DTNBP1 dystrobrevin binding protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DTNBP1provided by HGNC
Official Full Name: dystrobrevin binding protein 1provided by HGNC
Primary source: HGNC:HGNC:17328
See related: Ensembl:ENSG00000047579 MIM:607145; AllianceGenome:HGNC:17328
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SDY; DBND; HPS7; My031; BLOC1S8
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 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]
Expression: Ubiquitous expression in lymph node (RPKM 6.2), spleen (RPKM 4.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p22.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (15522807..15663058, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (15395977..15536251, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (15523038..15663289, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Sex dimorphism controls dysbindin-related cognitive dysfunctions in mice and humans with the contribution of COMT.
Title: Sex dimorphism controls dysbindin-related cognitive dysfunctions in mice and humans with the contribution of COMT.
Unraveling Hermansky-Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of DTNBP1 variants.
Title: Unraveling Hermansky-Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of DTNBP1 variants.
Hermansky-Pudlak syndrome with early onset inflammatory bowel disease due to loss of dysbindin expression.
Title: Hermansky-Pudlak syndrome with early onset inflammatory bowel disease due to loss of dysbindin expression.
Dopaminergic signalling and behavioural alterations by Comt-Dtnbp1 genetic interaction and their clinical relevance.
Title: Dopaminergic signalling and behavioural alterations by Comt-Dtnbp1 genetic interaction and their clinical relevance.
SYMPTOM SEVERITY IN SCHIZOPHRENIA PATIENTS WITH NPAS3, DYSBINDIN-1 AND/OR TRIOBP PROTEIN PATHOLOGY IN THEIR BLOOD SERUM: A PANSS-BASED FOLLOW UP STUDY.
Title: SYMPTOM SEVERITY IN SCHIZOPHRENIA PATIENTS WITH NPAS3, DYSBINDIN-1 AND/OR TRIOBP PROTEIN PATHOLOGY IN THEIR BLOOD SERUM: A PANSS-BASED FOLLOW UP STUDY.
Protein Kinase B/Akt1 Phosphorylates Dysbindin-1A at Serine 10 to Regulate Neuronal Development.
Title: Protein Kinase B/Akt1 Phosphorylates Dysbindin-1A at Serine 10 to Regulate Neuronal Development.
Schizophrenia-associated gene dysbindin-1 and tardive dyskinesia.
Title: Schizophrenia-associated gene dysbindin-1 and tardive dyskinesia.
Objective to identify and verify the regulatory mechanism of DTNBP1 as a prognostic marker for hepatocellular carcinoma.
Title: Objective to identify and verify the regulatory mechanism of DTNBP1 as a prognostic marker for hepatocellular carcinoma.
Cortical copper transporter expression in schizophrenia: interactions of risk gene dysbindin-1.
Title: Cortical copper transporter expression in schizophrenia: interactions of risk gene dysbindin-1.
Loss of Dysbindin Implicates Synaptic Vesicle Replenishment Dysregulation as a Potential Pathogenic Mechanism in Schizophrenia.
Title: Loss of Dysbindin Implicates Synaptic Vesicle Replenishment Dysregulation as a Potential Pathogenic Mechanism in Schizophrenia.

Submit: New GeneRIF Correction See all GeneRIFs (143)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hermansky-Pudlak syndrome 7 MedGen: C3279756 OMIM: 614076 GeneReviews: Hermansky-Pudlak Syndrome	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-84219 (e-PCR)
- UniSTS:104707

RH48727 (e-PCR)
- UniSTS:30826

RH103603 (e-PCR)
- UniSTS:97928

D6S89 (e-PCR)
- UniSTS:147595

RH46674 (e-PCR)
- UniSTS:22443

WI-18297 (e-PCR)
- UniSTS:41201

RH94110 (e-PCR)
- UniSTS:83709

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in anterograde axonal transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in anterograde synaptic vesicle transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in anterograde synaptic vesicle transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in blood coagulation	IEA Inferred from Electronic Annotation more info
involved_in cilium assembly	IEA Inferred from Electronic Annotation more info
involved_in dendrite morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in kidney development	IEA Inferred from Electronic Annotation more info
involved_in melanosome organization	NAS Non-traceable Author Statement more info	PubMed
involved_in memory	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of dendritic spine morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in neuron projection development	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuron projection development	IDA Inferred from Direct Assay more info	PubMed
involved_in neuron projection morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in platelet dense granule organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neurotransmitter secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of receptor internalization	IEA Inferred from Electronic Annotation more info
involved_in protein transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of JUN kinase activity	IEA Inferred from Electronic Annotation more info
involved_in regulation of dopamine receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of dopamine secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of synaptic vesicle exocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in retina development in camera-type eye	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of BLOC-1 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of BLOC-1 complex	IDA Inferred from Direct Assay more info	PubMed
part_of BLOC-1 complex	IPI Inferred from Physical Interaction more info	PubMed
located_in Schaffer collateral - CA1 synapse	IEA Inferred from Electronic Annotation more info
located_in axon	ISS Inferred from Sequence or Structural Similarity more info
located_in axon cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
located_in dendritic spine	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in endosome membrane	IEA Inferred from Electronic Annotation more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in growth cone	ISS Inferred from Sequence or Structural Similarity more info
located_in hippocampal mossy fiber to CA3 synapse	IEA Inferred from Electronic Annotation more info
located_in melanosome membrane	IEA Inferred from Electronic Annotation more info
located_in microtubule cytoskeleton	IDA Inferred from Direct Assay more info
located_in midbody	IDA Inferred from Direct Assay more info
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
located_in neuron projection	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	IEA Inferred from Electronic Annotation more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynaptic density	IDA Inferred from Direct Assay more info	PubMed
located_in postsynaptic membrane	IEA Inferred from Electronic Annotation more info
located_in sarcolemma	ISS Inferred from Sequence or Structural Similarity more info
located_in sarcoplasm	IEA Inferred from Electronic Annotation more info
is_active_in synaptic vesicle membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in synaptic vesicle membrane	IDA Inferred from Direct Assay more info	PubMed
located_in synaptic vesicle membrane	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: dysbindin

Names: BLOC-1 subunit 8; Hermansky-Pudlak syndrome 7 protein; biogenesis of lysosomal organelles complex-1, subunit 8; biogenesis of lysosome-related organelles complex 1 subunit 8; dysbindin-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009309.1 RefSeqGene

Range

4983..145240

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_588

mRNA and Protein(s)

NM_001271667.2 → NP_001258596.1 dysbindin isoform C

See identical proteins and their annotated locations for NP_001258596.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an alternate splice site in the 5' coding region and is predicted to use a downstream start codon, compared to variant 1. The resulting isoform (c) has a shorter N-terminus than isoform a. This variant and protein are described by Talbot et al. (PMID:21390302).

Source sequence(s)

AK054593, AY265460, BX394617

UniProtKB/Swiss-Prot

Q96EV8

Conserved Domains (1) summary

pfam04440
Location:94 → 238

Dysbindin; Dysbindin (Dystrobrevin binding protein 1)
NM_001271668.2 → NP_001258597.1 dysbindin isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (5) omits an in-frame coding exon compared to variant 1. The resulting protein isoform (d) is shorter compared to isoform a.

Source sequence(s)

AY265460, BQ056746, BX394617

Consensus CDS

CCDS75405.1

UniProtKB/TrEMBL

A6NFV8

Related

ENSP00000348183.4, ENST00000355917.7

Conserved Domains (1) summary

pfam04440
Location:158 → 302

Dysbindin; Dysbindin (Dystrobrevin binding protein 1)
NM_001271669.2 → NP_001258598.1 dysbindin isoform e

Status: REVIEWED

Description

Transcript Variant: This variant (6) omits two in-frame coding exons compared to variant 1. The resulting protein isoform (e) is shorter than isoform a.

Source sequence(s)

AY265460, BE793298, BX394617

Consensus CDS

CCDS75404.1

UniProtKB/TrEMBL

A0A087WYP9

Related

ENSP00000481997.1, ENST00000622898.4

Conserved Domains (1) summary

pfam04440
Location:140 → 284

Dysbindin; Dysbindin (Dystrobrevin binding protein 1)
NM_032122.5 → NP_115498.2 dysbindin isoform a

See identical proteins and their annotated locations for NP_115498.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a). This protein isoform is described by Talbot et al. (PMID:21390302).

Source sequence(s)

AF394226, BX394617

Consensus CDS

CCDS4534.1

UniProtKB/Swiss-Prot

A8K3V3, Q5THY3, Q5THY4, Q96EV8, Q96NV2, Q9H0U2, Q9H3J5

UniProtKB/TrEMBL

A0A0S2Z5U8

Related

ENSP00000341680.6, ENST00000344537.10

Conserved Domains (2) summary

pfam04440
Location:175 → 319

Dysbindin; Dysbindin (Dystrobrevin binding protein 1)

cl25732
Location:2 → 202

SMC_N; RecF/RecN/SMC N terminal domain
NM_183040.2 → NP_898861.1 dysbindin isoform b

See identical proteins and their annotated locations for NP_898861.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an additional segment in the coding region compared to variant 1. The resulting isoform (b) contains a shorter and distinct C-terminus compared to isoform a. This protein isoform is described by Talbot et al. (PMID:21390302).

Source sequence(s)

AK290718, AK310590, AL136637, BX394617

Consensus CDS

CCDS4535.1

UniProtKB/Swiss-Prot

Q96EV8

Related

ENSP00000344718.5, ENST00000338950.9

Conserved Domains (1) summary

pfam04440
Location:175 → 271

Dysbindin; Dysbindin (Dystrobrevin binding protein 1)

RNA

NR_036448.3 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) contains an additional exon and an additional segment compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK290718, AK310590, AL136637, BX394617

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

15522807..15663058 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047419395.1 → XP_047275351.1 dysbindin isoform X2
XM_047419394.1 → XP_047275350.1 dysbindin isoform X1
XM_011514937.3 → XP_011513239.1 dysbindin isoform X3

UniProtKB/TrEMBL

D6RJC6

Related

ENSP00000427239.1, ENST00000462989.6

Conserved Domains (1) summary

pfam04440
Location:19 → 163

Dysbindin; Dysbindin (Dystrobrevin binding protein 1)