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Ddhd1 DDHD domain containing 1 [ Mus musculus (house mouse) ]

Gene ID: 114874, updated on 11-Apr-2024

Summary

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Official Symbol
Ddhd1provided by MGI
Official Full Name
DDHD domain containing 1provided by MGI
Primary source
MGI:MGI:2150302
See related
Ensembl:ENSMUSG00000037697 AllianceGenome:MGI:2150302
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Mir5131; PA-PLA1
Summary
Predicted to enable phospholipase activity. Acts upstream of or within sperm mitochondrion organization. Predicted to be active in cytoplasm. Is expressed in several structures, including alimentary system; ganglia; nose; telencephalon; and vibrissa. Human ortholog(s) of this gene implicated in hereditary spastic paraplegia 28. Orthologous to human DDHD1 (DDHD domain containing 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis adult (RPKM 28.8), frontal lobe adult (RPKM 12.0) and 27 other tissues See more
Orthologs
human all
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Genomic context

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Location:
14 C1; 14 23.14 cM
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (45830628..45895600, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (45593171..45658143, complement)

Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4930527F14 gene Neighboring gene predicted pseudogene 5206 Neighboring gene predicted gene 15601 Neighboring gene predicted gene, 41145 Neighboring gene RIKEN cDNA A530076I17 gene Neighboring gene microRNA 5131 Neighboring gene predicted gene, 34360

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. The Spastic Paraplegia-Associated Phospholipase DDHD1 Is a Primary Brain Phosphatidylinositol Lipase. Inloes JM, et al. Biochemistry, 2018 Oct 2. PMID 30221923, Free PMC Article
  2. Phosphatidic acid (PA)-preferring phospholipase A1 regulates mitochondrial dynamics. Baba T, et al. J Biol Chem, 2014 Apr 18. PMID 24599962, Free PMC Article
  3. Ordered progression of stage-specific miRNA profiles in the mouse B2 B-cell lineage. Spierings DC, et al. Blood, 2011 May 19. PMID 21403133, Free PMC Article
  4. Identification of novel Ack1-interacting proteins and Ack1 phosphorylated sites in mouse brain by mass spectrometry. Del Mar Masdeu M, et al. Oncotarget, 2017 Nov 24. PMID 29254152, Free PMC Article
  5. Characterization of the zinc-induced Shank3 interactome of mouse synaptosome. Lee Y, et al. Biochem Biophys Res Commun, 2017 Dec 16. PMID 29111324

See all (24) citations in PubMed

GeneRIFs: Gene References Into Functions

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (3)  1 citation
  • Endonuclease-mediated (2) 

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • mKIAA1705, 4921528E07Rik, 9630061G18Rik

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables 1-acyl-2-lysophosphatidylserine acylhydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables phosphatidylserine 1-acylhydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables phospholipase A1 activity IEA
Inferred from Electronic Annotation
more info
  
enables phospholipase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within lipid metabolic process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within positive regulation of mitochondrial fission ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within sperm mitochondrion organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
phospholipase DDHD1
Names
DDHD domain-containing protein 1
phosphatidic acid-preferring phospholipase A1 homolog
phospholipid sn-1 acylhydrolase
NP_001034195.2
NP_001036184.1
NP_001271328.1
NP_789815.3

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001039106.3 → NP_001034195.2  phospholipase DDHD1 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) lacks two in-frame exons in the coding region, compared to variant 3. The encoded isoform (1) is shorter, compared to isoform 3.
    Source sequence(s)
    AC107711, AK036369, AK048690, BC043475
    Consensus CDS
    CCDS26978.1
    UniProtKB/TrEMBL
    F8WHP5, Q2XP44
    Related
    ENSMUSP00000050088.7, ENSMUST00000051310.13
    Conserved Domains (1) summary
    pfam02862
    Location:598 → 841
    DDHD; DDHD domain

  2. NM_001042719.2 → NP_001036184.1  phospholipase DDHD1 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
    Source sequence(s)
    AC107711, AK036369, AK048690, BC043475
    Consensus CDS
    CCDS36895.1
    UniProtKB/TrEMBL
    F8WIJ5, Q2XP45
    Related
    ENSMUSP00000084577.6, ENSMUST00000087320.13
    Conserved Domains (1) summary
    pfam02862
    Location:632 → 903
    DDHD; DDHD domain

  3. NM_001284399.1 → NP_001271328.1  phospholipase DDHD1 isoform 4

    See identical proteins and their annotated locations for NP_001271328.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in its 5' UTR and initiates translation at a downstream start codon, compared to variant 3. The encoded isoform (4) has a shorter N-terminus, compared to isoform 3.
    Source sequence(s)
    AC107711, AK036369, AK048690, BC043475, CK619141
    UniProtKB/Swiss-Prot
    Q80YA3, Q8VEF2
    UniProtKB/TrEMBL
    Q6ZPJ9
    Conserved Domains (1) summary
    pfam02862
    Location:261 → 532
    DDHD; DDHD domain

  4. NM_176845.5 → NP_789815.3  phospholipase DDHD1 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 3. The encoded isoform (2) is shorter, compared to isoform 3.
    Source sequence(s)
    AC107711, AK036369, AK048690, BC043475
    Consensus CDS
    CCDS36894.1
    UniProtKB/TrEMBL
    E9QQ38, Q2XP45
    Related
    ENSMUSP00000107459.3, ENSMUST00000111828.4
    Conserved Domains (1) summary
    pfam02862
    Location:598 → 869
    DDHD; DDHD domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000080.7 Reference GRCm39 C57BL/6J

    Range
    45830628..45895600 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q80YA3.1 GenPept UniProtKB/Swiss-Prot:Q80YA3

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