Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Hmbs. (This text reflects annotations as of Thursday, January 16, 2014.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Hmbs:
  • participates in the following biological processes:
    • tetrapyrrole biosynthetic process
  • performs the following molecular functions:
    • amine binding
    • carboxylic acid binding
    • coenzyme binding
    • hydroxymethylbilane synthase activity
    • uroporphyrinogen-III synthase activity
  • is located in the following cellular components:
    • axon
    • condensed chromosome
    • cytoplasm
    • nucleus

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Summary text based on GO annotations supported by structural data

• Hmbs encodes a protein or proteins that contain the following InterPro domains: Porphobilinogen deaminase, C-terminal, Porphobilinogen deaminase, dipyrromethane cofactor binding site, Porphobilinogen deaminase, N-terminal, Tetrapyrrole biosynthesis, hydroxymethylbilane synthase, indicating that the gene product:
  • participates in the following biological processes:
    • peptidyl-pyrromethane cofactor linkage

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Hmbs indicates that it:
  • participates in the following biological processes:
    • heme biosynthetic process
    • porphyrin-containing compound biosynthetic process
  • performs the following molecular functions:
    • transferase activity

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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