DDHD1 - DDHD domain containing 1 Gene

Also Known as SPG28; PAPLA1; iPLA1I; PA-PLA1; iPLA1alpha

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 80821

About DDHD1

Cytogenetic location: 14q22.1 Genomic coordinates (GRCh38): 14:53,036,755-53,153,323 (from NCBI)

This gene has 15 transcripts (splice variants), 275 orthologues, 2 paralogues and is associated with 3 phenotypes. Broad expression in testis (RPKM 6.6), lymph node (RPKM 2.8) and 24 other tissues.

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 regulation of mitochondrial dynamics. Overexpression of this gene causes fragmentation of the tubular structures in mitochondria, while depletion of the gene results in mitochondrial tubule elongation. Deletion of this gene in male mice caused fertility defects, resulting from disruption in the organization of the mitochondria during spermiogenesis. In humans, mutations in this gene have been associated with hereditary spastic paraplegia (HSP), also known as Strumpell-Lorrain disease, or, familial spastic paraparesis (FSP). This inherited disorder is characterized by progressive weakness and spasticity of the legs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

DDHD1 Products (3)

mRNA	Protein	Name
NM_001160147.2	NP_001153619.1	phospholipase DDHD1 isoform b
NM_001160148.2	NP_001153620.1	phospholipase DDHD1 isoform c
NM_030637.3	NP_085140.2	phospholipase DDHD1 isoform a

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17428803	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
acts upstream of or within positive regulation of mitochondrial fission	IDA IDA: Inferred from direct assay	24599962	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DDHD1 Protein Structure

DDHD

0
200
400
600
800
900 a.a.

Protein Preferred Names	Protein Names
phospholipase DDHD1	intracellular phospholipase A1 alpha

Related Diseases

Diseases	Alias
Spastic Paraplegia 28, Autosomal Recessive	SPG28 Hereditary Spastic Paraplegia 28 Autosomal Recessive Spastic Paraplegia Type 28 Autosomal Recessive Spastic Paraplegia 28 Paraplegia, Spastic, Type 28, Autosomal Recessive
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Paraplegia	Paraplegia, Lower Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
Spastic Paraplegia 54, Autosomal Recessive	SPG54 Hereditary Spastic Paraplegia 54 Autosomal Recessive Spastic Paraplegia Type 54 Autosomal Recessive Spastic Paraplegia 54 Paraplegia, Spastic, Type 54, Autosomal Recessive
Spastic Paraparesis
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	SEMDJL2 Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type Spondyloepimetaphyseal Dysplasia With Multiple Dislocations, Hall Type Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 2 Spondyloepimetaphyseal Dysplasia With Multiple Dislocations Hall Type Spondyloepimetaphyseal Dysplasia With Joint Laxity, Hall Type Semd-Md Spondyloepimetaphyseal Dysplasia With Joint Laxicity, Hall Type Spondyloepimetaphyseal Dysplasia With Joint Laxity, 2 Lepto-Semdjl Spondyloepimetaphyseal Dysplasia With Joint Laxity Hall Type Spondyloepimetaphyseal Dysplasia With Joint Laxity Leptodactylic Type Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Spasticity
Spastic Paraplegia 73, Autosomal Dominant	SPG73 Hereditary Spastic Paraplegia 73 Autosomal Dominant Spastic Paraplegia Type 73 Autosomal Dominant Spastic Paraplegia 73 Paraplegia, Spastic, Autosomal Dominant, Type 73
Spastic Paraplegia 43, Autosomal Recessive	SPG43 Hereditary Spastic Paraplegia 43 Autosomal Recessive Spastic Paraplegia Type 43 Autosomal Recessive Spastic Paraplegia 43 Paraplegia, Spastic, Type 43, Autosomal Recessive
Spastic Paraplegia 77, Autosomal Recessive	SPG77 Hereditary Spastic Paraplegia 77 Autosomal Recessive Spastic Paraplegia 77 Autosomal Recessive Spastic Paraplegia Type 77
Neuronopathy, Distal Hereditary Motor, Type Va	Dsmav Distal Hereditary Motor Neuropathy Type V Young Adult-Onset Distal Hereditary Motor Neuropathy Neuronopathy, Distal Hereditary Motor, Type V Distal Hereditary Motor Neuronopathy Type 5 Dhmn5 Distal Spinal Muscular Atrophy Type 5 HMN5A Hmn5 Dhmn5a Dhmn Va Dsmava Spinal Muscular Atrophy, Distal, With Upper Limb Predominance Distal Hmn V Autosomal Recessive Distal Spinal Muscular Atrophy Type 5 Dsma5 Young Adult-Onset Dhmn Dhmn-V Hmn V Neuronopathy, Distal Hereditary Motor, Type 5a Hmn 5a Neuropathy, Distal Hereditary Motor, Type Va Spinal Muscular Atrophy, Distal, Type Va Spinal Muscular Atrophy, Distal, Type V Distal Spinal Muscular Atrophy Type V Distal Spinal Muscular Atrophy With Upper Limb Predominance Distal Hereditary Motor Neuronopathy Type 5a Distal Hmn Va Distal Spinal Muscular Atrophy Type Va Distal Hereditary Motor Neuropathy, Type V Distal Hereditary Motor Neuronopathy, Type V Distal Spinal Muscular Atrophy, Type V Spinal Muscular Atrophy, Distal Type V Distal Hereditary Motor Neuropathy Type 5 Neuronopathy, Distal Hereditary Motor, 5a Dhmn V Distal Hereditary Motor Neuronopathy Type Va Distal Hereditary Motor Neuropathy Type Va Dsma-V Hmn Va Spinal Muscular Atrophy Distal Type V Spinal Muscular Atrophy Distal Type Va Spinal Muscular Atrophy Distal With Upper Limb Predominance Neuropathy, Distal Hereditary Motor, Type V Neuropathy, Motor, Distal, Hereditary, Type Va
Hereditary Spastic Paraplegia 49	Autosomal Recessive Spastic Paraplegia Type 49 Autosomal Recessive Spastic Paraplegia 49 Spg49 Paraplegia, Spastic, Type 49, Autosomal Recessive
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome SMDCRD Smd-Crd Dysplasia, Spondylometaphyseal, With Cone-Rod Dystrophy
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Megdel Syndrome MEGDEL Mgca6 3-Methylglutaconic Aciduria With Dystonia-Deafness, Hepatopathy, Encephalopathy, And Leigh-Like Syndrome Megdhel 3-Methylglutaconic Aciduria, Type Vi Serac1 Defect 3-Methylglutaconic Aciduria Type 6 3-Mgca Type Iv 3-Mgca-4 3-Methylglutaconic Aciduria Type Vi 3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy, And Leigh-Like Syndrome Megdhel Syndrome 3-Methylglutaconic Aciduria With Deafness-Encephalopathy-Leigh-Like Syndrome 3-Methylglutaconic Aciduria With Hearing Loss-Encephalopathy-Leigh-Like Syndrome 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, Leigh-Like Syndrome 3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome
Spastic Paraplegia 62, Autosomal Recessive	SPG62 Hereditary Spastic Paraplegia 62 Autosomal Recessive Spastic Paraplegia Type 62 Spastic Paraplegia 62 Autosomal Recessive Spastic Paraplegia 62 Paraplegia, Spastic, Type 62
Spastic Paraplegia 55, Autosomal Recessive	SPG55 Hereditary Spastic Paraplegia 55 Autosomal Recessive Spastic Paraplegia Type 55 Autosomal Recessive Spastic Paraplegia 55 Paraplegia, Spastic, Autosomal Recessive, Type 55
Spastic Paraplegia 82, Autosomal Recessive	SPG82 Hereditary Spastic Paraplegia 82 Spastic Paraplegia 82 Autosomal Recessive Doid:0112343
Spastic Paraplegia 18, Autosomal Recessive	SPG18 Idmdc Hereditary Spastic Paraplegia 18 Intellectual Disability, Motor Dysfunction, And Joint Contractures Autosomal Recessive Spastic Paraplegia Type 18 Autosomal Recessive Spastic Paraplegia 18 Intellectual Disability, Motor Dysfunction And Joint Contractures Spastic Paraplegia 18 Intellectual Disability Motor Dysfunction And Joint Contractures Paraplegia, Spastic, Type 18
Optic Atrophy 9	OPA9 Atrophy, Optic, Type 9
Hereditary Spastic Paraplegia 35	Autosomal Recessive Spastic Paraplegia Type 35 Spg35 Autosomal Recessive Spastic Paraplegia 35 Fahn Fatty Acid Hydroxylase-Associated Neurodegeneration Leukodystrophy, Dysmyelinating And Spastic Paraparesis With Or Without Dystonia
Spastic Paraplegia 13, Autosomal Dominant	SPG13 Hereditary Spastic Paraplegia 13 Autosomal Dominant Spastic Paraplegia 13 Spastic Paraplegia 13 Autosomal Dominant Spastic Paraplegia Type 13 Spastic Paraplegia-13 Paraplegia, Spastic, Type 13
Spastic Paraplegia 57, Autosomal Recessive	SPG57 Hereditary Spastic Paraplegia 57 Autosomal Recessive Spastic Paraplegia Type 57 Autosomal Recessive Spastic Paraplegia 57 Spastic Paraplegia Due To Partial Tfg Deficiency Paraplegia, Spastic, Type 57, Autosomal Recessive
Agnathia-Otocephaly Complex	Otocephaly Holoprosencephaly-Agnathia Dysgnathia Complex Agnathia-Holoprosencephaly AGOTC Agnathia-Holoprosencephaly-Situs Inversus Syndrome Dysgnathia Complex Agnathia-Holoprosencephaly Cervical Auricle
Lenz-Majewski Hyperostotic Dwarfism	Lenz-Majewski Syndrome Lenz Majewski Hyperostotic Dwarfism LMHD Hyperostotic Dwarfism Lenz-Majewski Type Lenz-Majewski Hyperostotic Dysplasia Multiple Congenital Anomalies, Intellectual Disability And Progressive Skeletal Sclerosis Lms
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Pharc Syndrome PHARC Polyneyropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract Polyneuropathy-Hearing Loss-Ataxia-Retinitis Pigmentosa-Cataract Syndrome Peripheral Neuropathy, Fiskerstrand Type Polyneuropathy-Deafness-Ataxia-Retinitis Pigmentosa-Cataract Syndrome Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, Cataract
Gordon Holmes Syndrome	Cerebellar Ataxia And Hypogonadotropic Hypogonadism Lhrh Deficiency And Ataxia Cerebellar Ataxia-Hypogonadism Syndrome GDHS Cahh Luteinizing Hormone-Releasing Hormone Deficiency With Ataxia Gordon-Holmes Syndrome Deficiency Of Luteinizing Hormone-Releasing Hormone With Ataxia Luteinizing Hormone-Releasing Hormone, Deficiency Of, With Ataxia Cerebellar Ataxia - Hypogonadism Luteinizing Hormone Releasing Hormone, Deficiency Of With Ataxia Ataxia, Cerebellar, And Hypogonadotropic Hypogonadism
Spastic Paraplegia 10, Autosomal Dominant	SPG10 Hereditary Spastic Paraplegia 10 Autosomal Dominant Spastic Paraplegia Type 10 Spastic Paraplegia 10 Spastic Paraplegia 10 With Or Without Peripheral Neuropathy Autosomal Dominant Spastic Paraplegia 10 Autosomal Dominant Spastic Paraplegia Spastic Paraplegia, Autosomal Dominant Paraplegia, Spastic, Autosomal Dominant, Type 10
Sengers Syndrome	Mitochondrial Dna Depletion Syndrome 10 Cardiomyopathy And Cataract Cataract And Cardiomyopathy MTDPS10 Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome Cardiomyopathic Mitochondrial Dna Depletion Syndrome 10 Senger Syndrome
Spastic Ataxia	Spax Ataxia, Spastic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS03609	DDHD1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	DDHD1	VGNC	VGNC:80990
Mus musculus	DDHD1	MGD	MGI:2150302
Rattus norvegicus	DDHD1	RGD	RGD:1308576
Canis familiaris	DDHD1	VGNC	VGNC:39832
Macaca mulatta	DDHD1	VGNC	VGNC:71677
Bos taurus	DDHD1	VGNC	VGNC:27943
Others	DDHD1	NCBI