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LGSN lengsin, lens protein with glutamine synthetase domain [ Homo sapiens (human) ]

Gene ID: 51557, updated on 10-Dec-2019

Summary

Official Symbol
LGSNprovided by HGNC
Official Full Name
lengsin, lens protein with glutamine synthetase domainprovided by HGNC
Primary source
HGNC:HGNC:21016
See related
Ensembl:ENSG00000146166 MIM:611470
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
LGS; GLULD1
Summary
This gene encodes a protein with similarity to the GS I members of the glutamine synthetase superfamily. The encoded protein is referred to as a pseudo-glutamine synthetase because it has no glutamine synthesis activity and may function as a chaperone protein. This protein is localized to the lens and may be associated with cataract disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See LGSN in Genome Data Viewer
Location:
6q12
Exon count:
16
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (63275951..63567921, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (63985856..64029882, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene putative UPF0607 protein ENSP00000383144 pseudogene Neighboring gene serine palmitoyltransferase long chain base subunit 1 pseudogene 3 Neighboring gene DENN domain containing 1C pseudogene Neighboring gene leucine rich repeat containing 59 pseudogene Neighboring gene HNF1 motif-containing MPRA enhancer 15 Neighboring gene eukaryotic translation elongation factor 1 beta 2 pseudogene 5 Neighboring gene protein tyrosine phosphatase 4A1 Neighboring gene ribosomal protein L7a pseudogene 34 Neighboring gene Sharpr-MPRA regulatory region 1413 Neighboring gene ribosomal protein L9 pseudogene 18

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 Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC163238, MGC163240

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT glutamate-ammonia ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
NOT glutamine biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NOT nitrogen utilization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
lengsin
Names
glutamate-ammonia ligase (glutamine synthase) domain containing 1
glutamate-ammonia ligase domain-containing protein 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.

mRNA and Protein(s)

  1. NM_001143940.1NP_001137412.1  lengsin isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate segment of the 3' coding region, compared to variant 1, that causes a frameshift. The resulting protein (isoform b) has a distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AF242388, AL450346, AL590456, DQ682605
    Consensus CDS
    CCDS55027.1
    UniProtKB/Swiss-Prot
    Q5TDP6
    Related
    ENSP00000359692.5, ENST00000370658.9
    Conserved Domains (1) summary
    pfam03951
    Location:86171
    Gln-synt_N; Glutamine synthetase, beta-Grasp domain
  2. NM_016571.3NP_057655.2  lengsin isoform a

    See identical proteins and their annotated locations for NP_057655.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AF242388, AL121949, AL450346, AL590456, BC130368
    Consensus CDS
    CCDS4964.1
    UniProtKB/Swiss-Prot
    Q5TDP6
    Related
    ENSP00000359691.4, ENST00000370657.9
    Conserved Domains (3) summary
    COG0174
    Location:81493
    GlnA; Glutamine synthetase [Amino acid transport and metabolism]
    pfam00120
    Location:183507
    Gln-synt_C; Glutamine synthetase, catalytic domain
    pfam03951
    Location:86171
    Gln-synt_N; Glutamine synthetase, beta-Grasp domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    63275951..63567921 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010929.2XP_016866418.1  lengsin isoform X1

    Conserved Domains (3) summary
    COG0174
    Location:162574
    GlnA; Glutamine synthetase [Amino acid transport and metabolism]
    pfam00120
    Location:264588
    Gln-synt_C; Glutamine synthetase, catalytic domain
    pfam03951
    Location:167252
    Gln-synt_N; Glutamine synthetase, beta-Grasp domain
  2. XM_017010930.2XP_016866419.1  lengsin isoform X1

    Conserved Domains (3) summary
    COG0174
    Location:162574
    GlnA; Glutamine synthetase [Amino acid transport and metabolism]
    pfam00120
    Location:264588
    Gln-synt_C; Glutamine synthetase, catalytic domain
    pfam03951
    Location:167252
    Gln-synt_N; Glutamine synthetase, beta-Grasp domain
  3. XM_017010931.2XP_016866420.1  lengsin isoform X3

  4. XM_011535892.3XP_011534194.1  lengsin isoform X2

    See identical proteins and their annotated locations for XP_011534194.1

    Conserved Domains (3) summary
    COG0174
    Location:120532
    GlnA; Glutamine synthetase [Amino acid transport and metabolism]
    pfam00120
    Location:222546
    Gln-synt_C; Glutamine synthetase, catalytic domain
    pfam03951
    Location:125210
    Gln-synt_N; Glutamine synthetase, beta-Grasp domain
  5. XM_011535889.3XP_011534191.1  lengsin isoform X1

    Conserved Domains (3) summary
    COG0174
    Location:162574
    GlnA; Glutamine synthetase [Amino acid transport and metabolism]
    pfam00120
    Location:264588
    Gln-synt_C; Glutamine synthetase, catalytic domain
    pfam03951
    Location:167252
    Gln-synt_N; Glutamine synthetase, beta-Grasp domain
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