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 anterograde synaptic vesicle transport and neuron projection development. Predicted to localize to BLOC-1 complex. Used to study Hermansky-Pudlak syndrome. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome 7 and schizophrenia. Is expressed in several structures, including epidermis; neural crest; periderm; pigment cell; and retina. 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	Length	Dysbindin
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
mRNA	dtnbp1a-203 (1) Ensembl	Ensembl	885 nt	Select Tool
mRNA	dtnbp1a-205 (1) Ensembl	Ensembl	880 nt	Select Tool
mRNA	dtnbp1a-207 (1) Ensembl	Ensembl	741 nt	Select Tool
ncRNA	dtnbp1a-003 (1) Ensembl	Ensembl	804 nt	Select Tool
ncRNA	dtnbp1a-004 (1) Ensembl	Ensembl	785 nt	Select Tool
ncRNA	dtnbp1a-005 (1) Ensembl	Ensembl	538 nt	Select Tool
ncRNA	dtnbp1a-008 (1) Ensembl	Ensembl	421 nt	Select Tool

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