ENSG00000139323


Homo sapiens

Features
Gene ID: ENSG00000139323
  
Biological name :POC1B
  
Synonyms : POC1B / POC1 centriolar protein B / Q8TC44
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: -1
Band: q21.33
Gene start: 89419718
Gene end: 89526024
  
Corresponding Affymetrix probe sets: 226283_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000449648
Ensembl peptide - ENSP00000450118
Ensembl peptide - ENSP00000449945
Ensembl peptide - ENSP00000323302
Ensembl peptide - ENSP00000376877
Ensembl peptide - ENSP00000447437
Ensembl peptide - ENSP00000447916
Ensembl peptide - ENSP00000449256
NCBI entrez gene - 282809     See in Manteia.
OMIM - 614784
RefSeq - NM_172240
RefSeq - NM_001199777
RefSeq Peptide - NP_001186706
RefSeq Peptide - NP_758440
swissprot - A0MNP0
swissprot - Q8TC44
swissprot - F8VPF1
swissprot - F8VV91
swissprot - F8VX21
swissprot - Q8IU52
Ensembl - ENSG00000139323
  
Related genetic diseases (OMIM): 615973 - Cone-rod dystrophy 20, 615973
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
 poc1bENSDARG00000021110Danio rerio
 POC1BENSGALG00000035493Gallus gallus
 Poc1bENSMUSG00000019952Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
POC1A / Q8NBT0 / POC1 centriolar protein AENSG0000016408750
NLE1 / Q9NVX2 / notchless homolog 1ENSG0000007353621
WDR5 / P61964 / WD repeat domain 5ENSG0000019636320
KATNB1 / Q9BVA0 / katanin regulatory subunit B1ENSG0000014085420
WDR5B / Q86VZ2 / WD repeat domain 5BENSG0000019698119
DAW1 / Q8N136 / dynein assembly factor with WD repeats 1ENSG0000012397718
WDR38 / Q5JTN6 / WD repeat domain 38ENSG0000013691818
P43034 / PAFAH1B1 / platelet activating factor acetylhydrolase 1b regulatory subunit 1ENSG0000000716817
Q96DI7 / SNRNP40 / small nuclear ribonucleoprotein U5 subunit 40ENSG0000006068816
WDR61 / Q9GZS3 / WD repeat domain 61ENSG0000014039514


Protein motifs (from Interpro)
Interpro ID Name
 IPR001680  WD40 repeat
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR017986  WD40-repeat-containing domain
 IPR019775  WD40 repeat, conserved site
 IPR020472  G-protein beta WD-40 repeat
 IPR036322  WD40-repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001895 retina homeostasis IMP
 biological_processGO:0008283 cell proliferation IMP
 biological_processGO:0030030 cell projection organization IEA
 biological_processGO:0060271 cilium assembly IMP
 cellular_componentGO:0000922 spindle pole IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005813 centrosome IDA
 cellular_componentGO:0005814 centriole IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0036064 ciliary basal body IDA
 cellular_componentGO:0042995 cell projection IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


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:0000505 Impaired vision 
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 HP:0000548 Cone-rod dystrophy 
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 HP:0000551 Abnormal color vision 
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 HP:0000613 Photophobia "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators]
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 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
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 HP:0000662 Night blindness 
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 HP:0001133 Constricted visual fields 
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 HP:0007663 Decreased central vision 
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 HP:0007703 Abnormal retinal pigmentation 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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