Gene

dtnbp1a

ID

ZDB-GENE-040426-1036

Name

dystrobrevin binding protein 1a

Symbol

dtnbp1a Nomenclature History

Previous Names

dtnbp1
hps7 (1)
zgc:56462 (1)

Type

protein_coding_gene

Location

Chr: 16 Mapping Details/Browsers

Description

Predicted to be involved in several processes, including anterograde synaptic vesicle transport; platelet dense granule organization; and regulation of synaptic vesicle exocytosis. Predicted to be located in several cellular components, including cytoplasmic vesicle membrane; endoplasmic reticulum; and postsynaptic density. Predicted to be part of BLOC-1 complex. Predicted to be active in neuron projection; plasma membrane; and synaptic vesicle membrane. Is expressed in several structures, including epidermis; neural crest; periderm; pigment cell; and retina. Used to study Hermansky-Pudlak syndrome. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome 7 and schizophrenia. Orthologous to human DTNBP1 (dystrobrevin binding protein 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

7 figures from 3 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

MGC:56462 (13 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 1 Figure from Chen et al., 2018
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With dtnbp1a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Hermansky-Pudlak syndrome 7	Alliance	Hermansky-Pudlak syndrome 7	614076

Associated With dtnbp1a Via Experimental Models

Human Disease	Fish	Conditions	Citations
Hermansky-Pudlak syndrome	dtnbp1a^{ihb819/ihb819}	standard conditions	Chen et al., 2018

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Family	IPR007531	Dysbindin

Domain Details Per Protein

Protein	Additional Resources	Length
UniProtKB:E9QDJ9	InterPro	206
UniProtKB:A0A8M2B4X1	InterPro	362
UniProtKB:A0A8M2B4E5	InterPro	361
UniProtKB:A0A8M2B510	InterPro	363
UniProtKB:A0A8M2B4E7	InterPro	204
UniProtKB:A0A8M2B4E8	InterPro	359
UniProtKB:Q7ZWE6	InterPro	362
UniProtKB:A0A8M9NZ68	InterPro	243
UniProtKB:A0A8M2B4E2	InterPro	360
UniProtKB:A0A8M2B511	InterPro	207
UniProtKB:A0A8M2B4F1	InterPro	203

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	dtnbp1a-201 (1) Ensembl	Ensembl	2,027 nt	Select Tool ZFIN BLAST
mRNA	dtnbp1a-203 (1) Ensembl	Ensembl	885 nt	Select Tool ZFIN BLAST
mRNA	dtnbp1a-205 (1) Ensembl	Ensembl	880 nt	Select Tool ZFIN BLAST
mRNA	dtnbp1a-207 (1) Ensembl	Ensembl	741 nt	Select Tool ZFIN BLAST
ncRNA	dtnbp1a-003 (1) Ensembl	Ensembl	804 nt	Select Tool ZFIN BLAST
ncRNA	dtnbp1a-004 (1) Ensembl	Ensembl	785 nt	Select Tool ZFIN BLAST
ncRNA	dtnbp1a-005 (1) Ensembl	Ensembl	538 nt	Select Tool ZFIN BLAST
ncRNA	dtnbp1a-008 (1) Ensembl	Ensembl	421 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations