Q5TDP6 (LGSN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Lengsin

Alternative name(s):
Glutamate-ammonia ligase domain-containing protein 1
Lens glutamine synthase-like

Gene names

Name:	LGSN
Synonyms:	GLULD1, LGS

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	509 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May act as a component of the cytoskeleton or as a chaperone for the reorganization of intermediate filament proteins during terminal differentiation in the lens. Does not seem to have enzymatic activity By similarity.
Subunit structure	Dodecamer. Interacts with BFSP2 AND VIM By similarity. Ref.1
Tissue specificity	Abundantly expressed in lens. Ref.1 Ref.2
Sequence similarities	Belongs to the glutamine synthetase family.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	glutamine biosynthetic process Inferred from electronic annotation. Source: InterPro
Molecular_function	glutamate-ammonia ligase activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q5TDP6-1)

Also known as: LGS_v2;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q5TDP6-2)

Also known as: LGS_v1;

The sequence of this isoform differs from the canonical sequence as follows:
     177-208: GEPLLTSPRYIAKRQLSHLQASGFSLLSAFIY → VSGMSIGRKTCSAALLELSSSRSLGKNGWQDS
     209-509: Missing.

Isoform 3 (identifier: Q5TDP6-3)

Also known as: LGS_v3;

The sequence of this isoform differs from the canonical sequence as follows:
     55-118: DCMRDSSQIL...FQEKVSHGVC → ERIRNQMVCH...PGGEFNPNSE
     119-509: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 509	509	Lengsin		PRO_0000153282
Natural variations
	Alternative sequence	55 – 118	64	DCMRD…SHGVC → ERIRNQMVCHKLGNTSKPIM GPGSAESHLSYDDKDSQDET TVIKPLPPRTTTNVPGGEFN PNSE in isoform 3.		VSP_036480
	Alternative sequence	119 – 509	391	Missing in isoform 3.		VSP_036481
	Alternative sequence	177 – 208	32	GEPLL…SAFIY → VSGMSIGRKTCSAALLELSS SRSLGKNGWQDS in isoform 2.		VSP_036482
	Alternative sequence	209 – 509	301	Missing in isoform 2.		VSP_036483
	Natural variant	26	1	N → Y. Corresponds to variant rs2459568 [ dbSNP | Ensembl ].		VAR_054552
	Natural variant	46	1	G → E. Corresponds to variant rs35691434 [ dbSNP | Ensembl ].		VAR_054553
	Natural variant	137	1	N → H. Corresponds to variant rs6454127 [ dbSNP | Ensembl ].		VAR_054554
Experimental info
	Sequence conflict	81	1	A → S in ABG75902. Ref.1
	Sequence conflict	472	1	L → Q in AAF61255. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (LGS_v2) [UniParc]. Last modified December 21, 2004. Version 1. Checksum: 86ACAC50866121BB	FASTA	509	57,278
	10 20 30 40 50 60 MNNEEDLLQE DSTRDEGNET EANSMNTLRR TRKKVTKPYV CSTEVGETDM SNSNDCMRDS 70 80 90 100 110 120 SQILTPPQLS SRMKHIRQAM AKNRLQFVRF EATDLHGVSR SKTIPAHFFQ EKVSHGVCMP 130 140 150 160 170 180 RGYLEVIPNP KDNEMNNIRA TCFNSDIVLM PELSTFRVLP WADRTARVIC DTFTVTGEPL 190 200 210 220 230 240 LTSPRYIAKR QLSHLQASGF SLLSAFIYDF CIFGVPEILN SKIISFPALT FLNNHDQPFM 250 260 270 280 290 300 QELVDGLYHT GANVESFSSS TRPGQMEISF LPEFGISSAD NAFTLRTGVK EVARKYNYIA 310 320 330 340 350 360 SFFIETGFCD SGILSHSLWD VDRKKNMFCS TSGTEQLTIT GKKWLAGLLK HSAALSCLMA 370 380 390 400 410 420 PSVSCRKRYS KDRKDLKKSV PTTWGYNDNS CIFNIKCHGE KGTRIENKLG SATANPYLVL 430 440 450 460 470 480 AATVAAGLDG LHSSNEVLAG PDESTDFYQV EPSEIPLKLE DALVALEEDQ CLRQALGETF 490 500 IRYFVAMKKY ELENEEIAAE RNKFLEYFI
	Isoform 2 (LGS_v1) [UniParc]. Checksum: 4CAA3FB3F7E13E82	FASTA	208	23,471
	10 20 30 40 50 60 MNNEEDLLQE DSTRDEGNET EANSMNTLRR TRKKVTKPYV CSTEVGETDM SNSNDCMRDS 70 80 90 100 110 120 SQILTPPQLS SRMKHIRQAM AKNRLQFVRF EATDLHGVSR SKTIPAHFFQ EKVSHGVCMP 130 140 150 160 170 180 RGYLEVIPNP KDNEMNNIRA TCFNSDIVLM PELSTFRVLP WADRTARVIC DTFTVTVSGM 190 200 SIGRKTCSAA LLELSSSRSL GKNGWQDS
	Isoform 3 (LGS_v3) [UniParc]. Checksum: 28AC9954C429235B	FASTA	118	13,175
	10 20 30 40 50 60 MNNEEDLLQE DSTRDEGNET EANSMNTLRR TRKKVTKPYV CSTEVGETDM SNSNERIRNQ 70 80 90 100 110 MVCHKLGNTS KPIMGPGSAE SHLSYDDKDS QDETTVIKPL PPRTTTNVPG GEFNPNSE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Structural and functional properties of lengsin, a pseudo-glutamine synthetase in the transparent human lens." Grassi F., Moretto N., Rivetti C., Cellai S., Betti M., Marquez A.J., Maraini G., Ottonello S. Biochem. Biophys. Res. Commun. 350:424-429(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 3), SUBUNIT, TISSUE SPECIFICITY.
[2]	"Expressed sequence tag analysis of adult human lens for the NEIBank project: over 2000 non-redundant transcripts, novel genes and splice variants." Wistow G., Bernstein S.L., Wyatt M.K., Behal A., Touchman J.W., Bouffard G., Smith D., Peterson K. Mol. Vis. 8:171-184(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), TISSUE SPECIFICITY. Tissue: Lens.
[3]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	DQ682605 mRNA. Translation: ABG75902.1. DQ682606 mRNA. Translation: ABG75903.1. AF242388 mRNA. Translation: AAF61255.1. AL121949, AL590456 Genomic DNA. Translation: CAI20481.1. CH471143 Genomic DNA. Translation: EAW88493.1. BC130366 mRNA. Translation: AAI30367.1. BC130368 mRNA. Translation: AAI30369.1.
IPI	IPI00009831. IPI00784706. IPI00784892.
RefSeq	NP_001137412.1. NM_001143940.1. NP_057655.2. NM_016571.2.
UniGene	Hs.149585.
3D structure databases
ProteinModelPortal	Q5TDP6.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000359691.
PTM databases
PhosphoSite	Q5TDP6.
Polymorphism databases
DMDM	67465079.
Proteomic databases
PaxDb	Q5TDP6.
PeptideAtlas	Q5TDP6.
PRIDE	Q5TDP6.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000370657; ENSP00000359691; ENSG00000146166. ENST00000370658; ENSP00000359692; ENSG00000146166. ENST00000485906; ENSP00000431246; ENSG00000146166.
GeneID	51557.
KEGG	hsa:51557.
UCSC	uc003peh.3. human. uc003pei.3. human. uc003pej.1. human.
Organism-specific databases
CTD	51557.
GeneCards	GC06M064048.
HGNC	HGNC:21016. LGSN.
HPA	HPA030957.
MIM	611470. gene.
neXtProt	NX_Q5TDP6.
PharmGKB	PA164722103.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0174.
HOGENOM	HOG000113321.
HOVERGEN	HBG051740.
InParanoid	Q5TDP6.
OMA	DQCLRQA.
OrthoDB	EOG4N30NJ.
PhylomeDB	Q5TDP6.
Gene expression databases
Bgee	Q5TDP6.
CleanEx	HS_LGSN.
Genevestigator	Q5TDP6.
GermOnline	ENSG00000146166. Homo sapiens.
Family and domain databases
Gene3D	3.10.20.70. 1 hit. 3.30.590.10. 1 hit.
InterPro	IPR008147. Gln_synt_beta. IPR014746. Gln_synth/guanido_kin_cat_dom. IPR008146. Gln_synth_cat_dom. [Graphical view]
Pfam	PF00120. Gln-synt_C. 1 hit. PF03951. Gln-synt_N. 1 hit. [Graphical view]
SUPFAM	SSF54368. Gln_synt_beta. 1 hit.
PROSITE	PS00180. GLNA_1. False negative. PS00181. GLNA_ATP. False negative. [Graphical view]
ProtoNet	Search...
Other
DrugBank	DB00142. L-Glutamic Acid.
GenomeRNAi	51557.
NextBio	55348.
SOURCE	Search...

Entry information

Entry name

LGSN_HUMAN

Accession

Primary (citable) accession number: Q5TDP6
Secondary accession number(s): A1L421 , Q0PVN9, Q0PVP0, Q9NYJ0

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 1, 2005
Last sequence update:	December 21, 2004
Last modified:	May 1, 2013
This is version 74 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.