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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 Ensembl 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 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 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; chr6:15522801-15663058 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human DTNBP1
Mutations,
alleles, and
phenotypes
All mutations/alleles(52) : Chemically induced (ENU)(1) Gene trapped(46) Spontaneous(1) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
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)   
Interactions
Dtnbp1 interacts with 20 markers (Mir137, Mir182, Mir207, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (50 annotations)
Process actin cytoskeleton reorganization, anterograde axon cargo transport, ...
Component axon, BLOC-1 complex, ...
Function protein binding
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (48)    Tissues (29)    Images (13)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 41
Western blot 7
cDNA source data(59)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(61) cDNA(61)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000057531 (Evidence)
Entrez Gene94245 (Evidence)
UniGene352311
DFCITC1577472, TC1593572
DoTSDT.530357, DT.101373716, DT.55280872, DT.99840711
NIA Mouse Gene IndexU034731
Consensus CDS ProjectCCDS36647.1
International Mouse Knockout Project StatusDtnbp1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000057531 Ensembl Gene Model | MGI Sequence Detail 80018 C57BL/6J ±  kb
transcript ENSMUST00000072329 Ensembl | MGI Sequence Detail 1311 Not Applicable 
polypeptide ENSMUSP00000072170 Ensembl | MGI Sequence Detail 352 Not Applicable 

For the selected sequences
All sequences(33) RefSeq(4) UniProt(3)
Polymorphisms
SNPs within 2kb(494 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR007531 Dysbindin
Protein Ontology PR:000006719 dysbindin
References
(Earliest) J:14267 Sweet HO, Sandy (sdy). Mouse Genome. 1990;86:237
(Latest) J:206565 Abdelmagid SM, et al., Mutation in Osteoactivin Decreases Bone Formation in Vivo and Osteoblast Differentiation in Vitro. Am J Pathol. 2014 Mar;184(3):697-713
All references(76)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-14348, MGI:1914048, MGI:2145406, MGI:98271

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/11/2014
MGI 5.20
The Jackson Laboratory