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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]
HMBS (Hydroxymethylbilane Synthase) is a Protein Coding gene. Diseases associated with HMBS include Porphyria, Acute Intermittent and Porphyria. Among its related pathways are Porphyrin and chlorophyll metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include hydroxymethylbilane synthase activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004418 | hydroxymethylbilane synthase activity | IBA,IDA | 18004775 |
GO:0016740 | transferase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Porphyrin and chlorophyll metabolism | ||
2 | Metabolism |
.40
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006779 | porphyrin-containing compound biosynthetic process | IEA | -- |
GO:0006782 | protoporphyrinogen IX biosynthetic process | IEA | -- |
GO:0006783 | heme biosynthetic process | TAS | -- |
GO:0018160 | peptidyl-pyrromethane cofactor linkage | IEA | -- |
GO:0033014 | tetrapyrrole biosynthetic process | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
hydroxymethylbilane |
|
73023-76-4 | ||||
Formyl-CoA |
|
13131-49-2 |
|
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HMBS 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | HMBS 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | HMBS 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Hmbs 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Hmbs 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | HMBS 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | HMBS 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | HMBS 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | HMBS 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hmbs 30 |
|
||
Str.4847 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.32592 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | hmbsb 30 31 |
|
OneToMany | |
hmbsa 31 |
|
OneToMany | |||
zgc64128 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | l(3)02640 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011080 30 |
|
||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ABL107C 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | HEM3 30 31 |
|
OneToOne | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C15147g 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | HEMC 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os02g0168800 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10281 31 |
|
OneToOne | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU10292 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | hem3 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.12172 30 |
|
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
1479 | Pathogenic: Acute intermittent porphyria | 119,092,955(+) | CTG/C | FRAMESHIFT_VARIANT | |
1482 | Pathogenic: Porphyria, acute intermittent, nonerythroid variant | 119,088,258(+) | GA/G | FRAMESHIFT_VARIANT,FIVE_PRIME_UTR_VARIANT | |
639190 | Likely Pathogenic: not provided | 119,092,471(+) | A/G | MISSENSE_VARIANT,INTRON_VARIANT | |
640707 | Uncertain Significance: not provided | 119,085,066(+) | G/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
641071 | Pathogenic: not provided | 119,092,467(+) | CA/C | FRAMESHIFT_VARIANT,INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
porphyria, acute intermittent |
|
|
porphyria |
|
|
acute porphyria |
|
|
variegate porphyria |
|
|
coproporphyria, hereditary |
|