ENSG00000196998


Homo sapiens

Features
Gene ID: ENSG00000196998
  
Biological name :WDR45
  
Synonyms : Q9Y484 / WDR45 / WD repeat domain 45
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: -1
Band: p11.23
Gene start: 49071470
Gene end: 49101170
  
Corresponding Affymetrix probe sets: 209216_at (Human Genome U133 Plus 2.0 Array)   209217_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000417754
Ensembl peptide - ENSP00000418919
Ensembl peptide - ENSP00000419324
Ensembl peptide - ENSP00000419453
Ensembl peptide - ENSP00000419897
Ensembl peptide - ENSP00000420534
Ensembl peptide - ENSP00000420728
Ensembl peptide - ENSP00000488972
Ensembl peptide - ENSP00000488986
Ensembl peptide - ENSP00000489040
Ensembl peptide - ENSP00000489080
Ensembl peptide - ENSP00000489128
Ensembl peptide - ENSP00000489150
Ensembl peptide - ENSP00000489268
Ensembl peptide - ENSP00000489330
Ensembl peptide - ENSP00000489553
Ensembl peptide - ENSP00000489561
Ensembl peptide - ENSP00000490130
Ensembl peptide - ENSP00000490378
Ensembl peptide - ENSP00000365551
Ensembl peptide - ENSP00000379913
Ensembl peptide - ENSP00000393640
Ensembl peptide - ENSP00000397657
Ensembl peptide - ENSP00000417211
Ensembl peptide - ENSP00000418466
Ensembl peptide - ENSP00000348848
Ensembl peptide - ENSP00000356345
Ensembl peptide - ENSP00000365536
Ensembl peptide - ENSP00000365543
Ensembl peptide - ENSP00000365546
NCBI entrez gene - 11152     See in Manteia.
OMIM - 300526
RefSeq - NM_001029896
RefSeq - NM_007075
RefSeq Peptide - NP_001025067
RefSeq Peptide - NP_009006
swissprot - Q9Y484
swissprot - A0A024QYW6
swissprot - A0A024QYX1
swissprot - A0A0U1RQG6
swissprot - A0A0U1RQJ7
swissprot - A0A0U1RQM7
swissprot - A0A0U1RQR1
swissprot - A0A0U1RQS7
swissprot - A0A0U1RR06
swissprot - A0A0U1RR42
swissprot - A0A0U1RRJ2
swissprot - A0A0U1RRJ9
swissprot - A0A1B0GV56
swissprot - A0A1Y8EKY4
swissprot - A6NM71
swissprot - C9J0A8
swissprot - C9J471
swissprot - C9J5L0
swissprot - C9J7Q8
swissprot - C9JBX7
swissprot - C9JE01
swissprot - C9JUS5
swissprot - C9JVT3
swissprot - C9JYH8
swissprot - G8JLI5
swissprot - H0Y329
swissprot - H7C4N7
swissprot - H7C5B4
Ensembl - ENSG00000196998
  
Related genetic diseases (OMIM): 300894 - Neurodegeneration with brain iron accumulation 5, 300894
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
 wdr45ENSDARG00000090219Danio rerio
 Gm45208ENSMUSG00000109493Mus musculus
 Wdr45ENSMUSG00000039382Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q5MNZ6 / WDR45B / WD repeat domain 45BENSG0000014158045


Protein motifs (from Interpro)
Interpro ID Name
 IPR001180  Citron homology (CNH) domain
 IPR001680  WD40 repeat
 IPR004895  Prenylated rab acceptor PRA1
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR032910  WD repeat domain phosphoinositide-interacting protein 4
 IPR036322  WD40-repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000422 autophagy of mitochondrion IBA
 biological_processGO:0006497 protein lipidation IBA
 biological_processGO:0006914 autophagy IEA
 biological_processGO:0034497 protein localization to phagophore assembly site IBA
 biological_processGO:0044804 autophagy of nucleus IBA
 cellular_componentGO:0005829 cytosol IBA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0019898 extrinsic component of membrane IBA
 cellular_componentGO:0034045 phagophore assembly site membrane IBA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0032266 phosphatidylinositol-3-phosphate binding IBA
 molecular_functionGO:0080025 phosphatidylinositol-3,5-bisphosphate binding IBA


Pathways (from Reactome)
Pathway description
Macroautophagy


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000496 Abnormality of eye movement "An abnormality in voluntary or involuntary eye movements or their control." [HPO:probinson]
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 HP:0000648 Optic atrophy 
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 HP:0000718 Aggressive behavior "Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself." [HPO:curators]
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 HP:0000726 Dementia 
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 HP:0000743 Frontal release signs 
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 HP:0001249 Mental retardation 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001272 Cerebellar atrophy 
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 HP:0001300 Parkinsonism 
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 HP:0001332 Dystonia "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:curators]
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 HP:0001337 Tremor "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators]
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 HP:0001344 Absent speech development 
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 HP:0001423 X-linked dominant inheritance "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [HPO:curators]
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 HP:0002059 Cerebral atrophy 
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 HP:0002063 Rigidity 
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 HP:0002067 Bradykinesia "Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement)." [HPO:curators]
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 HP:0002180 Neurodegeneration 
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 HP:0002313 Spastic paraparesis 
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 HP:0002360 Sleep disturbances "An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness." [HPO:curators]
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 HP:0002448 Encephalopathy, progressive 
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 HP:0002459 Dysautonomia 
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 HP:0002465 Poor speech 
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 HP:0012678 Iron accumulation in substantia nigra "An anomalous build up of iron (Fe) in the substantia nigra." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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contact: otassy@igbmc.fr