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

Gene ID: 4284, updated on 20-Jan-2019

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
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

Genomic context

See MIP in Genome Data Viewer
Location:
12q13.3
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (56449502..56456553, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56843286..56848435, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene TBCC domain containing 1 pseudogene Neighboring gene timeless circadian regulator Neighboring gene SPRY domain containing 4 Neighboring gene glutaminase 2 Neighboring gene small nucleolar RNA, H/ACA box 105C Neighboring gene heat shock protein family D (Hsp60) member 1 pseudogene 4

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

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

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calmodulin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
structural constituent of eye lens IEA
Inferred from Electronic Annotation
more info
 
water channel activity EXP
Inferred from Experiment
more info
PubMed 
water channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
water channel activity IDA
Inferred from Direct Assay
more info
PubMed 
water channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
gap junction-mediated intercellular transport IDA
Inferred from Direct Assay
more info
PubMed 
lens development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
protein homotetramerization IDA
Inferred from Direct Assay
more info
PubMed 
response to stimulus IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
water transport ISS
Inferred from Sequence or Structural Similarity
more info
 
water transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
apical plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
gap junction IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
lens fiber major intrinsic protein
Names
aquaporin 0
NP_036196.1
XP_011536656.1
XP_016874795.1

NCBI Reference Sequences (RefSeq)

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

  1. NG_021397.2 RefSeqGene

    Range
    19510..24665
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_012064.4NP_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
    Related
    ENSP00000257979.4, ENST00000257979.5
    Conserved Domains (1) summary
    pfam00230
    Location:3219
    MIP; Major intrinsic protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    56449502..56456553 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    cl00200
    Location:26124
    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 ...
  2. XM_017019306.1XP_016874795.1  lens fiber major intrinsic protein isoform X2

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