Identification |
HMDB Protein ID
| CDBP00351 |
Secondary Accession Numbers
| Not Available |
Name
| Porphobilinogen deaminase |
Description
| Not Available |
Synonyms
|
- HMBS
- Hydroxymethylbilane synthase
- PBG-D
- Pre-uroporphyrinogen synthase
|
Gene Name
| HMBS |
Protein Type
| Enzyme |
Biological Properties |
General Function
| Involved in hydroxymethylbilane synthase activity |
Specific Function
| Tetrapolymerization of the monopyrrole PBG into the hydroxymethylbilane pre-uroporphyrinogen in several discrete steps.
|
GO Classification
|
Biological Process |
cellular response to cytokine stimulus |
cellular response to lead ion |
peptidyl-pyrromethane cofactor linkage |
response to carbohydrate stimulus |
response to vitamin |
response to estradiol stimulus |
small molecule metabolic process |
cellular response to dexamethasone stimulus |
response to zinc ion |
response to hypoxia |
cellular response to arsenic-containing substance |
response to methylmercury |
response to amino acid stimulus |
response to cobalt ion |
heme biosynthetic process |
protoporphyrinogen IX biosynthetic process |
organ regeneration |
cellular response to antibiotic |
cellular response to amine stimulus |
response to drug |
astrocyte differentiation |
Cellular Component |
cytosol |
condensed chromosome |
nucleus |
axon |
Function |
hydroxymethylbilane synthase activity |
transferase activity, transferring alkyl or aryl (other than methyl) groups |
catalytic activity |
transferase activity |
Molecular Function |
amine binding |
carboxylic acid binding |
hydroxymethylbilane synthase activity |
uroporphyrinogen-III synthase activity |
coenzyme binding |
Process |
macromolecule modification |
protein modification process |
metabolic process |
macromolecule metabolic process |
post-translational protein modification |
protein-cofactor linkage |
peptidyl-pyrromethane cofactor linkage |
biosynthetic process |
cellular biosynthetic process |
heterocycle biosynthetic process |
tetrapyrrole biosynthetic process |
|
Cellular Location
|
- Cytoplasm (Probable)
|
Pathways
|
Name | SMPDB/Pathwhiz | KEGG | protoporphyrin-IX biosynthesis | Not Available | Not Available | Porphyrin and chlorophyll metabolism | Not Available | ![Map00860](https://www.genome.jp/kegg/misc/thumbnail/map00860.gif) | Porphyrin Metabolism | ![Thumb](https://smpdb.ca/super_pathway_visualizations/PW000158/thumb) ![Thumb?image type=greyscale](https://smpdb.ca/super_pathway_visualizations/PW000158/thumb?image_type=greyscale) ![Thumb?image type=simple](https://smpdb.ca/super_pathway_visualizations/PW000158/thumb?image_type=simple) | ![Map00860](https://www.genome.jp/kegg/misc/thumbnail/map00860.gif) | Acute Intermittent Porphyria | ![Thumb](https://smpdb.ca/super_pathway_visualizations/PW000174/thumb) ![Thumb?image type=greyscale](https://smpdb.ca/super_pathway_visualizations/PW000174/thumb?image_type=greyscale) ![Thumb?image type=simple](https://smpdb.ca/super_pathway_visualizations/PW000174/thumb?image_type=simple) | Not Available | Porphyria Variegata (PV) | ![Thumb](https://smpdb.ca/super_pathway_visualizations/PW000175/thumb) ![Thumb?image type=greyscale](https://smpdb.ca/super_pathway_visualizations/PW000175/thumb?image_type=greyscale) ![Thumb?image type=simple](https://smpdb.ca/super_pathway_visualizations/PW000175/thumb?image_type=simple) | Not Available |
|
Gene Properties |
Chromosome Location
| 11 |
Locus
| 11q23.3 |
SNPs
| HMBS |
Gene Sequence
|
>1086 bp
ATGTCTGGTAACGGCAATGCGGCTGCAACGGCGGAAGAAAACAGCCCAAAGATGAGAGTG
ATTCGCGTGGGTACCCGCAAGAGCCAGCTTGCTCGCATACAGACGGACAGTGTGGTGGCA
ACATTGAAAGCCTCGTACCCTGGCCTGCAGTTTGAAATCATTGCTATGTCCACCACAGGG
GACAAGATTCTTGATACTGCACTCTCTAAGATTGGAGAGAAAAGCCTGTTTACCAAGGAG
CTTGAACATGCCCTGGAGAAGAATGAAGTGGACCTGGTTGTTCACTCCTTGAAGGACCTG
CCCACTGTGCTTCCTCCTGGCTTCACCATCGGAGCCATCTGCAAGCGGGAAAACCCTCAT
GATGCTGTTGTCTTTCACCCAAAATTTGTTGGGAAGACCCTAGAAACCCTGCCAGAGAAG
AGTGTGGTGGGAACCAGCTCCCTGCGAAGAGCAGCCCAGCTGCAGAGAAAGTTCCCGCAT
CTGGAGTTCAGGAGTATTCGGGGAAACCTCAACACCCGGCTTCGGAAGCTGGACGAGCAG
CAGGAGTTCAGTGCCATCATCCTGGCAACAGCTGGCCTGCAGCGCATGGGCTGGCACAAC
CGGGTGGGGCAGATCCTGCACCCTGAGGAATGCATGTATGCTGTGGGCCAGGGGGCCTTG
GGCGTGGAAGTGCGAGCCAAGGACCAGGACATCTTGGATCTGGTGGGTGTGCTGCACGAT
CCCGAGACTCTGCTTCGCTGCATCGCTGAAAGGGCCTTCCTGAGGCACCTGGAAGGAGGC
TGCAGTGTGCCAGTAGCCGTGCATACAGCTATGAAGGATGGGCAACTGTACCTGACTGGA
GGAGTCTGGAGTCTAGACGGCTCAGATAGCATACAAGAGACCATGCAGGCTACCATCCAT
GTCCCTGCCCAGCATGAAGATGGCCCTGAGGATGACCCACAGTTGGTAGGCATCACTGCT
CGTAACATTCCACGAGGGCCCCAGTTGGCTGCCCAGAACTTGGGCATCAGCCTGGCCAAC
TTGTTGCTGAGCAAAGGAGCCAAAAACATCCTGGATGTTGCACGGCAGCTTAACGATGCC
CATTAA
|
Protein Properties |
Number of Residues
| 361 |
Molecular Weight
| 39329.74 |
Theoretical pI
| 7.174 |
Pfam Domain Function
|
|
Signals
|
Not Available
|
Transmembrane Regions
|
Not Available
|
Protein Sequence
|
>Porphobilinogen deaminase
MSGNGNAAATAEENSPKMRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIIAMSTTG
DKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSLKDLPTVLPPGFTIGAICKRENPH
DAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKLDEQ
QEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQGALGVEVRAKDQDILDLVGVLHD
PETLLRCIAERAFLRHLEGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIH
VPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGISLANLLLSKGAKNILDVARQLNDA
H
|
External Links |
GenBank ID Protein
| 158261573 |
UniProtKB/Swiss-Prot ID
| P08397 |
UniProtKB/Swiss-Prot Entry Name
| HEM3_HUMAN |
PDB IDs
|
|
GenBank Gene ID
| AK290275 |
GeneCard ID
| HMBS |
GenAtlas ID
| HMBS |
HGNC ID
| HGNC:4982 |
References |
General References
| Not Available |