ENSG00000125864


Homo sapiens

Features
Gene ID: ENSG00000125864
  
Biological name :BFSP1
  
Synonyms : beaded filament structural protein 1 / BFSP1 / Q12934
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 20
Strand: -1
Band: p12.1
Gene start: 17493905
Gene end: 17569220
  
Corresponding Affymetrix probe sets: 206746_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000367099
Ensembl peptide - ENSP00000367104
Ensembl peptide - ENSP00000442522
NCBI entrez gene - 631     See in Manteia.
OMIM - 603307
RefSeq - NM_001278608
RefSeq - XM_017028005
RefSeq - NM_001161705
RefSeq - NM_001195
RefSeq - NM_001278606
RefSeq - NM_001278607
RefSeq Peptide - NP_001186
RefSeq Peptide - NP_001265535
RefSeq Peptide - NP_001265536
RefSeq Peptide - NP_001265537
RefSeq Peptide - NP_001155177
swissprot - Q12934
Ensembl - ENSG00000125864
  
Related genetic diseases (OMIM): 611391 - Cataract 33, multiple types, 611391
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
 BFSP1ENSDARG00000074919Danio rerio
 BFSP1ENSGALG00000008735Gallus gallus
 Bfsp1ENSMUSG00000027420Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR001664  Intermediate filament protein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007010 cytoskeleton organization IEA
 biological_processGO:0008150 biological_process ND
 biological_processGO:0048469 cell maturation IEA
 biological_processGO:0070307 lens fiber cell development IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005882 intermediate filament TAS
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005938 cell cortex IEA
 cellular_componentGO:0016020 membrane IEA
 molecular_functionGO:0005198 structural molecule activity IEA
 molecular_functionGO:0005200 structural constituent of cytoskeleton TAS
 molecular_functionGO:0005212 structural constituent of eye lens IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
Show

 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]
Show

 HP:0100018 Nuclear cataract "A nuclear cataract is an opacity or clouding that develops in the `lens nucleus` (FMA:58971). That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown." [HPO:sdoelken]
Show

 HP:0100019 Cortical cataract "A cataract which affects the layer of the lens surrounding the nucleus, i.e., the `lens cortex` (FMA:58970). It is identified by its unique wedge or spoke appearance." [HPO:sdoelken]
Show

  


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






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr