PDE3A
entrez
5139
canonical
uniprot
Q14432
canonical
ensembl
ENSG00000172572
resolver
ensp
ENSP00000351957
resolver
enst
ENST00000359062
resolver
genesymbol
PDE3A
resolver
hgnc
HGNC:8778
resolver
uniprot
O60865
resolver
uniprot
Q13348
resolver
uniprot
Q17RD1
resolver
uniprot_entry
PDE3A_HUMAN
resolver
uniprot_sec
O60865
resolver
uniprot_sec
Q13348
resolver
uniprot_sec
Q17RD1
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by cGMP (PubMed:8155697, PubMed:8695850). Inhibited by 17beta-estradiol (PubMed:35104454). Inhibited by milrinone (PubMed:27975297). {ECO:0000269|PubMed:27975297, ECO:0000269|PubMed:35104454, ECO:0000269|PubMed:8155697, ECO:0000269|PubMed:8695850}.
uniprot
proteins
amino_acid_sequence
MAVPGDAARVRDKPVHSGVSQAPTAGRDCHHRADPASPRDSGCRGCWGDLVLQPLRSSRKLSSALCAGSLSFLLALLVRLVRGEVGCDLEQCKEAAAAEEEEAAPGAEGGVFPGPRGGAPGGGARLSPWLQPSALLFSLLCAFFWMGLYLLRAGVRLPLAVALLAACCGGEALVQIGLGVGEDHLLSLPAAGVVLSCLAAATWLVLRLRLGVLMIALTSAVRTVSLISLERFKVAWRPYLAYLAGVLGILLARYVEQILPQSAEAAPREHLGSQLIAGTKEDIPVFKRRRRSSSVVSAEMSGCSSKSHRRTSLPCIPREQLMGHSEWDHKRGPRGSQSSGTSITVDIAVMGEAHGLITDLLADPSLPPNVCTSLRAVSNLLSTQLTFQAIHKPRVNPVTSLSENYTCSDSEESSEKDKLAIPKRLRRSLPPGLLRRVSSTWTTTTSATGLPTLEPAPVRRDRSTSIKLQEAPSSSPDSWNNPVMMTLTKSRSFTSSYAISAANHVKAKKQSRPGALAKISPLSSPCSSPLQGTPASSLVSKISAVQFPESADTTAKQSLGSHRALTYTQSAPDLSPQILTPPVICSSCGRPYSQGNPADEPLERSGVATRTPSRTDDTAQVTSDYETNNNSDSSDIVQNEDETECLREPLRKASACSTYAPETMMFLDKPILAPEPLVMDNLDSIMEQLNTWNFPIFDLVENIGRKCGRILSQVSYRLFEDMGLFEAFKIPIREFMNYFHALEIGYRDIPYHNRIHATDVLHAVWYLTTQPIPGLSTVINDHGSTSDSDSDSGFTHGHMGYVFSKTYNVTDDKYGCLSGNIPALELMALYVAAAMHDYDHPGRTNAFLVATSAPQAVLYNDRSVLENHHAAAAWNLFMSRPEYNFLINLDHVEFKHFRFLVIEAILATDLKKHFDFVAKFNGKVNDDVGIDWTNENDRLLVCQMCIKLADINGPAKCKELHLQWTDGIVNEFYEQGDEEASLGLPISPFMDRSAPQLANLQESFISHIVGPLCNSYDSAGLMPGKWVEDSDESGDTDDPEEEEEEAPAPNEEETCENNESPKKKTFKRRKIYCQITQHLLQNHKMWKKVIEEEQRLAGIENQSLDQTPQSHSSEQIQAIKEEEEEKGKPRGEEIPTQKPDQ
uniprot
proteins
disease_involvement
DISEASE: Hypertension and brachydactyly syndrome (HTNB) [MIM:112410]: A syndrome characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, and altered baroreflex blood pressure regulation. It results in death from stroke before age 50 years when untreated. Brachydactyly type E is characterized by shortening of the fingers mainly in the metacarpals and metatarsals. {ECO:0000269|PubMed:25961942}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.4.17
uniprot
proteins
function
FUNCTION: Cyclic nucleotide phosphodiesterase with specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes (PubMed:1315035, PubMed:25961942, PubMed:8155697, PubMed:8695850). Also has activity toward cUMP (PubMed:27975297). Independently of its catalytic activity it is part of an E2/17beta-estradiol-induced pro-apoptotic signaling pathway. E2 stabilizes the PDE3A/SLFN12 complex in the cytosol, promoting the dephosphorylation of SLFN12 and activating its pro-apoptotic ribosomal RNA/rRNA ribonuclease activity. This apoptotic pathway might be relevant in tissues with high concentration of E2 and be for instance involved in placenta remodeling (PubMed:31420216, PubMed:34707099). {ECO:0000269|PubMed:1315035, ECO:0000269|PubMed:25961942, ECO:0000269|PubMed:27975297, ECO:0000269|PubMed:31420216, ECO:0000269|PubMed:34707099, ECO:0000269|PubMed:8155697, ECO:0000269|PubMed:8695850}.
uniprot
proteins
mass_dalton
124979
uniprot
proteins
mutagenesis
MUTAGEN 867; /note="N->R: Loss of interaction with SLFN12."; /evidence="ECO:0000269|PubMed:34272366"; MUTAGEN 914; /note="F->D,A: Loss of interaction with SLFN12."; /evidence="ECO:0000269|PubMed:34272366
uniprot
proteins
protein_family
Cyclic nucleotide phosphodiesterase family
uniprot
proteins
protein_family
PDE3 subfamily
uniprot
proteins
pubmed
10421499
uniprot
proteins
pubmed
1315035
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
18088087
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25961942
uniprot
proteins
pubmed
27975297
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
31420216
uniprot
proteins
pubmed
34272366
uniprot
proteins
pubmed
34707099
uniprot
proteins
pubmed
35104454
uniprot
proteins
pubmed
8155697
uniprot
proteins
pubmed
8695850
uniprot
proteins
sequence_length
1141
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:Q9Z0X4}; Multi-pass membrane protein {ECO:0000255}. Cytoplasm, cytosol {ECO:0000269|PubMed:35104454}.
uniprot
proteins
transmembrane_region
TRANSMEM 61..81; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 130..150; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 160..180; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 185..205; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 210..230; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 232..252; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins