Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	84062
Gene name	Dystrobrevin binding protein 1
Gene symbol	DTNBP1
Synonyms (NCBI Gene)	BLOC1S8DBNDHPS7My031SDY
Chromosome	6
Chromosome location	6p22.3
Summary	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 c

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893945	G>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, non coding transcript variant
rs727502866	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained
rs752074481	CTCT>-,CT	Pathogenic, uncertain-significance	Frameshift variant, coding sequence variant, genic downstream transcript variant

Show/Hide all (28)

miRTarBase ID	miRNA	Experiments
MIRT946763	hsa-miR-1229	CLIP-seq
MIRT946764	hsa-miR-342-3p	CLIP-seq
MIRT946765	hsa-miR-377	CLIP-seq
MIRT946766	hsa-miR-1207-5p	CLIP-seq
MIRT946767	hsa-miR-135a	CLIP-seq
MIRT946768	hsa-miR-135b	CLIP-seq
MIRT946769	hsa-miR-2113	CLIP-seq
MIRT946770	hsa-miR-3119	CLIP-seq
MIRT946771	hsa-miR-3179	CLIP-seq
MIRT946772	hsa-miR-3611	CLIP-seq
MIRT946773	hsa-miR-4641	CLIP-seq
MIRT946774	hsa-miR-4698	CLIP-seq
MIRT946775	hsa-miR-4736	CLIP-seq
MIRT946776	hsa-miR-4763-3p	CLIP-seq
MIRT946777	hsa-miR-488	CLIP-seq
MIRT946778	hsa-miR-758	CLIP-seq
MIRT1980381	hsa-miR-4760-3p	CLIP-seq
MIRT2519855	hsa-miR-182	CLIP-seq
MIRT946770	hsa-miR-3119	CLIP-seq
MIRT2519856	hsa-miR-3163	CLIP-seq
MIRT2519857	hsa-miR-3180-5p	CLIP-seq
MIRT946765	hsa-miR-377	CLIP-seq
MIRT2519858	hsa-miR-380	CLIP-seq
MIRT2519859	hsa-miR-3924	CLIP-seq
MIRT2519860	hsa-miR-4495	CLIP-seq
MIRT2519861	hsa-miR-490-3p	CLIP-seq
MIRT2519862	hsa-miR-548b-3p	CLIP-seq
MIRT2519863	hsa-miR-548c-3p	CLIP-seq

Show/Hide all (83)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001822	Process	Kidney development	IEA
GO:0001956	Process	Positive regulation of neurotransmitter secretion	IEA
GO:0001956	Process	Positive regulation of neurotransmitter secretion	ISS
GO:0002092	Process	Positive regulation of receptor internalization	IEA
GO:0005515	Function	Protein binding	IPI	15102850, 17043677, 19142223, 19349376, 20921223, 22203680, 23414517, 25416956, 32296183, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0007596	Process	Blood coagulation	IEA
GO:0007613	Process	Memory	IEA
GO:0008089	Process	Anterograde axonal transport	IEA
GO:0008089	Process	Anterograde axonal transport	ISS
GO:0009966	Process	Regulation of signal transduction	IBA
GO:0010008	Component	Endosome membrane	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0014059	Process	Regulation of dopamine secretion	IEA
GO:0014059	Process	Regulation of dopamine secretion	ISS
GO:0014069	Component	Postsynaptic density	IDA	16980328
GO:0014069	Component	Postsynaptic density	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0016020	Component	Membrane	IEA
GO:0016528	Component	Sarcoplasm	IEA
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030036	Process	Actin cytoskeleton organization	ISS
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030426	Component	Growth cone	IEA
GO:0030426	Component	Growth cone	ISS
GO:0030496	Component	Midbody	IDA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	IBA
GO:0030672	Component	Synaptic vesicle membrane	IDA	16980328
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	ISS
GO:0031083	Component	BLOC-1 complex	IBA
GO:0031083	Component	BLOC-1 complex	IDA	15102850, 22203680
GO:0031083	Component	BLOC-1 complex	IEA
GO:0031083	Component	BLOC-1 complex	IPI	22203680
GO:0031175	Process	Neuron projection development	IBA
GO:0031175	Process	Neuron projection development	IDA	16980328
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032279	Component	Asymmetric synapse	IEA
GO:0032438	Process	Melanosome organization	NAS	15102850, 22203680
GO:0033162	Component	Melanosome membrane	IEA
GO:0042383	Component	Sarcolemma	IEA
GO:0042383	Component	Sarcolemma	ISS
GO:0043005	Component	Neuron projection	IBA
GO:0043005	Component	Neuron projection	IDA	16980328
GO:0043025	Component	Neuronal cell body	IEA
GO:0043197	Component	Dendritic spine	IEA
GO:0043197	Component	Dendritic spine	ISS
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0048490	Process	Anterograde synaptic vesicle transport	IBA
GO:0048490	Process	Anterograde synaptic vesicle transport	IEA
GO:0048490	Process	Anterograde synaptic vesicle transport	ISS
GO:0048812	Process	Neuron projection morphogenesis	IEA
GO:0048812	Process	Neuron projection morphogenesis	ISS
GO:0048813	Process	Dendrite morphogenesis	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060155	Process	Platelet dense granule organization	IBA
GO:0060155	Process	Platelet dense granule organization	IEA
GO:0060159	Process	Regulation of dopamine receptor signaling pathway	IEA
GO:0060159	Process	Regulation of dopamine receptor signaling pathway	ISS
GO:0060271	Process	Cilium assembly	IEA
GO:0061002	Process	Negative regulation of dendritic spine morphogenesis	IEA
GO:0061646	Process	Positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization	IEA
GO:0071806	Process	Protein transmembrane transport	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098686	Component	Hippocampal mossy fiber to CA3 synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:1904115	Component	Axon cytoplasm	IEA
GO:2000300	Process	Regulation of synaptic vesicle exocytosis	IBA
GO:2000300	Process	Regulation of synaptic vesicle exocytosis	IEA

MIM	HGNC	e!Ensembl
607145	17328	ENSG00000047579

Q96EV8

Protein name

Dysbindin (Biogenesis of lysosome-related organelles complex 1 subunit 8) (BLOC-1 subunit 8) (Dysbindin-1) (Dystrobrevin-binding protein 1) (Hermansky-Pudlak syndrome 7 protein) (HPS7 protein)

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 m

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04440	Dysbindin	175 → 320	Dysbindin (Dystrobrevin binding protein 1)	Family

Tissue specificity

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

Sequence

MLETLRERLLSVQQDFTSGLKTLSDKSREAKVKSKPRTVPFLPKYSAGLELLSRYEDTWA
ALHRRAKDCASAGELVDSEVVMLSAHWEKKKTSLVELQEQLQQLPALIADLESMTANLTH
LEASFEEVENNLLHLEDLCGQCELERCKHMQSQQLENYKKNKRKELETFKAELDAEHAQK
VLEMEHTQQMKLKERQKFFEEAFQQDMEQYLSTGYLQIAERREPIGSMSSMEVNVDMLEQ
MDLMDISDQEALDVFLNSGGEENTVLSPALGPESSTCQNEITLQVPNPSELRAKPPSSSS
TCTDSATRDISEGGESPVVQSDEEEVQVDTALATSHTDREATPDGGEDSDS

Sequence length

351

Interactions

View interactions

	Reactome
			Golgi Associated Vesicle Biogenesis

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
DTNBP1-related disorder	Likely pathogenic; Pathogenic	rs367702294, rs1772009067	RCV003420788 RCV003418821
Hermansky-Pudlak syndrome	Likely pathogenic; Pathogenic	rs746781620	RCV002282931
Hermansky-Pudlak syndrome 7	Likely pathogenic; Pathogenic	rs757126788, rs2127784434, rs727502866, rs104893945	RCV005045112 RCV002272733 RCV000150041 RCV000003601

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs16876746	RCV005916454
Cervical cancer	Likely benign; -	rs138406667, rs559661829	RCV005931665 RCV005977158
Cholangiocarcinoma	Benign	rs16876746, rs742106	RCV005916457 RCV005918755
Clear cell carcinoma of kidney	Likely benign	rs146546977	RCV005894236
Colon adenocarcinoma	Likely benign	rs146546977	RCV005894235
Familial cancer of breast	Likely benign	rs138406667	RCV005931664
Gastric cancer	Conflicting classifications of pathogenicity	rs77460377	RCV005922827
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	rs77460377	RCV005922826
Interstitial lung disease 2	Uncertain significance	rs1415761555	RCV000677216
Lung cancer	Likely benign; -	rs146546977, rs559661829	RCV005894237 RCV005977159
Malignant lymphoma, large B-cell, diffuse	Benign	rs742106	RCV005918754
Melanoma	Uncertain significance	rs780343075	RCV005926427
Ovarian serous cystadenocarcinoma	Benign	rs16876746	RCV005916456
Sarcoma	Benign	rs16876746	RCV005916455
Thyroid cancer, nonmedullary, 1	Likely benign	rs138406667	RCV005931667
Uterine carcinosarcoma	Likely benign	rs138406667	RCV005931666
Uterine corpus endometrial carcinoma	Likely benign	rs138406667	RCV005931668

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Albinism	Associate	35488210
Albinism Oculocutaneous	Inhibit	28259707
Anxiety Disorders	Associate	20615259
Bipolar Disorder	Associate	16380905
Brain Neoplasms	Associate	27091610
Carcinoma Hepatocellular	Stimulate	34997064
Cognition Disorders	Associate	17074466
Cognitive Dysfunction	Associate	17074466
Hermanski Pudlak Syndrome	Associate	23364359, 30990103, 34608437
Hippocampal Sclerosis	Associate	22580710
Lysosomal Storage Diseases	Associate	28259707
Memory Disorders	Associate	19794403
Mental Disorders	Associate	20615259, 34318684
Neoplasm Metastasis	Stimulate	34997064
Neoplasms	Stimulate	34997064
Neoplasms	Associate	38186576
Opioid Related Disorders	Associate	20615259
Platelet Storage Pool Deficiency	Inhibit	28259707
Platelet Storage Pool Deficiency	Associate	28259707
Psychotic Disorders	Associate	22580710
Schizophrenia	Associate	16380905, 17074466, 17410640, 17825267, 18804346, 19475563, 19496996, 19794403, 20615259, 22580710, 25333879
Schizophrenia	Inhibit	19142223
Sensation Disorders	Associate	19794403
Stress Disorders Post Traumatic	Associate	20615259
Substance Related Disorders	Associate	20615259
Tobacco Use Disorder	Associate	20615259
Vision Disorders	Associate	19794403

DTNBP1 (dystrobrevin binding protein 1)