ENSG00000135517


Homo sapiens

Features
Gene ID: ENSG00000135517
  
Biological name :MIP
  
Synonyms : major intrinsic protein of lens fiber / MIP / P30301
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: -1
Band: q13.3
Gene start: 56449502
Gene end: 56469166
  
Corresponding Affymetrix probe sets: 220863_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000257979
NCBI entrez gene - 4284     See in Manteia.
OMIM - 154050
RefSeq - NM_012064
RefSeq Peptide - NP_036196
swissprot - P30301
Ensembl - ENSG00000135517
  
Related genetic diseases (OMIM): 615274 - Cataract 15, multiple types, 615274
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
 mipaENSDARG00000037285Danio rerio
 mipbENSDARG00000013963Danio rerio
 MIPENSGALG00000042119Gallus gallus
 MipENSMUSG00000025389Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AQP2 / P41181 / aquaporin 2ENSG0000016758060
AQP5 / P55064 / aquaporin 5ENSG0000016179852
AQP6 / Q13520 / aquaporin 6ENSG0000008615950
AQP1 / P29972 / aquaporin 1 (Colton blood group)ENSG0000024058344
AC004691.2ENSG0000025042443
AQP4 / P55087 / aquaporin 4ENSG0000017188543
AQP8 / O94778 / aquaporin 8ENSG0000010337527


Protein motifs (from Interpro)
Interpro ID Name
 IPR000425  Major intrinsic protein
 IPR022357  Major intrinsic protein, conserved site
 IPR023271  Aquaporin-like
 IPR034294  Aquaporin transporter


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002088 lens development in camera-type eye IEA
 biological_processGO:0006833 water transport IEA
 biological_processGO:0007601 visual perception IEA
 biological_processGO:0034220 ion transmembrane transport IBA
 biological_processGO:0045785 positive regulation of cell adhesion IDA
 biological_processGO:0050896 response to stimulus IEA
 biological_processGO:0051289 protein homotetramerization IDA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:1990349 gap junction-mediated intercellular transport IDA
 cellular_componentGO:0005783 endoplasmic reticulum IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0005921 gap junction IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IBA
 cellular_componentGO:0030054 cell junction IEA
 molecular_functionGO:0005212 structural constituent of eye lens IEA
 molecular_functionGO:0005516 calmodulin binding ISS
 molecular_functionGO:0015250 water channel activity IEA
 molecular_functionGO:0015267 channel activity IEA


Pathways (from Reactome)
Pathway description
Passive transport by Aquaporins


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]
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 HP:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000135517 MIP / P30301 / major intrinsic protein of lens fiber  / complex






 

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