LGSN (lengsin, lens protein with glutamine synthetase domain) - Rat Genome Database

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Gene: LGSN (lengsin, lens protein with glutamine synthetase domain) Homo sapiens
Analyze
Symbol: LGSN
Name: lengsin, lens protein with glutamine synthetase domain
RGD ID: 1344000
HGNC Page HGNC:21016
Description: Predicted to enable glutamine synthetase activity. Predicted to be involved in glutamine biosynthetic process. Predicted to be located in plasma membrane. Predicted to be active in cytoplasm and membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: GLULD1; glutamate-ammonia ligase (glutamine synthase) domain containing 1; glutamate-ammonia ligase domain-containing protein 1; lengsin; lens glutamine synthase-like; lens glutamine synthetase-like; LGS; MGC163238; MGC163240
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38663,275,951 - 63,573,607 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl663,275,951 - 63,319,983 (-)EnsemblGRCh38hg38GRCh38
GRCh37663,985,856 - 64,029,888 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36664,047,515 - 64,087,841 (-)NCBINCBI36Build 36hg18NCBI36
Build 34664,047,520 - 64,087,841NCBI
Celera662,145,321 - 62,189,340 (-)NCBICelera
Cytogenetic Map6q12NCBI
HuRef661,165,803 - 61,209,830 (-)NCBIHuRef
CHM1_1664,152,120 - 64,196,163 (-)NCBICHM1_1
T2T-CHM13v2.0664,421,831 - 64,588,322 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12107412   PMID:12107413   PMID:12477932   PMID:14574404   PMID:16005676   PMID:16273301   PMID:17010935   PMID:17161372   PMID:19459848   PMID:20379614   PMID:21621269   PMID:21873635  
PMID:23251661   PMID:25798074   PMID:26344197   PMID:37071682  


Genomics

Comparative Map Data
LGSN
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38663,275,951 - 63,573,607 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl663,275,951 - 63,319,983 (-)EnsemblGRCh38hg38GRCh38
GRCh37663,985,856 - 64,029,888 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36664,047,515 - 64,087,841 (-)NCBINCBI36Build 36hg18NCBI36
Build 34664,047,520 - 64,087,841NCBI
Celera662,145,321 - 62,189,340 (-)NCBICelera
Cytogenetic Map6q12NCBI
HuRef661,165,803 - 61,209,830 (-)NCBIHuRef
CHM1_1664,152,120 - 64,196,163 (-)NCBICHM1_1
T2T-CHM13v2.0664,421,831 - 64,588,322 (-)NCBIT2T-CHM13v2.0
Lgsn
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39131,215,362 - 31,243,806 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl131,215,482 - 31,243,806 (+)EnsemblGRCm39 Ensembl
GRCm38131,176,281 - 31,204,725 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl131,176,401 - 31,204,725 (+)EnsemblGRCm38mm10GRCm38
MGSCv37131,233,280 - 31,261,570 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36131,120,981 - 31,149,271 (+)NCBIMGSCv36mm8
Celera130,973,296 - 31,001,446 (+)NCBICelera
Cytogenetic Map1BNCBI
cM Map111.53NCBI
Lgsn
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8940,912,398 - 40,943,955 (+)NCBIGRCr8
mRatBN7.2933,416,362 - 33,447,919 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl933,420,484 - 33,447,907 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx941,913,213 - 41,940,643 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0947,045,193 - 47,072,615 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0945,327,050 - 45,354,472 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0937,458,603 - 37,490,117 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl937,462,693 - 37,490,108 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0936,263,149 - 36,294,523 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4929,844,176 - 29,871,557 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1929,845,589 - 29,872,970 (+)NCBI
Celera931,238,716 - 31,265,934 (+)NCBICelera
Cytogenetic Map9q21NCBI
Lgsn
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955502483,191 - 552,272 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955502522,492 - 551,842 (+)NCBIChiLan1.0ChiLan1.0
LGSN
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2578,141,446 - 78,185,404 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1672,801,340 - 72,845,297 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0660,964,873 - 61,008,833 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1666,235,347 - 66,279,272 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl666,239,052 - 66,280,600 (-)Ensemblpanpan1.1panPan2
LGSN
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11226,852,832 - 26,884,307 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1226,852,851 - 26,919,138 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1226,761,476 - 26,792,749 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01227,389,310 - 27,419,270 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1227,389,326 - 27,454,223 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11226,894,374 - 26,924,142 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01226,976,959 - 27,006,723 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01227,074,028 - 27,103,801 (-)NCBIUU_Cfam_GSD_1.0
Lgsn
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494662,303,468 - 62,335,915 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364761,624,222 - 1,659,510 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364761,624,287 - 1,656,734 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LGSN
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl182,360,774 - 82,387,717 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1182,360,058 - 82,388,479 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2192,641,343 - 92,671,894 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LGSN
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11711,419,089 - 11,505,533 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605817,765,855 - 17,806,536 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lgsn
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475321,650,655 - 21,679,764 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475321,645,389 - 21,694,557 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LGSN
58 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001143940.1(LGSN):c.43G>A (p.Asp15Asn) single nucleotide variant Malignant melanoma [RCV000061470] Chr6:63295033 [GRCh38]
Chr6:64004938 [GRCh37]
Chr6:64062897 [NCBI36]
Chr6:6q12		 not provided
GRCh38/hg38 6q11.1-12(chr6:61468685-63437335)x1 copy number loss See cases [RCV000134159] Chr6:61468685..63437335 [GRCh38]
Chr6:61971892..64147240 [GRCh37]
Chr6:62029851..64205199 [NCBI36]
Chr6:6q11.1-12		 uncertain significance
GRCh38/hg38 6p12.1-q12(chr6:53931543-68149750)x3 copy number gain See cases [RCV000137097] Chr6:53931543..68149750 [GRCh38]
Chr6:53796341..68859642 [GRCh37]
Chr6:53904300..68916363 [NCBI36]
Chr6:6p12.1-q12		 pathogenic
GRCh38/hg38 6p11.2-q12(chr6:57466921-68712228)x3 copy number gain See cases [RCV000138052] Chr6:57466921..68712228 [GRCh38]
Chr6:57329882..69422120 [GRCh37]
Chr6:57437841..69478841 [NCBI36]
Chr6:6p11.2-q12		 pathogenic
NC_000006.12:g.63335135T>A single nucleotide variant Lung cancer [RCV000097045] Chr6:63335135 [GRCh38]
Chr6:64045040 [GRCh37]
Chr6:6q12		 uncertain significance
NC_000006.12:g.63423370G>C single nucleotide variant Lung cancer [RCV000097046] Chr6:63423370 [GRCh38]
Chr6:64133275 [GRCh37]
Chr6:6q12		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_016571.3(LGSN):c.358C>T (p.Pro120Ser) single nucleotide variant not specified [RCV004308815] Chr6:63281193 [GRCh38]
Chr6:63991098 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.998G>A (p.Gly333Glu) single nucleotide variant not specified [RCV004286385] Chr6:63280553 [GRCh38]
Chr6:63990458 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.703C>G (p.His235Asp) single nucleotide variant not specified [RCV004317353] Chr6:63280848 [GRCh38]
Chr6:63990753 [GRCh37]
Chr6:6q12		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q12(chr6:63986735-64072159)x3 copy number gain not provided [RCV000745778] Chr6:63986735..64072159 [GRCh37]
Chr6:6q12		 benign
NM_016571.3(LGSN):c.1325A>G (p.Asp442Gly) single nucleotide variant not provided [RCV000965011] Chr6:63280226 [GRCh38]
Chr6:63990131 [GRCh37]
Chr6:6q12		 benign
GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367) copy number gain not provided [RCV000767714] Chr6:29455465..81447367 [GRCh37]
Chr6:6p22.1-q14.1		 pathogenic
GRCh37/hg19 6q11.1-12(chr6:62940652-64186737)x3 copy number gain not provided [RCV001005801] Chr6:62940652..64186737 [GRCh37]
Chr6:6q11.1-12		 uncertain significance
GRCh37/hg19 6q12(chr6:63902370-64135193)x1 copy number loss not provided [RCV001827785] Chr6:63902370..64135193 [GRCh37]
Chr6:6q12		 uncertain significance
GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3 copy number gain not provided [RCV002221457] Chr6:43636308..64947206 [GRCh37]
Chr6:6p21.1-q12		 likely pathogenic
NM_016571.3(LGSN):c.765G>T (p.Glu255Asp) single nucleotide variant not specified [RCV004326783] Chr6:63280786 [GRCh38]
Chr6:63990691 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.1525A>G (p.Ile509Val) single nucleotide variant not specified [RCV004108373] Chr6:63280026 [GRCh38]
Chr6:63989931 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.623A>G (p.Tyr208Cys) single nucleotide variant not specified [RCV004223767] Chr6:63280928 [GRCh38]
Chr6:63990833 [GRCh37]
Chr6:6q12		 likely benign
NM_016571.3(LGSN):c.1265C>T (p.Ala422Val) single nucleotide variant not specified [RCV004115435] Chr6:63280286 [GRCh38]
Chr6:63990191 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.1085C>T (p.Ser362Phe) single nucleotide variant not specified [RCV004220604] Chr6:63280466 [GRCh38]
Chr6:63990371 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.698A>G (p.Asn233Ser) single nucleotide variant not specified [RCV004117048] Chr6:63280853 [GRCh38]
Chr6:63990758 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.911T>C (p.Ile304Thr) single nucleotide variant not specified [RCV004188026] Chr6:63280640 [GRCh38]
Chr6:63990545 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.1423G>A (p.Ala475Thr) single nucleotide variant not specified [RCV004245366] Chr6:63280128 [GRCh38]
Chr6:63990033 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.493A>G (p.Thr165Ala) single nucleotide variant not specified [RCV004166668] Chr6:63281058 [GRCh38]
Chr6:63990963 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.1423G>C (p.Ala475Pro) single nucleotide variant not specified [RCV004140991] Chr6:63280128 [GRCh38]
Chr6:63990033 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.733G>A (p.Asp245Asn) single nucleotide variant not specified [RCV004072519] Chr6:63280818 [GRCh38]
Chr6:63990723 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.1152G>C (p.Trp384Cys) single nucleotide variant not specified [RCV004090684] Chr6:63280399 [GRCh38]
Chr6:63990304 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.1511T>A (p.Phe504Tyr) single nucleotide variant not specified [RCV004249356] Chr6:63280040 [GRCh38]
Chr6:63989945 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.289G>A (p.Gly97Ser) single nucleotide variant not specified [RCV004270406] Chr6:63285628 [GRCh38]
Chr6:63995533 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.415A>G (p.Arg139Gly) single nucleotide variant not specified [RCV004269448] Chr6:63281136 [GRCh38]
Chr6:63991041 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.1013C>T (p.Thr338Met) single nucleotide variant not specified [RCV004249145] Chr6:63280538 [GRCh38]
Chr6:63990443 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.1097G>A (p.Arg366Gln) single nucleotide variant not specified [RCV004297136] Chr6:63280454 [GRCh38]
Chr6:63990359 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.1211G>A (p.Arg404Gln) single nucleotide variant not specified [RCV004254346] Chr6:63280340 [GRCh38]
Chr6:63990245 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.640G>A (p.Gly214Ser) single nucleotide variant not specified [RCV004255747] Chr6:63280911 [GRCh38]
Chr6:63990816 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.456G>T (p.Glu152Asp) single nucleotide variant not specified [RCV004348749] Chr6:63281095 [GRCh38]
Chr6:63991000 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.1477G>C (p.Glu493Gln) single nucleotide variant not specified [RCV004359027] Chr6:63280074 [GRCh38]
Chr6:63989979 [GRCh37]
Chr6:6q12		 uncertain significance
GRCh37/hg19 6q11.1-12(chr6:61886427-67715541)x1 copy number loss not provided [RCV003485513] Chr6:61886427..67715541 [GRCh37]
Chr6:6q11.1-12		 uncertain significance
GRCh37/hg19 6q12(chr6:63754977-64058027)x3 copy number gain not provided [RCV003484642] Chr6:63754977..64058027 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.1345C>G (p.Gln449Glu) single nucleotide variant not specified [RCV004414963] Chr6:63280206 [GRCh38]
Chr6:63990111 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.52A>G (p.Asn18Asp) single nucleotide variant not specified [RCV004414965] Chr6:63295024 [GRCh38]
Chr6:64004929 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.627T>G (p.Asp209Glu) single nucleotide variant not specified [RCV004414966] Chr6:63280924 [GRCh38]
Chr6:63990829 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.632G>A (p.Cys211Tyr) single nucleotide variant not specified [RCV004414967] Chr6:63280919 [GRCh38]
Chr6:63990824 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.676T>A (p.Phe226Ile) single nucleotide variant not specified [RCV004414968] Chr6:63280875 [GRCh38]
Chr6:63990780 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.1183A>G (p.Ile395Val) single nucleotide variant not specified [RCV004414961] Chr6:63280368 [GRCh38]
Chr6:63990273 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.280G>T (p.Asp94Tyr) single nucleotide variant not specified [RCV004414964] Chr6:63285637 [GRCh38]
Chr6:63995542 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.1340T>C (p.Phe447Ser) single nucleotide variant not specified [RCV004414962] Chr6:63280211 [GRCh38]
Chr6:63990116 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.1011C>T (p.Leu337=) single nucleotide variant not specified [RCV004414960] Chr6:63280540 [GRCh38]
Chr6:63990445 [GRCh37]
Chr6:6q12		 likely benign
NM_016571.3(LGSN):c.311T>A (p.Ile104Asn) single nucleotide variant not specified [RCV004642439] Chr6:63285606 [GRCh38]
Chr6:63995511 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.232C>A (p.Gln78Lys) single nucleotide variant not specified [RCV004642437] Chr6:63285685 [GRCh38]
Chr6:63995590 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.250C>T (p.Arg84Cys) single nucleotide variant not specified [RCV004633962] Chr6:63285667 [GRCh38]
Chr6:63995572 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.1354C>T (p.Pro452Ser) single nucleotide variant not specified [RCV004633959] Chr6:63280197 [GRCh38]
Chr6:63990102 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.1474T>A (p.Leu492Met) single nucleotide variant not specified [RCV004642436] Chr6:63280077 [GRCh38]
Chr6:63989982 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.353G>T (p.Cys118Phe) single nucleotide variant not specified [RCV004642438] Chr6:63281198 [GRCh38]
Chr6:63991103 [GRCh37]
Chr6:6q12		 likely benign
NM_016571.3(LGSN):c.589G>A (p.Ala197Thr) single nucleotide variant not specified [RCV004633961] Chr6:63280962 [GRCh38]
Chr6:63990867 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.1331G>A (p.Ser444Asn) single nucleotide variant not specified [RCV004941771] Chr6:63280220 [GRCh38]
Chr6:63990125 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.1280G>A (p.Gly427Asp) single nucleotide variant not specified [RCV004941772] Chr6:63280271 [GRCh38]
Chr6:63990176 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.77A>G (p.Asn26Ser) single nucleotide variant not specified [RCV004941773] Chr6:63294999 [GRCh38]
Chr6:64004904 [GRCh37]
Chr6:6q12		 likely benign
NM_016571.3(LGSN):c.143C>T (p.Thr48Met) single nucleotide variant not specified [RCV004941768] Chr6:63294933 [GRCh38]
Chr6:64004838 [GRCh37]
Chr6:6q12		 likely benign
NM_016571.3(LGSN):c.1453G>A (p.Val485Ile) single nucleotide variant not specified [RCV004941774] Chr6:63280098 [GRCh38]
Chr6:63990003 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.740T>G (p.Leu247Trp) single nucleotide variant not specified [RCV004941770] Chr6:63280811 [GRCh38]
Chr6:63990716 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.355A>G (p.Met119Val) single nucleotide variant not specified [RCV004941775] Chr6:63281196 [GRCh38]
Chr6:63991101 [GRCh37]
Chr6:6q12		 uncertain significance
NM_016571.3(LGSN):c.515C>A (p.Thr172Asn) single nucleotide variant not specified [RCV004941776] Chr6:63281036 [GRCh38]
Chr6:63990941 [GRCh37]
Chr6:6q12		 uncertain significance
GRCh37/hg19 6q11.1-12(chr6:63139149-64461593)x3 copy number gain not provided [RCV004819504] Chr6:63139149..64461593 [GRCh37]
Chr6:6q11.1-12		 uncertain significance
NM_016571.3(LGSN):c.92C>G (p.Thr31Arg) single nucleotide variant not specified [RCV004941769] Chr6:63294984 [GRCh38]
Chr6:64004889 [GRCh37]
Chr6:6q12		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1852
Count of miRNA genes:942
Interacting mature miRNAs:1116
Transcripts:ENST00000370657, ENST00000370658, ENST00000485906
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597601118GWAS1657978_Hbody mass index QTL GWAS1657978 (human)4e-12body mass indexbody mass index (BMI) (CMO:0000105)66350624463506245Human
597405023GWAS1501097_Hschizophrenia QTL GWAS1501097 (human)3e-08schizophrenia66341627563416276Human
1298452OSTEAR16_HOsteoarthritis QTL 16 (human)1.850.0016Joint/bone inflammationhip osteoarthritis65725907283259072Human
597431382GWAS1527456_Htestosterone measurement QTL GWAS1527456 (human)6e-10testosterone measurementserum testosterone level (CMO:0000568)66356088563560886Human
597381332GWAS1477406_Htype 2 diabetes mellitus QTL GWAS1477406 (human)4e-08type 2 diabetes mellitus66345390263453903Human
597389067GWAS1485141_Hsusceptibility to Mycobacterium tuberculosis infection measurement QTL GWAS1485141 (human)0.0000007susceptibility to Mycobacterium tuberculosis infection measurement66341100063411001Human
597515086GWAS1611160_Hbody mass index QTL GWAS1611160 (human)2e-16body mass indexbody mass index (BMI) (CMO:0000105)66345182863451829Human
597601545GWAS1658405_Hbody mass index QTL GWAS1658405 (human)4e-11body mass indexbody mass index (BMI) (CMO:0000105)66350624463506245Human
597403584GWAS1499658_Hschizophrenia QTL GWAS1499658 (human)0.000004schizophrenia66341627563416276Human
597496386GWAS1592460_Hbody mass index QTL GWAS1592460 (human)6e-10body mass indexbody mass index (BMI) (CMO:0000105)66353061163530612Human
597442429GWAS1538503_Hbody mass index QTL GWAS1538503 (human)3e-09body mass indexbody mass index (BMI) (CMO:0000105)66353061163530612Human
597530297GWAS1626371_Hbody mass index QTL GWAS1626371 (human)4e-09body mass indexbody mass index (BMI) (CMO:0000105)66353786863537869Human
407378017GWAS1026993_Hgut microbiome measurement QTL GWAS1026993 (human)0.000005gut microbiome measurement66332314363323144Human
597464631GWAS1560705_Hbody mass index QTL GWAS1560705 (human)3e-10body mass indexbody mass index (BMI) (CMO:0000105)66353061163530612Human
596958968GWAS1078487_Hmetabolic syndrome QTL GWAS1078487 (human)3e-12metabolic syndrome66352950063529501Human
597066424GWAS1162498_Hsusceptibility to Mycobacterium tuberculosis infection measurement QTL GWAS1162498 (human)0.0000001susceptibility to Mycobacterium tuberculosis infection measurement66328074363280744Human
597385781GWAS1481855_Hrespiratory system disease QTL GWAS1481855 (human)2e-08respiratory system disease66350057863500579Human
596989435GWAS1108954_Hbody mass index QTL GWAS1108954 (human)3e-09body mass index66353061163530612Human
597485043GWAS1581117_Hbody mass index QTL GWAS1581117 (human)3e-08body mass indexbody mass index (BMI) (CMO:0000105)66347505963475060Human
597462195GWAS1558269_Hbody mass index QTL GWAS1558269 (human)1e-09body mass indexbody mass index (BMI) (CMO:0000105)66348037363480374Human
597601903GWAS1658763_Htype 2 diabetes mellitus QTL GWAS1658763 (human)4e-09type 2 diabetes mellitus66348167363481674Human
597414831GWAS1510905_HAbnormality of chromosome segregation QTL GWAS1510905 (human)0.000002Abnormality of chromosome segregation66354371763543718Human
597529320GWAS1625394_Hasthma QTL GWAS1625394 (human)3e-08asthma66346576363465764Human
597613480GWAS1670340_Hautoimmune disorder of musculoskeletal system QTL GWAS1670340 (human)7e-12autoimmune disorder of musculoskeletal system66345494963454950Human
597413612GWAS1509686_Hmetabolic syndrome QTL GWAS1509686 (human)3e-12metabolic syndrome66352950063529501Human
597493095GWAS1589169_Hbreast density QTL GWAS1589169 (human)0.000007breast density66349416963494170Human
597374688GWAS1470762_Hbody mass index QTL GWAS1470762 (human)6e-10body mass indexbody mass index (BMI) (CMO:0000105)66348037363480374Human
596957480GWAS1076999_Hthyroid stimulating hormone measurement QTL GWAS1076999 (human)1e-10thyroid stimulating hormone measurement66342995163429952Human

Markers in Region
GLULD1__6814  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37663,989,454 - 63,990,277UniSTSGRCh37
Build 36664,047,413 - 64,048,236RGDNCBI36
Celera662,148,918 - 62,149,741RGD
HuRef661,169,401 - 61,170,224UniSTS
G35510  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6pter-q22.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map11q14.2-q21UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map9p21.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31-q32UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map18p11.22-p11.21UniSTS
Cytogenetic Map5q34-q35UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic MapXp22.32UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map20q13.33UniSTS
L17702  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map6pter-q22.33UniSTS
Cytogenetic Map2q33.2UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
333 1276 742 492 2456 1100 1716 4 528 1243 423 640 3668 2464 21 1918 561 1120 1087 109 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001143940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF242388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL135905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL390854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL450346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ682605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ682606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA988625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA988626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA988627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA988628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000370657   ⟹   ENSP00000359691
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl663,275,951 - 63,319,983 (-)Ensembl
Ensembl Acc Id: ENST00000370658   ⟹   ENSP00000359692
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl663,275,951 - 63,319,977 (-)Ensembl
Ensembl Acc Id: ENST00000485906   ⟹   ENSP00000431246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl663,279,383 - 63,319,977 (-)Ensembl
Ensembl Acc Id: ENST00000622415   ⟹   ENSP00000479173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl663,280,021 - 63,319,943 (-)Ensembl
RefSeq Acc Id: NM_001143940   ⟹   NP_001137412
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38663,275,951 - 63,319,983 (-)NCBI
GRCh37663,985,856 - 64,029,882 (-)RGD
Celera662,145,321 - 62,189,340 (-)RGD
HuRef661,165,803 - 61,209,830 (-)ENTREZGENE
CHM1_1664,152,120 - 64,196,163 (-)NCBI
T2T-CHM13v2.0664,421,831 - 64,465,888 (-)NCBI
Sequence:
RefSeq Acc Id: NM_016571   ⟹   NP_057655
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38663,275,951 - 63,319,983 (-)NCBI
GRCh37663,985,856 - 64,029,882 (-)RGD
Build 36664,047,515 - 64,087,841 (-)NCBI Archive
Celera662,145,321 - 62,189,340 (-)RGD
HuRef661,165,803 - 61,209,830 (-)ENTREZGENE
CHM1_1664,152,120 - 64,196,163 (-)NCBI
T2T-CHM13v2.0664,421,831 - 64,465,888 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011535892   ⟹   XP_011534194
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38663,275,951 - 63,442,349 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017010930   ⟹   XP_016866419
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38663,275,951 - 63,442,349 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047418866   ⟹   XP_047274822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38663,275,951 - 63,573,607 (-)NCBI
RefSeq Acc Id: XM_054355587   ⟹   XP_054211562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0664,421,831 - 64,465,888 (-)NCBI
RefSeq Acc Id: XM_054355588   ⟹   XP_054211563
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0664,421,831 - 64,587,656 (-)NCBI
RefSeq Acc Id: XM_054355589   ⟹   XP_054211564
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0664,421,831 - 64,588,322 (-)NCBI
RefSeq Acc Id: XM_054355590   ⟹   XP_054211565
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0664,421,831 - 64,578,403 (-)NCBI
RefSeq Acc Id: XM_054355591   ⟹   XP_054211566
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0664,421,831 - 64,479,048 (-)NCBI
RefSeq Acc Id: NP_057655   ⟸   NM_016571
- Peptide Label: isoform a
- UniProtKB: Q0PVP0 (UniProtKB/Swiss-Prot),   Q0PVN9 (UniProtKB/Swiss-Prot),   A1L421 (UniProtKB/Swiss-Prot),   Q9NYJ0 (UniProtKB/Swiss-Prot),   Q5TDP6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001137412   ⟸   NM_001143940
- Peptide Label: isoform b
- UniProtKB: A0A0A0MTD2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011534194   ⟸   XM_011535892
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016866419   ⟸   XM_017010930
- Peptide Label: isoform X2
- Sequence:
Ensembl Acc Id: ENSP00000359691   ⟸   ENST00000370657
Ensembl Acc Id: ENSP00000359692   ⟸   ENST00000370658
Ensembl Acc Id: ENSP00000479173   ⟸   ENST00000622415
Ensembl Acc Id: ENSP00000431246   ⟸   ENST00000485906
RefSeq Acc Id: XP_047274822   ⟸   XM_047418866
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054211564   ⟸   XM_054355589
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054211563   ⟸   XM_054355588
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054211565   ⟸   XM_054355590
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054211566   ⟸   XM_054355591
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054211562   ⟸   XM_054355587
- Peptide Label: isoform X3
Protein Domains
GS beta-grasp   GS catalytic

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5TDP6-F1-model_v2 AlphaFold Q5TDP6 1-509 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21016 AgrOrtholog
COSMIC LGSN COSMIC
Ensembl Genes ENSG00000146166 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000370657 ENTREZGENE
  ENST00000370657.9 UniProtKB/Swiss-Prot
  ENST00000370658 ENTREZGENE
  ENST00000370658.9 UniProtKB/Swiss-Prot
  ENST00000485906.6 UniProtKB/TrEMBL
  ENST00000622415.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.10.20.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glutamine synthetase/guanido kinase, catalytic domain UniProtKB/Swiss-Prot
GTEx ENSG00000146166 GTEx
HGNC ID HGNC:21016 ENTREZGENE
Human Proteome Map LGSN Human Proteome Map
InterPro Gln_synt_N UniProtKB/Swiss-Prot
  Gln_synt_N UniProtKB/Swiss-Prot
  Gln_synt_N UniProtKB/TrEMBL
  Gln_synt_N UniProtKB/TrEMBL
  Gln_synth/guanido_kin_cat_dom UniProtKB/Swiss-Prot
  Gln_synth_cat_dom UniProtKB/Swiss-Prot
KEGG Report hsa:51557 UniProtKB/Swiss-Prot
NCBI Gene 51557 ENTREZGENE
OMIM 611470 OMIM
PANTHER GLUTAMINE SYNTHETASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LENGSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Gln-synt_C UniProtKB/Swiss-Prot
PharmGKB PA164722103 PharmGKB
PROSITE GS_BETA_GRASP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GS_CATALYTIC UniProtKB/Swiss-Prot
SMART Gln-synt_C UniProtKB/Swiss-Prot
Superfamily-SCOP SSF54368 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55931 UniProtKB/Swiss-Prot
UniProt A0A0A0MTD2 ENTREZGENE, UniProtKB/TrEMBL
  A1L421 ENTREZGENE
  LGSN_HUMAN UniProtKB/Swiss-Prot
  Q0PVN9 ENTREZGENE
  Q0PVP0 ENTREZGENE
  Q5TDP6 ENTREZGENE
  Q9NYJ0 ENTREZGENE
UniProt Secondary A1L421 UniProtKB/Swiss-Prot
  Q0PVN9 UniProtKB/Swiss-Prot
  Q0PVP0 UniProtKB/Swiss-Prot
  Q9NYJ0 UniProtKB/Swiss-Prot