MIP
Lens fiber major intrinsic protein
Also known as: AQP0, LIM1, MIP_HUMAN, MP26
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P30301
- Gene
- MIP
- Ensembl
- ENSG00000135517
- Chromosome
- 12
- Canonical length
- 263 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted membrane proteins
- Quaternary structure
- Homotetramer
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
263 residues, UniProt reviewed canonical sequence.
>P30301|MIP
1 MWELRSASFW RAIFAEFFAT LFYVFFGLGS SLRWAPGPLH VLQVAMAFGL ALATLVQSVG
61 HISGAHVNPA VTFAFLVGSQ MSLLRAFCYM AAQLLGAVAG AAVLYSVTPP AVRGNLALNT
121 LHPAVSVGQA TTVEIFLTLQ FVLCIFATYD ERRNGQLGSV ALAVGFSLAL GHLFGMYYTG
181 AGMNPARSFA PAILTGNFTN HWVYWVGPII GGGLGSLLYD FLLFPRLKSI SERLSVLKGA
241 KPDVSNGQPE VTGEPVELNT QALLocalizationUniProt · AlphaFold · HPA
Whether an antibody against MIP can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 6
- Mean surface accessibility (rSASA)
- 0.28
- Highest tissue expression
- 0.3 nTPM
Expression across tissuesHPA
Tissue
- liver: 0.3 nTPM
- testis: 0.2 nTPM
- adipose tissue: 0 nTPM
- adrenal gland: 0 nTPM
- amygdala: 0 nTPM
- appendix: 0 nTPM
Single-cell type
- cardiomyocytes: 1.4 nCPM
- adipocytes: 0.8 nCPM
- hematopoietic stem cells: 0.5 nCPM
- distal convoluted tubule cells: 0.3 nCPM
- mesothelial cells: 0.3 nCPM
- renal connecting tubule cells: 0.3 nCPM
Immune cell
- basophil: 0.1 nTPM
- classical monocyte: 0.1 nTPM
- plasmacytoid DC: 0.1 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- cerebral cortex: 0.2 nTPM
- hypothalamus: 0.2 nTPM
- amygdala: 0.1 nTPM
- cerebellum: 0.1 nTPM
- hippocampal formation: 0.1 nTPM
- medulla oblongata: 0.1 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about MIP.
Disease | AllUniProt
Conditions MIP is implicated in, by any mechanism.
- Cataract 15, multiple types (CTRCT15) MIM:615274
Disease | GeneticClinVar
23 pathogenic / likely-pathogenic of 119 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Cataract 15 multiple types
- MIP-related disorder
- Developmental cataract
- Inborn genetic diseases
- Persistent hyperplastic primary vitreous
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.91
- gnomAD pLI
- 0.03
- gnomAD missense Z
- 1.2
- DepMap mean gene effect
- -0.14
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- gap junction-mediated intercellular transport
- homotypic cell-cell adhesion
- lens development in camera-type eye
- maintenance of lens transparency
- visual perception
- water transport
Molecular functions
- calmodulin binding
- cell adhesion mediator activity
- structural constituent of eye lens
- water channel activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of MIP in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads MIP as an antibody target. Whether an autoantibody or antibody against MIP could matter depends on whether native MIP is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
MIP is annotated at the cell surface, where native MIP is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label MIP as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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