DTNBP1
Dysbindin
Also known as: BLOC1S8, DBND, DTBP1_HUMAN, Dysbindin, HPS7, My031
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96EV8
- Gene
- DTNBP1
- Ensembl
- ENSG00000047579
- Chromosome
- 6
- Canonical length
- 351 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Microtubules,Midbody
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
351 residues, UniProt reviewed canonical sequence.
>Q96EV8|DTNBP1
1 MLETLRERLL SVQQDFTSGL KTLSDKSREA KVKSKPRTVP FLPKYSAGLE LLSRYEDTWA
61 ALHRRAKDCA SAGELVDSEV VMLSAHWEKK KTSLVELQEQ LQQLPALIAD LESMTANLTH
121 LEASFEEVEN NLLHLEDLCG QCELERCKHM QSQQLENYKK NKRKELETFK AELDAEHAQK
181 VLEMEHTQQM KLKERQKFFE EAFQQDMEQY LSTGYLQIAE RREPIGSMSS MEVNVDMLEQ
241 MDLMDISDQE ALDVFLNSGG EENTVLSPAL GPESSTCQNE ITLQVPNPSE LRAKPPSSSS
301 TCTDSATRDI SEGGESPVVQ SDEEEVQVDT ALATSHTDRE ATPDGGEDSD SLocalizationUniProt · AlphaFold · HPA
Whether an antibody against DTNBP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.58
- Highest tissue expression
- 118 nTPM
Expression across tissuesHPA
Tissue
- retina: 118 nTPM
- basal ganglia: 90 nTPM
- amygdala: 46 nTPM
- cerebral cortex: 42 nTPM
- hypothalamus: 37 nTPM
- midbrain: 35 nTPM
Single-cell type
- retinal amacrine cells: 255 nCPM
- rod photoreceptor cells: 168 nCPM
- neutrophils: 166 nCPM
- hofbauer cells: 145 nCPM
- b-cells: 145 nCPM
- pdcs: 143 nCPM
Immune cell
- NK-cell: 50 nTPM
- naive B-cell: 31 nTPM
- plasmacytoid DC: 31 nTPM
- memory B-cell: 25 nTPM
- gdT-cell: 20 nTPM
- memory CD8 T-cell: 17 nTPM
Brain region
- basal ganglia: 79 nTPM
- cerebral cortex: 51 nTPM
- hypothalamus: 49 nTPM
- thalamus: 47 nTPM
- midbrain: 43 nTPM
- pons: 40 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DTNBP1.
Disease | AllUniProt
Conditions DTNBP1 is implicated in, by any mechanism.
- Hermansky-Pudlak syndrome 7 (HPS7) MIM:614076
Disease | GeneticClinVar
15 pathogenic / likely-pathogenic of 365 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hermansky-Pudlak syndrome 7
- DTNBP1-related disorder
- Hermansky-Pudlak syndrome
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.98
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.24
- DepMap mean gene effect
- -0.07
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- actin cytoskeleton organization
- anterograde axonal transport
- anterograde synaptic vesicle transport
- blood coagulation
- cilium assembly
- dendrite morphogenesis
- kidney development
- melanosome organization
- memory
- negative regulation of dendritic spine morphogenesis
- neuron projection development
- neuron projection morphogenesis
- platelet dense granule organization
- positive regulation of gene expression
- positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization
- positive regulation of neurotransmitter secretion
- positive regulation of receptor internalization
- protein transmembrane transport
- regulation of dopamine receptor signaling pathway
- regulation of dopamine secretion
- regulation of signal transduction
- regulation of synaptic vesicle exocytosis
- retina development in camera-type eye
Cellular components
- axon
- axon cytoplasm
- BLOC-1 complex
- cytoplasm
- cytosol
- dendritic spine
- endoplasmic reticulum membrane
- endosome membrane
- glutamatergic synapse
- growth cone
- hippocampal mossy fiber to CA3 synapse
- melanosome membrane
- microtubule cytoskeleton
- midbody
- neuron projection
- neuronal cell body
- nucleus
- plasma membrane
- postsynaptic density
- postsynaptic membrane
- sarcolemma
- sarcoplasm
- Schaffer collateral - CA1 synapse
- synaptic vesicle membrane
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of DTNBP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DTNBP1 as an antibody target. Whether an autoantibody or antibody against DTNBP1 could matter depends on whether native DTNBP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DTNBP1 is annotated at the cell surface, where native DTNBP1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label DTNBP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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