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Gene-Chemical Interaction AnnotationsGene-Chemical Interaction Annotations
Gene-Chemical Interaction AnnotationsTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | 1,2,4-trimethylbenzene | decreases expression | EXP | | 6480464 | pseudocumene results in decreased expression of HMBS protein | CTD | PMID:17337753 | 17alpha-ethynylestradiol | increases expression | ISO | RGD:733096 | 6480464 | Ethinyl Estradiol results in increased expression of HMBS mRNA | CTD | PMID:17942748 | 17alpha-ethynylestradiol | increases expression | EXP | | 6480464 | Ethinyl Estradiol results in increased expression of HMBS mRNA | CTD | PMID:16940010 | 17alpha-ethynylestradiol | decreases activity | EXP | | 6480464 | Ethinyl Estradiol results in decreased activity of HMBS protein | CTD | PMID:10416826 | 17beta-estradiol | affects expression | ISO | RGD:733096 | 6480464 | Estradiol affects the expression of HMBS mRNA | CTD | PMID:16684588 | 2,3,7,8-tetrachlorodibenzodioxine | decreases expression | ISO | RGD:733096 | 6480464 | Tetrachlorodibenzodioxin results in decreased expression of HMBS mRNA | CTD | PMID:18163543 | 2,3,7,8-tetrachlorodibenzodioxine | decreases expression | EXP | | 6480464 | Tetrachlorodibenzodioxin results in decreased expression of HMBS mRNA | CTD | PMID:21215274 | 2,3,7,8-tetrachlorodibenzodioxine | increases expression | ISO | RGD:733096 | 6480464 | Tetrachlorodibenzodioxin results in increased expression of HMBS mRNA | CTD | PMID:19465110 | 2,4,6-trinitrotoluene | affects expression | EXP | | 6480464 | Trinitrotoluene affects the expression of HMBS mRNA | CTD | PMID:21346803 | 2,4-dinitrotoluene | affects expression | EXP | | 6480464 | 2,4-dinitrotoluene affects the expression of HMBS mRNA | CTD | PMID:21346803 | 3,4-methylenedioxymethamphetamine | increases expression | ISO | RGD:733096 | 6480464 | N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of HMBS mRNA | CTD | PMID:20188158 | 4,4'-diaminodiphenylmethane | increases expression | ISO | RGD:733096 | 6480464 | 4,4'-diaminodiphenylmethane results in increased expression of HMBS mRNA | CTD | PMID:18648102 | ammonium chloride | affects expression | EXP | | 6480464 | Ammonium Chloride affects the expression of HMBS mRNA | CTD | PMID:16483693 | benzene-1,2,4-triol | multiple interactions | ISO | RGD:733095 | 6480464 | hydroxyhydroquinone inhibits the reaction [Hemin results in increased expression of HMBS mRNA] | CTD | PMID:21414390 | benzo[a]pyrene | decreases expression | ISO | RGD:733095 | 6480464 | Benzo(a)pyrene results in decreased expression of HMBS mRNA | CTD | PMID:20064835 | benzo[a]pyrene | multiple interactions | ISO | RGD:733096 | 6480464 | [Benzo(a)pyrene co-treated with XPA gene mutant form co-treated with TRP53 gene mutant form] results in decreased expression of HMBS mRNA | CTD | PMID:21715664 | butyric acid | multiple interactions | ISO | RGD:733095 | 6480464 | tellimagrandin I inhibits the reaction [Butyric Acid results in increased expression of HMBS mRNA] | CTD | PMID:14757314 | butyric acid | increases expression | ISO | RGD:733095 | 6480464 | Butyric Acid results in increased expression of HMBS mRNA | CTD | PMID:14757314 PMID:10656287 | butyric acid | multiple interactions | ISO | RGD:733095 | 6480464 | chebulinic acid inhibits the reaction [Butyric Acid results in increased expression of HMBS mRNA] | CTD | PMID:14769215 | butyric acid | increases expression | ISO | RGD:733095 | 6480464 | Butyric Acid results in increased expression of HMBS mRNA | CTD | PMID:10656287 PMID:14757314 | butyric acid | multiple interactions | ISO | RGD:733095 | 6480464 | Acetylcysteine inhibits the reaction [Butyric Acid results in increased expression of HMBS mRNA]; more ... | CTD | PMID:10656287 | carbamazepine | decreases activity | ISO | RGD:733095 | 6480464 | Carbamazepine results in decreased activity of HMBS protein | CTD | PMID:6132132 | catechol | increases expression | ISO | RGD:733095 | 6480464 | catechol results in increased expression of HMBS mRNA | CTD | PMID:23022512 | catechol | decreases methylation | ISO | RGD:733095 | 6480464 | catechol results in decreased methylation of HMBS promoter | CTD | PMID:23022512 | chloroquine | increases response to substance | ISO | RGD:733095 | 6480464 | HMBS mutant form results in increased susceptibility to Chloroquine | CTD | PMID:8772850 | cobalt dichloride | decreases expression | ISO | RGD:733095 | 6480464 | cobaltous chloride results in decreased expression of HMBS mRNA | CTD | PMID:19376846 | copper atom | decreases activity | ISO | RGD:733095 | 6480464 | Copper results in decreased activity of HMBS protein | CTD | PMID:19888908 | copper(0) | decreases activity | ISO | RGD:733095 | 6480464 | Copper results in decreased activity of HMBS protein | CTD | PMID:19888908 | copper(2+) sulfate | decreases expression | ISO | RGD:733095 | 6480464 | Copper Sulfate results in decreased expression of HMBS mRNA | CTD | PMID:19549813 | dibutyl phthalate | decreases expression | ISO | RGD:733096 | 6480464 | Dibutyl Phthalate results in decreased expression of HMBS mRNA | CTD | PMID:21266533 | dibutyl phthalate | decreases expression | EXP | | 6480464 | Dibutyl Phthalate results in decreased expression of HMBS mRNA | CTD | PMID:21266533 | elemental selenium | increases expression | ISO | RGD:733095 | 6480464 | Selenium results in increased expression of HMBS mRNA | CTD | PMID:19244175 | formaldehyde | decreases expression | EXP | | 6480464 | Formaldehyde results in decreased expression of HMBS mRNA | CTD | PMID:17285311 | hemin | multiple interactions | ISO | RGD:733095 | 6480464 | hydroquinone inhibits the reaction [Hemin results in increased expression of HMBS mRNA]; more ... | CTD | PMID:21414390 | hemin | increases expression | ISO | RGD:733095 | 6480464 | Hemin results in increased expression of HMBS mRNA | CTD | PMID:21414390 | hexachlorobenzene | increases expression | EXP | | 6480464 | Hexachlorobenzene results in increased expression of HMBS mRNA | CTD | PMID:15159207 | hydroquinone | multiple interactions | ISO | RGD:733095 | 6480464 | hydroquinone inhibits the reaction [Hemin results in increased expression of HMBS mRNA] | CTD | PMID:21414390 | imipramine | decreases activity | EXP | | 6480464 | Imipramine results in decreased activity of HMBS protein | CTD | PMID:10416826 | lead diacetate | increases activity | EXP | | 6480464 | lead acetate results in increased activity of HMBS protein | CTD | PMID:10416826 | N-acetyl-L-cysteine | multiple interactions | ISO | RGD:733095 | 6480464 | Acetylcysteine inhibits the reaction [Aclarubicin results in increased expression of HMBS mRNA]; more ... | CTD | PMID:10656287 | paclitaxel | decreases expression | EXP | | 6480464 | Paclitaxel results in decreased expression of HMBS mRNA | CTD | PMID:15585946 | paracetamol | affects expression | ISO | RGD:733096 | 6480464 | Acetaminophen affects the expression of HMBS mRNA | CTD | PMID:17562736 | phenol | multiple interactions | ISO | RGD:733095 | 6480464 | Phenol inhibits the reaction [Hemin results in increased expression of HMBS mRNA] | CTD | PMID:21414390 | pirinixic acid | increases expression | EXP | | 6480464 | pirinixic acid results in increased expression of HMBS mRNA | CTD | PMID:19162173 | quercetin | multiple interactions | ISO | RGD:733095 | 6480464 | Quercetin inhibits the reaction [Aclarubicin results in increased expression of HMBS mRNA]; more ... | CTD | PMID:10656287 | selenium atom | increases expression | ISO | RGD:733095 | 6480464 | Selenium results in increased expression of HMBS mRNA | CTD | PMID:19244175 | tamoxifen | decreases expression | ISO | RGD:733095 | 6480464 | Tamoxifen results in decreased expression of HMBS mRNA | CTD | PMID:15849065 | trimellitic anhydride | increases expression | ISO | RGD:733096 | 6480464 | trimellitic anhydride results in increased expression of HMBS mRNA | CTD | PMID:19042947 | | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene Ontology AnnotationsMolecular Pathway Annotations| External Database Links | |
| KEGG Pathway | Metabolic pathways |
| Porphyrin and chlorophyll metabolism | |
Disease Annotations
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Gene-Chemical Interaction Annotations
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Gene Ontology Annotations
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Molecular Pathway Annotations
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| External Database Links | |
| KEGG Pathway | Metabolic pathways |
| Porphyrin and chlorophyll metabolism | |
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GenMAPP |
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GOA data from the GO Consortium |
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Munoz JJ, etal., Pharmacol Toxicol. 1993 Oct;73(4):189-91. |
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NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
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Ohl F, etal., J Urol. 2006 May;175(5):1915-20. |
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Pipeline to import KEGG annotations from KEGG into RGD Pathway Ontology |
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RGD automated data pipeline |
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RGD automated import pipeline for gene-chemical interactions |
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RGD Automated Pipelines |
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References - uncuratedRGD Disease Portals| Hmbs has been annotated in the following RGD Disease Portals. |
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Comparative Map Data| Hmbs (Rattus norvegicus) |
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| HMBS (Homo sapiens) |
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| Hmbs (Mus musculus) |
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Position Markers| PMC308923P1 |
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| RH128608 |
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| RH94839 |
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| RH94840 |
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QTLs in Region (RGSC Genome Assembly v3.4)| The following QTLs overlap with this region. |  | Full Report | | CSV | | TAB | | Printer | | Gviewer |
Nucleotide Sequences| Nucleotide RefSeqs | NM_013168 | (Get FASTA) | Search GEO for Microarray Profiles |
| GenBank Nucleotide | AABR06054540 | (Get FASTA) | Search GEO for Microarray Profiles |
| AAHX01054355 | (Get FASTA) | Search GEO for Microarray Profiles | |
| BC088162 | (Get FASTA) | Search GEO for Microarray Profiles | |
| CH473975 | (Get FASTA) | Search GEO for Microarray Profiles | |
| FQ225972 | (Get FASTA) | Search GEO for Microarray Profiles | |
| FQ226062 | (Get FASTA) | Search GEO for Microarray Profiles | |
| FQ230962 | (Get FASTA) | Search GEO for Microarray Profiles | |
| FQ231091 | (Get FASTA) | Search GEO for Microarray Profiles | |
| FQ234793 | (Get FASTA) | Search GEO for Microarray Profiles | |
| FQ234870 | (Get FASTA) | Search GEO for Microarray Profiles | |
| X06827 | (Get FASTA) | Search GEO for Microarray Profiles | |
| Y12006 | (Get FASTA) | Search GEO for Microarray Profiles | |
| Y17155 | (Get FASTA) | Search GEO for Microarray Profiles |
| RefSeq Acc Id: | NM_013168 | ||||||||||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||
| Protein Acc Id: | NP_037300 | ||||||||||||||||||||
| Position: |
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Protein Sequences| Protein RefSeqs | NP_037300 | (Get FASTA) |
| GenBank Protein | AAH88162 | (Get FASTA) |
| CAA29984 | (Get FASTA) | |
| CAA72734 | (Get FASTA) | |
| CAB38454 | (Get FASTA) | |
| EDL95295 | (Get FASTA) | |
| EDL95296 | (Get FASTA) | |
| EDL95297 | (Get FASTA) | |
| EDL95298 | (Get FASTA) | |
| P19356 | (Get FASTA) |
Strain Sequence Variants
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External Database Links| Database | Acc Id | Source(s) |
| Ensembl Genes | ENSRNOG00000010390 | ENTREZGENE, UniProtKB/TrEMBL |
| Ensembl Protein | ENSRNOP00000014128 | ENTREZGENE, UniProtKB/TrEMBL |
| Ensembl Transcript | ENSRNOT00000014127 | ENTREZGENE, UniProtKB/TrEMBL |
| Entrez Gene | 25709 | ENTREZGENE |
| Gene3D-CATH | Porphobil_deam | UniProtKB/Swiss-Prot |
| Germonline | ENSRNOG00000010390 | UniProtKB/Swiss-Prot |
| HomoloGene Group ID | 158 | ENTREZGENE |
| IMAGE_CLONE | IMAGE:7375228 | IMAGE-MGC_LOAD |
| InterPro | 4pyrrol_synth_OHMeBilane_synth | UniProtKB/Swiss-Prot |
| Porphobilin_deaminase_cofac_BS | UniProtKB/Swiss-Prot | |
| Porphobilin_deaminase_N | UniProtKB/Swiss-Prot | |
| Porphobilinogen_deaminase_C | UniProtKB/Swiss-Prot | |
| IPI | IPI00194345 | UniProtKB/Swiss-Prot |
| IPI00551682 | UniProtKB/Swiss-Prot | |
| KEGG Report | rno:25709 | ENTREZGENE, UniProtKB/TrEMBL |
| MGC_CLONE | MGC:108753 | IMAGE-MGC_LOAD |
| PANTHER | Porphobil_deam | UniProtKB/Swiss-Prot |
| Pfam | Porphobil_deam | UniProtKB/Swiss-Prot |
| Porphobil_deamC | UniProtKB/Swiss-Prot | |
| PIRSF | 4pyrrol_synth_OHMeBilane_synth | UniProtKB/Swiss-Prot |
| PRINTS | PORPHBDMNASE | UniProtKB/Swiss-Prot |
| PROSITE | PORPHOBILINOGEN_DEAM | UniProtKB/Swiss-Prot |
| Superfamily-SCOP | Porphobil_deam | UniProtKB/Swiss-Prot |
| TIGR | TC216644 | |
| TIGRFAMs | hemC | UniProtKB/Swiss-Prot |
| UniGene | Rn.11080 | ENTREZGENE |
| UniProt | HEM3_RAT | UniProtKB/Swiss-Prot |
| Q5M893_RAT | UniProtKB/TrEMBL | |
| Q9R2B9_RAT | UniProtKB/TrEMBL |
Nomenclature History| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2002-06-10 | Hmbs | Hydroxymethylbilane synthase | Symbol and Name status set to approved | 1490 | APPROVED |
RGD Curation Notes| Note Type | Note | Reference |
|---|---|---|
| gene_disease | in humans, deficiency of this enzyme is associated with acute intermittent porphyria | 728563 |
| gene_function | deaminase | 728563 |
| gene_process | enzyme involved in the heme biosynthetic pathway | 728563 |
| More on Hmbs | |
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Entrez Gene |
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Ensembl Gene |
| Genome Browser |
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NCBI Map Viewer |
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Vista |
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Vista + UCSC |
| RGD Object Information | |
| RGD ID: | 2801 |
| Created: | 2000-05-25 |
| Species: | Rattus norvegicus |
| Last Modified: | 2013-04-16 |
| Status: | ACTIVE |
© Bioinformatics Program, HMGC at the Medical College of Wisconsin
RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.