LMIP_HUMAN
ID LMIP_HUMAN Reviewed; 173 AA.
AC P55344; Q6B083; Q9BXD0; Q9HAR5;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 05-DEC-2001, sequence version 2.
DT 03-AUG-2022, entry version 171.
DE RecName: Full=Lens fiber membrane intrinsic protein;
DE AltName: Full=MP18;
DE AltName: Full=MP19;
DE AltName: Full=MP20;
GN Name=LIM2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
RC TISSUE=Lens;
RX PubMed=8137630; DOI=10.3109/02713689309033503;
RA Church R.L., Wang J.H.;
RT "The human lens fiber-cell intrinsic membrane protein MP19 gene: isolation
RT and sequence analysis.";
RL Curr. Eye Res. 12:1057-1065(1993).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
RA Church R.L., Li X.L., Wang J.H.;
RT "Human chromosome 19q13.4 DNA sequence, including complete sequence for
RT LIM2 and NKG7.";
RL Submitted (SEP-2000) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND TISSUE
RP SPECIFICITY.
RC TISSUE=Lens;
RX PubMed=12107413;
RA Wistow G., Bernstein S.L., Wyatt M.K., Behal A., Touchman J.W.,
RA Bouffard G., Smith D., Peterson K.;
RT "Expressed sequence tag analysis of adult human lens for the NEIBank
RT project: over 2000 non-redundant transcripts, novel genes and splice
RT variants.";
RL Mol. Vis. 8:171-184(2002).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [6]
RP PROTEIN SEQUENCE OF 1-20.
RC TISSUE=Lens;
RX PubMed=2584203; DOI=10.1016/s0021-9258(19)47205-0;
RA Louis C.F., Hur K.C., Galvan A.C., Tenbroek E.M., Jarvis L.J.,
RA Eccleston E.D., Howard J.B.;
RT "Identification of an 18,000-dalton protein in mammalian lens fiber cell
RT membranes.";
RL J. Biol. Chem. 264:19967-19973(1989).
RN [7]
RP VARIANT CTRCT19 VAL-105.
RX PubMed=11917274; DOI=10.1086/340318;
RA Pras E., Levy-Nissenbaum E., Bakhan T., Lahat H., Assia E.,
RA Geffen-Carmi N., Frydman M., Goldman B., Pras E.;
RT "A missense mutation in the LIM2 gene is associated with autosomal
RT recessive presenile cataract in an inbred Iraqi Jewish family.";
RL Am. J. Hum. Genet. 70:1363-1367(2002).
CC -!- FUNCTION: Present in the thicker 16-17 nm junctions of mammalian lens
CC fiber cells, where it may contribute to cell junctional organization.
CC Acts as a receptor for calmodulin. May play an important role in both
CC lens development and cataractogenesis.
CC -!- SUBUNIT: Seems to be associated with itself or another lens membrane
CC component via disulfide bonds.
CC -!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=P55344-1; Sequence=Displayed;
CC Name=2; Synonyms=MP19ins;
CC IsoId=P55344-2; Sequence=VSP_005073;
CC -!- TISSUE SPECIFICITY: Eye lens specific. {ECO:0000269|PubMed:12107413}.
CC -!- DISEASE: Cataract, multiple types 19 (CTRCT19) [MIM:615277]: An
CC opacification of the crystalline lens of the eye that frequently
CC results in visual impairment or blindness. Opacities vary in
CC morphology, are often confined to a portion of the lens, and may be
CC static or progressive. In general, the more posteriorly located and
CC dense an opacity, the greater the impact on visual function.
CC {ECO:0000269|PubMed:11917274}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the PMP-22/EMP/MP20 family. {ECO:0000305}.
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DR EMBL; L04193; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AF305941; AAG32328.1; -; Genomic_DNA.
DR EMBL; AF340019; AAK26327.1; -; mRNA.
DR EMBL; AF340020; AAK26328.1; -; mRNA.
DR EMBL; CH471135; EAW72010.1; -; Genomic_DNA.
DR EMBL; BC069430; AAH69430.1; -; mRNA.
DR EMBL; BC074916; AAH74916.1; -; mRNA.
DR EMBL; BC074917; AAH74917.1; -; mRNA.
DR EMBL; BC126139; AAI26140.1; -; mRNA.
DR CCDS; CCDS12831.1; -. [P55344-2]
DR CCDS; CCDS59415.1; -. [P55344-1]
DR RefSeq; NP_001155220.1; NM_001161748.1. [P55344-1]
DR RefSeq; NP_085915.2; NM_030657.3. [P55344-2]
DR AlphaFoldDB; P55344; -.
DR SMR; P55344; -.
DR BioGRID; 110170; 1.
DR IntAct; P55344; 1.
DR GlyGen; P55344; 3 sites.
DR iPTMnet; P55344; -.
DR PhosphoSitePlus; P55344; -.
DR BioMuta; LIM2; -.
DR DMDM; 17433717; -.
DR PeptideAtlas; P55344; -.
DR PRIDE; P55344; -.
DR Antibodypedia; 46114; 139 antibodies from 22 providers.
DR DNASU; 3982; -.
DR Ensembl; ENST00000221973.7; ENSP00000221973.2; ENSG00000105370.8. [P55344-2]
DR Ensembl; ENST00000596399.2; ENSP00000472090.2; ENSG00000105370.8. [P55344-1]
DR GeneID; 3982; -.
DR KEGG; hsa:3982; -.
DR MANE-Select; ENST00000596399.2; ENSP00000472090.2; NM_001161748.2; NP_001155220.1.
DR UCSC; uc002pwl.3; human. [P55344-1]
DR CTD; 3982; -.
DR DisGeNET; 3982; -.
DR GeneCards; LIM2; -.
DR HGNC; HGNC:6610; LIM2.
DR HPA; ENSG00000105370; Not detected.
DR MalaCards; LIM2; -.
DR MIM; 154045; gene.
DR MIM; 615277; phenotype.
DR neXtProt; NX_P55344; -.
DR OpenTargets; ENSG00000105370; -.
DR Orphanet; 98994; Total early-onset cataract.
DR PharmGKB; PA30384; -.
DR VEuPathDB; HostDB:ENSG00000105370; -.
DR GeneTree; ENSGT01050000244814; -.
DR HOGENOM; CLU_113769_0_0_1; -.
DR InParanoid; P55344; -.
DR OMA; IMAFAQQ; -.
DR OrthoDB; 1279397at2759; -.
DR PhylomeDB; P55344; -.
DR TreeFam; TF330587; -.
DR PathwayCommons; P55344; -.
DR SignaLink; P55344; -.
DR BioGRID-ORCS; 3982; 5 hits in 1062 CRISPR screens.
DR GeneWiki; LIM2; -.
DR GenomeRNAi; 3982; -.
DR Pharos; P55344; Tbio.
DR PRO; PR:P55344; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; P55344; protein.
DR Bgee; ENSG00000105370; Expressed in lens of camera-type eye and 17 other tissues.
DR Genevisible; P55344; HS.
DR GO; GO:0030054; C:cell junction; NAS:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0031982; C:vesicle; IEA:Ensembl.
DR GO; GO:0005212; F:structural constituent of eye lens; IEA:UniProtKB-KW.
DR GO; GO:0007043; P:cell-cell junction assembly; NAS:UniProtKB.
DR GO; GO:0002088; P:lens development in camera-type eye; IEA:Ensembl.
DR InterPro; IPR003935; LMIP.
DR InterPro; IPR004031; PMP22/EMP/MP20/Claudin.
DR InterPro; IPR004032; PMP22_EMP_MP20.
DR Pfam; PF00822; PMP22_Claudin; 1.
DR PRINTS; PR01453; EPMEMFAMILY.
DR PRINTS; PR01457; LENSMEMPROT.
DR PROSITE; PS01222; PMP22_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cataract; Direct protein sequencing; Disease variant;
KW Disulfide bond; Eye lens protein; Glycoprotein; Membrane; Phosphoprotein;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..173
FT /note="Lens fiber membrane intrinsic protein"
FT /id="PRO_0000164664"
FT TOPO_DOM 1..3
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 4..24
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 25..66
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 67..87
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 88..98
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 99..119
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 120..140
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 141..161
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 162..173
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT MOD_RES 170
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P20274"
FT MOD_RES 171
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:P20274"
FT CARBOHYD 43
FT /note="C-linked (Man) tryptophan"
FT /evidence="ECO:0000250|UniProtKB:P20274"
FT CARBOHYD 61
FT /note="C-linked (Man) tryptophan"
FT /evidence="ECO:0000250|UniProtKB:P20274"
FT CARBOHYD 62
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 58
FT /note="I -> IGEPPGQGPGRAWGKSRADLGAQGHLYSRWRTLRLKEGKGATQ (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:12107413,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_005073"
FT VARIANT 105
FT /note="F -> V (in CTRCT19; dbSNP:rs121913555)"
FT /evidence="ECO:0000269|PubMed:11917274"
FT /id="VAR_069796"
FT CONFLICT 19
FT /note="L -> V (in Ref. 6; AA sequence)"
FT /evidence="ECO:0000305"
FT CONFLICT 109
FT /note="T -> S (in Ref. 1)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 173 AA; 19674 MW; 07DBA77184DA84AD CRC64;
MYSFMGGGLF CAWVGTILLV VAMATDHWMQ YRLSGSFAHQ GLWRYCLGNK CYLQTDSIAY
WNATRAFMIL SALCAISGII MGIMAFAHQP TFSRISRPFS AGIMFFSSTL FVVLALAIYT
GVTVSFLGRR FGDWRFSWSY ILGWVAVLMT FFAGIFYMCA YRVHECRRLS TPR
