Bos taurus Gene: HMBS | |||||||||||
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Summary | |||||||||||
InnateDB Gene | IDBG-631690.3 | ||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||
Gene Symbol | HMBS | ||||||||||
Gene Name | Porphobilinogen deaminase | ||||||||||
Synonyms | |||||||||||
Species | Bos taurus | ||||||||||
Ensembl Gene | ENSBTAG00000005364 | ||||||||||
Encoded Proteins |
Porphobilinogen deaminase
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Protein Structure | |||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||
Entrez Gene | |||||||||||
Summary |
This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000256269:
This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008] |
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Gene Information | |||||||||||
Type | Protein coding | ||||||||||
Genomic Location | Chromosome 15:30194980-30202275 | ||||||||||
Strand | Forward strand | ||||||||||
Band | |||||||||||
Transcripts |
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Interactions | |||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||
Species
Mus musculus
Homo sapiens
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Gene ID
Gene Order
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Pathways | |||||||||||
NETPATH | |||||||||||
REACTOME |
Metabolism of porphyrins pathway
Heme biosynthesis pathway
Metabolism pathway
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KEGG | |||||||||||
INOH | |||||||||||
PID NCI | |||||||||||
Pathway Predictions based on Human Orthology Data | |||||||||||
NETPATH | |||||||||||
REACTOME |
Metabolism pathway
Heme biosynthesis pathway
Metabolism of porphyrins pathway
Heme biosynthesis pathway
Metabolism of porphyrins pathway
Metabolism pathway
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KEGG |
Porphyrin and chlorophyll metabolism pathway
Porphyrin and chlorophyll metabolism pathway
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INOH |
Porphyrin metabolism pathway
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PID NCI | |||||||||||
Cross-References | |||||||||||
SwissProt | Q2KIN5 | ||||||||||
TrEMBL | H6S1N6 | ||||||||||
UniProt Splice Variant | |||||||||||
Entrez Gene | 515614 | ||||||||||
UniGene | Bt.107485 Bt.21218 | ||||||||||
RefSeq | NM_001046207 | ||||||||||
HUGO | |||||||||||
OMIM | |||||||||||
CCDS | |||||||||||
HPRD | |||||||||||
IMGT | |||||||||||
EMBL | BC112573 GU817009 | ||||||||||
GenPept | AAI12574 ADX21065 | ||||||||||
RNA Seq Atlas | 515614 | ||||||||||