:PLDN; NbExp=6; IntAct=EBI-465804, EBI-465781; O95295:SNAPIN; NbExp=4; IntAct=EBI-465804, EBI-296723;
SUBCELLULAR LOCATION: 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. Nucleus. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Endoplasmic reticulum (By similarity). Note=Detected in neuron cell bodies, axons and dendrites. Detected at synapses, at postsynaptic density, at presynaptic vesicle membranes and microtubules. 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.
TISSUE SPECIFICITY: Detected in brain, in neurons and in neuropil. Detected in dentate gyrus and in pyramidal cells of hippocampus CA2 and CA3 (at protein level).
PTM: Ubiquitinated by TRIM32. Ubiquitination leads to DTNBP1 degradation.
PTM: Phosphorylated by PRKDC.
DISEASE: Defects in DTNBP1 are the cause of Hermansky-Pudlak syndrome type 7 (HPS7) [MIM:614076]. Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous, rare, 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.
SIMILARITY: Belongs to the dysbindin family.
SEQUENCE CAUTION: Sequence=AAG43145.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB70770.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DTNBP1";

-  Primer design for this transcript
 

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-  MalaCards Disease Associations
  MalaCards Gene Search: DTNBP1
Diseases sorted by gene-association score: hermansky-pudlak syndrome 7* (1385), hermansky-pudlak syndrome 1* (283), hermansky-pudlak syndrome (25), bipolar i disorder (17), schizophrenia (11), psychotic disorder (10), schizoaffective disorder (7), bipolar disorder (4), duchenne muscular dystrophy (4), bardet-biedl syndrome 11 (4), disease of mental health (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 23.63 RPKM in Brain - Nucleus accumbens (basal ganglia)
Total median expression: 371.93 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -65.10159-0.409 Picture PostScript Text
3' UTR -43.50168-0.259 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007531 - Dysbindin

Pfam Domains:
PF04440 - Dysbindin (Dystrobrevin binding protein 1)

ModBase Predicted Comparative 3D Structure on Q96EV8
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGI Ensembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0001956 positive regulation of neurotransmitter secretion
GO:0006996 organelle organization
GO:0007596 blood coagulation
GO:0008089 anterograde axonal transport
GO:0010628 positive regulation of gene expression
GO:0014059 regulation of dopamine secretion
GO:0031175 neuron projection development
GO:0031532 actin cytoskeleton reorganization
GO:0032091 negative regulation of protein binding
GO:0032438 melanosome organization
GO:0043506 regulation of JUN kinase activity
GO:0048490 anterograde synaptic vesicle transport
GO:0048812 neuron projection morphogenesis
GO:0048813 dendrite morphogenesis
GO:0050896 response to stimulus
GO:0060155 platelet dense granule organization
GO:0060159 regulation of dopamine receptor signaling pathway
GO:0071901 negative regulation of protein serine/threonine kinase activity

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005768 endosome
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0010008 endosome membrane
GO:0014069 postsynaptic density
GO:0015630 microtubule cytoskeleton
GO:0016020 membrane
GO:0016528 sarcoplasm
GO:0030054 cell junction
GO:0030424 axon
GO:0030426 growth cone
GO:0030496 midbody
GO:0030659 cytoplasmic vesicle membrane
GO:0030672 synaptic vesicle membrane
GO:0031083 BLOC-1 complex
GO:0031410 cytoplasmic vesicle
GO:0033162 melanosome membrane
GO:0042383 sarcolemma
GO:0043005 neuron projection
GO:0043197 dendritic spine
GO:0045202 synapse
GO:0045211 postsynaptic membrane
GO:1904115 axon cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AF394226 - Homo sapiens dysbindin mRNA, complete cds.
BC011912 - Homo sapiens dystrobrevin binding protein 1, mRNA (cDNA clone MGC:20210 IMAGE:4139934), complete cds.
AY265460 - Homo sapiens Hermansky-Pudlak syndrome type 7 protein (DTNBP1) mRNA, complete cds.
AK054593 - Homo sapiens cDNA FLJ30031 fis, clone 3NB692001349.
AF061734 - Homo sapiens clone 022g11 My031 protein mRNA, complete cds.
EU832348 - Synthetic construct Homo sapiens clone HAIB:100067377; DKFZo008H0227 dystrobrevin binding protein 1 protein (DTNBP1) gene, encodes complete protein.
KJ894927 - Synthetic construct Homo sapiens clone ccsbBroadEn_04321 DTNBP1 gene, encodes complete protein.
KR710438 - Synthetic construct Homo sapiens clone CCSBHm_00012575 DTNBP1 (DTNBP1) mRNA, encodes complete protein.
EU832433 - Synthetic construct Homo sapiens clone HAIB:100067462; DKFZo004H0228 dystrobrevin binding protein 1 protein (DTNBP1) gene, encodes complete protein.
KU178801 - Homo sapiens dystrobrevin binding protein 1 isoform 1 (DTNBP1) mRNA, partial cds.
KU178802 - Homo sapiens dystrobrevin binding protein 1 isoform 2 (DTNBP1) mRNA, partial cds, alternatively spliced.
AL136637 - Homo sapiens mRNA; cDNA DKFZp564K192 (from clone DKFZp564K192).
AK310590 - Homo sapiens cDNA, FLJ17632.
AK290718 - Homo sapiens cDNA FLJ78385 complete cds, highly similar to Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 2, mRNA.
EU831643 - Synthetic construct Homo sapiens clone HAIB:100066672; DKFZo007F0519 dystrobrevin binding protein 1 protein (DTNBP1) gene, encodes complete protein.
EU831727 - Synthetic construct Homo sapiens clone HAIB:100066756; DKFZo003F0520 dystrobrevin binding protein 1 protein (DTNBP1) gene, encodes complete protein.
LF209773 - JP 2014500723-A/17276: Polycomb-Associated Non-Coding RNAs.
MA445350 - JP 2018138019-A/17276: Polycomb-Associated Non-Coding RNAs.
JD539039 - Sequence 520063 from Patent EP1572962.
LF331572 - JP 2014500723-A/139075: Polycomb-Associated Non-Coding RNAs.
MA567149 - JP 2018138019-A/139075: Polycomb-Associated Non-Coding RNAs.
JD215158 - Sequence 196182 from Patent EP1572962.
JD370407 - Sequence 351431 from Patent EP1572962.
JD122058 - Sequence 103082 from Patent EP1572962.
JD217712 - Sequence 198736 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q96EV8 (Reactome details) participates in the following event(s):

R-HSA-429815 Formation Of Bloc-1 Complex
R-HSA-432722 Golgi Associated Vesicle Biogenesis
R-HSA-421837 Clathrin derived vesicle budding
R-HSA-199992 trans-Golgi Network Vesicle Budding
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: A8K3V3, BLOC1S8, DTBP1_HUMAN, ENST00000344537.1, ENST00000344537.2, ENST00000344537.3, ENST00000344537.4, ENST00000344537.5, ENST00000344537.6, ENST00000344537.7, ENST00000344537.8, ENST00000344537.9, My031, NM_032122, Q5THY3, Q5THY4, Q96EV8, Q96NV2, Q9H0U2, Q9H3J5, uc003nbm.1, uc003nbm.2, uc003nbm.3, uc003nbm.4, uc003nbm.5
UCSC ID: ENST00000344537.10
RefSeq Accession: NM_032122
Protein: Q96EV8 (aka DTBP1_HUMAN or DBP1_HUMAN)
CCDS: CCDS4534.1, CCDS75405.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene DTNBP1:
hps (Hermansky-Pudlak Syndrome)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.