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Aliases for MIP Gene

Aliases for MIP Gene

  • Major Intrinsic Protein Of Lens Fiber 2 3
  • AQP0 3 4 6
  • Aquaporin 0 2 3
  • CTRCT15 3 6
  • MIP26 3 4
  • MP26 3 4
  • Lens Fiber Major Intrinsic Protein 3
  • Aquaporin-0 4
  • LIM1 3

External Ids for MIP Gene

Summaries for MIP Gene

Entrez Gene Summary for MIP Gene

  • Major intrinsic protein is a member of the water-transporting aquaporins as well as the original member of the MIP family of channel proteins. The function of the fiber cell membrane protein encoded by this gene is undetermined, yet this protein is speculated to play a role in intracellular communication. The MIP protein is expressed in the ocular lens and is required for correct lens function. This gene has been mapped among aquaporins AQP2, AQP5, and AQP6, in a potential gene cluster at 12q13. [provided by RefSeq, Jul 2008]

GeneCards Summary for MIP Gene

MIP (Major Intrinsic Protein Of Lens Fiber) is a Protein Coding gene. Diseases associated with MIP include cataract 15, multiple types and endolymphatic hydrops. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Regulation of Water Balance by Renal Aquaporins. GO annotations related to this gene include calmodulin binding and structural constituent of eye lens. An important paralog of this gene is AQP1.

UniProtKB/Swiss-Prot for MIP Gene

  • Water channel. Channel activity is down-regulated by CALM when cytoplasmic Ca(2+) levels are increased. May be responsible for regulating the osmolarity of the lens. Interactions between homotetramers from adjoining membranes may stabilize cell junctions in the eye lens core (By similarity).

Gene Wiki entry for MIP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MIP Gene

Genomics for MIP Gene

Genomic Location for MIP Gene

Start:
56,449,502 bp from pter
End:
56,469,166 bp from pter
Size:
19,665 bases
Orientation:
Minus strand

Genomic View for MIP Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MIP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MIP Gene

Proteins for MIP Gene

  • Protein details for MIP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P30301-MIP_HUMAN
    Recommended name:
    Lens fiber major intrinsic protein
    Protein Accession:
    P30301
    Secondary Accessions:
    • Q17R41

    Protein attributes for MIP Gene

    Size:
    263 amino acids
    Molecular mass:
    28122 Da
    Quaternary structure:
    • Homotetramer. Homooctamer formed by head-to-head interaction between homotetramers from adjoining membranes. Interacts with CALM; one CALM molecule interacts with the cytoplasmic domains of two aquaporins, leading to channel closure (By similarity).

neXtProt entry for MIP Gene

Proteomics data for MIP Gene at MOPED

Post-translational modifications for MIP Gene

  • Subject to partial proteolytic cleavage in the eye lens core. Partial proteolysis promotes interactions between tetramers from adjoining membranes (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MIP Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for MIP Gene

Domains for MIP Gene

Gene Families for MIP Gene

HGNC:
  • AQP :Ion channels / Aquaporins
IUPHAR :

Protein Domains for MIP Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

MIP_HUMAN
Domain:
  • Aquaporins contain two tandem repeats each containing two membrane-spanning helices and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA). Each tandem repeat contains a loop and a short helix that enter and leave the lipid bilayer on the same side (By similarity).:
    • P30301
Family:
  • Belongs to the MIP/aquaporin (TC 1.A.8) family.:
    • P30301
genes like me logo Genes that share domains with MIP: view

Function for MIP Gene

Molecular function for MIP Gene

GENATLAS Biochemistry: major intrinsic protein of lens fiber,1 (MP26),with water channel properties
UniProtKB/Swiss-Prot Function: Water channel. Channel activity is down-regulated by CALM when cytoplasmic Ca(2+) levels are increased. May be responsible for regulating the osmolarity of the lens. Interactions between homotetramers from adjoining membranes may stabilize cell junctions in the eye lens core (By similarity).

Gene Ontology (GO) - Molecular Function for MIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005212 structural constituent of eye lens IEA --
GO:0005215 transporter activity TAS 1840563
GO:0005515 protein binding --
GO:0005516 calmodulin binding ISS --
GO:0015250 water channel activity ISS --
genes like me logo Genes that share ontologies with MIP: view

Phenotypes for MIP Gene

MGI mutant phenotypes for MIP:
inferred from 6 alleles
GenomeRNAi human phenotypes for MIP:
genes like me logo Genes that share phenotypes with MIP: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for MIP Gene

Localization for MIP Gene

Subcellular locations from UniProtKB/Swiss-Prot for MIP Gene

Cell membrane; Multi-pass membrane protein. Cell junction, gap junction.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MIP Gene COMPARTMENTS Subcellular localization image for MIP gene
Compartment Confidence
plasma membrane 5
nucleus 2
cytoskeleton 1
endoplasmic reticulum 1
extracellular 1

Gene Ontology (GO) - Cellular Components for MIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane ISS --
GO:0005921 gap junction IEA --
GO:0016020 membrane --
GO:0016324 apical plasma membrane IBA --
genes like me logo Genes that share ontologies with MIP: view

Pathways for MIP Gene

genes like me logo Genes that share pathways with MIP: view

Pathways by source for MIP Gene

Gene Ontology (GO) - Biological Process for MIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002088 lens development in camera-type eye IEA --
GO:0006810 transport --
GO:0006833 water transport TAS --
GO:0007601 visual perception IEA --
GO:0009992 cellular water homeostasis IBA --
genes like me logo Genes that share ontologies with MIP: view

Compounds for MIP Gene

(1) IUPHAR Ligand for MIP Gene

Ligand Type Action Affinity Pubmed IDs
Hg2+ Inhibitor None

(47) Novoseek inferred chemical compound relationships for MIP Gene

Compound -log(P) Hits PubMed IDs
glycerol 76.8 56
hgcl2 63.2 7
pcmbs 56.8 4
mp 26 55.6 2
cp-49 52.8 3
genes like me logo Genes that share compounds with MIP: view

Transcripts for MIP Gene

mRNA/cDNA for MIP Gene

Unigene Clusters for MIP Gene

Major intrinsic protein of lens fiber:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MIP Gene

No ASD Table

Relevant External Links for MIP Gene

GeneLoc Exon Structure for
MIP
ECgene alternative splicing isoforms for
MIP

Expression for MIP Gene

mRNA expression in normal human tissues for MIP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MIP Gene

This gene is overexpressed in Testis (10.6) and Liver (7.6).

SOURCE GeneReport for Unigene cluster for MIP Gene Hs.574026

mRNA Expression by UniProt/SwissProt for MIP Gene

P30301-MIP_HUMAN
Tissue specificity: Major component of lens fiber gap junctions
genes like me logo Genes that share expressions with MIP: view

Orthologs for MIP Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MIP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MIP 36
  • 99.87 (n)
  • 100 (a)
MIP 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MIP 36
  • 91.25 (n)
  • 92.02 (a)
MIP 37
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MIP 36
  • 90.87 (n)
  • 94.3 (a)
MIP 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mip 36
  • 89.1 (n)
  • 93.16 (a)
Mip 16
Mip 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MIP 37
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MIP 37
  • 76 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mip 36
  • 89.86 (n)
  • 93.54 (a)
lizard
(Anolis carolinensis)
Reptilia MIP 37
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mip 36
  • 70.85 (n)
  • 76.81 (a)
zebrafish
(Danio rerio)
Actinopterygii mipa 36
  • 67.68 (n)
  • 70.34 (a)
mipa 37
  • 70 (a)
OneToMany
mipb 37
  • 66 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG7777 38
  • 38 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7386 36
thale cress
(Arabidopsis thaliana)
eudicotyledons TIP2 36
  • 51.2 (n)
  • 44.5 (a)
Species with no ortholog for MIP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MIP Gene

ENSEMBL:
Gene Tree for MIP (if available)
TreeFam:
Gene Tree for MIP (if available)

Paralogs for MIP Gene

Paralogs for MIP Gene

Selected SIMAP similar genes for MIP Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MIP: view

Variants for MIP Gene

Sequence variations from dbSNP and Humsavar for MIP Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs774041 -- 56,452,240(-) actca(A/G)attca intron-variant
rs799187 -- 56,452,059(-) tatat(A/T)ttttt intron-variant
rs1082214 -- 56,452,706(-) aatac(A/G)ttatc intron-variant
rs2088155 -- 56,451,519(+) GCAAC(A/G)CTGCT intron-variant
rs2269347 -- 56,455,001(-) GACCT(C/T)CCAAA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for MIP Gene

Variant ID Type Subtype PubMed ID
nsv482992 CNV Complex 15286789

Relevant External Links for MIP Gene

HapMap Linkage Disequilibrium report
MIP
Human Gene Mutation Database (HGMD)
MIP

Disorders for MIP Gene

(1) OMIM Diseases for MIP Gene (154050)

UniProtKB/Swiss-Prot

MIP_HUMAN
  • Cataract 15, multiple types (CTRCT15) [MIM:615274]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT15 includes polymorphic, progressive punctate lamellar, cortical, anterior and posterior polar, nonprogressive lamellar with sutural opacities, embryonic nuclear, and pulverulent cortical, among others. {ECO:0000269 PubMed:10802646, ECO:0000269 PubMed:11001937, ECO:0000269 PubMed:16564824, ECO:0000269 PubMed:17893667, ECO:0000269 PubMed:17960133, ECO:0000269 PubMed:20361015, ECO:0000269 PubMed:21245956}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for MIP Gene

(44) Novoseek inferred disease relationships for MIP Gene

Disease -log(P) Hits PubMed IDs
water balance disorders 92.7 11
diabetes insipidus nephrogenic 82.8 2
brain edema 67.5 16
congenital cataract 48.7 2
cerebral edema 43.5 4

Relevant External Links for MIP

Genetic Association Database (GAD)
MIP
Human Genome Epidemiology (HuGE) Navigator
MIP
genes like me logo Genes that share disorders with MIP: view

Publications for MIP Gene

  1. Genomic cloning, complete nucleotide sequence, and structure of the human gene encoding the major intrinsic protein (MIP) of the lens. (PMID: 1840563) Pisano M.M. … Chepelinsky A.B. (Genomics 1991) 2 3 4 23
  2. Functional impairment of lens aquaporin in two families with dominantly inherited cataracts. (PMID: 11001937) Francis P. … Agre P. (Hum. Mol. Genet. 2000) 3 4 23
  3. Novel single-base deletional mutation in major intrinsic protein (MIP) in autosomal dominant cataract. (PMID: 16564824) Geyer D.D. … Bateman J.B. (Am. J. Ophthalmol. 2006) 3 4 23
  4. Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q. (PMID: 10802646) Berry V. … Bhattacharya S. (Nat. Genet. 2000) 3 4 23
  5. A novel mutation in major intrinsic protein of the lens gene (MIP) underlies autosomal dominant cataract in a Chinese family. (PMID: 17893667) Gu F. … Ma X. (Mol. Vis. 2007) 3 4 23

Products for MIP Gene

Sources for MIP Gene

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