Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
80821
Gene name Gene Name - the full gene name approved by the HGNC.
DDHD domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DDHD1
Synonyms (NCBI Gene) Gene synonyms aliases
PA-PLA1, PAPLA1, SPG28, iPLA1I, iPLA1alpha
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614603 19714 ENSG00000100523
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hereditary spastic paraplegia Hereditary spastic paraplegia 28, Hereditary spastic paraplegia rs760208786, rs147133475, rs1446744416, rs2139850050, rs2139675094, rs2139806225 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Colorectal Cancer Colorectal cancer, Early onset colorectal cancer N/A N/A GWAS
Diabetes Triglyceride levels in non-type 2 diabetes N/A N/A GWAS
Endometriosis Endometriosis N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Associations from Text Mining Disease 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