ENSG00000100523


Homo sapiens

Features
Gene ID: ENSG00000100523
  
Biological name :DDHD1
  
Synonyms : DDHD1 / DDHD domain containing 1 / Q8NEL9
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 14
Strand: -1
Band: q22.1
Gene start: 53036745
Gene end: 53153282
  
Corresponding Affymetrix probe sets: 225965_at (Human Genome U133 Plus 2.0 Array)   225970_at (Human Genome U133 Plus 2.0 Array)   225971_at (Human Genome U133 Plus 2.0 Array)   243705_at (Human Genome U133 Plus 2.0 Array)   244154_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000327104
Ensembl peptide - ENSP00000378970
Ensembl peptide - ENSP00000450785
Ensembl peptide - ENSP00000483405
Ensembl peptide - ENSP00000350401
NCBI entrez gene - 80821     See in Manteia.
OMIM - 614603
RefSeq - XM_017021669
RefSeq - XM_005268102
RefSeq - XM_005268103
RefSeq - XM_005268105
RefSeq - XM_011537188
RefSeq - XM_011537189
RefSeq - XM_017021668
RefSeq - NM_001160147
RefSeq - NM_001160148
RefSeq - NM_030637
RefSeq Peptide - NP_085140
RefSeq Peptide - NP_001153619
RefSeq Peptide - NP_001153620
swissprot - G3V2P6
swissprot - Q8NEL9
swissprot - A0A087X0H7
Ensembl - ENSG00000100523
  
Related genetic diseases (OMIM): 609340 - Spastic paraplegia 28, autosomal recessive, 609340
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ddhd1aENSDARG00000086808Danio rerio
 ddhd1bENSDARG00000037042Danio rerio
 DDHD1ENSGALG00000012426Gallus gallus
 Ddhd1ENSMUSG00000037697Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q9Y6Y8 / SEC23IP / SEC23 interacting proteinENSG0000010765122
DDHD2 / O94830 / DDHD domain containing 2ENSG0000008578819


Protein motifs (from Interpro)
Interpro ID Name
 IPR004177  DDHD domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006654 phosphatidic acid biosynthetic process TAS
 biological_processGO:0016042 lipid catabolic process IEA
 biological_processGO:0090141 positive regulation of mitochondrial fission IDA
 cellular_componentGO:0005737 cytoplasm IBA
 cellular_componentGO:0005829 cytosol TAS
 molecular_functionGO:0004620 phospholipase activity IBA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Synthesis of PA


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001258 Spastic paraplegia 
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 HP:0001347 Hyperreflexia "The presence of overactive or overresponsive reflexes." [HPO:curators]
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 HP:0001761 Pes cavus 
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 HP:0002061 Lower limb spasticity 
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 HP:0002063 Rigidity 
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 HP:0002064 Spastic gait 
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 HP:0002172 Postural instability 
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 HP:0002317 Unsteady gait 
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 HP:0002355 Difficulty walking 
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0002936 Distal sensory impairment 
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 HP:0003477 Axonal neuropathy 
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 HP:0003487 Babinski sign "Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract." [HPO:curators]
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 HP:0003621 Juvenile onset 
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 HP:0003677 Slow progression 
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 HP:0006944 Vibration sense abolished "A complete loss of the ability to perceive vibration." [HPO:curators]
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 HP:0007021 Pain insensitivity, diffuse 
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 HP:0007340 Lower limb muscle weakness "Weakness of the muscles of the legs." [HPO:curators]
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 HP:0010830 Loss of touch sensation 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000085788 DDHD2 / O94830 / DDHD domain containing 2  / complex






 

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contact: otassy@igbmc.fr