ENSG00000124429


Homo sapiens

Features
Gene ID: ENSG00000124429
  
Biological name :POF1B
  
Synonyms : POF1B / POF1B, actin binding protein / Q8WVV4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: -1
Band: q21.1
Gene start: 85277396
Gene end: 85379743
  
Corresponding Affymetrix probe sets: 1555382_at (Human Genome U133 Plus 2.0 Array)   1555383_a_at (Human Genome U133 Plus 2.0 Array)   219756_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000262753
Ensembl peptide - ENSP00000362238
NCBI entrez gene - 79983     See in Manteia.
OMIM - 300603
RefSeq - XM_005262203
RefSeq - NM_001307940
RefSeq - NM_024921
RefSeq Peptide - NP_079197
RefSeq Peptide - NP_001294869
swissprot - Q8WVV4
Ensembl - ENSG00000124429
  
Related genetic diseases (OMIM): 300604 - ?Premature ovarian failure 2B, 300604
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
 pof1bENSDARG00000054060Danio rerio
 POF1BENSGALG00000006919Gallus gallus
 Pof1bENSMUSG00000034607Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR026186  Protein POF1B


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0003382 epithelial cell morphogenesis IMP
 biological_processGO:0007015 actin filament organization IMP
 biological_processGO:0030036 actin cytoskeleton organization IMP
 biological_processGO:0070830 bicellular tight junction assembly IMP
 cellular_componentGO:0005884 actin filament IDA
 cellular_componentGO:0005912 adherens junction IDA
 cellular_componentGO:0005923 bicellular tight junction IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030057 desmosome IEA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0051015 actin filament binding IMP


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000098 Increased body height 
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 HP:0000164 Abnormality of the teeth "Any abnormality of the primary (deciduous) or permanent teeth." [HPO:curators]
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 HP:0000786 Primary amenorrhea 
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 HP:0000823 Delayed puberty 
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 HP:0000939 Osteoporosis "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators]
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 HP:0001419 X-linked recessive inheritance "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators]
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 HP:0008209 Premature ovarian failure 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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