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FLASH GENE

Symbol

OTUD7A

contributors: mct/npt - updated : 15-11-2022

HGNC name	OTU domain containing 7A
HGNC id	20718

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_130901 11 - 3042 NP_570971 - 926 - 2021 33381903 NM_001329907 11 - 1840 NP_001316836 - 425 - 2021 33381903 NM_001382637 13 - 10964 NP_001369566 - 933 - 2021 33381903

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 forebrain cerebral cortex   highly Homo sapiens Reproductive male system testis

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an UBA domain
	a OTU deubiquitinase domain
	and an A20 zinc finger domain

HOMOLOGY

interspecies

ortholog to murine Otud7a (88 pc)

Homologene

FAMILY

peptidase C64 family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus

basic FUNCTION	putative deubiquitinase (Shinawi 2009)
	SNAI1 -mediated suppression of OTUD7A may have a key role in hepatocellular carcinoma malignancy
	is a critical gene for brain function
	major regulatory gene for DEL15Q13 syndrome that contribute to the disease mechanism through abnormal cortical neuron morphological development
	putative deubiquitinating enzyme that localizes to dendritic spine compartments and has a protein-protein co-expression network that includes synaptic and dendritic signaling pathways
	is the predominant gene regulating dendrite spine development
	potential role of OTUD7A in regulation of dendritic spine density and glutamatergic synaptic transmission
	putative deubiquitinating enzyme that localizes to spine compartments
	OTUD7A is a driver of neurodevelopmental and psychiatric phenotypes at the 15q13.3 deletion

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule	metal binding,
	Zn2+

protein	SNAI1 binds to the promoter of the OTUD7A gene and mediates the direct consequence of OTUD7A repression
	interacts with TRAF6 and cleaves the polyubiquitin from TRAF6 substrates

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EIEE93

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation     loss of function may contribute to neuropsychiatric phenotypes tumoral     --low   in hepatocellular carcinoma constitutional       loss of function impairs synapse development and neuronal function in human neurons, in SZ-affected individuals

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Otud7a KO mice have deficits in cortical neuron dendritic spine density and glutamatergic transmission
	Otud7a-null mice show reduced body weight, developmental delay, abnormal electroencephalography patterns and seizures, reduced ultrasonic vocalizations, decreased grip strength, impaired motor learning/motor coordination, and reduced acoustic startle (
	Otud7a-null mice showed decreased dendritic spine density as well as reduced frequency of miniature excitatory postsynaptic currents