UniProtKB - Q8NEL9 (DDHD1_HUMAN)
Protein
Phospholipase DDHD1
Gene
DDHD1
Organism
Homo sapiens (Human)
Status
Functioni
Phospholipase that hydrolyzes phosphatidic acid, including 1,2-dioleoyl-sn-phosphatidic acid. The different isoforms may change the substrate specificity (PubMed:22922100). Required for the organization of the endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER) (PubMed:17428803).2 Publications
Catalytic activityi
- 1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phosphate + H2O = (9Z)-octadecenoate + 2-(9Z-octadecenoyl)-sn-glycero-3-phosphate + H+1 PublicationThis reaction proceeds in the forward1 Publication direction.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 537 | By similarity | 1 |
GO - Molecular functioni
- metal ion binding Source: InterPro
- phospholipase activity Source: GO_Central
GO - Biological processi
- lipid catabolic process Source: UniProtKB-KW
- phosphatidic acid biosynthetic process Source: Reactome
- positive regulation of mitochondrial fission Source: MGI
Keywordsi
Molecular function | Hydrolase |
Biological process | Lipid degradation, Lipid metabolism |
Enzyme and pathway databases
BioCyci | MetaCyc:ENSG00000100523-MONOMER |
PathwayCommonsi | Q8NEL9 |
Reactomei | R-HSA-1483166, Synthesis of PA |
Chemistry databases
SwissLipidsi | SLP:000001079 [Q8NEL9-2] |
Names & Taxonomyi
Protein namesi | Recommended name: Phospholipase DDHD1Curated (EC:3.1.1.-)Alternative name(s): DDHD domain-containing protein 1 Phosphatidic acid-preferring phospholipase A1 homolog Short name: PA-PLA1 |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:19714, DDHD1 |
MIMi | 614603, gene |
neXtProti | NX_Q8NEL9 |
VEuPathDBi | HostDB:ENSG00000100523.14 |
Subcellular locationi
Cytoplasm and Cytosol
- Cytoplasm 1 Publication
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Involvement in diseasei
Spastic paraplegia 28, autosomal recessive (SPG28)1 Publication
The disease is caused by variants 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.
Related information in OMIMMutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 590 | L → S: No effect on homooligomer formation; when associated with S-593. 1 Publication | 1 | |
Mutagenesisi | 593 | I → S: No effect on homooligomer formation; when associated with S-590. 1 Publication | 1 | |
Mutagenesisi | 662 | D → A: Markedly decreased enzymatic activity. 1 Publication | 1 | |
Mutagenesisi | 848 | D → A: Markedly decreased enzymatic activity. 1 Publication | 1 | |
Mutagenesisi | 867 | H → A: Markedly decreased enzymatic activity. 1 Publication | 1 | |
Mutagenesisi | 875 | D → A: No effect on enzymatic activity. 1 Publication | 1 |
Keywords - Diseasei
Hereditary spastic paraplegia, NeurodegenerationOrganism-specific databases
DisGeNETi | 80821 |
MalaCardsi | DDHD1 |
MIMi | 609340, phenotype |
OpenTargetsi | ENSG00000100523 |
Orphaneti | 101008, Autosomal recessive spastic paraplegia type 28 |
PharmGKBi | PA134861440 |
Miscellaneous databases
Pharosi | Q8NEL9, Tbio |
Genetic variation databases
BioMutai | DDHD1 |
DMDMi | 37999716 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000079845 | 1 – 900 | Phospholipase DDHD1Add BLAST | 900 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 8 | PhosphoserineCombined sources | 1 | |
Modified residuei | 11 | PhosphoserineCombined sources | 1 | |
Modified residuei | 723 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q8NEL9 |
jPOSTi | Q8NEL9 |
MassIVEi | Q8NEL9 |
MaxQBi | Q8NEL9 |
PaxDbi | Q8NEL9 |
PeptideAtlasi | Q8NEL9 |
PRIDEi | Q8NEL9 |
ProteomicsDBi | 33905 73175 [Q8NEL9-1] 73176 [Q8NEL9-2] 73177 [Q8NEL9-3] |
PTM databases
iPTMneti | Q8NEL9 |
PhosphoSitePlusi | Q8NEL9 |
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
Bgeei | ENSG00000100523, Expressed in dorsal plus ventral thalamus and 213 other tissues |
ExpressionAtlasi | Q8NEL9, baseline and differential |
Genevisiblei | Q8NEL9, HS |
Organism-specific databases
HPAi | ENSG00000100523, Low tissue specificity |
Interactioni
Subunit structurei
Binary interactionsi
Hide detailsIsoform 2 [Q8NEL9-2]
With | #Exp. | IntAct |
---|---|---|
CR1L [Q2VPA4] | 3 | EBI-11062258,EBI-12330477 |
ZBTB24 [O43167] | 3 | EBI-11062258,EBI-744471 |
Protein-protein interaction databases
BioGRIDi | 123318, 28 interactors |
IntActi | Q8NEL9, 8 interactors |
STRINGi | 9606.ENSP00000327104 |
Miscellaneous databases
RNActi | Q8NEL9, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 611 – 886 | DDHDPROSITE-ProRule annotationAdd BLAST | 276 |
Sequence similaritiesi
Belongs to the PA-PLA1 family.Curated
Phylogenomic databases
eggNOGi | KOG2308, Eukaryota |
GeneTreei | ENSGT00940000156065 |
InParanoidi | Q8NEL9 |
OMAi | LPDEQWM |
OrthoDBi | 777968at2759 |
PhylomeDBi | Q8NEL9 |
TreeFami | TF314133 |
Family and domain databases
InterProi | View protein in InterPro IPR004177, DDHD_dom |
Pfami | View protein in Pfam PF02862, DDHD, 1 hit |
SMARTi | View protein in SMART SM01127, DDHD, 1 hit |
PROSITEi | View protein in PROSITE PS51043, DDHD, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q8NEL9-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A087X0H7 | A0A087X0H7_HUMAN | Phospholipase DDHD1 | DDHD1 | 771 | Annotation score: | ||
A0A669KAW5 | A0A669KAW5_HUMAN | Phospholipase DDHD1 | DDHD1 | 458 | Annotation score: | ||
A0A669KB51 | A0A669KB51_HUMAN | Phospholipase DDHD1 | DDHD1 | 668 | Annotation score: | ||
A0A6E1W401 | A0A6E1W401_HUMAN | Phospholipase DDHD1 | DDHD1 | 675 | Annotation score: | ||
G3V2P6 | G3V2P6_HUMAN | Phospholipase DDHD1 | DDHD1 | 92 | Annotation score: | ||
A0A669KB64 | A0A669KB64_HUMAN | Phospholipase DDHD1 | DDHD1 | 314 | Annotation score: |
Sequence cautioni
The sequence BAB21796 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence BAB71679 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 109 | G → GGG in AK125372 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 675 | H → R in AAH30703 (PubMed:15489334).Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_008628 | 1 – 418 | Missing in isoform 3. 2 PublicationsAdd BLAST | 418 | |
Alternative sequenceiVSP_045340 | 337 | D → DGSGINYS in isoform 4. Curated | 1 | |
Alternative sequenceiVSP_008629 | 813 – 841 | YFRLQ…DNALV → L in isoform 2, isoform 3 and isoform 4. 3 PublicationsAdd BLAST | 29 |
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 |
CCDSi | CCDS53895.1 [Q8NEL9-1] CCDS53896.1 [Q8NEL9-4] CCDS9714.1 [Q8NEL9-2] |
RefSeqi | NP_001153619.1, NM_001160147.1 [Q8NEL9-4] NP_001153620.1, NM_001160148.1 [Q8NEL9-1] NP_085140.2, NM_030637.2 [Q8NEL9-2] |
Genome annotation databases
Ensembli | ENST00000357758; ENSP00000350401; ENSG00000100523 [Q8NEL9-2] ENST00000395606; ENSP00000378970; ENSG00000100523 [Q8NEL9-4] ENST00000673822; ENSP00000500986; ENSG00000100523 [Q8NEL9-1] |
GeneIDi | 80821 |
KEGGi | hsa:80821 |
UCSCi | uc001xah.4, human [Q8NEL9-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
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 |
CCDSi | CCDS53895.1 [Q8NEL9-1] CCDS53896.1 [Q8NEL9-4] CCDS9714.1 [Q8NEL9-2] |
RefSeqi | NP_001153619.1, NM_001160147.1 [Q8NEL9-4] NP_001153620.1, NM_001160148.1 [Q8NEL9-1] NP_085140.2, NM_030637.2 [Q8NEL9-2] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 123318, 28 interactors |
IntActi | Q8NEL9, 8 interactors |
STRINGi | 9606.ENSP00000327104 |
Chemistry databases
SwissLipidsi | SLP:000001079 [Q8NEL9-2] |
PTM databases
iPTMneti | Q8NEL9 |
PhosphoSitePlusi | Q8NEL9 |
Genetic variation databases
BioMutai | DDHD1 |
DMDMi | 37999716 |
Proteomic databases
EPDi | Q8NEL9 |
jPOSTi | Q8NEL9 |
MassIVEi | Q8NEL9 |
MaxQBi | Q8NEL9 |
PaxDbi | Q8NEL9 |
PeptideAtlasi | Q8NEL9 |
PRIDEi | Q8NEL9 |
ProteomicsDBi | 33905 73175 [Q8NEL9-1] 73176 [Q8NEL9-2] 73177 [Q8NEL9-3] |
Protocols and materials databases
Antibodypediai | 23915, 38 antibodies |
Genome annotation databases
Ensembli | ENST00000357758; ENSP00000350401; ENSG00000100523 [Q8NEL9-2] ENST00000395606; ENSP00000378970; ENSG00000100523 [Q8NEL9-4] ENST00000673822; ENSP00000500986; ENSG00000100523 [Q8NEL9-1] |
GeneIDi | 80821 |
KEGGi | hsa:80821 |
UCSCi | uc001xah.4, human [Q8NEL9-1] |
Organism-specific databases
CTDi | 80821 |
DisGeNETi | 80821 |
GeneCardsi | DDHD1 |
HGNCi | HGNC:19714, DDHD1 |
HPAi | ENSG00000100523, Low tissue specificity |
MalaCardsi | DDHD1 |
MIMi | 609340, phenotype 614603, gene |
neXtProti | NX_Q8NEL9 |
OpenTargetsi | ENSG00000100523 |
Orphaneti | 101008, Autosomal recessive spastic paraplegia type 28 |
PharmGKBi | PA134861440 |
VEuPathDBi | HostDB:ENSG00000100523.14 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2308, Eukaryota |
GeneTreei | ENSGT00940000156065 |
InParanoidi | Q8NEL9 |
OMAi | LPDEQWM |
OrthoDBi | 777968at2759 |
PhylomeDBi | Q8NEL9 |
TreeFami | TF314133 |
Enzyme and pathway databases
BioCyci | MetaCyc:ENSG00000100523-MONOMER |
PathwayCommonsi | Q8NEL9 |
Reactomei | R-HSA-1483166, Synthesis of PA |
Miscellaneous databases
BioGRID-ORCSi | 80821, 12 hits in 994 CRISPR screens |
ChiTaRSi | DDHD1, human |
GenomeRNAii | 80821 |
Pharosi | Q8NEL9, Tbio |
PROi | PR:Q8NEL9 |
RNActi | Q8NEL9, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000100523, Expressed in dorsal plus ventral thalamus and 213 other tissues |
ExpressionAtlasi | Q8NEL9, baseline and differential |
Genevisiblei | Q8NEL9, HS |
Family and domain databases
InterProi | View protein in InterPro IPR004177, DDHD_dom |
Pfami | View protein in Pfam PF02862, DDHD, 1 hit |
SMARTi | View protein in SMART SM01127, DDHD, 1 hit |
PROSITEi | View protein in PROSITE PS51043, DDHD, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | DDHD1_HUMAN | |
Accessioni | Q8NEL9Primary (citable) accession number: Q8NEL9 Secondary accession number(s): G5E9D1 Q9C0F8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 24, 2003 |
Last sequence update: | October 24, 2003 | |
Last modified: | April 7, 2021 | |
This is version 147 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 14
Human chromosome 14: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families