About   Help   FAQ
Dtnbp1 Gene Detail
Summary
  • Symbol
    Dtnbp1
  • Name
    dystrobrevin binding protein 1
  • Synonyms
    5430437B18Rik, Bloc1s8, dysbindin, sdy
  • Feature Type
    protein coding gene
  • IDs
    MGI:2137586
    NCBI Gene: 94245
  • Gene Overview
    MyGene.info: DTNBP1
  • Alliance
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:44922077-45002096 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 21.73 cM
  • Mapping Data
    10 experiments
Strain
Comparison
more
  • SNPs within 2kb
    491 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2137586
protein coding gene Chr13:44922075-45002147 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020505
protein coding gene Chr13:43609175-43689469 (-)
A/J MGP_AJ_G0020459
protein coding gene Chr13:42098918-42181312 (-)
AKR/J MGP_AKRJ_G0020437
protein coding gene Chr13:43278204-43364336 (-)
BALB/cJ MGP_BALBcJ_G0020455
protein coding gene Chr13:42309818-42390197 (-)
C3H/HeJ MGP_C3HHeJ_G0020254
protein coding gene Chr13:43120303-43203750 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020888
protein coding gene Chr13:44940674-45029396 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018475
protein coding gene Chr13:40177734-40258275 (-)
CAST/EiJ MGP_CASTEiJ_G0019769
protein coding gene Chr13:42994131-43083332 (-)
CBA/J MGP_CBAJ_G0020215
protein coding gene Chr13:46834294-46922362 (-)
DBA/2J MGP_DBA2J_G0020337
protein coding gene Chr13:41664166-41745204 (-)
FVB/NJ MGP_FVBNJ_G0020316
protein coding gene Chr13:41184783-41264304 (-)
LP/J MGP_LPJ_G0020412
protein coding gene Chr13:43838267-43926661 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020345
protein coding gene Chr13:46691704-46782689 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020931
protein coding gene Chr13:42932645-43014738 (-)
PWK/PhJ MGP_PWKPhJ_G0019524
protein coding gene Chr13:41785050-41865978 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019354
protein coding gene Chr13:41587800-41669783 (-)
WSB/EiJ MGP_WSBEiJ_G0019831
protein coding gene Chr13:43244865-43329380 (-)



Homology
more
  • Human Ortholog
    DTNBP1, dystrobrevin binding protein 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    DTNBP1, dystrobrevin binding protein 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BLOC1S8, DBND, HPS7, My031, SDY
  • Links
    NCBI Gene ID: 84062
    neXtProt AC: NX_Q96EV8
    UniProt: Q96EV8

  • Chr Location
    6p22.3; chr6:15522801-15663058 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    3 with Dtnbp1 mouse models; 1 with human DTNBP1 associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
View 1 model
IDs
View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    34 phenotypes from 3 alleles in 5 genetic backgrounds
    56 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mutations at this locus result in pigmentation anomalies of the coat and eye as well as prolonged bleeding times due to platelet abnormalities.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 94245 NCBI Gene Model | MGI Sequence Detail 80020 C57BL/6J ±  kb
    transcript NM_025772 RefSeq | MGI Sequence Detail 1311 C57BL/6  
    polypeptide Q91WZ8 UniProt | EBI | MGI Sequence Detail 352 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 62
      cDNA 62

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-14348, MGI:1914048, MGI:2145406, MGI:98271
    References
    more
    • Summaries
      All 99
      Developmental Gene Expression 7
      Diseases 5
      Gene Ontology 17
      Phenotypes 56
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:247118 Monis WJ, et al., BLOC-1 is required for selective membrane protein trafficking from endosomes to primary cilia. J Cell Biol. 2017 Jul 03;216(7):2131-2150

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    11/13/2018
    MGI 6.13
    The Jackson Laboratory