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Ddhd1 Gene Detail
Summary
  • Symbol
    Ddhd1
  • Name
    DDHD domain containing 1
  • Synonyms
    4921528E07Rik, 9630061G18Rik, mKIAA1705
  • Feature Type
    protein coding gene
  • IDs
    MGI:2150302
    NCBI Gene: 114874
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:45593171-45658143 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 14, 23.14 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    619 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2150302
protein coding gene Chr14:45588467-45658143 (-)
129S1/SvImJ MGP_129S1SvImJ_G0021210
protein coding gene Chr14:39231477-39299403 (-)
A/J MGP_AJ_G0021157
protein coding gene Chr14:38078360-38147775 (-)
AKR/J MGP_AKRJ_G0021135
protein coding gene Chr14:39569538-39635739 (-)
BALB/cJ MGP_BALBcJ_G0021161
protein coding gene Chr14:38122233-38197998 (-)
C3H/HeJ MGP_C3HHeJ_G0020944
protein coding gene Chr14:39367924-39434216 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021595
protein coding gene Chr14:40953536-41018506 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019154
protein coding gene Chr14:37482876-37551661 (-)
CAST/EiJ MGP_CASTEiJ_G0020469
protein coding gene Chr14:36485033-36551737 (-)
CBA/J MGP_CBAJ_G0020910
protein coding gene Chr14:42245984-42313380 (-)
DBA/2J MGP_DBA2J_G0021033
protein coding gene Chr14:37988721-38054577 (-)
FVB/NJ MGP_FVBNJ_G0021018
protein coding gene Chr14:37749939-37816055 (-)
LP/J MGP_LPJ_G0021103
protein coding gene Chr14:39506705-39571689 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0021043
protein coding gene Chr14:41638244-41705586 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021628
protein coding gene Chr14:39106384-39177456 (-)
PWK/PhJ MGP_PWKPhJ_G0020218
protein coding gene Chr14:34856546-34922659 (-)
SPRET/EiJ MGP_SPRETEiJ_G0020042
protein coding gene Chr14:35263038-35332972 (-)
WSB/EiJ MGP_WSBEiJ_G0020525
protein coding gene Chr14:39208314-39274151 (-)



Homology
more
  • Human Ortholog
    DDHD1, DDHD domain containing 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    DDHD1, DDHD domain containing 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    PAPLA1, PA-PLA1, SPG28
  • Links
    NCBI Gene ID: 80821
    neXtProt AC: NX_Q8NEL9
    UniProt: Q8NEL9

  • Chr Location
    14q22.1; chr14:53036740-53153328 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 35221
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: DDHD1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human DDHD1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    10 phenotypes from 3 alleles in 2 genetic backgrounds
    2 images
    7 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a null allele show reduced testis weight, oligozoospermia, teratozoospermia, and male subfertility. Sperm defects include a disorganized mitochondrial structure, an abnormal gap between the middle and principal pieces, and hairpin flagellum leading to impaired sperm motility.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 114874 NCBI Gene Model | MGI Sequence Detail 64973 C57BL/6J ±  kb
    transcript NM_001042719 RefSeq | MGI Sequence Detail 5201 C57BL/6  
    polypeptide Q80YA3 UniProt | EBI | MGI Sequence Detail 547 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 16
      cDNA 16

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:2145869
    References
    more
    • Summaries
      All 32
      Developmental Gene Expression 1
      Gene Ontology 5
      Phenotypes 7
    • Earliest
      J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
    • Latest
      J:267848 Inloes JM, et al., The Spastic Paraplegia-Associated Phospholipase DDHD1 Is a Primary Brain Phosphatidylinositol Lipase. Biochemistry. 2018 Oct 2;57(39):5759-5767

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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    Funding Information
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    last database update
    08/13/2019
    MGI 6.14
    The Jackson Laboratory