MIP major intrinsic protein of lens fiber [Homo sapiens (human)] - Gene

Summary

Official Symbol: MIPprovided by HGNC
Official Full Name: major intrinsic protein of lens fiberprovided by HGNC
Primary source: HGNC:HGNC:7103
See related: Ensembl:ENSG00000135517 MIM:154050; AllianceGenome:HGNC:7103
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AQP0; LIM1; MP26; MIP26; CTRCT15
Summary: 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]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (56449502..56456553, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (56417213..56424265, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (56843286..56848441, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A novel single-base deletional mutation of MIP impairs protein distribution and cell-to-cell adhesion in autosomal dominant cataracts in a Chinese family.
Title: A novel single-base deletional mutation of MIP impairs protein distribution and cell-to-cell adhesion in autosomal dominant cataracts in a Chinese family.
Protective roles of peroxiporins AQP0 and AQP11 in human astrocyte and neuronal cell lines in response to oxidative and inflammatory stressors.
Title: Protective roles of peroxiporins AQP0 and AQP11 in human astrocyte and neuronal cell lines in response to oxidative and inflammatory stressors.
The role of phosphorylation in calmodulin-mediated gating of human AQP0.
Title: The role of phosphorylation in calmodulin-mediated gating of human AQP0.
First implication of MIP in bilateral microphthalmia with persistent fetal vasculature.
Title: First implication of MIP in bilateral microphthalmia with persistent fetal vasculature.
Anterior Umbilication of Lens in a Family with Congenital Cataracts Associated with a Missense Mutation of MIP Gene.
Title: Anterior Umbilication of Lens in a Family with Congenital Cataracts Associated with a Missense Mutation of MIP Gene.
AQP0 is a novel surface marker for deciphering abnormal erythropoiesis.
Title: AQP0 is a novel surface marker for deciphering abnormal erythropoiesis.
The novel missense mutation c.572C>Gp.P191Rat exon 3 of the MIP gene was identified in a Chinese family of congenital cataract. The mutation affects the traffic of MIP protein in the cells and reduces the expression level of MIP protein in the cell membrane.
Title: A novel MIP mutation in a Chinese family with congenital cataract.
Our study generated genetic and primary functional evidence for a novel c.682_683delAA mutation in MIP that expands the variant spectrum of MIP and help us better understand the molecular basis of cataract.
Title: Identification of a novel MIP frameshift mutation associated with congenital cataract in a Chinese family by whole-exome sequencing and functional analysis.
Study presented genetic and functional evidence for a novel major intrinsic protein mutation of G212R, which leads to congenital progressive cortical punctate with or without Y suture.
Title: Identification of a novel missense mutation of MIP in a Chinese family with congenital cataracts by target region capture sequencing.
In summary, whole-exome sequencing identifies a novel heterozygous missense variant (c.402G > T) in rarely reported cataract gene of MIP in an unconsanguineous marriage of three-generation Chinese family with congenital cataracts.
Title: A novel mutation of MIP in a Chinese family with congenital nuclear cataract identified by whole-exome sequencing.

Submit: New GeneRIF Correction See all GeneRIFs (43)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cataract 15 multiple types MedGen: C3809001 OMIM: 615274 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:482180

G64800 (e-PCR)
- UniSTS:164787

NoName (e-PCR)
- UniSTS:491191

D12S1125 (e-PCR)
- UniSTS:150205

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calmodulin binding	ISS Inferred from Sequence or Structural Similarity more info
enables cell adhesion mediator activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of eye lens	IEA Inferred from Electronic Annotation more info
enables water channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables water channel activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_positive_effect gap junction-mediated intercellular transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in homotypic cell-cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in lens development in camera-type eye	IEA Inferred from Electronic Annotation more info
involved_in maintenance of lens transparency	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in visual perception	IEA Inferred from Electronic Annotation more info
involved_in water transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in water transport	IDA Inferred from Direct Assay more info	PubMed

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
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	TAS Traceable Author Statement more info

General protein information

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Preferred Names: lens fiber major intrinsic protein

Names: aquaporin 0

NP_036196.1

EC 1.11.1.6

XP_011536656.1

EC 1.11.1.6

XP_016874795.1

EC 1.11.1.6

XP_054228043.1

EC 1.11.1.6

XP_054228044.1

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.

Genomic

NG_021397.2 RefSeqGene

Range

19510..24665

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GenBank, FASTA, Sequence Viewer (Graphics), LRG_1291

mRNA and Protein(s)

NM_012064.4 → NP_036196.1 lens fiber major intrinsic protein

See identical proteins and their annotated locations for NP_036196.1

Status: REVIEWED

Source sequence(s)

AC024884, BC117474

Consensus CDS

CCDS8919.1

UniProtKB/Swiss-Prot

P30301, Q17R41

UniProtKB/TrEMBL

A0A140CTY0

Related

ENSP00000498622.1, ENST00000652304.1

Conserved Domains (1) summary

pfam00230
Location:3 → 219

MIP; Major intrinsic protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

56449502..56456553 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011538354.2 → XP_011536656.1 lens fiber major intrinsic protein isoform X1

Conserved Domains (1) summary

cl00200
Location:26 → 124

MIP; Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal ...
XM_017019306.2 → XP_016874795.1 lens fiber major intrinsic protein isoform X2