mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for NMRAL1
Gene summary
Basic gene Info.Gene symbolNMRAL1
Gene nameNmrA-like family domain containing 1
SynonymsHSCARG|SDR48A1
CytomapUCSC genome browser: 16p13.3
Type of geneprotein-coding
RefGenesNM_020677.3,
DescriptionnmrA-like family domain-containing protein 1short chain dehydrogenase/reductase family 48A, member 1
Modification date20141222
dbXrefs HGNC : HGNC
Ensembl : ENSG00000153406
HPRD : 13678
Vega : OTTHUMG00000129468
ProteinUniProt: Q9HBL8
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_NMRAL1
BioGPS: 57407
PathwayNCI Pathway Interaction Database: NMRAL1
KEGG: NMRAL1
REACTOME: NMRAL1
Pathway Commons: NMRAL1
ContextiHOP: NMRAL1
ligand binding site mutation search in PubMed: NMRAL1
UCL Cancer Institute: NMRAL1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


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Ligand binding site mutations for NMRAL1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
Q93K95ESTAD1
Y246E247KUCEC1
Y246Y246HUCEC1
D269D269NUCEC1
Q16Q16HUCEC1
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.


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Protein structure related information for NMRAL1
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
Q93K95E0.074416582
D269D269N-1.0379705
Y246E247K-0.93642708
Y246Y246H-0.91013178
Q16Q16H-0.64130143
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for NMRAL1 from PDB

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Differential gene expression and gene-gene network for NMRAL1
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of NMRAL1 and the right PPI network was created from samples without mutations in the LBS of NMRAL1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for NMRAL1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for NMRAL1

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ExperimentalDB087842-(4-CHLORO-PHENYLAMINO)-NICOTINIC ACIDSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of NMRAL1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
NFL2-[(3-TRIFLUOROMETHYL)PHENYL]AMINO-3-PYRIDINE-CARBOXYLIC ACID2wm3AD269
NAPNADP ZWITTERION2exxAQ16
NAPNADP ZWITTERION2wm3AQ16 Q93
NAPNADP ZWITTERION2wmdAQ16 Q93
ZZ02-(4-CHLORO-PHENYLAMINO)-NICOTINIC ACID2wmdAY246


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Conservation information for LBS of NMRAL1
Multiple alignments for Q9HBL8 in multiple species
LBSAA sequence# speciesSpecies
A15FGATGAQGGSV3Gallus gallus, Bos taurus, Mus musculus
A15FGGTGAQGGSV1Homo sapiens
C154SVRLPCYFENL3Homo sapiens, Bos taurus, Mus musculus
C154TIRLPFYYENF1Gallus gallus
D269YALRPDRDIEL1Homo sapiens
D269YALKPDRNVEL1Gallus gallus
D269YALKPDRNIEL1Bos taurus
D269YTLKPDRNIHL1Mus musculus
D58EVVQGDQDDQV1Homo sapiens
D58ELMRADQDDER1Gallus gallus
D58EVVQGDQDDEA1Bos taurus
D58EVVRGDQDDAA1Mus musculus
E90CSQEQEV----2Homo sapiens, Bos taurus
E90CSKEKEV----1Gallus gallus
E90CSQDREVQQPH1Mus musculus
F163NLLSYFLPQKA2Bos taurus, Mus musculus
F163NLLSHFLPQKA1Homo sapiens
F163NFLSSFKPQKA1Gallus gallus
F263ANMFRFYALRP1Homo sapiens
F263ADMFRFYALKP1Gallus gallus
F263ANMFRFYALKP1Bos taurus
F263ANMFRFYTLKP1Mus musculus
G11LVVVFGATGAQ2Bos taurus, Mus musculus
G11LVVVFGGTGAQ1Homo sapiens
G11LIVVFGATGAQ1Gallus gallus
G14VFGATGAQGGS3Gallus gallus, Bos taurus, Mus musculus
G14VFGGTGAQGGS1Homo sapiens
G57AEVVQGDQDDQ1Homo sapiens
G57AELMRADQDDE1Gallus gallus
G57AEVVQGDQDDE1Bos taurus
G57AEVVRGDQDDA1Mus musculus
H129RLAAAHFDGKG1Homo sapiens
H129RLEVLHFDGKG1Gallus gallus
H129RLTVGHFDGKG1Bos taurus
H129KLAAGHFDGKG1Mus musculus
H162ENLLSYFLPQK2Bos taurus, Mus musculus
H162ENLLSHFLPQK1Homo sapiens
H162ENFLSSFKPQK1Gallus gallus
K133GHFDGKGEVEE2Bos taurus, Mus musculus
K133AHFDGKGEVEE1Homo sapiens
K133LHFDGKGEVEE1Gallus gallus
K41TRNPRKKAAKE1Homo sapiens
K41TRSPGRKEAAE1Gallus gallus
K41TRDPGQRAAKQ1Bos taurus
K41TRNPEQRAAKE1Mus musculus
K92-----KQGKLL2Homo sapiens, Bos taurus
K92-----AQGRRL1Gallus gallus
K92WDQVFKQGKLL1Mus musculus
L114VVYSGLENIKK2Homo sapiens, Bos taurus
L114VVYSGLENVKQ1Gallus gallus
L114VVYSGLENIRK1Mus musculus
L120ENIKKLTAGRL2Homo sapiens, Bos taurus
L120ENVKQLTKGRL1Gallus gallus
L120ENIRKLTAGKL1Mus musculus
L152MTSVRLPCYFE3Homo sapiens, Bos taurus, Mus musculus
L152TTTIRLPFYYE1Gallus gallus
L257PGARDLANMFR1Homo sapiens
L257PGAKELADMFR1Gallus gallus
L257PGAQDLANMFR1Bos taurus
L257QGAQDLANMFR1Mus musculus
L266FRFYALKPDRN2Gallus gallus, Bos taurus
L266FRFYALRPDRD1Homo sapiens
L266FRFYTLKPDRN1Mus musculus
M260RDLANMFRFYA1Homo sapiens
M260KELADMFRFYA1Gallus gallus
M260QDLANMFRFYA1Bos taurus
M260QDLANMFRFYT1Mus musculus
N158PCYFENLLSYF2Bos taurus, Mus musculus
N158PCYFENLLSHF1Homo sapiens
N158PFYYENFLSSF1Gallus gallus
N80TFIVTNYWESC1Homo sapiens
N80AFVVTNFWEHC1Gallus gallus
N80TFIVTNYWENC1Bos taurus
N80TFIVTNYWETC1Mus musculus
P153TSVRLPCYFEN3Homo sapiens, Bos taurus, Mus musculus
P153TTIRLPFYYEN1Gallus gallus
Q16GATGAQGGSVA3Gallus gallus, Bos taurus, Mus musculus
Q16GGTGAQGGSVA1Homo sapiens
Q59VVQGDQDDQVI1Homo sapiens
Q59LMRADQDDERS1Gallus gallus
Q59VVQGDQDDEAS1Bos taurus
Q59VVRGDQDDAAS1Mus musculus
Q62GDQDDQVIMEL1Homo sapiens
Q62ADQDDERSLEE1Gallus gallus
Q62GDQDDEASMEL1Bos taurus
Q62GDQDDAASMEL1Mus musculus
Q93----KQGKLLA2Homo sapiens, Bos taurus
Q93----AQGRRLA1Gallus gallus
Q93DQVFKQGKLLA1Mus musculus
R151PMTSVRLPCYF3Homo sapiens, Bos taurus, Mus musculus
R151PTTTIRLPFYY1Gallus gallus
R37VRVVTRNPRKK1Homo sapiens
R37VRAVTRSPGRK1Gallus gallus
R37VRVVTRDPGQR1Bos taurus
R37IRVVTRNPEQR1Mus musculus
T13VVFGATGAQGG3Gallus gallus, Bos taurus, Mus musculus
T13VVFGGTGAQGG1Homo sapiens
T36KVRVVTRNPRK1Homo sapiens
T36AVRAVTRSPGR1Gallus gallus
T36RVRVVTRDPGQ1Bos taurus
T36RIRVVTRNPEQ1Mus musculus
T79ATFIVTNYWES1Homo sapiens
T79GAFVVTNFWEH1Gallus gallus
T79ATFIVTNYWEN1Bos taurus
T79ATFIVTNYWET1Mus musculus
W82IVTNYWESCSQ1Homo sapiens
W82VVTNFWEHCSK1Gallus gallus
W82IVTNYWENCSQ1Bos taurus
W82IVTNYWETCSQ1Mus musculus
Y155VRLPCYFENLL3Homo sapiens, Bos taurus, Mus musculus
Y155IRLPFYYENFL1Gallus gallus
Y246MTPEDYEKLGF1Homo sapiens
Y246ITPEEYEKLGF1Gallus gallus
Y246TSPEDYEKLGF1Bos taurus
Y246TTPEDYEKLGF1Mus musculus
Y264NMFRFYALRPD1Homo sapiens
Y264DMFRFYALKPD1Gallus gallus
Y264NMFRFYALKPD1Bos taurus
Y264NMFRFYTLKPD1Mus musculus
Y81FIVTNYWESCS1Homo sapiens
Y81FVVTNFWEHCS1Gallus gallus
Y81FIVTNYWENCS1Bos taurus
Y81FIVTNYWETCS1Mus musculus


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