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

    Gene ID: 80821, updated on 17-Jun-2024

    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; AllianceGenome:HGNC:19714
    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; iPLA1I; PA-PLA1; iPLA1alpha
    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
    NEW
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    Genomic context

    See DDHD1 in Genome Data Viewer
    Location:
    14q22.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (53036755..53153323, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (47244731..47361295, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (53503473..53620041, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370500 Neighboring gene Sharpr-MPRA regulatory region 8176 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:53350617-53351142 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:53351143-53351668 Neighboring gene FERM domain containing kindlin 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8398 Neighboring gene Sharpr-MPRA regulatory region 10339 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5751 Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:53418467-53419045 Neighboring gene NADH:ubiquinone oxidoreductase subunit B3 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8399 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8400 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8401 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5752 Neighboring gene uncharacterized LOC105370502 Neighboring gene DDHD1 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8402 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8403 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5753

    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
    Hereditary spastic paraplegia 28
    MedGen: C1836295 OMIM: 609340 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ34209, FLJ42555

    Gene Ontology Provided by GOA

    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
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    phospholipase DDHD1
    Names
    intracellular phospholipase A1 alpha
    phosphatidic acid-preferring phospholipase A1 homolog
    phosphatidic acid-preferring phospholipase A1-like protein
    phospholipid sn-1 acylhydrolase
    spastic paraplegia 28 (autosomal recessive)
    NP_001153619.1
    NP_001153620.1
    NP_085140.2
    XP_005268159.1
    XP_005268160.1
    XP_005268162.1
    XP_011535490.1
    XP_011535491.1
    XP_016877157.1
    XP_016877158.1
    XP_054232734.1
    XP_054232735.1
    XP_054232736.1
    XP_054232737.1
    XP_054232738.1
    XP_054232739.1
    XP_054232740.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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/TrEMBL
      Q2PNX9
      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
      G5E9D1, Q8NEL9, Q8WVH3, Q96LL2, Q9C0F8
      UniProtKB/TrEMBL
      D3K5P3
      Related
      ENSP00000500986.2, ENST00000673822.2
      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/TrEMBL
      Q2PNX9
      Related
      ENSP00000350401.3, ENST00000357758.3
      Conserved Domains (1) summary
      pfam02862
      Location:614857
      DDHD; DDHD domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 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

      UniProtKB/TrEMBL
      Q2PNX9
    2. XM_005268105.3XP_005268162.1  phospholipase DDHD1 isoform X6

      UniProtKB/TrEMBL
      D3K5P3
      Conserved Domains (1) summary
      pfam02862
      Location:571842
      DDHD; DDHD domain
    3. XM_017021668.2XP_016877157.1  phospholipase DDHD1 isoform X5

      UniProtKB/TrEMBL
      Q2PNX9
    4. XM_005268102.3XP_005268159.1  phospholipase DDHD1 isoform X2

      UniProtKB/TrEMBL
      D3K5P3
      Conserved Domains (1) summary
      pfam02862
      Location:648919
      DDHD; DDHD domain
    5. XM_005268103.3XP_005268160.1  phospholipase DDHD1 isoform X4

      UniProtKB/TrEMBL
      D3K5P3
      Conserved Domains (1) summary
      pfam02862
      Location:621892
      DDHD; DDHD domain
    6. XM_011537189.3XP_011535491.1  phospholipase DDHD1 isoform X3

      UniProtKB/TrEMBL
      Q2PNX9
      Conserved Domains (1) summary
      pfam02862
      Location:655898
      DDHD; DDHD domain
    7. XM_011537188.3XP_011535490.1  phospholipase DDHD1 isoform X1

      UniProtKB/TrEMBL
      D3K5P3
      Conserved Domains (1) summary
      pfam02862
      Location:655926
      DDHD; DDHD domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      47244731..47361295 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376765.1XP_054232740.1  phospholipase DDHD1 isoform X7

      UniProtKB/TrEMBL
      Q2PNX9
    2. XM_054376764.1XP_054232739.1  phospholipase DDHD1 isoform X6

      UniProtKB/TrEMBL
      D3K5P3
    3. XM_054376763.1XP_054232738.1  phospholipase DDHD1 isoform X5

      UniProtKB/TrEMBL
      Q2PNX9
    4. XM_054376760.1XP_054232735.1  phospholipase DDHD1 isoform X2

      UniProtKB/TrEMBL
      D3K5P3
    5. XM_054376762.1XP_054232737.1  phospholipase DDHD1 isoform X4

      UniProtKB/TrEMBL
      D3K5P3
    6. XM_054376761.1XP_054232736.1  phospholipase DDHD1 isoform X3

      UniProtKB/TrEMBL
      Q2PNX9
    7. XM_054376759.1XP_054232734.1  phospholipase DDHD1 isoform X1

      UniProtKB/TrEMBL
      D3K5P3