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

    Gene ID: 114874, updated on 2-Nov-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 cerebral cortex; foregut; ganglia; nose; and tooth. 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, Nov 2024]
    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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    See Ddhd1 in Genome Data Viewer
    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 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. LPGAT1/LPLAT7 regulates acyl chain profiles at the sn-1 position of phospholipids in murine skeletal muscles. Sato T, et al. J Biol Chem, 2023 Jul. PMID 37217003, Free PMC Article
    3. Phosphatidic acid (PA)-preferring phospholipase A1 regulates mitochondrial dynamics. Baba T, et al. J Biol Chem, 2014 Apr 18. PMID 24599962, Free PMC Article
    4. 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
    5. 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

    See all (28) 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)
    • Endonuclease-mediated (2) 
    • Targeted (3)  1 citation

    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 metal ion binding 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
    involved_in phosphatidylinositol 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
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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