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Details on Person UniProt:Q8NEL9 DDHD1

Class:Id	ReferenceGeneProduct:89026
_chainChangeLog	chain:1-900 added on Sat February 7 2015
_displayName	UniProt:Q8NEL9 DDHD1
_timestamp	2025-02-21 19:58:08
chain	chain:1-900
checksum	D70DAD1A73AC22B8
comment	FUNCTION Phospholipase A1 (PLA1) that hydrolyzes ester bonds at the sn-1 position of glycerophospholipids producing a free fatty acid and a lysophospholipid (Probable) (PubMed:20359546, PubMed:22922100). Prefers phosphatidate (1,2-diacyl-sn-glycero-3-phosphate, PA) as substrate in vitro, but can efficiently hydrolyze phosphatidylinositol (1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol), PI), as well as a range of other glycerophospholipid substrates such as phosphatidylcholine (1,2-diacyl-sn-glycero-3-phosphocholine, PC), phosphatidylethanolamine (1,2-diacyl-sn-glycero-3-phosphoethanolamine, PE), phosphatidylserine (1,2-diacyl-sn-glycero-3-phospho-L-serine, PS) and phosphatidylglycerol (1,2-diacyl-sn-glycero-3-phospho-(1'-sn-glycerol), PG) (Probable) (PubMed:20359546). Involved in the regulation of the endogenous content of polyunsaturated PI and PS lipids in the nervous system. Changes in these lipids extend to downstream metabolic products like PI phosphates PIP and PIP2, which play fundamental roles in cell biology (By similarity). Regulates mitochondrial morphology (PubMed:24599962). These dynamic changes may be due to PA hydrolysis at the mitochondrial surface (PubMed:24599962). May play a regulatory role in spermatogenesis or sperm function (PubMed:24599962).CATALYTIC ACTIVITY a 1,2-diacyl-sn-glycero-3-phosphate + H2O = a 2-acyl-sn-glycerol 3-phosphate + a fatty acid + H(+)CATALYTIC ACTIVITY a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + H2O = a 2-acyl-sn-glycero-3-phospho-D-myo-inositol + a fatty acid + H(+)CATALYTIC ACTIVITY 1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phospho-(1D-myo-inositol) + H2O = 2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phospho-(1D-myo-inositol) + octadecanoate + H(+)CATALYTIC ACTIVITY a 1-acyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phospho-(1D-myo-inositol) + H2O = 2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phospho-(1D-myo-inositol) + a fatty acid + H(+)CATALYTIC ACTIVITY 1,2-dihexadecanoyl-sn-glycero-3-phospho-(1D-myo-inositol) + H2O = 2-hexadecanoyl-sn-glycero-3-phospho-(1D-myo-inositol) + hexadecanoate + H(+)CATALYTIC ACTIVITY a 1-acyl-2-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn-glycero-3-phosphate + H2O = 2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphate + a fatty acid + H(+)CATALYTIC ACTIVITY 1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phosphate + H2O = 2-(9Z-octadecenoyl)-sn-glycero-3-phosphate + (9Z)-octadecenoate + H(+)CATALYTIC ACTIVITY 1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphate + H2O = 2-(9Z-octadecenoyl)-sn-glycero-3-phosphate + hexadecanoate + H(+)CATALYTIC ACTIVITY 1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phospho-L-serine + H2O = 2-(9Z-octadecenoyl)-sn-glycero-3-phospho-L-serine + hexadecanoate + H(+)CATALYTIC ACTIVITY 1,2-di-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn-glycero-3-phosphate + H2O = 2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphate + (5Z,8Z,11Z,14Z)-eicosatetraenoate + H(+)CATALYTIC ACTIVITY 1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphate + H2O = 2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphate + octadecanoate + H(+)CATALYTIC ACTIVITY a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 2-acyl-sn-glycero-3-phosphocholine + a fatty acid + H(+)CATALYTIC ACTIVITY a 1,2-diacyl-sn-glycero-3-phosphoethanolamine + H2O = a 2-acyl-sn-glycero-3-phosphoethanolamine + a fatty acid + H(+)CATALYTIC ACTIVITY a 1,2-diacyl-sn-glycero-3-phospho-L-serine + H2O = a 2-acyl-sn-glycero-3-phospho-L-serine + a fatty acid + H(+)CATALYTIC ACTIVITY a 1,2-diacyl-sn-glycero-3-phospho-(1'-sn-glycerol) + H2O = 2-acyl-sn-glycero-3-phospho-(1'-sn-glycerol) + a fatty acid + H(+)CATALYTIC ACTIVITY 1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phospho-(1'-sn-glycerol) + H2O = 2-(9Z-octadecenoyl)-sn-glycero-3-phospho-(1'-sn-glycerol) + hexadecanoate + H(+)CATALYTIC ACTIVITY 1-acyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphocholine + H2O = 2-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn-glycero-3-phosphocholine + a fatty acid + H(+)CATALYTIC ACTIVITY 1-acyl-2-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn-glycero-3-phosphoethanolamine + H2O = 2-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn-glycero-3-phosphoethanolamine + a fatty acid + H(+)CATALYTIC ACTIVITY 1-(9Z-octadecenoyl)-2-(7Z,10Z,13Z,16Z,19Z-docosapentaenoyl)-sn-glycero-3-phospho-1D-myo-inositol + H2O = 2-(7Z,10Z,13Z,16Z,19Z-docosapentaenoyl)-sn-glycero-3-phospho-1D-myo-inositol + (9Z)-octadecenoate + H(+)CATALYTIC ACTIVITY 1-(9Z-octadecenoyl)-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phospho-1D-myo-inositol + H2O = 2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phospho-(1D-myo-inositol) + (9Z)-octadecenoate + H(+)CATALYTIC ACTIVITY 1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phospho-1D-myo-inositol + H2O = 2-(9Z-octadecenoyl)-sn-glycero-3-phospho-1D-myo-inositol + (9Z)-octadecenoate + H(+)CATALYTIC ACTIVITY 1-(9Z-octadecenoyl)-2-(8Z,11Z,14Z-eicosatrienoyl)-sn-glycero-3-phospho-1D-myo-inositol + H2O = 2-(8Z,11Z,14Z-eicosatrienoyl)-sn-glycero-3-phospho-1D-myo-inositol + (9Z)-octadecenoate + H(+)CATALYTIC ACTIVITY 1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine + H2O = (9Z-octadecenoyl)-sn-glycero-3-phosphocholine + (9Z)-octadecenoate + H(+)ACTIVITY REGULATION Phosphatidate (1,2-diacyl-sn-glycero-3-phosphate, PA) can positively regulate phospholipase A1 activity.PATHWAY Phospholipid metabolism; phosphatidylinositol metabolism.SUBUNIT Forms homooligomers and, to a much smaller extent, heterooligomers with DDHD2 (PubMed:22922100).INTERACTION Highly expressed in testis. Also expressed in brain, spleen and lung. Only expressed in cerebellum in fetal brain.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the PA-PLA1 family.SEQUENCE CAUTION Extended N-terminus.SEQUENCE CAUTION Truncated N-terminus.
description	recommendedName: fullName evidence="15"Phospholipase DDHD1 ecNumber evidence="3"3.1.1.111 ecNumber evidence="7"3.1.1.32 alternativeName: DDHD domain-containing protein 1 alternativeName: Phosphatidic acid-preferring phospholipase A1 homolog shortName evidence="15"PA-PLA1 ecNumber evidence="7 8 19"3.1.1.118 alternativeName: Phospholipid sn-1 acylhydrolase
geneName	DDHD1 KIAA1705
identifier	Q8NEL9
isSequenceChanged	FALSE
keyword	Alternative splicing Cytoplasm Hereditary spastic paraplegia Hydrolase Lipid metabolism Neurodegeneration Phospholipid metabolism Phosphoprotein Proteomics identification Reference proteome
modified	[InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9862192] Weiser, Joel, 2024-02-26 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21
name	DDHD1
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:8962409] ENSEMBL:ENSG00000100523 DDHD1 [Homo sapiens]
secondaryIdentifier	DDHD1_HUMAN G5E9D1 Q8WVH3 Q96LL2 Q9C0F8
sequenceLength	900
species	[Species:48887] Homo sapiens
(isoformParent)	[ReferenceIsoform:146330] UniProt:Q8NEL9-2 DDHD1 [Homo sapiens] [ReferenceIsoform:146331] UniProt:Q8NEL9-3 DDHD1 [Homo sapiens] [ReferenceIsoform:411557] UniProt:Q8NEL9-1 DDHD1 [Homo sapiens] [ReferenceIsoform:8977787] UniProt:Q8NEL9-4 DDHD1 [Homo sapiens]
(referenceEntity)	[EntityWithAccessionedSequence:6786636] DDHD1 [cytosol] [Homo sapiens]
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No pathways have been reviewed or authored by UniProt:Q8NEL9 DDHD1 (89026)