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

Gene ID: 80821, updated on 13-Mar-2020

Summary

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
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

Genomic context

See DDHD1 in Genome Data Viewer
Location:
14q22.1
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (53036755..53153323, 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

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Spastic paraplegia 28, autosomal recessive
MedGen: C1836295 OMIM: 609340 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
lipid catabolic process IEA
Inferred from Electronic Annotation
more info
 
phosphatidic acid biosynthetic process TAS
Traceable Author Statement
more info
 
positive regulation of mitochondrial fission IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
phospholipase DDHD1
Names
phosphatidic acid-preferring phospholipase A1 homolog
phosphatidic acid-preferring phospholipase A1-like protein
spastic paraplegia 28 (autosomal recessive)

NCBI Reference Sequences (RefSeq)

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
    5006..121574
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001160147.2NP_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, ENST00000395606.5
    Conserved Domains (1) summary
    pfam02862
    Location:621864
    DDHD; DDHD domain
  2. NM_001160148.2NP_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
    ENSP00000500986.1, ENST00000673822.1
    Conserved Domains (1) summary
    pfam02862
    Location:614885
    DDHD; DDHD domain
  3. NM_030637.3NP_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, ENST00000357758.3
    Conserved Domains (1) summary
    pfam02862
    Location:614857
    DDHD; DDHD domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    53036755..53153323 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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