Dtnbp1
Gene Detail

Symbol Name ID

Dtnbp1 dystrobrevin binding protein 1 MGI:2137586

Synonyms

5430437B18Rik, Bloc1s8, dysbindin, sdy

Feature Type

protein coding gene

Genetic Map

Chromosome 13

21.73 cM
Detailed Genetic Map ± 1 cM


Mapping data(10)

Sequence Map

Chr13:44922079-45002096 bp, - strand From NCBI annotation of GRCm38   80018 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:12037  Vertebrate Homology Class
1 human; 1 mouse; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: dysbindin
Gene Tree: Dtnbp1

Human homologs

Human Homolog		DTNBP1, dystrobrevin binding protein 1
NCBI Gene ID		84062
neXtProt AC		NX_Q96EV8
Human Synonyms		BLOC1S8, DBND, HPS7, My031, SDY
Human Chr (Location)		6p22.3; chr6:15523032-15663289 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human DTNBP1

Alleles and phenotypes

All alleles(50) : Targeted(2) Gene trapped(46) Spontaneous(1) Chemically induced(1)
 

Mutations at this locus result in pigmentation anomalies of the coat and eye as well as prolonged bleeding times due to platelet abnormalities.

 
Human Diseases Modeled Using Mouse Dtnbp1 (2)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (41 annotations)

Process	actin cytoskeleton reorganization, anterograde axon cargo transport, ...
Component	axon, axon part, ...
Function	protein binding

External Resources: FuncBase

Expression

Literature Summary: (4 records)
Data Summary: Results (48)    Tissues (29)    Images (13)
Theiler Stages: 19, 23, 24, 28

Assay Type	Results
RNA in situ	41
Western blot	7

cDNA source data(59)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(61) cDNA(61)
Microarray probesets(3)

Other database links

Ensembl Gene Model	ENSMUSG00000057531 (Evidence)
Entrez Gene	94245 (Evidence)
UniGene	352311
DFCI	TC1577472, TC1593572
DoTS	DT.101373716, DT.530357, DT.55280872, DT.99840711
NIA Mouse Gene Index	U034731
Consensus CDS Project	CCDS36647.1
International Mouse Knockout Project Status	Dtnbp1

Sequences

Length	Strain/Species
genomic	94245	NCBI Gene Model | MGI Sequence Detail	80018	C57BL/6J
transcript	NM_025772	RefSeq | MGI Sequence Detail	1311	C57BL/6
polypeptide	Q91WZ8	UniProt | EBI | MGI Sequence Detail	352	Not Applicable

All sequences(29) RefSeq(2) UniProt(1)

Polymorphisms

SNPs(371 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR007531	Dysbindin
Protein Ontology	PR:000006719	dysbindin

Graphical View of Protein Domain Structure

References

(Earliest) J:14267 Sweet HO, Sandy (sdy). Mouse Genome. 1990;86:237
(Latest) J:192646 Yang Q, et al., The BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organelles. Traffic. 2012 Aug;13(8):1160-9
All references(68)

Other accession IDs

MGD-MRK-14348, MGI:1914048, MGI:2145406, MGI:98271