DTNBP1 (dystrobrevin binding protein 1)

Gene

• Entrez ID: 84062
• Gene name: Dystrobrevin binding protein 1
• Gene symbol: DTNBP1
• Synonyms: BLOC1S8, DBND, HPS7, My031, SDY
• 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

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

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

Other IDs

• MIM: 607145
• HGNC: 17328
• e!Ensembl: 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

• Sequence:

  MLETLRERLLSVQQDFTSGLKTLSDKSREAKVKSKPRTVPFLPKYSAGLELLSRYEDTWA
  ALHRRAKDCASAGELVDSEVVMLSAHWEKKKTSLVELQEQLQQLPALIADLESMTANLTH
  LEASFEEVENNLLHLEDLCGQCELERCKHMQSQQLENYKKNKRKELETFKAELDAEHAQK
  VLEMEHTQQMKLKERQKFFEEAFQQDMEQYLSTGYLQIAERREPIGSMSSMEVNVDMLEQ
  MDLMDISDQEALDVFLNSGGEENTVLSPALGPESSTCQNEITLQVPNPSELRAKPPSSSS
  TCTDSATRDISEGGESPVVQSDEEEVQVDTALATSHTDREATPDGGEDSDS

• Sequence length: 351

Pathways

Reactome:

Golgi Associated Vesicle Biogenesis

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
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, rs121908316, rs281865163, rs281865082, rs121908385, rs121908386, rs281865081, rs281865077, rs121908904, rs1000881595, rs121908905, rs121908906, rs121908907, rs281865084, rs281865086, rs281865088, rs281865090, rs281865075, rs281865076, rs281865080, rs281865104, rs281865105, rs397507169, rs281865101, rs201348482, rs1564899492, rs281865114, rs281865110, rs281865107, rs281865112, rs727502866, rs786205464, rs869312835, rs869312836, rs869312837, rs869312838, rs369053765, rs879255646, rs886041723, rs1591055649, rs753928208, rs113304476, rs1131692151, rs1131692149, rs1131692146, rs1131692148, rs1131692147, rs764296457, rs1131692150, rs1131692332, rs1131692333, rs766602179, rs281865115, rs1554903728, rs1220869113, rs773323079, rs1554948134, rs1486224265, rs1277509410, rs1553750083, rs372020804, rs1564899012, rs1590262288, rs753185316, rs1553750097, rs780183200, rs1576695913, rs1576708708, rs1590262450, rs756471925, rs1478574193, rs1590263807, rs1590263820, rs779921624, rs755827664, rs374689398, rs886077189, rs1591120765, rs1260083432, rs748883997, rs750685598, rs778152054, rs755083879, rs1488175163, rs1591092841, rs1576687466, rs756325364, rs1591002808, rs1591045080, rs1602079277, rs1591109881, rs1591031929, rs200079039, rs1595560288, rs772475341, rs1330496818, rs1745947620, rs552340796, rs1453977337, rs754841982, rs1568469902, rs1763106978	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	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	18583979

Unknown
Disease name	Disease term	dbSNP ID	References
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells	Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
Behavior disorders	Behavior Disorders	rs28914832, rs748194758, rs7224199, rs3813034, rs886052778, rs199601052, rs200528841, rs138004662, rs140699, rs886052781, rs6354, rs886052782, rs199876421, rs56138846, rs200506079, rs886052774, rs185569563, rs886052777, rs181130006, rs200363238, rs567262768, rs201053633, rs200633071, rs56110451, rs114814153, rs28914831, rs45541837, rs25533, rs886052784, rs201844395, rs746067804, rs56140935, rs185658988, rs886052775, rs886052776, rs55823902, rs1042173, rs886052779, rs6352, rs6353, rs200861334, rs55908624, rs886052780, rs201073368, rs34845320, rs199890541, rs763069645, rs202111661, rs886052783, rs74845752, rs41274284	25298178
Bipolar disorder	Bipolar Disorder		18234478, 19573260, 19089808, 18180429, 21305691
Mental disorders	Mental disorders, Mental Disorders, Severe		25298178
Mental depression	Mental Depression, Depressive disorder, Unipolar Depression, Major Depressive Disorder	rs587778876, rs587778877	19729970, 23512949, 18797396, 20822372, 19729970, 20822372, 18797396, 23512949, 20951386, 19065121, 20822372, 17964051, 15274041, 15274041, 20951386, 19065121, 20822372, 17964051
Mental depression with psychotic features	Severe major depression with psychotic features		23512949, 20951386
Mood disorder	Mood Disorders		15274041, 20951386, 19065121