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 NHP2L1
Gene summary
Basic gene Info.Gene symbolNHP2L1
Gene nameNHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)
Synonyms15.5K|FA-1|FA1|NHPX|OTK27|SNRNP15-5|SNU13|SPAG12|SSFA1
CytomapUCSC genome browser: 22q13
Type of geneprotein-coding
RefGenesNM_001003796.1,
NM_005008.3,
DescriptionNHP2-like protein 1U4/U6.U5 tri-snRNP 15.5 kDa protein[U4/U6.U5] tri-snRNP 15.5 kD RNA binding proteinhigh mobility group-like nuclear protein 2 homolog 1non-histone chromosome protein 2-like 1small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5)sperm
Modification date20141207
dbXrefs MIM : 601304
HGNC : HGNC
Ensembl : ENSG00000100138
HPRD : 03197
Vega : OTTHUMG00000151189
ProteinUniProt: P55769
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_NHP2L1
BioGPS: 4809
PathwayNCI Pathway Interaction Database: NHP2L1
KEGG: NHP2L1
REACTOME: NHP2L1
Pathway Commons: NHP2L1
ContextiHOP: NHP2L1
ligand binding site mutation search in PubMed: NHP2L1
UCL Cancer Institute: NHP2L1
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 NHP2L1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
K86R84CGBM2
V95V95IKIRC1
E124E124KLUAD1
K86A88VSKCM1
R48I50TUCEC1
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 NHP2L1
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
R48I50T-1.5219163
K86A88V-0.94438252
E124E124K-0.75136208
K86R84C-0.74657939
V95V95I-0.45120862
(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 NHP2L1 from PDB
PDB IDPDB titlePDB structure
2JNBSolution Structure of RNA-binding protein 15.5K

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Differential gene expression and gene-gene network for NHP2L1
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 NHP2L1 and the right PPI network was created from samples without mutations in the LBS of NHP2L1. 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 NHP2L1
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 NHP2L1
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ExperimentalDB02494Alpha-Hydroxy-Beta-Phenyl-Propionic AcidSmall molecule
ExperimentalDB07374AnisomycinSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of NHP2L1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
CACALCIUM(2+)2ozbAE124
NUCNucleic Acids3siuAK86 V95
NUCNucleic Acids3sivAK86 V95
NUCNucleic Acids3sivDK86 V95
NUCNucleic Acids3sivGK86 V95
NUCNucleic Acids3sivJK86 V95
NUCNucleic Acids3sivAR48
NUCNucleic Acids3sivDR48
NUCNucleic Acids3sivGR48
NUCNucleic Acids3sivJR48
NUCNucleic Acids1e7kBR48 K86
NUCNucleic Acids1e7kAR48 K86 V95
NUCNucleic Acids2ozbAR48 K86 V95
NUCNucleic Acids2ozbDR48 K86 V95
NUCNucleic Acids3siuDR48 K86 V95


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Conservation information for LBS of NHP2L1
Multiple alignments for P55769 in multiple species
LBSAA sequence# speciesSpecies
A39QLRKGANEATK7Homo sapiens, Drosophila melanogaster, Bos taurus, Mus musculus, Rattus norvegicus, Xenopus tropicalis, Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A39QLKKGANEATK4Caenorhabditis elegans, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
A60VMAADAEPLEI6Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Xenopus tropicalis, Caenorhabditis elegans
A60IMAADCEPIEI3Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
A60VLAGDAEPIEI1Drosophila melanogaster
A60VMAADTEPIEI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E124IQQSIERLLV4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
E124VKDKIETLLI3Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
E124IQQEIERLLV1Drosophila melanogaster
E124LQQSIERLLV1Xenopus tropicalis
E124IKEDVEKLLI1Caenorhabditis elegans
E124IKLAIEKLLI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E41RKGANEATKTL7Homo sapiens, Drosophila melanogaster, Bos taurus, Mus musculus, Rattus norvegicus, Xenopus tropicalis, Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E41KKGANEATKTL4Caenorhabditis elegans, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
E61MAADAEPLEII5Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Xenopus tropicalis
E61MAADCEPIEIL3Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
E61LAGDAEPIEIL1Drosophila melanogaster
E61MAADAEPLEIL1Caenorhabditis elegans
E61MAADTEPIEIL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G38KQLRKGANEAT6Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Xenopus tropicalis, Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G38RQLKKGANEAT3Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
G38NQLRKGANEAT1Drosophila melanogaster
G38KQLKKGANEAT1Caenorhabditis elegans
I100VSRPVIACSVT4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
I100VSRPVIAASIT3Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
I100VSRPIVACSVT1Drosophila melanogaster
I100VSRPVIACAVT1Xenopus tropicalis
I100VTRPVIAASIT1Caenorhabditis elegans
I100VSRPVISASIT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I65AEPLEIILHLP5Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Xenopus tropicalis
I65CEPIEILLHLP3Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
I65AEPIEILLHLP1Drosophila melanogaster
I65AEPLEILLHLP1Caenorhabditis elegans
I65TEPIEILLHLP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K37YKQLRKGANEA6Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Xenopus tropicalis, Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K37MRQLKKGANEA2Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
K37YNQLRKGANEA1Drosophila melanogaster
K37YKQLKKGANEA1Caenorhabditis elegans
K37LRQLKKGANEA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K44ANEATKTLNRG11Homo sapiens, Drosophila melanogaster, Bos taurus, Mus musculus, Rattus norvegicus, Xenopus tropicalis, Caenorhabditis elegans, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lacti
K86VFVRSKQALGR6Homo sapiens, Drosophila melanogaster, Bos taurus, Mus musculus, Rattus norvegicus, Xenopus tropicalis
K86VFVPSRVALGR2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
K86VFVRSKAALGR1Caenorhabditis elegans
K86VFVPSKAALGR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K86VFVPSRTALGR1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
N40LRKGANEATKT7Homo sapiens, Drosophila melanogaster, Bos taurus, Mus musculus, Rattus norvegicus, Xenopus tropicalis, Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N40LKKGANEATKT4Caenorhabditis elegans, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
N77LCEDKNVPYVF11Homo sapiens, Drosophila melanogaster, Bos taurus, Mus musculus, Rattus norvegicus, Xenopus tropicalis, Caenorhabditis elegans, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lacti
P98CGVSRPVIACS4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
P98CGVSRPVIAAS3Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
P98CGVSRPIVACS1Drosophila melanogaster
P98CGVSRPVIACA1Xenopus tropicalis
P98CGVTRPVIAAS1Caenorhabditis elegans
P98CGVSRPVISAS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R36NYKQLRKGANE5Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Xenopus tropicalis
R36NMRQLKKGANE2Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
R36NYNQLRKGANE1Drosophila melanogaster
R36NYKQLKKGANE1Caenorhabditis elegans
R36HYKQLRKGANE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R36NLRQLKKGANE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R48TKTLNRGISEF8Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140
R48TKTLNRGLADI1Drosophila melanogaster
R48TKTLNRGIAEF1Xenopus tropicalis
R48TKTLNRGISEI1Caenorhabditis elegans
R97ACGVSRPVIAC5Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Xenopus tropicalis
R97ACGVSRPVIAA3Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
R97ACGVSRPIVAC1Drosophila melanogaster
R97ACGVTRPVIAA1Caenorhabditis elegans
R97ACGVSRPVISA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S96RACGVSRPVIA8Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Xenopus tropicalis, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain
S96RACGVSRPIVA1Drosophila melanogaster
S96RACGVTRPVIA1Caenorhabditis elegans
S96RACGVSRPVIS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V95GRACGVSRPVI9Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Xenopus tropicalis, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC
V95GRACGVSRPIV1Drosophila melanogaster
V95GRACGVTRPVI1Caenorhabditis elegans
V99GVSRPVIACSV4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
V99GVSRPVIAASI3Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
V99GVSRPIVACSV1Drosophila melanogaster
V99GVSRPVIACAV1Xenopus tropicalis
V99GVTRPVIAASI1Caenorhabditis elegans
V99GVSRPVISASI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)


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