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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
Location & Maps
more
  • Sequence Map
    Chr14:45593174-45658143 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      64970 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 14, 23.14 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    DDHD1, DDHD domain containing 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    DDHD1, DDHD domain containing 1
    Orthology source: HomoloGene
  • Synonyms
    PAPLA1, PA-PLA1, SPG28
  • Links
    NCBI Gene ID: 80821
    neXtProt AC: NX_Q8NEL9

  • Chr Location
    14q21; chr14:53036740-53153328 (-)  GRCh38.p2

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

Human Disease Mouse Models
       Spastic Paraplegia 28, Autosomal Recessive; SPG28   OMIM: 609340
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    8 phenotypes from 3 alleles in 2 genetic backgrounds
    2 images
    6 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    5
  • Chemically induced (other)
    1
  • Targeted
    4
  • Genomic Mutations
    1 involving Ddhd1
  • Incidental Mutations
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000023929 VEGA Gene Model | MGI Sequence Detail 64970 C57BL/6J ±  kb
transcript OTTMUST00000058571 VEGA | MGI Sequence Detail 3676 Not Applicable  
polypeptide OTTMUSP00000028395 VEGA | MGI Sequence Detail 918 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    619 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 15
    cDNA 15

    Microarray probesets 7
Other
Accession IDs
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MGI:2145869
References
more
  • Summaries
    All 30
    Developmental Gene Expression 1
    Gene Ontology 5
    Phenotypes 6
  • 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:212425 Baba T, et al., Phosphatidic acid (PA)-preferring phospholipase A1 regulates mitochondrial dynamics. J Biol Chem. 2014 Apr 18;289(16):11497-511

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory