DTNBP1

dystrobrevin binding protein 1

Tier: Cilia-Associated Genes

Ensembl:: ENSG00000047579
UniProt:: Q96EV8
OMIM:: 607145
Synonyms:: BLOC1S8, DBND, DYSBINDIN, HPS7, MY031

Ciliogenesis screen results (4 screens)

Kim2016: Not Reported
Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:: increased neutrophil cell number, decreased lymphocyte cell number, abnormal coat/hair pigmentation, decreased grip strength, abnormal iris pigmentation, increased leukocyte cell number, increased circulating phosphate level, increased fasting circulating glucose level, preweaning lethality, incomplete penetrance, developmental dysplasia, increased lymphocyte cell number

Subcellular localization

cytosol, nucleus

References: PMID:28576874

Functional category

Ciliary assembly/disassembly
Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
Actin & cytoskeleton regulation
Signaling (Hedgehog, GPCRs, ion channels)

Function

The Dtnbp1sdy/sdy and Pldnpa/pa mouse phenotype strongly correlates with the biochemical and cell biology data and supports the conclusion that BLOC-1 is involved in trafficking polycystin-2 to primary cilia ( 28576874).

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