UniProtKB - P55344 (LMIP_HUMAN)
Protein
Lens fiber membrane intrinsic protein
Gene
LIM2
Organism
Homo sapiens (Human)
Status
Functioni
Present in the thicker 16-17 nm junctions of mammalian lens fiber cells, where it may contribute to cell junctional organization. Acts as a receptor for calmodulin. May play an important role in both lens development and cataractogenesis.
GO - Molecular functioni
- structural constituent of eye lens Source: UniProtKB-KW
GO - Biological processi
- cell-cell junction assembly Source: UniProtKB
- lens development in camera-type eye Source: Ensembl
Keywordsi
Molecular function | Eye lens protein |
Enzyme and pathway databases
PathwayCommonsi | P55344 |
Names & Taxonomyi
Protein namesi | Recommended name: Lens fiber membrane intrinsic proteinAlternative name(s): MP18 MP19 MP20 |
Gene namesi | Name:LIM2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:6610, LIM2 |
MIMi | 154045, gene |
neXtProti | NX_P55344 |
VEuPathDBi | HostDB:ENSG00000105370.7 |
Subcellular locationi
Other locations
Plasma Membrane
- plasma membrane Source: GO_Central
Other locations
- cell junction Source: UniProtKB
- integral component of membrane Source: UniProtKB-KW
- vesicle Source: Ensembl
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 3 | CytoplasmicSequence analysis | 3 | |
Transmembranei | 4 – 24 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 25 – 66 | ExtracellularSequence analysisAdd BLAST | 42 | |
Transmembranei | 67 – 87 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 88 – 98 | CytoplasmicSequence analysisAdd BLAST | 11 | |
Transmembranei | 99 – 119 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 120 – 140 | ExtracellularSequence analysisAdd BLAST | 21 | |
Transmembranei | 141 – 161 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 162 – 173 | CytoplasmicSequence analysisAdd BLAST | 12 |
Keywords - Cellular componenti
MembranePathology & Biotechi
Involvement in diseasei
Cataract, multiple types 19 (CTRCT19)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn 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. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069796 | 105 | F → V in CTRCT19. 1 PublicationCorresponds to variant dbSNP:rs121913555EnsemblClinVar. | 1 |
Keywords - Diseasei
Cataract, Disease variantOrganism-specific databases
DisGeNETi | 3982 |
MalaCardsi | LIM2 |
MIMi | 615277, phenotype |
OpenTargetsi | ENSG00000105370 |
Orphaneti | 98994, Total early-onset cataract |
PharmGKBi | PA30384 |
Miscellaneous databases
Pharosi | P55344, Tbio |
Genetic variation databases
BioMutai | LIM2 |
DMDMi | 17433717 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000164664 | 1 – 173 | Lens fiber membrane intrinsic proteinAdd BLAST | 173 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 43 | C-linked (Man) tryptophanBy similarity | 1 | |
Glycosylationi | 61 | C-linked (Man) tryptophanBy similarity | 1 | |
Glycosylationi | 62 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Modified residuei | 170 | PhosphoserineBy similarity | 1 | |
Modified residuei | 171 | PhosphothreonineBy similarity | 1 |
Keywords - PTMi
Disulfide bond, Glycoprotein, PhosphoproteinProteomic databases
PeptideAtlasi | P55344 |
PRIDEi | P55344 |
ProteomicsDBi | 56851 [P55344-1] 56852 [P55344-2] |
PTM databases
GlyGeni | P55344, 3 sites |
iPTMneti | P55344 |
PhosphoSitePlusi | P55344 |
Expressioni
Tissue specificityi
Eye lens specific.1 Publication
Gene expression databases
Bgeei | ENSG00000105370, Expressed in lens of camera-type eye and 26 other tissues |
Genevisiblei | P55344, HS |
Organism-specific databases
HPAi | ENSG00000105370, Tissue enriched (blood) |
Interactioni
Subunit structurei
Seems to be associated with itself or another lens membrane component via disulfide bonds.
Protein-protein interaction databases
BioGRIDi | 110170, 1 interactor |
IntActi | P55344, 1 interactor |
Miscellaneous databases
RNActi | P55344, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the PMP-22/EMP/MP20 family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
GeneTreei | ENSGT00990000203641 |
HOGENOMi | CLU_113769_0_0_1 |
InParanoidi | P55344 |
OMAi | GIMAFAQ |
OrthoDBi | 1279397at2759 |
PhylomeDBi | P55344 |
TreeFami | TF330587 |
Family and domain databases
InterProi | View protein in InterPro IPR003935, LMIP IPR004031, PMP22/EMP/MP20/Claudin IPR004032, PMP22_EMP_MP20 |
Pfami | View protein in Pfam PF00822, PMP22_Claudin, 1 hit |
PRINTSi | PR01453, EPMEMFAMILY PR01457, LENSMEMPROT |
PROSITEi | View protein in PROSITE PS01222, PMP22_2, 1 hit |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: P55344-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MYSFMGGGLF CAWVGTILLV VAMATDHWMQ YRLSGSFAHQ GLWRYCLGNK
60 70 80 90 100
CYLQTDSIAY WNATRAFMIL SALCAISGII MGIMAFAHQP TFSRISRPFS
110 120 130 140 150
AGIMFFSSTL FVVLALAIYT GVTVSFLGRR FGDWRFSWSY ILGWVAVLMT
160 170
FFAGIFYMCA YRVHECRRLS TPR
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 19 | L → V AA sequence (PubMed:2584203).Curated | 1 | |
Sequence conflicti | 109 | T → S (PubMed:8137630).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069796 | 105 | F → V in CTRCT19. 1 PublicationCorresponds to variant dbSNP:rs121913555EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_005073 | 58 | I → IGEPPGQGPGRAWGKSRADL GAQGHLYSRWRTLRLKEGKG ATQ in isoform 2. 2 Publications | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | L04193 Genomic DNA No translation available. AF305941 Genomic DNA Translation: AAG32328.1 AF340019 mRNA Translation: AAK26327.1 AF340020 mRNA Translation: AAK26328.1 CH471135 Genomic DNA Translation: EAW72010.1 BC069430 mRNA Translation: AAH69430.1 BC074916 mRNA Translation: AAH74916.1 BC074917 mRNA Translation: AAH74917.1 BC126139 mRNA Translation: AAI26140.1 |
CCDSi | CCDS12831.1 [P55344-2] CCDS59415.1 [P55344-1] |
RefSeqi | NP_001155220.1, NM_001161748.1 [P55344-1] NP_085915.2, NM_030657.3 [P55344-2] |
Genome annotation databases
Ensembli | ENST00000221973; ENSP00000221973; ENSG00000105370 [P55344-2] ENST00000596399; ENSP00000472090; ENSG00000105370 [P55344-1] |
GeneIDi | 3982 |
KEGGi | hsa:3982 |
UCSCi | uc002pwl.3, human [P55344-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | L04193 Genomic DNA No translation available. AF305941 Genomic DNA Translation: AAG32328.1 AF340019 mRNA Translation: AAK26327.1 AF340020 mRNA Translation: AAK26328.1 CH471135 Genomic DNA Translation: EAW72010.1 BC069430 mRNA Translation: AAH69430.1 BC074916 mRNA Translation: AAH74916.1 BC074917 mRNA Translation: AAH74917.1 BC126139 mRNA Translation: AAI26140.1 |
CCDSi | CCDS12831.1 [P55344-2] CCDS59415.1 [P55344-1] |
RefSeqi | NP_001155220.1, NM_001161748.1 [P55344-1] NP_085915.2, NM_030657.3 [P55344-2] |
3D structure databases
SMRi | P55344 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 110170, 1 interactor |
IntActi | P55344, 1 interactor |
PTM databases
GlyGeni | P55344, 3 sites |
iPTMneti | P55344 |
PhosphoSitePlusi | P55344 |
Genetic variation databases
BioMutai | LIM2 |
DMDMi | 17433717 |
Proteomic databases
PeptideAtlasi | P55344 |
PRIDEi | P55344 |
ProteomicsDBi | 56851 [P55344-1] 56852 [P55344-2] |
Protocols and materials databases
Antibodypediai | 46114, 135 antibodies |
DNASUi | 3982 |
Genome annotation databases
Ensembli | ENST00000221973; ENSP00000221973; ENSG00000105370 [P55344-2] ENST00000596399; ENSP00000472090; ENSG00000105370 [P55344-1] |
GeneIDi | 3982 |
KEGGi | hsa:3982 |
UCSCi | uc002pwl.3, human [P55344-1] |
Organism-specific databases
CTDi | 3982 |
DisGeNETi | 3982 |
GeneCardsi | LIM2 |
HGNCi | HGNC:6610, LIM2 |
HPAi | ENSG00000105370, Tissue enriched (blood) |
MalaCardsi | LIM2 |
MIMi | 154045, gene 615277, phenotype |
neXtProti | NX_P55344 |
OpenTargetsi | ENSG00000105370 |
Orphaneti | 98994, Total early-onset cataract |
PharmGKBi | PA30384 |
VEuPathDBi | HostDB:ENSG00000105370.7 |
GenAtlasi | Search... |
Phylogenomic databases
GeneTreei | ENSGT00990000203641 |
HOGENOMi | CLU_113769_0_0_1 |
InParanoidi | P55344 |
OMAi | GIMAFAQ |
OrthoDBi | 1279397at2759 |
PhylomeDBi | P55344 |
TreeFami | TF330587 |
Enzyme and pathway databases
PathwayCommonsi | P55344 |
Miscellaneous databases
BioGRID-ORCSi | 3982, 2 hits in 982 CRISPR screens |
GeneWikii | LIM2 |
GenomeRNAii | 3982 |
Pharosi | P55344, Tbio |
PROi | PR:P55344 |
RNActi | P55344, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000105370, Expressed in lens of camera-type eye and 26 other tissues |
Genevisiblei | P55344, HS |
Family and domain databases
InterProi | View protein in InterPro IPR003935, LMIP IPR004031, PMP22/EMP/MP20/Claudin IPR004032, PMP22_EMP_MP20 |
Pfami | View protein in Pfam PF00822, PMP22_Claudin, 1 hit |
PRINTSi | PR01453, EPMEMFAMILY PR01457, LENSMEMPROT |
PROSITEi | View protein in PROSITE PS01222, PMP22_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | LMIP_HUMAN | |
Accessioni | P55344Primary (citable) accession number: P55344 Secondary accession number(s): Q6B083, Q9BXD0, Q9HAR5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | December 5, 2001 | |
Last modified: | April 7, 2021 | |
This is version 166 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 19
Human chromosome 19: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families