ENSG00000108255


Homo sapiens

Features
Gene ID: ENSG00000108255
  
Biological name :CRYBA1
  
Synonyms : CRYBA1 / crystallin beta A1 / P05813
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: 1
Band: q11.2
Gene start: 29246863
Gene end: 29254494
  
Corresponding Affymetrix probe sets: 206982_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000225387
Ensembl peptide - ENSP00000464368
NCBI entrez gene - 1411     See in Manteia.
OMIM - 123610
RefSeq - XM_017024198
RefSeq - NM_005208
RefSeq Peptide - NP_005199
swissprot - P05813
swissprot - J3QRT1
Ensembl - ENSG00000108255
  
Related genetic diseases (OMIM): 600881 - Cataract 10, multiple types, 600881
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
 cryba1aENSDARG00000041141Danio rerio
 cryba1bENSDARG00000053875Danio rerio
 CRYBA1ENSGALG00000004035Gallus gallus
 Cryba1ENSMUSG00000000724Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CRYBA4 / P53673 / crystallin beta A4ENSG0000019643160
CRYBA2 / P53672 / crystallin beta A2ENSG0000016349948
CRYBB1 / P53674 / crystallin beta B1ENSG0000010012245
CRYBB2 / P43320 / crystallin beta B2ENSG0000024475240
CRYBB3 / P26998 / crystallin beta B3ENSG0000010005339
CRYGS / P22914 / crystallin gamma SENSG0000021313930
CRYGC / P07315 / crystallin gamma CENSG0000016325428
CRYGB / P07316 / crystallin gamma BENSG0000018218728
CRYGD / P07320 / crystallin gamma DENSG0000011823127
CRYGA / P11844 / crystallin gamma AENSG0000016858227
CRYGN / Q8WXF5 / crystallin gamma NENSG0000012737726


Protein motifs (from Interpro)
Interpro ID Name
 IPR001064  Beta/gamma crystallin
 IPR011024  Gamma-crystallin-like


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001818 negative regulation of cytokine production IEA
 biological_processGO:0002088 lens development in camera-type eye IEA
 biological_processGO:0007601 visual perception NAS
 biological_processGO:0014067 negative regulation of phosphatidylinositol 3-kinase signaling IEA
 biological_processGO:0032007 negative regulation of TOR signaling IEA
 biological_processGO:0051898 negative regulation of protein kinase B signaling IEA
 biological_processGO:0070373 negative regulation of ERK1 and ERK2 cascade IEA
 biological_processGO:2000210 positive regulation of anoikis IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 molecular_functionGO:0003674 molecular_function ND
 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:0000519 Congenital cataract "A congenital `cataract` (HP:0000518)." [HPO:probinson]
Show

 HP:0008031 Posterior Y-sutural cataract "A type of `sutural cataract` (HP:0010695) in which the opacity follows the posterior Y suture." [HPO:probinson]
Show

  


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






 

1 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