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DDHD1 DDHD domain containing 1 [ Homo sapiens (human) ]

Gene ID: 80821, updated on 3-Jun-2018
Official Symbol
DDHD1provided by HGNC
Official Full Name
DDHD domain containing 1provided by HGNC
Primary source
HGNC:HGNC:19714
See related
Ensembl:ENSG00000100523 MIM:614603; Vega:OTTHUMG00000140305
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SPG28; PAPLA1; PA-PLA1
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]
Expression
Broad expression in testis (RPKM 6.6), lymph node (RPKM 2.8) and 24 other tissues See more
Orthologs
See DDHD1 in Genome Data Viewer
Location:
14q22.1
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (53036740..53153328, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (53503458..53620046, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370500 Neighboring gene fermitin family member 2 Neighboring gene NADH:ubiquinone oxidoreductase subunit B3 pseudogene 3 Neighboring gene uncharacterized LOC101927620 Neighboring gene uncharacterized LOC105370502

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Spastic paraplegia 28, autosomal recessive
MedGen: C1836295 OMIM: 609340 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
NHGRI GWA Catalog
  • Glycerophospholipid biosynthesis, organism-specific biosystem (from REACTOME)
    Glycerophospholipid biosynthesis, organism-specific biosystemGlycerophospholipids are important structural and functional components of biological membranes and constituents of serum lipoproteins and the pulmonary surfactant. In addition, glycerophospholipids...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Phospholipid metabolism, organism-specific biosystem (from REACTOME)
    Phospholipid metabolism, organism-specific biosystemPhospholipids contain a polar head group and two long-chain fatty acyl moieties, one of which is generally unsaturated. The head group is a glycerol or serine phosphate attached to a polar group such...
  • Synthesis of PA, organism-specific biosystem (from REACTOME)
    Synthesis of PA, organism-specific biosystemIn the de novo synthesis of phosphatidic acid (PA), lysophosphatidic acid (LPA) is initially formed by the esterification of sn-1 by glycerol 3-phosphate acyltransferase (GPAT) from glycerol 3-phosph...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ34209, FLJ42555

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
phospholipase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
lipid catabolic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of mitochondrial fission IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
Preferred Names
phospholipase DDHD1
Names
phosphatidic acid-preferring phospholipase A1 homolog
phosphatidic acid-preferring phospholipase A1-like protein
spastic paraplegia 28 (autosomal recessive)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_042832.1 RefSeqGene

    Range
    5001..121589
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001160147.1NP_001153619.1  phospholipase DDHD1 isoform b

    See identical proteins and their annotated locations for NP_001153619.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes an alternate in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (b) is longer than isoform a.
    Source sequence(s)
    AI871726, AK125372, AL352979, BC030703, DA212814
    Consensus CDS
    CCDS53896.1
    UniProtKB/Swiss-Prot
    Q8NEL9
    Related
    ENSP00000378970.1, OTTHUMP00000178998, ENST00000395606.5, OTTHUMT00000276900
    Conserved Domains (1) summary
    pfam02862
    Location:621864
    DDHD; DDHD domain
  2. NM_001160148.1NP_001153620.1  phospholipase DDHD1 isoform c

    See identical proteins and their annotated locations for NP_001153620.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) includes an alternate in-frame coding exon in the 3' coding region, compared to variant 1. The encoded isoform (c) is longer and differs at an amino acid in the C-terminal region compared to isoform a.
    Source sequence(s)
    AI871726, AK125556, AL352979, BC030703, BY796571, DA212814
    Consensus CDS
    CCDS53895.1
    UniProtKB/Swiss-Prot
    Q8NEL9
    Related
    ENSP00000327104.5, OTTHUMP00000178999, ENST00000323669.9, OTTHUMT00000276901
    Conserved Domains (1) summary
    pfam02862
    Location:614885
    DDHD; DDHD domain
  3. NM_030637.2NP_085140.2  phospholipase DDHD1 isoform a

    See identical proteins and their annotated locations for NP_085140.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shortest transcript and encodes the shortest isoform (a).
    Source sequence(s)
    AI871726, AK058137, AL352979, BC030703, DA212814
    Consensus CDS
    CCDS9714.1
    UniProtKB/Swiss-Prot
    Q8NEL9
    Related
    ENSP00000350401.3, OTTHUMP00000178997, ENST00000357758.3, OTTHUMT00000276899
    Conserved Domains (1) summary
    pfam02862
    Location:614857
    DDHD; DDHD domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

    Range
    53036740..53153328 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017021669.2XP_016877158.1  phospholipase DDHD1 isoform X7

  2. XM_005268105.3XP_005268162.1  phospholipase DDHD1 isoform X6

    Conserved Domains (1) summary
    pfam02862
    Location:571842
    DDHD; DDHD domain
  3. XM_017021668.2XP_016877157.1  phospholipase DDHD1 isoform X5

  4. XM_005268102.3XP_005268159.1  phospholipase DDHD1 isoform X2

    Conserved Domains (1) summary
    pfam02862
    Location:648919
    DDHD; DDHD domain
  5. XM_005268103.3XP_005268160.1  phospholipase DDHD1 isoform X4

    Conserved Domains (1) summary
    pfam02862
    Location:621892
    DDHD; DDHD domain
  6. XM_011537189.3XP_011535491.1  phospholipase DDHD1 isoform X3

    Conserved Domains (1) summary
    pfam02862
    Location:655898
    DDHD; DDHD domain
  7. XM_011537188.3XP_011535490.1  phospholipase DDHD1 isoform X1

    Conserved Domains (1) summary
    pfam02862
    Location:655926
    DDHD; DDHD domain
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