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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	84062
Gene name Gene Name - the full gene name approved by the HGNC.	Dystrobrevin binding protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DTNBP1
Synonyms (NCBI Gene) Gene synonyms aliases	BLOC1S8, DBND, HPS7, My031, SDY
Disease Acronyms (UniProt) Disease acronyms from UniProt database	HPS7
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6p22.3
Summary Summary of gene provided in NCBI Entrez 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 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(48)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001956	Process	Positive regulation of neurotransmitter secretion	ISS
GO:0005515	Function	Protein binding	IPI	15102850, 19349376, 20921223, 22203680, 23414517, 25416956, 32296183
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0006469	Process	Negative regulation of protein kinase activity	IBA	21873635
GO:0007596	Process	Blood coagulation	IEA
GO:0008089	Process	Anterograde axonal transport	ISS
GO:0010008	Component	Endosome membrane	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0014059	Process	Regulation of dopamine secretion	ISS
GO:0014069	Component	Postsynaptic density	IDA	16980328
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0016528	Component	Sarcoplasm	IEA
GO:0030424	Component	Axon	ISS
GO:0030426	Component	Growth cone	ISS
GO:0030496	Component	Midbody	IDA
GO:0030672	Component	Synaptic vesicle membrane	IBA	21873635
GO:0030672	Component	Synaptic vesicle membrane	IDA	16980328
GO:0030672	Component	Synaptic vesicle membrane	ISS
GO:0031083	Component	BLOC-1 complex	IBA	21873635
GO:0031083	Component	BLOC-1 complex	IDA	15102850, 22203680
GO:0031175	Process	Neuron projection development	IBA	21873635
GO:0031175	Process	Neuron projection development	IDA	16980328
GO:0031532	Process	Actin cytoskeleton reorganization	ISS
GO:0032091	Process	Negative regulation of protein binding	IEA
GO:0032438	Process	Melanosome organization	NAS	22203680
GO:0033162	Component	Melanosome membrane	IEA
GO:0042383	Component	Sarcolemma	ISS
GO:0043005	Component	Neuron projection	IBA	21873635
GO:0043005	Component	Neuron projection	IDA	16980328
GO:0043197	Component	Dendritic spine	ISS
GO:0043506	Process	Regulation of JUN kinase activity	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0048490	Process	Anterograde synaptic vesicle transport	IBA	21873635
GO:0048490	Process	Anterograde synaptic vesicle transport	ISS
GO:0048812	Process	Neuron projection morphogenesis	ISS
GO:0048813	Process	Dendrite morphogenesis	IEA
GO:0060155	Process	Platelet dense granule organization	IBA	21873635
GO:0060159	Process	Regulation of dopamine receptor signaling pathway	ISS
GO:0071901	Process	Negative regulation of protein serine/threonine kinase activity	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	21873635

MIM	HGNC	e!Ensembl
607145	17328	ENSG00000047579

Protein

UniProt ID

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 (6)

Disease term	Disease name	dbSNP ID	References
Causal
Albinism	Albinism	rs28940876, rs387906560, rs62635045, rs140365820, rs141949212, rs1384042381, rs62635042
Carcinoma	Squamous cell carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	31174203
Hermansky-pudlak syndrome	Hermanski-Pudlak Syndrome, HERMANSKY-PUDLAK SYNDROME 7, Hermansky-Pudlak syndrome type 7	rs281865116, rs281865113, rs281865103, rs104893945, rs119471021, rs281865100, rs281865097, rs119471022, rs119471023, rs119471024, rs119471025, rs201227603, rs281865093, rs397507168, rs281865095 View all (101 more)	31064749, 28259707, 12923531
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Ocular albinism	Albinism, Ocular	rs137852296, rs137852297, rs62635018, rs62645741, rs281865178, rs281865183, rs281865184, rs672601353, rs1057518841, rs1057518763, rs1057518787
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	18583979

Show/Hide Unknown Diseases (3)

Disease term	Disease name	References	Source
Unknown
Behavior disorders	Behavior Disorders	25298178	ClinVar
Mental depression	Mental Depression, Depressive disorder, Unipolar Depression, Major Depressive Disorder	19729970, 23512949, 18797396, 20822372, 20951386, 19065121, 17964051, 15274041	ClinVar
Hermansky-Pudlak Syndrome	Hermansky-Pudlak syndrome 7		GenCC

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References
Associations from Text Mining
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)