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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cervical cancer Pathogenic rs1446744416 RCV005888871
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia Likely pathogenic; Pathogenic rs760208786 RCV001848852
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (15 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 28 Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Autism Spectrum Disorder Autism Pubtator 31209396 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders Autism Spectrum Disorder CTD_human_DG 31209396
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autosomal Recessive Hereditary Spastic Paraplegia Spastic paraplegia BEFREE 15786464
★☆☆☆☆
Found in Text Mining only
Autosomal recessive spastic paraplegia type 28 Spastic Paraplegia Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Brain Diseases Metabolic Brain disease Pubtator 24989667 Associate
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 29653539
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 29653539
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 32571262 Associate
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 40593136 Associate
★☆☆☆☆
Found in Text Mining only
Henoch-Schoenlein Purpura Henoch-Schonlein Nephritis BEFREE 23176821, 26944165, 28422159, 28818478, 30221923
★☆☆☆☆
Found in Text Mining only