LGSN_HUMAN
ID LGSN_HUMAN Reviewed; 509 AA.
AC Q5TDP6; A1L421; Q0PVN9; Q0PVP0; Q9NYJ0;
DT 01-FEB-2005, integrated into UniProtKB/Swiss-Prot.
DT 21-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=Lengsin;
DE AltName: Full=Glutamate-ammonia ligase domain-containing protein 1;
DE AltName: Full=Lens glutamine synthase-like;
GN Name=LGSN; Synonyms=GLULD1, LGS;
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 [MRNA] (ISOFORMS 2 AND 3), SUBUNIT, AND TISSUE
RP SPECIFICITY.
RX PubMed=17010935; DOI=10.1016/j.bbrc.2006.09.062;
RA Grassi F., Moretto N., Rivetti C., Cellai S., Betti M., Marquez A.J.,
RA Maraini G., Ottonello S.;
RT "Structural and functional properties of lengsin, a pseudo-glutamine
RT synthetase in the transparent human lens.";
RL Biochem. Biophys. Res. Commun. 350:424-429(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND TISSUE 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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
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 1).
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).
CC -!- FUNCTION: May act as a component of the cytoskeleton or as a chaperone
CC for the reorganization of intermediate filament proteins during
CC terminal differentiation in the lens. Does not seem to have enzymatic
CC activity (By similarity). {ECO:0000250}.
CC -!- SUBUNIT: Dodecamer. Interacts with BFSP2 AND VIM (By similarity).
CC {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1; Synonyms=LGS_v2;
CC IsoId=Q5TDP6-1; Sequence=Displayed;
CC Name=2; Synonyms=LGS_v1;
CC IsoId=Q5TDP6-2; Sequence=VSP_036482, VSP_036483;
CC Name=3; Synonyms=LGS_v3;
CC IsoId=Q5TDP6-3; Sequence=VSP_036480, VSP_036481;
CC -!- TISSUE SPECIFICITY: Abundantly expressed in lens.
CC {ECO:0000269|PubMed:12107413, ECO:0000269|PubMed:17010935}.
CC -!- SIMILARITY: Belongs to the glutamine synthetase family. {ECO:0000305}.
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DR EMBL; DQ682605; ABG75902.1; -; mRNA.
DR EMBL; DQ682606; ABG75903.1; -; mRNA.
DR EMBL; AF242388; AAF61255.1; -; mRNA.
DR EMBL; AL121949; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL590456; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471143; EAW88493.1; -; Genomic_DNA.
DR EMBL; BC130366; AAI30367.1; -; mRNA.
DR EMBL; BC130368; AAI30369.1; -; mRNA.
DR CCDS; CCDS4964.1; -. [Q5TDP6-1]
DR CCDS; CCDS55027.1; -. [Q5TDP6-2]
DR RefSeq; NP_001137412.1; NM_001143940.1. [Q5TDP6-2]
DR RefSeq; NP_057655.2; NM_016571.2. [Q5TDP6-1]
DR AlphaFoldDB; Q5TDP6; -.
DR SMR; Q5TDP6; -.
DR BioGRID; 119608; 3.
DR IntAct; Q5TDP6; 2.
DR MINT; Q5TDP6; -.
DR STRING; 9606.ENSP00000359691; -.
DR iPTMnet; Q5TDP6; -.
DR PhosphoSitePlus; Q5TDP6; -.
DR BioMuta; LGSN; -.
DR DMDM; 67465079; -.
DR MassIVE; Q5TDP6; -.
DR PaxDb; Q5TDP6; -.
DR PeptideAtlas; Q5TDP6; -.
DR PRIDE; Q5TDP6; -.
DR ProteomicsDB; 65029; -. [Q5TDP6-1]
DR ProteomicsDB; 65030; -. [Q5TDP6-2]
DR Antibodypedia; 49358; 34 antibodies from 14 providers.
DR DNASU; 51557; -.
DR Ensembl; ENST00000370657.9; ENSP00000359691.4; ENSG00000146166.17. [Q5TDP6-1]
DR Ensembl; ENST00000370658.9; ENSP00000359692.5; ENSG00000146166.17. [Q5TDP6-2]
DR Ensembl; ENST00000622415.1; ENSP00000479173.1; ENSG00000146166.17. [Q5TDP6-3]
DR GeneID; 51557; -.
DR KEGG; hsa:51557; -.
DR MANE-Select; ENST00000370657.9; ENSP00000359691.4; NM_016571.3; NP_057655.2.
DR UCSC; uc003peh.4; human. [Q5TDP6-1]
DR CTD; 51557; -.
DR DisGeNET; 51557; -.
DR GeneCards; LGSN; -.
DR HGNC; HGNC:21016; LGSN.
DR HPA; ENSG00000146166; Group enriched (kidney, liver, placenta).
DR MIM; 611470; gene.
DR neXtProt; NX_Q5TDP6; -.
DR OpenTargets; ENSG00000146166; -.
DR PharmGKB; PA164722103; -.
DR VEuPathDB; HostDB:ENSG00000146166; -.
DR eggNOG; KOG0683; Eukaryota.
DR GeneTree; ENSGT00390000013639; -.
DR HOGENOM; CLU_1424525_0_0_1; -.
DR InParanoid; Q5TDP6; -.
DR OMA; TFYTHPE; -.
DR OrthoDB; 1424442at2759; -.
DR PhylomeDB; Q5TDP6; -.
DR TreeFam; TF331605; -.
DR PathwayCommons; Q5TDP6; -.
DR SignaLink; Q5TDP6; -.
DR BioGRID-ORCS; 51557; 28 hits in 1069 CRISPR screens.
DR ChiTaRS; LGSN; human.
DR GenomeRNAi; 51557; -.
DR Pharos; Q5TDP6; Tbio.
DR PRO; PR:Q5TDP6; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q5TDP6; protein.
DR Bgee; ENSG00000146166; Expressed in buccal mucosa cell and 52 other tissues.
DR ExpressionAtlas; Q5TDP6; baseline and differential.
DR Genevisible; Q5TDP6; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0016020; C:membrane; IBA:GO_Central.
DR GO; GO:0005886; C:plasma membrane; IEA:Ensembl.
DR GO; GO:0003824; F:catalytic activity; IEA:InterPro.
DR GO; GO:0006807; P:nitrogen compound metabolic process; IEA:InterPro.
DR Gene3D; 3.10.20.70; -; 1.
DR InterPro; IPR036651; Gln_synt_N.
DR InterPro; IPR014746; Gln_synth/guanido_kin_cat_dom.
DR InterPro; IPR008146; Gln_synth_cat_dom.
DR Pfam; PF00120; Gln-synt_C; 1.
DR SMART; SM01230; Gln-synt_C; 1.
DR SUPFAM; SSF54368; SSF54368; 1.
DR SUPFAM; SSF55931; SSF55931; 1.
DR PROSITE; PS51986; GS_BETA_GRASP; 1.
DR PROSITE; PS51987; GS_CATALYTIC; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..509
FT /note="Lengsin"
FT /id="PRO_0000153282"
FT DOMAIN 83..177
FT /note="GS beta-grasp"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01330"
FT DOMAIN 184..509
FT /note="GS catalytic"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01331"
FT REGION 1..34
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 55..118
FT /note="DCMRDSSQILTPPQLSSRMKHIRQAMAKNRLQFVRFEATDLHGVSRSKTIPA
FT HFFQEKVSHGVC -> ERIRNQMVCHKLGNTSKPIMGPGSAESHLSYDDKDSQDETTVI
FT KPLPPRTTTNVPGGEFNPNSE (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:17010935"
FT /id="VSP_036480"
FT VAR_SEQ 119..509
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:17010935"
FT /id="VSP_036481"
FT VAR_SEQ 177..208
FT /note="GEPLLTSPRYIAKRQLSHLQASGFSLLSAFIY -> VSGMSIGRKTCSAALL
FT ELSSSRSLGKNGWQDS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17010935"
FT /id="VSP_036482"
FT VAR_SEQ 209..509
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17010935"
FT /id="VSP_036483"
FT VARIANT 26
FT /note="N -> Y (in dbSNP:rs2459568)"
FT /id="VAR_054552"
FT VARIANT 46
FT /note="G -> E (in dbSNP:rs35691434)"
FT /id="VAR_054553"
FT VARIANT 137
FT /note="N -> H (in dbSNP:rs6454127)"
FT /id="VAR_054554"
FT CONFLICT 81
FT /note="A -> S (in Ref. 1; ABG75902)"
FT /evidence="ECO:0000305"
FT CONFLICT 472
FT /note="L -> Q (in Ref. 2; AAF61255)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 509 AA; 57278 MW; 86ACAC50866121BB CRC64;
MNNEEDLLQE DSTRDEGNET EANSMNTLRR TRKKVTKPYV CSTEVGETDM SNSNDCMRDS
SQILTPPQLS SRMKHIRQAM AKNRLQFVRF EATDLHGVSR SKTIPAHFFQ EKVSHGVCMP
RGYLEVIPNP KDNEMNNIRA TCFNSDIVLM PELSTFRVLP WADRTARVIC DTFTVTGEPL
LTSPRYIAKR QLSHLQASGF SLLSAFIYDF CIFGVPEILN SKIISFPALT FLNNHDQPFM
QELVDGLYHT GANVESFSSS TRPGQMEISF LPEFGISSAD NAFTLRTGVK EVARKYNYIA
SFFIETGFCD SGILSHSLWD VDRKKNMFCS TSGTEQLTIT GKKWLAGLLK HSAALSCLMA
PSVSCRKRYS KDRKDLKKSV PTTWGYNDNS CIFNIKCHGE KGTRIENKLG SATANPYLVL
AATVAAGLDG LHSSNEVLAG PDESTDFYQV EPSEIPLKLE DALVALEEDQ CLRQALGETF
IRYFVAMKKY ELENEEIAAE RNKFLEYFI
