Gene Gene information from NCBI Gene database.
Entrez ID 80821
Gene name DDHD domain containing 1
Gene symbol DDHD1
Synonyms (NCBI Gene)
PA-PLA1PAPLA1SPG28iPLA1IiPLA1alpha
Chromosome 14
Chromosome location 14q22.1
Summary This gene is a member of the intracellular phospholipase A1 gene family. The protein encoded by this gene preferentially hydrolyzes phosphatidic acid. It is a cytosolic protein with some mitochondrial localization, and is thought to be involved in the reg
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs147133475 C>A,T Likely-pathogenic Coding sequence variant, missense variant, intron variant
rs760208786 ->A Likely-pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
835
miRTarBase ID miRNA Experiments Reference
MIRT026938 hsa-miR-192-5p Microarray 19074876
MIRT048694 hsa-miR-99a-5p CLASH 23622248
MIRT047287 hsa-miR-181b-5p CLASH 23622248
MIRT720303 hsa-miR-7151-5p HITS-CLIP 19536157
MIRT720302 hsa-miR-4712-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0004620 Function Phospholipase activity IBA
GO:0005515 Function Protein binding IPI 17428803, 32296183
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614603 19714 ENSG00000100523
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NEL9
Protein name Phospholipase DDHD1 (EC 3.1.1.111) (EC 3.1.1.32) (DDHD domain-containing protein 1) (Phosphatidic acid-preferring phospholipase A1 homolog) (PA-PLA1) (EC 3.1.1.118) (Phospholipid sn-1 acylhydrolase)
Protein 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-pho
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02862 DDHD 611 885 DDHD domain Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in testis. Also expressed in brain, spleen and lung. Only expressed in cerebellum in fetal brain. {ECO:0000269|PubMed:9488669}.
Sequence
MNYPGRGSPRSPEHNGRGGGGGAWELGSDARPAFGGGVCCFEHLPGGDPDDGDVPLALLR
GEPGLHLAPGTDDHNHHLALDPCLSDENYDFSSAESGSSLRYYSEGESGGGGSSLSLHPP
QQPPLVPTNSGGGGATGGSPGERKRTRLGGPAARHRYEVVTELGPEEVRWFYKEDKKTWK
PFIGYDSLRIELAFRTLLQTTGARPQGGDRDGDHVCSPTGPASSSGEDDDEDRACGFCQS
TTGHEPEMVELVNIEPVCVRGGLYEVDVTQGECYPVYWNQADKIPVMRGQWFIDGTWQPL
EEEESNLIEQEHLNCFRGQQMQENFDIEVSKSIDGKDAVHSFKLSRNHVDWHSVDEVYLY
SDATTSKIARTVTQKLGFSKASSSGTRLHRGYVEEATLEDKPSQTTHIVFVVHGIGQKMD
QGRIIKNTAMMREAARKIEERHFSNHATHVEFLPVEWRSKLTLDGDTVDSITPDKVRGLR
DMLNSSAMDIMYYTSPLYRDELVKGLQQELNRLYSLFCSRNPDFEEKGGKVSIVSHSLGC
VITYDIMTGWNPVRLYEQLLQKEEELPDERWMSYEERHLLDELYITKRRLKEIEERLHGL
KASSMTQTPALKFKVENFFCMGSPLAVFLALRGIRPGNTGSQDHILPREICNRLLNIFHP
TDPVAYRLEPLILKHYSNISPVQIHWYNTSNPLPYEHMKPSFLNPAKEPTSVSENEGIST
IPSPVTSPVLSRRHYGESITNIGKASILGAASIGKGLGGMLFSRFGRSSTTQSSETSKDS
MEDEKKPVASPSATTVGTQTLPHSSSGFLDSAYFRLQESFFNLPQLLFPENVMQNKDNAL
VELDHRIDFELREGLVESRYWSAVTSHTAYWSSLDVALFLLTFMY
KHEHDDDAKPNLDPI
Sequence length 900
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Synthesis of PA
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
400
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Pathogenic rs1446744416 RCV005888871
Hereditary spastic paraplegia Likely pathogenic; Pathogenic rs760208786 RCV001848852
Hereditary spastic paraplegia 28 Pathogenic; Likely pathogenic rs2139941138, rs2139870889, rs2139861782, rs776191400, rs2503144489, rs2503574858, rs781505420, rs2503565184, rs2503054402, rs760208786, rs1446744416, rs2139850050, rs2139675094, rs2139806225, rs147133475
View all (5 more)
RCV001383663
RCV001450100
RCV001728084
RCV003069963
RCV002846179
RCV002866127
RCV003023068
RCV003536188
RCV003649836
RCV001216840
RCV000032875
RCV000032876
RCV000032877
RCV000032878
RCV000985169
RCV001223967
RCV001226423
RCV001391443
RCV001391442
RCV001391441
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity rs367621941 RCV005899548
DDHD1-related disorder Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity rs201393353, rs577522938, rs760802002, rs375235517, rs777615996, rs546774166, rs144016130, rs553631939 RCV003926448
RCV003936492
RCV004758274
RCV003946536
RCV003913832
RCV003959998
RCV003925642
RCV003955674
Gastric cancer Uncertain significance rs202213647 RCV005932522
Sarcoma Benign; Likely benign rs192493244 RCV005916281
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alcoholic Neuropathy Associate 24989667
Autism Spectrum Disorder Associate 31209396
Brain Diseases Metabolic Associate 24989667
Colorectal Neoplasms Associate 32571262
Glioma Associate 40593136
Hereditary Sensory and Autonomic Neuropathy Type Ie Associate 24989667
Metabolic Diseases Associate 24989667
Neoplastic Syndromes Hereditary Associate 24989667
Spastic Paraplegia Hereditary Associate 23176821, 34089703
Spinocerebellar Ataxias Associate 24989667