mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 HMBS
Gene summary
Basic gene Info.Gene symbolHMBS
Gene namehydroxymethylbilane synthase
SynonymsPBG-D|PBGD|PORC|UPS
CytomapUCSC genome browser: 11q23.3
Type of geneprotein-coding
RefGenesNM_000190.3,
NM_001024382.1,NM_001258208.1,NM_001258209.1,
Descriptionporphobilinogen deaminaseporphyria, acute; Chester typepre-uroporphyrinogen synthaseuroporphyrinogen I synthaseuroporphyrinogen I synthetase
Modification date20141219
dbXrefs MIM : 609806
HGNC : HGNC
Ensembl : ENSG00000256269
HPRD : 01440
Vega : OTTHUMG00000168295
ProteinUniProt: P08397
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_HMBS
BioGPS: 3145
PathwayNCI Pathway Interaction Database: HMBS
KEGG: HMBS
REACTOME: HMBS
Pathway Commons: HMBS
ContextiHOP: HMBS
ligand binding site mutation search in PubMed: HMBS
UCL Cancer Institute: HMBS
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 HMBS

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
H268V267MCOAD1
A214Y213HCOAD1
A31R32HCOAD1
H207I205SGBM1
H120A122TLUAD1
A214Y213HUCEC1
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 HMBS
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
A31R32H-1.6096719
H207I205S-1.2204947
H120A122T-1.0596135
A214Y213H-0.93153784
H268V267M-0.88328524
(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 HMBS from PDB

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Differential gene expression and gene-gene network for HMBS
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 HMBS and the right PPI network was created from samples without mutations in the LBS of HMBS. 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 HMBS
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0162565Porphyria, Acute Intermittent143AlteredExpression, Biomarker, GeneticVariation

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

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Pharmacological information for HMBS
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of HMBS go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
DPMDIPYRROMETHANE COFACTOR3eq1AA214
SO4SULFATE3eq1AA31
SO4SULFATE3eq1BH120 H207 H268
SO4SULFATE3eq1AH120 H268


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Conservation information for LBS of HMBS
Multiple alignments for P08397 in multiple species
LBSAA sequence# speciesSpecies
A189SAIILATAGLQ2Homo sapiens, Bos taurus
A189QATLLALAGLK1Arabidopsis thaliana
A189HATLLALAGLK1Oryza sativa subsp. japonica
A189KCIILATAGLV1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
A189KCIVLASAGLM1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
A189QCIILASAGLM1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A189DCLVLAAAGLF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A189SAIVLAVAGLQ1Mus musculus
A214EECMYAVGQGA3Homo sapiens, Mus musculus, Bos taurus
A214DEMLPAVAQGA2Arabidopsis thaliana, Oryza sativa subsp. japonica
A214TIMLHAVGQGA1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
A214DTMCYAVGQGA1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
A214DTMYHAVGQGA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A214PFVYYAVGQGA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A31RKSQLARIQTD3Homo sapiens, Mus musculus, Bos taurus
A31RGSPLALAQAY1Arabidopsis thaliana
A31RGSPLALAQAH1Oryza sativa subsp. japonica
A31RRSKLAVIQSE1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
A31RRSKLAVVQSE1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
A31RKSKLAVIQSN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A31RKSKLAVIQSE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C261HLEGGCSVPVA3Homo sapiens, Mus musculus, Bos taurus
C261TLEGGCSVPIG3Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C261TLDGSCRTPIA1Arabidopsis thaliana
C261VLDGNCRTPIA1Oryza sativa subsp. japonica
C261RLQGGCAIPIG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D99VHSLKDLPTVL2Homo sapiens, Bos taurus
D99VHSMKDVPTYL2Arabidopsis thaliana, Oryza sativa subsp. japonica
D99VHSLKDMPTLL2Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D99VHSLKDMPTQL1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
D99VHSLKDLPSEM1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D99VHSLKDVPTIL1Mus musculus
G218YAVGQGALGVE2Homo sapiens, Bos taurus
G218PAVAQGAIGIA2Arabidopsis thaliana, Oryza sativa subsp. japonica
G218HAVGQGALGIE2Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G218YAVGQGALAVE2Schizosaccharomyces pombe (strain 972 / ATCC 24843), Mus musculus
G218YAVGQGALGIE1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
H120PREDVRDAFIC2Arabidopsis thaliana, Oryza sativa subsp. japonica
H120KRENPHDAVVF1Homo sapiens
H120KRVDPSDCLVM1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
H120KRVDPTDALVM1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
H120KRVDPTDCLVM1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H120KRSCPLDAIVF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H120KRENPCDAVVF1Mus musculus
H120KRESPYDAVVF1Bos taurus
H207VGQILHPEECM3Homo sapiens, Mus musculus, Bos taurus
H207VASILSLDEML1Arabidopsis thaliana
H207ATSVLSVDEML1Oryza sativa subsp. japonica
H207ITQRFDSTIML1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
H207ITQRFNADTMC1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
H207ITQRFHSDTMY1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H207IAQMLTAPFVY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H268VPVAVHTAM--1Homo sapiens
H268TPIAGYASK--1Arabidopsis thaliana
H268TPIAAYASR--1Oryza sativa subsp. japonica
H268VPIGVYSTF--1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
H268VPIGVVSNY--1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
H268VPIGVESKY--1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H268IPIGVQTDVLA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H268VPVAVHTVM--1Mus musculus
H268VPVAVHTAI--1Bos taurus
K98VVHSLKDLPTV2Homo sapiens, Bos taurus
K98AVHSMKDVPTY2Arabidopsis thaliana, Oryza sativa subsp. japonica
K98IVHSLKDMPTL2Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K98IVHSLKDMPTQ1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
K98LVHSLKDLPSE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K98VVHSLKDVPTI1Mus musculus
L188FSAIILATAGL2Homo sapiens, Bos taurus
L188VQATLLALAGL1Arabidopsis thaliana
L188VHATLLALAGL1Oryza sativa subsp. japonica
L188CKCIILATAGL1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
L188YKCIVLASAGL1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
L188YQCIILASAGL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L188FDCLVLAAAGL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L188FSAIVLAVAGL1Mus musculus
L30TRKSQLARIQT3Homo sapiens, Mus musculus, Bos taurus
L30TRGSPLALAQA2Arabidopsis thaliana, Oryza sativa subsp. japonica
L30GRRSKLAVIQS1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
L30GRRSKLAVVQS1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
L30GRKSKLAVIQS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L30TRKSKLAVIQS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N169KSIRGNLNTRL2Mus musculus, Bos taurus
N169RSIRGNLNTRL1Homo sapiens
N169ENFRGNVQTRL1Arabidopsis thaliana
N169VNFRGNVQTRL1Oryza sativa subsp. japonica
N169ASVRGNIQTRL1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
N169ESIRGNIQTRL1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
N169ESVRGNIQTRL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N169VDIRGNVGTRL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
P208GQILHPEECMY3Homo sapiens, Mus musculus, Bos taurus
P208ASILSLDEMLP1Arabidopsis thaliana
P208TSVLSVDEMLP1Oryza sativa subsp. japonica
P208TQRFDSTIMLH1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
P208TQRFNADTMCY1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
P208TQRFHSDTMYH1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
P208AQMLTAPFVYY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q217MYAVGQGALGV2Homo sapiens, Bos taurus
Q217LPAVAQGAIGI2Arabidopsis thaliana, Oryza sativa subsp. japonica
Q217LHAVGQGALGI1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
Q217CYAVGQGALGI1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
Q217YHAVGQGALGI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q217YYAVGQGALAV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q217MYAVGQGALAV1Mus musculus
R149GTSSLRRAAQL2Homo sapiens, Bos taurus
R149GTSSVRRSAQL2Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R149GTASLRRKSQI1Arabidopsis thaliana
R149GSASLRRQSQI1Oryza sativa subsp. japonica
R149GTSSIRRSAQL1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
R149GTSSIRRRALL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R149GTSSLRRVAQL1Mus musculus
R150TSSLRRAAQLQ2Homo sapiens, Bos taurus
R150TSSVRRSAQLK2Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R150TASLRRKSQIL1Arabidopsis thaliana
R150SASLRRQSQIL1Oryza sativa subsp. japonica
R150TSSIRRSAQLR1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
R150TSSIRRRALLA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R150TSSLRRVAQLQ1Mus musculus
R173GNLNTRLRKLD3Homo sapiens, Mus musculus, Bos taurus
R173GNVQTRLSKLQ1Arabidopsis thaliana
R173GNVQTRLRKLK1Oryza sativa subsp. japonica
R173GNIQTRLKKLD1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
R173GNIQTRLAKLD1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
R173GNIQTRLQKLD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R173GNVGTRLAKLD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R195TAGLQRMGWHN1Homo sapiens
R195LAGLKRLSMTE1Arabidopsis thaliana
R195LAGLKRLNMAE1Oryza sativa subsp. japonica
R195TAGLVRLGLES1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
R195SAGLMRSGLDS1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
R195SAGLMRMGLEN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R195AAGLFRLGLKD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R195VAGLQRMGWQN1Mus musculus
R195TAGLQRMGWQN1Bos taurus
R26IRVGTRKSQLA3Homo sapiens, Mus musculus, Bos taurus
R26IRIGTRGSPLA2Arabidopsis thaliana, Oryza sativa subsp. japonica
R26LRIAGRRSKLA1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
R26VRIGGRRSKLA1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
R26LHIGGRKSKLA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R26FPIGTRKSKLA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S146SVVGTSSLRRA2Homo sapiens, Bos taurus
S146SVVGTASLRRK1Arabidopsis thaliana
S146SVVGSASLRRQ1Oryza sativa subsp. japonica
S146SVVGTSSIRRS1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
S146SVVGTSSVRRS1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
S146GIVGTSSVRRS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S146SVVGTSSIRRR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S146SAVGTSSLRRV1Mus musculus
S147VVGTSSLRRAA2Homo sapiens, Bos taurus
S147VVGTASLRRKS1Arabidopsis thaliana
S147VVGSASLRRQS1Oryza sativa subsp. japonica
S147VVGTSSIRRSA1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
S147VVGTSSVRRSA1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
S147IVGTSSVRRSA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S147VVGTSSIRRRA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S147AVGTSSLRRVA1Mus musculus
S28VGTRKSQLARI3Homo sapiens, Mus musculus, Bos taurus
S28IGTRGSPLALA2Arabidopsis thaliana, Oryza sativa subsp. japonica
S28IAGRRSKLAVI1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
S28IGGRRSKLAVV1Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
S28IGGRKSKLAVI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S28IGTRKSKLAVI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S96DLVVHSLKDLP2Homo sapiens, Bos taurus
S96DIAVHSMKDVP2Arabidopsis thaliana, Oryza sativa subsp. japonica
S96DLIVHSLKDMP2Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S96DMIVHSLKDMP1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
S96RILVHSLKDLP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S96DLVVHSLKDVP1Mus musculus


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