Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

DTNBP1

contributors: mct - updated : 20-09-2022

HGNC name	dystrobrevin binding protein 1
HGNC id	17328

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain         Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a coiled-coil protein

HOMOLOGY

interspecies

ortholog to murine Dtnbp1

Homologene

FAMILY

dysbindin family

CATEGORY

chaperone/stress , structural protein

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,endosome
	intracellular,cytoplasm,organelle,lysosome
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,microtubule
text	sarcolemma of muscular cells
	concentrated in tissue enriched insynaptic vesicles and, less commonly, in postsynaptic densities

basic FUNCTION	involved in maintenance of muscle integrity during the mechanical stress of contraction and relaxation
	playing a role int he biogenesis of lysosome-related organelles
	plays a key role in coordinating JNK signaling and actin cytoskeleton required for neural development
	role of DTNBP1 gene variants in the glutamate neurotransmission system in the human brain at least in the hippocampus
	potential regulation mechanism for dysbindin-1A in neuronal development

CELLULAR PROCESS

cell organization/biogenesis

PHYSIOLOGICAL PROCESS

nervous system

PATHWAY

metabolism

signaling

neurotransmission , signal transduction

a component	component with dystrophin and alpha-dystobrevin of the dystrophin protein associated complex DPC and of the biogenesis of lysosome -related organelles complex 1 (BLOC-1)
	DTNBP1 and DISC1 form a physiologically functional complex that is essential for normal neurite outgrowth

INTERACTION

DNA

RNA

small molecule

protein	binding to alpha and delta dystrobrevin in muscle and brain, respectively
	interacting with CMYA5
	binding SNAPIN (binding partner of SNAPIN in the brain, and function of DTNBP1 in presynaptic, postsynaptic and microtubule locations may all be related to known functions of snapin)
	physical interaction between DTNBP1 and DISC1 is critical for the stability of dysbindin and for the process of neurite outgrowth
	regulation of DTNBP1 by VRK2, providing the association of these two proteins, which are commonly implicated in schizophrenia

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HPS7 , SCZD3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in dorsolateral prefrontal cortex and hippocampus of schizophrenic patients constitutional     --low   in brain areas of schizophrenic patients constitutional     --low   in the hippocampus and prefrontal cortex in post mortem brains of schizophrenic patients

Susceptibility

to schizophrenia (rs1011313) to intelligence variation to bipolar disorder to temporal lobe epilepsy (TLE)

Variant & Polymorphism SNP	influencing intelligence variation
	association of schizophrenia with SNPs at the 3' end of DTNBP1
	haplotype increasing the risk of bipolar disorder
	mutant allele rs2619538 T > A was exclusively observed in TLE patients

Candidate gene	candidate gene for SCZD3
Marker
Therapy target

ANIMAL & CELL MODELS

Sandy (sdy) mice that express no dysbindin, owing to a deletion of the DTNBP1 gene showed behavioral abnormalities such as reduced activity, heightened anxiety-like response, and deficits in social interaction, memory, and learning