• Gene id: 80821

Gene Summary

• Gene Symbol: DDHD1   Gene   UCSC   Ensembl
• Aliases: PA-PLA1, PAPLA1, SPG28
• Gene name: DDHD domain containing 1
• Alternate names: phospholipase DDHD1, phosphatidic acid-preferring phospholipase A1 homolog, phosphatidic acid-preferring phospholipase A1-like protein, spastic paraplegia 28 (autosomal recessive),
• Gene location: 14q22.1 (53153322: 53036754)     Exons: 15     NC_000014.9
• Gene summary(Entrez): 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
• OMIM: 614603

Protein Summary

• Protein general information: Q8NEL9  
  • Name: Phospholipase DDHD1 (EC 3.1.1. ) (DDHD domain containing protein 1) (Phosphatidic acid preferring phospholipase A1 homolog) (PA PLA1)
  • Length: 900  
  • Mass: 100435
  • Tissue specificity: Highly expressed in testis. Also expressed in brain, spleen and lung. Only expressed in cerebellum in fetal brain. {ECO
• Sequence:

  MNYPGRGSPRSPEHNGRGGGGGAWELGSDARPAFGGGVCCFEHLPGGDPDDGDVPLALLRGEPGLHLAPGTDDHN
  HHLALDPCLSDENYDFSSAESGSSLRYYSEGESGGGGSSLSLHPPQQPPLVPTNSGGGGATGGSPGERKRTRLGG
  PAARHRYEVVTELGPEEVRWFYKEDKKTWKPFIGYDSLRIELAFRTLLQTTGARPQGGDRDGDHVCSPTGPASSS
  GEDDDEDRACGFCQSTTGHEPEMVELVNIEPVCVRGGLYEVDVTQGECYPVYWNQADKIPVMRGQWFIDGTWQPL
  EEEESNLIEQEHLNCFRGQQMQENFDIEVSKSIDGKDAVHSFKLSRNHVDWHSVDEVYLYSDATTSKIARTVTQK
  LGFSKASSSGTRLHRGYVEEATLEDKPSQTTHIVFVVHGIGQKMDQGRIIKNTAMMREAARKIEERHFSNHATHV
  EFLPVEWRSKLTLDGDTVDSITPDKVRGLRDMLNSSAMDIMYYTSPLYRDELVKGLQQELNRLYSLFCSRNPDFE
  EKGGKVSIVSHSLGCVITYDIMTGWNPVRLYEQLLQKEEELPDERWMSYEERHLLDELYITKRRLKEIEERLHGL
  KASSMTQTPALKFKVENFFCMGSPLAVFLALRGIRPGNTGSQDHILPREICNRLLNIFHPTDPVAYRLEPLILKH
  YSNISPVQIHWYNTSNPLPYEHMKPSFLNPAKEPTSVSENEGISTIPSPVTSPVLSRRHYGESITNIGKASILGA
  ASIGKGLGGMLFSRFGRSSTTQSSETSKDSMEDEKKPVASPSATTVGTQTLPHSSSGFLDSAYFRLQESFFNLPQ
  LLFPENVMQNKDNALVELDHRIDFELREGLVESRYWSAVTSHTAYWSSLDVALFLLTFMYKHEHDDDAKPNLDPI

• Structural information:
  • Protein Domains: (611..88-)
    (/note="DDHD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00378"-)
  • Interpro: IPR004177  
  • Prosite: PS51043
  • STRING: ENSP00000327104
• Other Databases: GeneCards:  DDHD1  Malacards:  DDHD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0004620	phospholipase activity	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016042	lipid catabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0090141	positive regulation of mitochondrial fission	IDA	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0006654	phosphatidic acid biosynthetic process	TAS	biological process
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Hereditary spastic paraplegia	KEGG:H00266
Hereditary spastic paraplegia	KEGG:H00266
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray