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FLASH GENE

Symbol

PDE11A

contributors: mct/pgu - updated : 18-12-2018

HGNC name	phosphodiesterase 11A
HGNC id	8773

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	485.09 kb     21 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter (CAAT box) (TATA box)
	Binding site
text structure	Sp1 binding site

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	four splice variants differing in the length of their N termini were found

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001077196 17 - 7786 NP_001070664 - 489 - 2009 19671705 also called PDE11A1, isoform 1 NM_001077358 19 splicing 1869 NP_001070826 - 575 ? 2009 19671705 also called PDE11A2, isoform 2 NM_001077197 21 splicing 8316 NP_001070665 - 683 specific of testis prostate 2009 19671705 also called PDE11A3, isoform 3 NM_016953 20 splicing 9285 NP_058649 - 933 specific of testis, prostate, also expressed in adrenal gland 2009 19671705 also called PDE11A4, isoform 4 exons 3 to 22 mutated in adrenocortical hyperplasia contain one or more GAF (cGMP-binding phosphodiesterase) inhibitory effect of the N-terminal region on the affinity of the catalytic domain for both substrates and inhibitors and the first to define the quaternary structure and the regions that contribute to this structure within the human PDE11A family

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 limbic system hippocampus   highly Homo sapiens Reproductive male system prostate     predominantly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   predominantly Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N terminal GAF domain of the cytochrome C pseudogene, that vary in length and amino acid sequence, a tandem of so-called GAF domains in its N-terminal regulatory regions
	a GAF domain
	a conserved C-terminal catalytic domain that hydrolyzes cAMP and cGMP

HOMOLOGY

interspecies

homolog to Drosophila CG10231

Homologene

FAMILY	cyclic nucleotide phosphodiesterase family
	GAP/PDE family

CATEGORY

enzyme , signaling

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum

basic FUNCTION	dual-specificity phosphodiesterase that binds both cAMP and cGMP that is expressed in adrenal cortex
	predispose to a variety of lesions (beyond micronodular adrenocortical hyperplasia) and may contribute to the development of these tumors in the general population
	may have a role in the pain pathway of migraine as well as trigeminal neuralgia and trigeminal autonomic cephalalgias
	plays a significant role in regulating brain function
	genetic modifying factor for the development of testicular and adrenal tumors in patients with germline PRKAR1A mutation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

inhibited by

by tadalafil partially

ASSOCIATED DISORDERS

corresponding disease(s)

PPNAD2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   LOH   loss of function of PDE11A4 in adrenocortical hyperplasia and Cushing syndrome, and patients with micronodular adrenocortical hyperplasia constitutional       loss of function in bilateral adrenocortical hyperplasia (BAH)

Susceptibility

to acromegaly to prostatic cancer

Variant & Polymorphism other	variants in a subset of acromegalic patients, which was only slightly more frequent than in control (variants might only marginally contribute to the development of somatotropinomas)
	PDE11A-inactivating genetic alterations may play a role in susceptibility to prostatic cancer

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

PDE11A KO mice exhibit several subtle psychiatric-disease–related phenotypes indicative of ventral hippocampus dysfunction