Mip major intrinsic protein of lens fiber [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mipprovided by MGI
Official Full Name: major intrinsic protein of lens fiberprovided by MGI
Primary source: MGI:MGI:96990
See related: Ensembl:ENSMUSG00000025389 AllianceGenome:MGI:96990
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Cat; Cts; Hfi; Lop; Svl; Aqp0; MP26; MIP26; shrivelled
Summary: Enables water channel activity. A structural constituent of eye lens. Acts upstream of or within lens development in camera-type eye; visual perception; and water transport. Located in plasma membrane. Is expressed in several structures, including eye; femur; and main olfactory bulb. Used to study cataract 15 multiple types. Human ortholog(s) of this gene implicated in cataract and cataract 15 multiple types. Orthologous to human MIP (major intrinsic protein of lens fiber). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 10 D3; 10 76.49 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (128061679..128067681)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (128225810..128231812)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Deletion of beaded filament proteins or the C-terminal end of Aquaporin 0 causes analogous abnormal distortion aberrations in mouse lens.
Title: Deletion of beaded filament proteins or the C-terminal end of Aquaporin 0 causes analogous abnormal distortion aberrations in mouse lens.
Lenses expressing only C-terminally end-cleaved aquaporin-0 show loss of transparency.
Title: A predominant form of C-terminally end-cleaved AQP0 functions as an open water channel and an adhesion protein in AQP0(ΔC/ΔC) mouse lens.
A specific distribution profile of intact and end-cleaved AQP0 from the outer cortex to the inner nucleus is required in the lens for establishing refractive index gradient to enable proper focusing without aberrations and for maintaining transparency.
Title: Deletion of Seventeen Amino Acids at the C-Terminal End of Aquaporin 0 Causes Distortion Aberration and Cataract in the Lenses of AQP0ΔC/ΔC Mice.
positively charged amino acids in the AQP0 extracellular loop domains interact with the negatively charged lipids in the plasma membrane to promote cell-to-cell adhesion for compaction of fiber cells.
Title: Molecular mechanism of Aquaporin 0-induced fiber cell to fiber cell adhesion in the eye lens.
Cataractogenesis in Mip(Nat) mutants are caused by defects in MIP expression.
Title: A novel missense mutation of Mip causes semi-dominant cataracts in the Nat mouse.
These data suggest that while relatively few genes ( approximately 1.5% of the transcriptome) were differentially regulated >2-fold in the Mip-/- lens, calpain hyper-activation acts as a terminal pathogenic event during lens fiber cell death and cataract formation.
Title: Lens transcriptome profile during cataract development in Mip-null mice.
hypothesize that AQP0, with its prolific expression at the fiber cell membrane, could provide anchorage for cytoskeletal structures like BFs and together they help to confer fiber cell shape, architecture and integrity
Title: Role of Aquaporin 0 in lens biomechanics.
In summary, lens transparency, CTCA and compact packing of fiber cells were affected due to the loss of 50% AQP0 leading to larger extracellular space, more water content and SA, possibly due to alteration in RING.
Title: Aquaporin 0 plays a pivotal role in refractive index gradient development in mammalian eye lens to prevent spherical aberration.
Post-translational truncation of N- or C-terminal end amino acids does not alter the basal water permeability of AQP0 or its adhesive functions.
Title: Intact and N- or C-terminal end truncated AQP0 function as open water channels and cell-to-cell adhesion proteins: end truncation could be a prelude for adjusting the refractive index of the lens to prevent spherical aberration.
Data show that Ca(V) 1.2 and 1.3 channels are expressed in lens, regulating phosphorylation of aquaporin-0 and myosin light chain and expression of connexins 50 and 46.
Title: L-type calcium channels play a critical role in maintaining lens transparency by regulating phosphorylation of aquaporin-0 and myosin light chain and expression of connexins.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (7) 1 citation
Gene trapped (1) 1 citation
Targeted (1) 1 citation
Radiation induced (1)
Endonuclease-mediated (4)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Mip (e-PCR), detects polymorphism
- UniSTS:143872

U27502 (e-PCR)
- UniSTS:180129

NoName (e-PCR)
- UniSTS:548516

NoName (e-PCR)
- UniSTS:236486

AI323353 (e-PCR)
- UniSTS:208626

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables channel activity	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of eye lens	IDA Inferred from Direct Assay more info	PubMed
enables water channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables water channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables water channel activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in canalicular bile acid transport	ISO Inferred from Sequence Orthology more info
involved_in cell communication	NAS Non-traceable Author Statement more info	PubMed
involved_in gap junction-mediated intercellular transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lens development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell adhesion	ISO Inferred from Sequence Orthology more info
involved_in protein homotetramerization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to stimulus	IEA Inferred from Electronic Annotation more info
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within visual perception	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in water transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within water transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in water transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
is_active_in apical plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in gap junction	IEA Inferred from Electronic Annotation more info
located_in intracellular canaliculus	ISO Inferred from Sequence Orthology more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: lens fiber major intrinsic protein

Names: aquaporin-0; cataract and small eye; dominant cataract; hydropic fibers; lens opacity; major intrinsic protein of eye lens fiber

NP_032626.2

EC 1.11.1.6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.