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FLASH GENE

Symbol

DBNDD1

contributors: mct/npt/pgu - updated : 07-01-2022

HGNC name	dysbindin (dystrobrevin binding protein 1) domain containing 1
HGNC id	28455

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	16q24.3      Physical location : 90.071.278 - 90.085.937
Synonym symbol(s)	MGC3101, FLJ12582

DNA

TYPE	functioning gene
STRUCTURE	15.02 kb     5 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001042610 4 splicing 2150 NP_001036075 16.9 158 - 2009 19077176 NM_024043 4 splicing 2096 NP_076948 19.5 178 - 2009 19077176 NM_001288709 4 - 2073 NP_001275638 - 76 - 2009 19077176 NM_001288708 5 - 2186 NP_001275637 - 158 - 2009 19077176 NM_001371581 2 - 1843 NP_001358510 - 76 - 2009 19077176

EXPRESSION

Type

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       highly Reproductive female system uterus cervix   highly   male system prostate     predominantly Urinary bladder       highly Visual eye       moderately

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies	homolog to rattus Dbndd1 (81.9 pc)
	homolog to murine Dbndd1 (80.7 pc)

Homologene

FAMILY

dysbindin family

CATEGORY

unknown/unspecified

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm

basic FUNCTION	functions presynaptically, potentially at or near the synaptic vesicle pool
	required presynaptically for the retrograde, homeostatic modulation of neurotransmission, and functions in a dose-dependent manner downstream or independently of calcium influx
	essential for adaptive neural plasticity and may link altered homeostatic signaling with a complex neurological disease
	possible functions of DBNDD1 at the postsynapse in the regulation of dendritic spine morphogenesis through the interaction with WASF2 and ABI1)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

CMYA5 is a TRIM-like protein associated protein dysbindin (DBNDD1)

cell & other

REGULATION

Other

regulated by TRIM32 (TRIM32 binds and ubiquitinates dysbindin, a protein implicated in the genetic aetiology of schizophrenia, augmenting its degradation)

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to schizophrenia

Variant & Polymorphism other	contribution of dysbindin mutations to schizophrenia may derive from altered homeostatic plasticity as opposed to decreased baseline glutamatergic transmission

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS