Hmbs (hydroxymethylbilane synthase) - Rat Genome Database

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Gene: Hmbs (hydroxymethylbilane synthase) Mus musculus
Analyze
Symbol: Hmbs
Name: hydroxymethylbilane synthase
RGD ID: 733096
MGI Page MGI
Description: Predicted to enable several functions, including amine binding activity; hydroxymethylbilane synthase activity; and uroporphyrinogen-III synthase activity. Predicted to be involved in heme biosynthetic process; liver development; and response to xenobiotic stimulus. Predicted to be located in several cellular components, including axon; cytosol; and perinuclear region of cytoplasm. Predicted to be active in cytoplasm. Predicted to colocalize with condensed chromosome. Is expressed in several structures, including alimentary system; brain; genitourinary system; hemolymphoid system; and respiratory system. Used to study acute intermittent porphyria. Human ortholog(s) of this gene implicated in acute intermittent porphyria and sickle cell anemia. Orthologous to human HMBS (hydroxymethylbilane synthase).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: PBG; PBG-D; PBGD; porphobilinogen deaminase; pre-uroporphyrinogen synthase; T25658; U; Ups; Ur; Uros1
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: Gm29718  
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39944,247,645 - 44,255,525 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl944,247,636 - 44,255,525 (-)EnsemblGRCm39 Ensembl
GRCm38944,336,348 - 44,344,228 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl944,336,339 - 44,344,228 (-)EnsemblGRCm38mm10GRCm38
MGSCv37944,144,431 - 44,152,311 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36944,087,343 - 44,095,170 (-)NCBIMGSCv36mm8
Celera941,591,069 - 41,599,175 (-)NCBICelera
Cytogenetic Map9A5.2NCBI
cM Map924.84NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2,4-trimethylbenzene  (ISO)
1,2-dimethylhydrazine  (EXP)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trinitrotoluene  (ISO)
2,4-dinitrotoluene  (ISO)
3,4-methylenedioxymethamphetamine  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4,4'-diaminodiphenylmethane  (EXP)
4,4'-sulfonyldiphenol  (ISO)
5-aza-2'-deoxycytidine  (ISO)
aclacinomycin A  (ISO)
aconitine  (ISO)
acrolein  (ISO)
all-trans-retinoic acid  (ISO)
alpha-pinene  (ISO)
aluminium ion  (ISO)
ammonium chloride  (ISO)
aristolochic acid  (ISO)
arsenous acid  (ISO)
barium ion  (ISO)
benzene-1,2,4-triol  (ISO)
benzo[a]pyrene  (ISO)
bisphenol A  (ISO)
butyric acid  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
calcium ion  (ISO)
carbamazepine  (ISO)
carbon nanotube  (EXP)
catechol  (ISO)
CGP 52608  (ISO)
Chebulinic acid  (ISO)
chloroquine  (ISO)
chromium ion  (ISO)
clothianidin  (ISO)
cobalt dichloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (ISO)
dexamethasone  (ISO)
diarsenic trioxide  (ISO)
diazinon  (ISO)
dibutyl phthalate  (EXP,ISO)
dihydrofolic acid  (ISO)
elemental selenium  (ISO)
endosulfan  (ISO)
enzyme inhibitor  (ISO)
ethyl methanesulfonate  (ISO)
finasteride  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (EXP)
formaldehyde  (ISO)
gallic acid  (ISO)
hemin  (ISO)
hexachlorobenzene  (ISO)
hyaluronic acid  (ISO)
hydrogen peroxide  (ISO)
hydroquinone  (ISO)
imipramine  (ISO)
indometacin  (ISO)
ivermectin  (ISO)
lead diacetate  (ISO)
lead ion  (ISO)
lead(II) chloride  (ISO)
magnesium ion  (ISO)
mercury dichloride  (ISO)
methamphetamine  (ISO)
methapyrilene  (ISO)
methyl methanesulfonate  (ISO)
N-acetyl-L-cysteine  (ISO)
nefazodone  (ISO)
nickel atom  (ISO)
nickel ion  (ISO)
nitrofen  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
p-chloromercuribenzoic acid  (ISO)
paclitaxel  (ISO)
paracetamol  (EXP,ISO)
pentachlorophenol  (EXP)
phenol  (ISO)
pirinixic acid  (ISO)
pyrrolidine dithiocarbamate  (ISO)
quercetin  (ISO)
resveratrol  (ISO)
S-adenosyl-L-homocysteine  (ISO)
S-adenosyl-L-methioninate  (ISO)
S-adenosyl-L-methionine  (ISO)
selenium atom  (ISO)
sodium dichromate  (ISO)
sodium fluoride  (EXP)
sulfacetamide  (ISO)
sulfadiazine  (ISO)
sulfamerazine  (ISO)
sulfamoxole  (ISO)
sulfanilamide  (ISO)
sulfapyridine  (ISO)
sulfisomidine  (ISO)
sulfisoxazole  (ISO)
tamoxifen  (ISO)
Tellimagrandin I  (ISO)
testosterone  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
topotecan  (ISO)
trichostatin A  (ISO)
trimellitic anhydride  (EXP)
urethane  (ISO)
vinclozolin  (ISO)
zinc ion  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Biosynthesis of heme in mammals. Ajioka RS, etal., Biochim Biophys Acta. 2006 Jul;1763(7):723-36. Epub 2006 Jun 3.
2. Increased erythrocyte uroporphyrinogen-l-synthetase, delta-aminolevulinic acid dehydratase and protoporphyrin in hemolytic anemias. Anderson KE, etal., Am J Med. 1977 Sep;63(3):359-64.
3. Synthesis, delivery and regulation of eukaryotic heme and Fe-S cluster cofactors. Barupala DP, etal., Arch Biochem Biophys. 2016 Feb 15;592:60-75. doi: 10.1016/j.abb.2016.01.010. Epub 2016 Jan 16.
4. Heme and hemoproteins in streptozotocin-diabetic female rats. Bitar M and Weiner M, Biochem Pharmacol. 1983 Jun 15;32(12):1921-8.
5. Reversal of sulfamerazine inhibition of rat hepatic uroporphyrinogen synthesis by folic acid. Christenson WR, etal., Life Sci. 1986 May 5;38(18):1679-84.
6. Evidence for an ancestral founder of the common R116W mutation in the hydroxymethylbilane synthase gene in acute intermittent porphyria in The Netherlands. de Rooij FW, etal., Cell Mol Biol (Noisy-le-grand). 2009 Jul 1;55(2):64-9.
7. Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP). Dragneva S, etal., JIMD Rep. 2014;16:57-64. doi: 10.1007/8904_2014_320. Epub 2014 Jul 6.
8. Comparative inhibition of hepatic hydroxymethylbilane synthase by both hard and soft metal cations. Farmer DJ and Hollebone BR, Can J Biochem Cell Biol. 1984 Jan;62(1):49-54. doi: 10.1139/o84-008.
9. GenMAPP: Gene Map Annotator and Pathway Profiler GenMAPP
10. Detection of a R173W mutation in the porphobilinogen deaminase gene in the Nova Scotian "foreign Protestant" population with acute intermittent porphyria: a founder effect. Greene-Davis ST, etal., Clin Biochem. 1997 Dec;30(8):607-12. doi: 10.1016/s0009-9120(97)00114-8.
11. Novel HMBS founder mutation and significant intronic polymorphism in Spanish patients with acute intermittent porphyria. Guillén-Navarro E, etal., Ann Hum Genet. 2004 Sep;68(Pt 5):509-14. doi: 10.1046/j.1529-8817.2003.00114.x.
12. Mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria. Homedan C, etal., Hum Mol Genet. 2015 Sep 1;24(17):5015-23. doi: 10.1093/hmg/ddv222. Epub 2015 Jun 12.
13. Systemic messenger RNA as an etiological treatment for acute intermittent porphyria. Jiang L, etal., Nat Med. 2018 Dec;24(12):1899-1909. doi: 10.1038/s41591-018-0199-z. Epub 2018 Oct 8.
14. Functional annotation of a full-length mouse cDNA collection. Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90.
15. Porphyria presenting with bilateral radial motor neuropathy: evidence of a novel gene mutation. King PH, etal., Neurology 2002 Apr 9;58(7):1118-21.
16. Inhibition of uroporphyrinogen I synthase activity and depression of microsomal heme and cytochrome P-450 in rat liver by bilirubin. Kohashi M, etal., Life Sci. 1984 Jan 9;34(2):193-6. doi: 10.1016/0024-3205(84)90590-3.
17. Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria. Lindberg RL, etal., Nat Genet. 1996 Feb;12(2):195-9.
18. Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations. Loskove Y, etal., Mol Genet Metab. 2019 Nov;128(3):352-357. doi: 10.1016/j.ymgme.2018.10.008. Epub 2018 Oct 26.
19. Two new mutations in the porphobilinogen deaminase gene and a screening method using PCR amplification of specific alleles. Lundin G, etal., Hum Genet. 1994 Jan;93(1):59-62. doi: 10.1007/bf00218914.
20. A splicing mutation in the hydroxymethylbilane synthase gene in a Japanese family with acute intermittent porphyria. Maeda N, etal., Clin Biochem. 1999 Aug;32(6):411-7. doi: 10.1016/s0009-9120(99)00043-0.
21. Characterization of porphobilinogen deaminase from rat liver. Mazzetti MB and Tomio JM, Biochim Biophys Acta. 1988 Nov 2;957(1):97-104.
22. Electronic Transfer of Homolog Data MGD and Homologene mouse data transfer
23. MGDs mouse GO annotations MGD data from the GO Consortium
24. Identification and characterization of HMBS gene mutations in Spanish patients with acute intermittent porphyria. Méndez M, etal., Cell Mol Biol (Noisy-le-grand). 2009 Jul 1;55(2):55-63.
25. Standardization strategy for quantitative PCR in human seminoma and normal testis. Neuvians TP, etal., J Biotechnol. 2005 May 4;117(2):163-71.
26. Gene expression studies in prostate cancer tissue: which reference gene should be selected for normalization? Ohl F, etal., J Mol Med. 2005 Dec;83(12):1014-24. Epub 2005 Oct 7.
27. Identification and validation of suitable endogenous reference genes for gene expression studies of human bladder cancer. Ohl F, etal., J Urol. 2006 May;175(5):1915-20.
28. Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73.
29. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
30. Sulfonamide inhibition of rat hepatic uroporphyrinogen I synthetase activity and the biosynthesis of heme. Peters PG, etal., Arch Biochem Biophys. 1980 Apr 15;201(1):88-94. doi: 10.1016/0003-9861(80)90490-7.
31. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
32. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
33. Pteridine regulation of inhibition of hepatic uroporphyrinogen L synthetase activity by lead chloride. Piper WN and Van Lier BL, Mol Pharmacol. 1977 Nov;13(6):1126-35.
34. Isolation of a factor that protects against lead inhibition of hepatic and erythrocytic uroporphyrinogen I synthetase activity. Piper WN and Van Lier RB, Life Sci. 1976 Oct 15;19(8):1225-34. doi: 10.1016/0024-3205(76)90258-7.
35. Inhibition of the biosynthesis of uroporphyrinogen and heme in rat liver during obstructive jaundice produced by bile duct ligation. Piper WN, etal., Arch Biochem Biophys. 1986 Apr;246(1):143-8.
36. Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria. Puy H, etal., Hum Genet. 1998 Nov;103(5):570-5.
37. Mouse MP Annotation Import Pipeline RGD automated import pipeline
38. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
39. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
40. An Inducible Promoter Responsive to Different Porphyrinogenic Stimuli Improves Gene Therapy Vectors for Acute Intermittent Porphyria. Serrano-Mendioroz I, etal., Hum Gene Ther. 2018 Apr;29(4):480-491. doi: 10.1089/hum.2017.056. Epub 2018 Jan 2.
41. Abnormal thyroid function and hypercholesterolemia in a case of acute intermittent porphyria. Shiue JW, etal., Taiwan Yi Xue Hui Za Zhi. 1989 Jul;88(7):729-31.
42. Haplotype analysis of Norwegian and Swedish patients with acute intermittent porphyria (AIP): Extreme haplotype heterogeneity for the mutation R116W. Tjensvoll K, etal., Dis Markers. 2003-2004;19(1):41-6. doi: 10.1155/2003/384971.
43. Mutation in the exon 10 (R173W) of the hydroxymethylbilane synthase gene in two unrelated Japanese families with acute intermittent porphyria. Tomie Y, etal., Res Commun Mol Pathol Pharmacol. 1998 Jan;99(1):5-15.
44. Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria. Ulbrichova D, etal., Blood Cells Mol Dis. 2009 Mar-Apr;42(2):167-73. doi: 10.1016/j.bcmd.2008.11.001. Epub 2009 Jan 12.
45. Detection of DNA variations in the polymorphic hydroxymethylbilane synthase gene by high-resolution melting analysis. Ulbrichova-Douderova D and Martasek P, Anal Biochem. 2009 Dec 1;395(1):41-8. doi: 10.1016/j.ab.2009.07.050. Epub 2009 Aug 5.
46. Selective accumulation of endogenously produced porphyrins in a liver metastasis model in rats. Van Hillegersberg R, etal., Gastroenterology. 1992 Aug;103(2):647-51. doi: 10.1016/0016-5085(92)90860-2.
47. Mechanism of hexachlorobenzene-induced porphyria in rats. Effect of phenobarbitone pretreatment. Wainstok de Calmanovici R, etal., Biochem J. 1984 Mar 15;218(3):753-63.
48. Sex comparison of heme pathway in rats bearing hepatic tumors. Wainstok de Calmanovici R, etal., Tumori. 1991 Oct 31;77(5):379-84.
49. Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations. Whatley SD, etal., Hum Genet. 1999 Jun;104(6):505-10. doi: 10.1007/s004390050995.
50. A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria. Yang J, etal., Gene. 2015 Jul 10;565(2):288-90. doi: 10.1016/j.gene.2015.04.027. Epub 2015 Apr 11.
51. Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria. Yasuda M, etal., Hum Mol Genet. 2019 Jun 1;28(11):1755-1767. doi: 10.1093/hmg/ddz003.
Additional References at PubMed
PMID:1679745   PMID:2037597   PMID:2216762   PMID:2768242   PMID:6735174   PMID:6930671   PMID:7138495   PMID:7567998   PMID:7753194   PMID:7753195   PMID:7774939   PMID:8889548  
PMID:10207164   PMID:10349636   PMID:11042159   PMID:11076861   PMID:11106424   PMID:12140190   PMID:12477932   PMID:12819125   PMID:12917623   PMID:14610273   PMID:14681479   PMID:15208740  
PMID:15782199   PMID:15923635   PMID:16141072   PMID:16141073   PMID:17374603   PMID:18052609   PMID:18799693   PMID:19210546   PMID:19799774   PMID:19815305   PMID:20018908   PMID:20508144  
PMID:20696915   PMID:21267068   PMID:21873635   PMID:22412963   PMID:23369715   PMID:23562909   PMID:23665500   PMID:24194600   PMID:24697899   PMID:25144769   PMID:26287972   PMID:26908609  
PMID:30085095   PMID:32197664   PMID:32554809   PMID:32916704  


Genomics

Comparative Map Data
Hmbs
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39944,247,645 - 44,255,525 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl944,247,636 - 44,255,525 (-)EnsemblGRCm39 Ensembl
GRCm38944,336,348 - 44,344,228 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl944,336,339 - 44,344,228 (-)EnsemblGRCm38mm10GRCm38
MGSCv37944,144,431 - 44,152,311 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36944,087,343 - 44,095,170 (-)NCBIMGSCv36mm8
Celera941,591,069 - 41,599,175 (-)NCBICelera
Cytogenetic Map9A5.2NCBI
cM Map924.84NCBI
HMBS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811119,084,881 - 119,093,549 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl11119,084,866 - 119,093,834 (+)EnsemblGRCh38hg38GRCh38
GRCh3711118,955,591 - 118,964,259 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611118,460,797 - 118,469,469 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411118,460,802 - 118,469,467NCBI
Celera11116,113,008 - 116,121,673 (+)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11114,895,043 - 114,903,707 (+)NCBIHuRef
CHM1_111118,841,878 - 118,850,561 (+)NCBICHM1_1
T2T-CHM13v2.011119,105,272 - 119,113,932 (+)NCBIT2T-CHM13v2.0
Hmbs
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2844,673,554 - 44,680,950 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl844,673,554 - 44,680,957 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx850,169,431 - 50,176,911 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0848,448,147 - 48,455,627 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0846,318,525 - 46,325,957 (-)NCBIRnor_WKY
Rnor_6.0848,667,278 - 48,674,673 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl848,667,275 - 48,674,748 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0847,286,249 - 47,293,618 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4847,314,235 - 47,321,604 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1847,323,010 - 47,328,455 (-)NCBI
Celera844,259,787 - 44,267,156 (-)NCBICelera
RH 3.4 Map8428.0RGD
Cytogenetic Map8q22NCBI
Hmbs
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541220,192,522 - 20,202,635 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541220,192,519 - 20,202,635 (+)NCBIChiLan1.0ChiLan1.0
HMBS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.111117,852,295 - 117,860,757 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11117,852,295 - 117,860,757 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v011113,923,004 - 113,931,732 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
HMBS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1514,767,306 - 14,775,205 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl514,767,666 - 14,775,082 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha514,820,660 - 14,828,175 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0514,710,999 - 14,718,527 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl514,710,641 - 14,718,554 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1514,849,036 - 14,856,511 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0514,753,058 - 14,760,536 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0514,793,431 - 14,800,910 (-)NCBIUU_Cfam_GSD_1.0
Hmbs
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947101,116,546 - 101,124,682 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365424,037,201 - 4,050,810 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049365424,037,888 - 4,046,089 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HMBS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl946,300,050 - 46,308,868 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1946,300,039 - 46,308,681 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2951,335,231 - 51,343,641 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HMBS
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11110,457,799 - 110,466,361 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1110,457,537 - 110,466,095 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604315,567,851 - 15,576,221 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hmbs
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478414,467,533 - 14,474,954 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478414,467,515 - 14,474,954 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:326
Count of miRNA genes:140
Interacting mature miRNAs:171
Transcripts:ENSMUST00000077353, ENSMUST00000097558
Prediction methods: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 (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1300532Tbs2_mtuberculosis severity 2 (mouse)Not determined91236997046370114Mouse
10043917Obq37_mobesity QTL 37 (mouse)Not determined91339117547391175Mouse
1357637Si5lq2_mserum IGFBP-5 level QTL 2 (mouse)Not determined91541175149411890Mouse
4141591Cq4_mcholesterol QTL 4 (mouse)Not determined91541175149411890Mouse
1301421Lgth4_mbody length 4 (mouse)Not determined91541175149411890Mouse
4141447Cfmq2_mcystic fibrosis modifier QTL 2 (mouse)Not determined91541175149411890Mouse
12790993Adq1_maortic diameter QTL 1 (mouse)91574962749749627Mouse
11354951Pdcc3_mplasmacytoid dentritic cell compartment 3 (mouse)91574962749749627Mouse
12790997Adq2_maortic diameter QTL 2 (mouse)91574962749749627Mouse
12880415V125Dq7_mvitamin D active form serum level QTL 7 (mouse)91601129650011296Mouse
12880416V125Dq8_mvitamin D active form serum level QTL 8 (mouse)91601129650011296Mouse
13504834Hdlq109_mHDL QTL 109 (mouse)91670964150709641Mouse
1357465Vtbt6_mvertebral trabecular bone trait 6 (mouse)Not determined91697884050978943Mouse
1300643Pvcan2_mprotection against vaginal candidiasis 2 (mouse)Not determined91994340653943525Mouse
1301439Morph2_mmorphine antinociception 2 (mouse)Not determined92015336254153492Mouse
1301883Skull12_mskull morphology 12 (mouse)Not determined92030619754306370Mouse
1301045Sluc10_msusceptibility to lung cancer 10 (mouse)Not determined92030619754306370Mouse
10043950Pbft5_mpercent body fat 5 (mouse)Not determined92030619754306370Mouse
4142352Lmr17_mleishmaniasis resistance 17 (mouse)Not determined92030619754306370Mouse
12904939Edlmmq8_mextensor digitorum longus muscle mass QTL 8 (mouse)92085274054852740Mouse
13208563Bmiq8_mbody mass index QTL 8 (mouse)92491129668907282Mouse
11532712Sluc39d_msusceptibility to lung cancer 39d (mouse)92558748559587581Mouse
11532696Sluc39c_msusceptibility to lung cancer 39c (mouse)92558748559587581Mouse
11532694Sluc39a_msusceptibility to lung cancer 39a (mouse)92558748559587581Mouse
11532695Sluc39b_msusceptibility to lung cancer 39b (mouse)92558748559587581Mouse
10043987Stheal13_msoft tissue heal 13 (mouse)Not determined92679642160796552Mouse
1300932Hdlq17_mHDL QTL 17 (mouse)Not determined92679642160796552Mouse
10043867Mtbcq9_mmultiple trait body composition QTL 9 (mouse)Not determined92679642160796552Mouse
10043878Adip20_madiposity 20 (mouse)Not determined92725119461251323Mouse
10043847Hdlq89_mHDL QTL 89 (mouse)Not determined92929292963293072Mouse
1301782Chol11_mcholesterol 11 (mouse)Not determined92929292963293072Mouse
1301365Ap5q_malcohol preference 5 QTL (mouse)Not determined93005316464053277Mouse
1357746Vtbt7_mvertebral trabecular bone trait 7 (mouse)Not determined93073991564740021Mouse
1302180Actd4_mactivity-distance traveled 4 (mouse)Not determined93243456366434857Mouse
4141148Cq5_mcholesterol QTL 5 (mouse)Not determined93245242166452546Mouse
1301692Hts_mhypothermia sensitivity (mouse)Not determined93251117266511421Mouse
4141323Ptnu3_mproteinuria 3 (mouse)Not determined93288970266889836Mouse
1357709Si5lq3_mserum IGFBP-5 level QTL 3 (mouse)Not determined93311102567111140Mouse
1558872Ibdq1_minflammatory bowel disease QTL 1 (mouse)Not determined93397884073439255Mouse
1301252Etohc3_methanol consumption 3 (mouse)Not determined93503447869034599Mouse
1301972Cocrb8_mcocaine related behavior 8 (mouse)Not determined93503447869034599Mouse
1558968Tbdr1_mbody temperature response to dietary restriction, QTL 1 (mouse)Not determined93503447869034599Mouse
10045613Rapop7_mradiation-induced apoptosis 6 (mouse)Not determined93673624349420511Mouse
1301501Lmr2_mleishmaniasis resistance 2 (mouse)Not determined93694340650111140Mouse
1301007Pid2_mprion incubation determinant 2 (mouse)Not determined93715336244251323Mouse
4142042Alpq3_malcohol preference QTL 3 (mouse)Not determined93730619798701707Mouse
10043971Obq32_mobesity QTL 32 (mouse)Not determined93781952871819528Mouse
12790986Pcho9_mplasma cholesterol 9 (mouse)93809957572099575Mouse
12790992Arlsq1_maortic root lesion size QTL 1 (mouse)93809957572099575Mouse
12791002Arlsq2_maortic root lesion size QTL 2 (mouse)93809957572099575Mouse
12738449Spcq2_msperm count QTL 2 (mouse)93939988573399885Mouse
1558993Tdmq1_mtype 2 diabetes modifying QTL 1 (mouse)Not determined94041959451808670Mouse
4141071Ath29_matherosclerosis 29 (mouse)Not determined94041959474607925Mouse
11532693Sluc39_msusceptibility to lung cancer 39 (mouse)94064537448351476Mouse
1301702Brm1_mbrachyury modifier 1 (mouse)Not determined94080504774805204Mouse
12738415Lfibq8_mliver fibrosis QTL 8 (mouse)94140216245343743Mouse
1301558Stheal8_msoft tissue heal 8 (mouse)Not determined94348071477480860Mouse
10045639Heal28_mwound healing/regeneration 28 (mouse)Not determined94348071477480860Mouse
13432191Actrse4_mactivity response to saline/ethanol 4 (mouse)94370321448603195Mouse

Markers in Region
d105  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38944,339,897 - 44,340,026UniSTSGRCm38
MGSCv37944,147,980 - 44,148,109UniSTSGRCm37
Celera941,594,853 - 41,594,988UniSTS
Cytogenetic Map9A5.2UniSTS
cM Map926.0UniSTS
Whitehead Genetic920.8UniSTS
D9Mit25.1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38944,340,035 - 44,340,206UniSTSGRCm38
MGSCv37944,148,118 - 44,148,289UniSTSGRCm37
Celera941,594,997 - 41,595,168UniSTS
Cytogenetic Map9A5.2UniSTS
cM Map926.0UniSTS
cM Map9 UniSTS
Whitehead Genetic920.8UniSTS
D9Mit25.2  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38944,339,762 - 44,339,903UniSTSGRCm38
MGSCv37944,147,845 - 44,147,986UniSTSGRCm37
Celera941,594,718 - 41,594,859UniSTS
Cytogenetic Map9A5.2UniSTS
cM Map926.0UniSTS
cM Map9 UniSTS
Whitehead Genetic920.8UniSTS
PMC308923P1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38944,339,700 - 44,340,759UniSTSGRCm38
MGSCv37944,147,783 - 44,148,842UniSTSGRCm37
Celera941,594,656 - 41,595,724UniSTS
Cytogenetic Map9A5.2UniSTS


Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001110251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_013551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC122428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI853649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK028234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK143558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK151020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK153884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK158160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK166734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK167702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK179579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK184386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK199783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK202969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK218865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BB844509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BY786671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ372709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENSMUST00000077353   ⟹   ENSMUSP00000076575
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl944,247,636 - 44,255,525 (-)Ensembl
GRCm38.p6 Ensembl944,336,339 - 44,344,228 (-)Ensembl
RefSeq Acc Id: ENSMUST00000097558   ⟹   ENSMUSP00000095166
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl944,247,649 - 44,253,678 (-)Ensembl
GRCm38.p6 Ensembl944,336,352 - 44,342,381 (-)Ensembl
RefSeq Acc Id: ENSMUST00000214012
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl944,250,779 - 44,252,530 (-)Ensembl
GRCm38.p6 Ensembl944,339,482 - 44,341,233 (-)Ensembl
RefSeq Acc Id: ENSMUST00000214967
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl944,249,072 - 44,250,828 (-)Ensembl
GRCm38.p6 Ensembl944,337,775 - 44,339,531 (-)Ensembl
RefSeq Acc Id: ENSMUST00000215091   ⟹   ENSMUSP00000149522
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl944,252,514 - 44,253,602 (-)Ensembl
GRCm38.p6 Ensembl944,341,217 - 44,342,305 (-)Ensembl
RefSeq Acc Id: ENSMUST00000215859
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl944,248,387 - 44,251,013 (-)Ensembl
GRCm38.p6 Ensembl944,337,090 - 44,339,716 (-)Ensembl
RefSeq Acc Id: ENSMUST00000215934
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl944,251,312 - 44,253,604 (-)Ensembl
GRCm38.p6 Ensembl944,340,015 - 44,342,307 (-)Ensembl
RefSeq Acc Id: ENSMUST00000216658   ⟹   ENSMUSP00000150138
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl944,247,707 - 44,249,272 (-)Ensembl
GRCm38.p6 Ensembl944,336,410 - 44,337,975 (-)Ensembl
RefSeq Acc Id: ENSMUST00000216852   ⟹   ENSMUSP00000150673
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl944,250,807 - 44,253,602 (-)Ensembl
GRCm38.p6 Ensembl944,339,510 - 44,342,305 (-)Ensembl
RefSeq Acc Id: NM_001110251   ⟹   NP_001103721
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39944,247,645 - 44,253,678 (-)NCBI
GRCm38944,336,348 - 44,342,381 (-)NCBI
MGSCv37944,144,431 - 44,152,311 (-)RGD
Celera941,591,069 - 41,599,175 (-)RGD
cM Map9 ENTREZGENE
Sequence:
RefSeq Acc Id: NM_013551   ⟹   NP_038579
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39944,247,645 - 44,255,525 (-)NCBI
GRCm38944,336,348 - 44,344,228 (-)ENTREZGENE
MGSCv37944,144,431 - 44,152,311 (-)RGD
Celera941,591,069 - 41,599,175 (-)RGD
cM Map9 ENTREZGENE
Sequence:
Reference Sequences
RefSeq Acc Id: NP_038579   ⟸   NM_013551
- Peptide Label: isoform 1
- UniProtKB: Q3TIV0 (UniProtKB/Swiss-Prot),   P22907 (UniProtKB/Swiss-Prot),   Q3UBC6 (UniProtKB/TrEMBL),   A0A8C6GKJ7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001103721   ⟸   NM_001110251
- Peptide Label: isoform 2
- UniProtKB: Q3UPG1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSMUSP00000150673   ⟸   ENSMUST00000216852
RefSeq Acc Id: ENSMUSP00000150138   ⟸   ENSMUST00000216658
RefSeq Acc Id: ENSMUSP00000095166   ⟸   ENSMUST00000097558
RefSeq Acc Id: ENSMUSP00000076575   ⟸   ENSMUST00000077353
RefSeq Acc Id: ENSMUSP00000149522   ⟸   ENSMUST00000215091
Protein Domains
Porphobil_deam   Porphobil_deamC

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P22907-F1-model_v2 AlphaFold P22907 1-361 view protein structure

Promoters
RGD ID:6848416
Promoter ID:MM_ACW:50316
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:3T3L1_Day1,   3T3L1_Day2,   3T3L1_Day3,   BoneMarrow_0Hour,   MEF_B6,   Spleen
Transcripts:HMBS.GSEP07-UNSPLICED
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv36944,145,216 - 44,145,716 (-)MPROMDB
RGD ID:6844662
Promoter ID:MM_KWN:57109
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:3T3L1_Day2,   3T3L1_Day3,   3T3L1_Day4,   Spleen
Transcripts:NM_001110251
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv36944,150,406 - 44,151,457 (-)MPROMDB
RGD ID:6844665
Promoter ID:MM_KWN:57110
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:3T3L1_Day0,   3T3L1_Day1,   3T3L1_Day2,   3T3L1_Day3,   3T3L1_Day4,   BoneMarrow_0Hour,   BoneMarrow_2Hour,   BoneMarrow_4Hour,   Brain,   ES_Cell,   Kidney,   Liver,   Lung,   MEF_B4,   MEF_B6,   Spleen
Transcripts:NM_013551
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv36944,152,046 - 44,153,147 (-)MPROMDB
RGD ID:8669372
Promoter ID:EPDNEW_M12717
Type:initiation region
Name:Hmbs_2
Description:Mus musculus hydroxymethylbilane synthase , transcript variant1, mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_M12718  
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38944,342,305 - 44,342,365EPDNEW
RGD ID:8669374
Promoter ID:EPDNEW_M12718
Type:initiation region
Name:Hmbs_1
Description:Mus musculus hydroxymethylbilane synthase , transcript variant1, mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_M12717  
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38944,344,191 - 44,344,251EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:96112 AgrOrtholog
Ensembl Genes ENSMUSG00000032126 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSMUSP00000076575 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSMUSP00000095166 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSMUSP00000149522.2 UniProtKB/TrEMBL
  ENSMUSP00000150138.2 UniProtKB/TrEMBL
  ENSMUSP00000150673.2 UniProtKB/TrEMBL
Ensembl Transcript ENSMUST00000077353 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSMUST00000097558 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSMUST00000215091.2 UniProtKB/TrEMBL
  ENSMUST00000216658.2 UniProtKB/TrEMBL
  ENSMUST00000216852.2 UniProtKB/TrEMBL
Gene3D-CATH 3.30.160.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro HemC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Porphobilin_deaminase_cofac_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Porphobilin_deaminase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Porphobilinogen_deaminase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Porphobilinogen_deaminase_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:15288 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
MGD MGI:96112 ENTREZGENE
NCBI Gene 15288 ENTREZGENE
PANTHER PTHR11557 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Porphobil_deam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Porphobil_deamC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Hmbs PhenoGen
PIRSF 4pyrrol_synth_OHMeBilane_synth UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS PORPHBDMNASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PORPHOBILINOGEN_DEAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54782 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs hemC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1L1SRM0_MOUSE UniProtKB/TrEMBL
  A0A1L1ST19_MOUSE UniProtKB/TrEMBL
  A0A1L1SU93_MOUSE UniProtKB/TrEMBL
  A0A8C6GKJ7 ENTREZGENE
  HEM3_MOUSE UniProtKB/Swiss-Prot, ENTREZGENE
  Q3TIV0 ENTREZGENE
  Q3UBC6 ENTREZGENE, UniProtKB/TrEMBL
  Q3UPG1 ENTREZGENE, UniProtKB/TrEMBL
  Q99L41_MOUSE UniProtKB/TrEMBL
  X5F9R3_MOUSE UniProtKB/TrEMBL
UniProt Secondary Q3TIV0 UniProtKB/Swiss-Prot