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Gene: Hmbs (hydroxymethylbilane synthase) Rattus norvegicus
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Symbol: Hmbs
Name: hydroxymethylbilane synthase
Description: Exhibits several functions, including amine binding activity; hydroxymethylbilane synthase activity; and uroporphyrinogen-III synthase activity. Involved in several processes, including cellular response to dexamethasone stimulus; cellular response to lead ion; and response to estradiol. Localizes to the axon; cytoplasm; and nucleus. Colocalizes with the condensed chromosome. Biomarker of bilirubin metabolic disorder. Human ortholog(s) of this gene implicated in acute intermittent porphyria and sickle cell anemia. Orthologous to human HMBS (hydroxymethylbilane synthase); PARTICIPATES IN heme biosynthetic pathway; acute intermittent porphyria pathway; erythropoietic porphyria pathway; INTERACTS WITH (S)-10-[(DIMETHYLAMINO)METHYL]-4-ETHYL-4,9-DIHYDROXY-1H-PYRANO[3',4':6,7]INOLIZINO[1,2-B]-QUINOLINE-3,14(4H,12H)-DIONE; 1,2,4-trimethylbenzene; 17alpha-ethynylestradiol.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: alternative name: porphobilinogen deaminase; hemC; MGC108753; PBG-D; PBGD; Porphobilinogen deaminase; pre-uroporphyrinogen synthase; URO-S; uroporphyrinogen I synthase
Orthologs:
Homo sapiens (human) : HMBS (hydroxymethylbilane synthase)  HGNC  Alliance
Mus musculus (house mouse) : Hmbs (hydroxymethylbilane synthase)  MGI  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Hmbs (hydroxymethylbilane synthase)
Pan paniscus (bonobo/pygmy chimpanzee) : HMBS (hydroxymethylbilane synthase)
Canis lupus familiaris (dog) : HMBS (hydroxymethylbilane synthase)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Hmbs (hydroxymethylbilane synthase)
Sus scrofa (pig) : HMBS (hydroxymethylbilane synthase)
more info ...
Latest Assembly: Rnor_6.0 - RGSC Genome Assembly v6.0
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.0848,667,278 - 48,674,673 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0847,286,249 - 47,293,618 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4847,314,235 - 47,321,604 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1847,323,010 - 47,328,455 (-)NCBI
Celera844,259,787 - 44,267,156 (-)NCBICelera
Cytogenetic Map8q22NCBI
RH 3.4 Map8428.0RGD
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
References - curated
References - uncurated
RGD Disease Portals

Genomics

Comparative Map Data
Position Markers
QTLs in Region (Rnor_6.0)
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Transcriptome
Promoters

Strain Variation

Strain Sequence Variants (Rnor 5.0)

Additional Information

External Database Links
Nomenclature History
RGD Curation Notes
 
More on Hmbs
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: rn5 rn6
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 2801
Created: 2000-05-25
Species: Rattus norvegicus
Last Modified: 2019-04-23
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.