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Protein

Phospholipase DDHD1

Gene

DDHD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Phospholipase that hydrolyzes phosphatidic acid, including 1,2-dioleoyl-sn-phosphatidic acid. The different isoforms may change the substrate specificity.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei537By similarity1

GO - Molecular functioni

GO - Biological processi

  • lipid catabolic process Source: UniProtKB-KW
  • positive regulation of mitochondrial fission Source: MGI

Keywordsi

Molecular functionHydrolase
Biological processLipid degradation, Lipid metabolism

Enzyme and pathway databases

ReactomeiR-HSA-1483166 Synthesis of PA

Chemistry databases

SwissLipidsiSLP:000001079 [Q8NEL9-2]

Names & Taxonomyi

Protein namesi
Recommended name:
Phospholipase DDHD1 (EC:3.1.1.-)
Alternative name(s):
DDHD domain-containing protein 1
Phosphatidic acid-preferring phospholipase A1 homolog
Short name:
PA-PLA1
Gene namesi
Name:DDHD1
Synonyms:KIAA1705
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

EuPathDBiHostDB:ENSG00000100523.14
HGNCiHGNC:19714 DDHD1
MIMi614603 gene
neXtProtiNX_Q8NEL9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia 28, autosomal recessive (SPG28)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Some SPG28 patients also have distal sensory impairment.
See also OMIM:609340

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi590L → S: No effect on homooligomer formation; when associated with S-593. 1 Publication1
Mutagenesisi593I → S: No effect on homooligomer formation; when associated with S-590. 1 Publication1
Mutagenesisi662D → A: Markedly decreased enzymatic activity. 1 Publication1
Mutagenesisi848D → A: Markedly decreased enzymatic activity. 1 Publication1
Mutagenesisi867H → A: Markedly decreased enzymatic activity. 1 Publication1
Mutagenesisi875D → A: No effect on enzymatic activity. 1 Publication1

Keywords - Diseasei

Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

DisGeNETi80821
MalaCardsiDDHD1
MIMi609340 phenotype
OpenTargetsiENSG00000100523
Orphaneti101008 Autosomal recessive spastic paraplegia type 28
PharmGKBiPA134861440

Polymorphism and mutation databases

BioMutaiDDHD1
DMDMi37999716

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000798451 – 900Phospholipase DDHD1Add BLAST900

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei8PhosphoserineCombined sources1
Modified residuei11PhosphoserineCombined sources1
Modified residuei723PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8NEL9
MaxQBiQ8NEL9
PaxDbiQ8NEL9
PeptideAtlasiQ8NEL9
PRIDEiQ8NEL9
ProteomicsDBi73175
73176 [Q8NEL9-2]
73177 [Q8NEL9-3]

PTM databases

iPTMnetiQ8NEL9
PhosphoSitePlusiQ8NEL9

Expressioni

Tissue specificityi

Highly expressed in testis. Also expressed in brain, spleen and lung. Only expressed in cerebellum in fetal brain.1 Publication

Gene expression databases

BgeeiENSG00000100523
CleanExiHS_DDHD1
ExpressionAtlasiQ8NEL9 baseline and differential
GenevisibleiQ8NEL9 HS

Organism-specific databases

HPAiHPA049870

Interactioni

Subunit structurei

Forms homooligomers and, to a much smaller extent, heterooligomers with DDHD2.1 Publication

Protein-protein interaction databases

BioGridi123318, 21 interactors
IntActiQ8NEL9, 6 interactors
STRINGi9606.ENSP00000327104

Structurei

3D structure databases

ProteinModelPortaliQ8NEL9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini611 – 886DDHDPROSITE-ProRule annotationAdd BLAST276

Sequence similaritiesi

Belongs to the PA-PLA1 family.Curated

Phylogenomic databases

eggNOGiKOG2308 Eukaryota
ENOG410YDSX LUCA
GeneTreeiENSGT00530000063155
HOGENOMiHOG000007412
HOVERGENiHBG059037
InParanoidiQ8NEL9
KOiK13619
OMAiHLALDPC
OrthoDBiEOG091G0AR5
PhylomeDBiQ8NEL9
TreeFamiTF314133

Family and domain databases

InterProiView protein in InterPro
IPR004177 DDHD_dom
PfamiView protein in Pfam
PF02862 DDHD, 1 hit
SMARTiView protein in SMART
SM01127 DDHD, 1 hit
PROSITEiView protein in PROSITE
PS51043 DDHD, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8NEL9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MNYPGRGSPR SPEHNGRGGG GGAWELGSDA RPAFGGGVCC FEHLPGGDPD
60 70 80 90 100
DGDVPLALLR GEPGLHLAPG TDDHNHHLAL DPCLSDENYD FSSAESGSSL
110 120 130 140 150
RYYSEGESGG GGSSLSLHPP QQPPLVPTNS GGGGATGGSP GERKRTRLGG
160 170 180 190 200
PAARHRYEVV TELGPEEVRW FYKEDKKTWK PFIGYDSLRI ELAFRTLLQT
210 220 230 240 250
TGARPQGGDR DGDHVCSPTG PASSSGEDDD EDRACGFCQS TTGHEPEMVE
260 270 280 290 300
LVNIEPVCVR GGLYEVDVTQ GECYPVYWNQ ADKIPVMRGQ WFIDGTWQPL
310 320 330 340 350
EEEESNLIEQ EHLNCFRGQQ MQENFDIEVS KSIDGKDAVH SFKLSRNHVD
360 370 380 390 400
WHSVDEVYLY SDATTSKIAR TVTQKLGFSK ASSSGTRLHR GYVEEATLED
410 420 430 440 450
KPSQTTHIVF VVHGIGQKMD QGRIIKNTAM MREAARKIEE RHFSNHATHV
460 470 480 490 500
EFLPVEWRSK LTLDGDTVDS ITPDKVRGLR DMLNSSAMDI MYYTSPLYRD
510 520 530 540 550
ELVKGLQQEL NRLYSLFCSR NPDFEEKGGK VSIVSHSLGC VITYDIMTGW
560 570 580 590 600
NPVRLYEQLL QKEEELPDER WMSYEERHLL DELYITKRRL KEIEERLHGL
610 620 630 640 650
KASSMTQTPA LKFKVENFFC MGSPLAVFLA LRGIRPGNTG SQDHILPREI
660 670 680 690 700
CNRLLNIFHP TDPVAYRLEP LILKHYSNIS PVQIHWYNTS NPLPYEHMKP
710 720 730 740 750
SFLNPAKEPT SVSENEGIST IPSPVTSPVL SRRHYGESIT NIGKASILGA
760 770 780 790 800
ASIGKGLGGM LFSRFGRSST TQSSETSKDS MEDEKKPVAS PSATTVGTQT
810 820 830 840 850
LPHSSSGFLD SAYFRLQESF FNLPQLLFPE NVMQNKDNAL VELDHRIDFE
860 870 880 890 900
LREGLVESRY WSAVTSHTAY WSSLDVALFL LTFMYKHEHD DDAKPNLDPI
Length:900
Mass (Da):100,435
Last modified:October 24, 2003 - v2
Checksum:iD70DAD1A73AC22B8
GO
Isoform 2 (identifier: Q8NEL9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     813-841: YFRLQESFFNLPQLLFPENVMQNKDNALV → L

Show »
Length:872
Mass (Da):97,050
Checksum:iD58636E03DB8BF78
GO
Isoform 3 (identifier: Q8NEL9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-418: Missing.
     813-841: YFRLQESFFNLPQLLFPENVMQNKDNALV → L

Note: No experimental confirmation available.
Show »
Length:454
Mass (Da):51,554
Checksum:i06138258AEADA349
GO
Isoform 4 (identifier: Q8NEL9-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     337-337: D → DGSGINYS
     813-841: YFRLQESFFNLPQLLFPENVMQNKDNALV → L

Note: No experimental confirmation available.
Show »
Length:879
Mass (Da):97,729
Checksum:i80B36E3D1CAE627F
GO

Sequence cautioni

The sequence BAB21796 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAB71679 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti109G → GGG in AK125372 (PubMed:14702039).Curated1
Sequence conflicti675H → R in AAH30703 (PubMed:15489334).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0086281 – 418Missing in isoform 3. 2 PublicationsAdd BLAST418
Alternative sequenceiVSP_045340337D → DGSGINYS in isoform 4. Curated1
Alternative sequenceiVSP_008629813 – 841YFRLQ…DNALV → L in isoform 2, isoform 3 and isoform 4. 3 PublicationsAdd BLAST29

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB051492 mRNA Translation: BAB21796.1 Different initiation.
AK058137 mRNA Translation: BAB71679.1 Different initiation.
AK125372 mRNA No translation available.
AL352979 Genomic DNA No translation available.
AL356020 Genomic DNA No translation available.
CH471061 Genomic DNA Translation: EAW80623.1
BC018014 mRNA Translation: AAH18014.1
BC030703 mRNA Translation: AAH30703.1
CCDSiCCDS53895.1 [Q8NEL9-1]
CCDS53896.1 [Q8NEL9-4]
CCDS9714.1 [Q8NEL9-2]
RefSeqiNP_001153619.1, NM_001160147.1 [Q8NEL9-4]
NP_001153620.1, NM_001160148.1 [Q8NEL9-1]
NP_085140.2, NM_030637.2 [Q8NEL9-2]
UniGeneiHs.125525

Genome annotation databases

EnsembliENST00000323669; ENSP00000327104; ENSG00000100523 [Q8NEL9-1]
ENST00000357758; ENSP00000350401; ENSG00000100523 [Q8NEL9-2]
ENST00000395606; ENSP00000378970; ENSG00000100523 [Q8NEL9-4]
GeneIDi80821
KEGGihsa:80821
UCSCiuc001xah.4 human [Q8NEL9-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiDDHD1_HUMAN
AccessioniPrimary (citable) accession number: Q8NEL9
Secondary accession number(s): G5E9D1
, Q8WVH3, Q96LL2, Q9C0F8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 24, 2003
Last sequence update: October 24, 2003
Last modified: June 20, 2018
This is version 128 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

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