ENSG00000128567


Homo sapiens

Features
Gene ID: ENSG00000128567
  
Biological name :PODXL
  
Synonyms : O00592 / podocalyxin like / PODXL
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: -1
Band: q32.3
Gene start: 131500262
Gene end: 131558217
  
Corresponding Affymetrix probe sets: 201578_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000367817
Ensembl peptide - ENSP00000319782
Ensembl peptide - ENSP00000390152
NCBI entrez gene - 5420     See in Manteia.
OMIM - 602632
RefSeq - NM_005397
RefSeq - NM_001018111
RefSeq Peptide - NP_001018121
RefSeq Peptide - NP_005388
swissprot - O00592
swissprot - G3V0E6
Ensembl - ENSG00000128567
  
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
 podxlENSDARG00000031228Danio rerio
 PODXLENSGALG00000006409Gallus gallus
 PodxlENSMUSG00000025608Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR013836  CD34/Podocalyxin
 IPR017403  Podocalyxin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0007162 negative regulation of cell adhesion ISS
 biological_processGO:0016477 cell migration ISS
 biological_processGO:0022407 regulation of cell-cell adhesion IEA
 biological_processGO:0022408 negative regulation of cell-cell adhesion ISS
 biological_processGO:0030335 positive regulation of cell migration IDA
 biological_processGO:0032534 regulation of microvillus assembly ISS
 biological_processGO:0033634 positive regulation of cell-cell adhesion mediated by integrin IDA
 biological_processGO:0072015 glomerular visceral epithelial cell development ISS
 biological_processGO:0072175 epithelial tube formation ISS
 cellular_componentGO:0001726 ruffle IEA
 cellular_componentGO:0005615 extracellular space HDA
 cellular_componentGO:0005730 nucleolus IDA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005815 microtubule organizing center IDA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0005902 microvillus IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016324 apical plasma membrane ISS
 cellular_componentGO:0030027 lamellipodium IEA
 cellular_componentGO:0030175 filopodium IEA
 cellular_componentGO:0031528 microvillus membrane ISS
 cellular_componentGO:0036057 slit diaphragm ISS
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 cellular_componentGO:0045121 membrane raft IEA
 cellular_componentGO:0070062 extracellular exosome IDA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000338 Hypomimic face 
Show

 HP:0001249 Mental retardation 
Show

 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]
Show

 HP:0001265 Hyporeflexia 
Show

 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]
Show

 HP:0001336 Myoclonus "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:curators]
Show

 HP:0001621 Soft voice 
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 HP:0001761 Pes cavus 
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 HP:0002063 Rigidity 
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 HP:0002066 Gait ataxia "Impairment of the ability to coordinate the movements required for normal walking." [HPO:curators]
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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]
Show

 HP:0002172 Postural instability 
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 HP:0002304 Akinesia 
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 HP:0002322 Resting tremor "A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse." [HPO:curators]
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 HP:0002425 Anarthria "A defect in the motor ability that enables speech." [HPO:curators]
Show

 HP:0002540 Inability to walk 
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0007164 Slowed slurred speech 
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 HP:0007256 Mild pyramidal signs 
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 HP:0007311 Short stepped shuffling gait 
Show

 HP:0008969 Leg muscle stiffness 
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 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
Show

 HP:0012444 Brain atrophy "Partial or complete wasting (loss) of brain tissue that was once present." [HPO:probinson]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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