Protein family
Protein sequence
Protein function
Publications
Catalytic activity
EC number
EC number description
4.2.1.24
Lyases;
Carbon-oxygen lyases;
Hydro-lyases;
porphobilinogen synthase
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 1E51 | 2.83 | Crystal structure of native human erythrocyte 5-aminolaevulinic acid dehydratase |
| 1PV8 | 2.2 | Crystal structure of a low activity F12L mutant of human porphobilinogen synthase |
| 5HMS | 2.8 | X-ray structure of human recombinant 5-aminolaevulinic acid dehydratase (hrALAD). |
| 5HNR | 2.83 | The X-ray structure of octameric human native 5-aminolaevulinic acid dehydratase. |
GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0071353 | cellular response to interleukin-4 |
| Biological Process | GO:0071284 | cellular response to lead ion |
| Biological Process | GO:0006783 | heme biosynthetic process |
| Biological Process | GO:1901799 | negative regulation of proteasomal protein catabolic process |
| Biological Process | GO:0051260 | protein homooligomerization |
| Biological Process | GO:0006782 | protoporphyrinogen IX biosynthetic process |
| Biological Process | GO:0014823 | response to activity |
| Biological Process | GO:0010044 | response to aluminum ion |
| Biological Process | GO:0043200 | response to amino acid |
| Biological Process | GO:0046685 | response to arsenic-containing substance |
| Biological Process | GO:0046686 | response to cadmium ion |
| Biological Process | GO:0032025 | response to cobalt ion |
| Biological Process | GO:0045471 | response to ethanol |
| Biological Process | GO:0070542 | response to fatty acid |
| Biological Process | GO:0051384 | response to glucocorticoid |
| Biological Process | GO:0009635 | response to herbicide |
| Biological Process | GO:0001666 | response to hypoxia |
| Biological Process | GO:0010212 | response to ionizing radiation |
| Biological Process | GO:0010039 | response to iron ion |
| Biological Process | GO:0032496 | response to lipopolysaccharide |
| Biological Process | GO:0046689 | response to mercury ion |
| Biological Process | GO:0051597 | response to methylmercury |
| Biological Process | GO:0006979 | response to oxidative stress |
| Biological Process | GO:0070541 | response to platinum ion |
| Biological Process | GO:0010269 | response to selenium ion |
| Biological Process | GO:0010266 | response to vitamin B1 |
| Biological Process | GO:0033197 | response to vitamin E |
| Biological Process | GO:0009410 | response to xenobiotic stimulus |
| Biological Process | GO:0010043 | response to zinc ion |
| Molecular Function | GO:0003824 | catalytic activity |
| Molecular Function | GO:0042802 | identical protein binding |
| Molecular Function | GO:0004655 | porphobilinogen synthase activity |
| Molecular Function | GO:1904854 | proteasome core complex binding |
| Molecular Function | GO:0008270 | zinc ion binding |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0070062 | extracellular exosome |
| Cellular Component | GO:0005576 | extracellular region |
| Cellular Component | GO:1904813 | ficolin-1-rich granule lumen |
| Cellular Component | GO:0005634 | nucleus |
| Cellular Component | GO:0034774 | secretory granule lumen |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-189451 | Heme biosynthesis | Leaf | R-HSA-1430728 | Metabolism |
| R-HSA-6798695 | Neutrophil degranulation | Leaf | R-HSA-168256 | Immune System |
| Location
|
ECO term
|
Pubmed |
|---|
| HPO ID
|
HPO name |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000365 | Hearing impairment |
| HP:0000707 | Abnormality of the nervous system |
| HP:0000711 | Restlessness |
| HP:0000713 | Agitation |
| HP:0000716 | Depression |
| HP:0000717 | Autism |
| HP:0000738 | Hallucinations |
| HP:0000739 | Anxiety |
| HP:0000741 | Apathy |
| HP:0000763 | Sensory neuropathy |
| HP:0001252 | Hypotonia |
| HP:0001256 | Intellectual disability, mild |
| HP:0001260 | Dysarthria |
| HP:0001271 | Polyneuropathy |
| HP:0001289 | Confusion |
| HP:0001324 | Muscle weakness |
| HP:0001508 | Failure to thrive |
| HP:0001878 | Hemolytic anemia |
| HP:0002013 | Vomiting |
| HP:0002014 | Diarrhea |
| HP:0002018 | Nausea |
| HP:0002019 | Constipation |
| HP:0002027 | Abdominal pain |
| HP:0002086 | Abnormality of the respiratory system |
| HP:0002093 | Respiratory insufficiency |
| HP:0002203 | Respiratory paralysis |
| HP:0002355 | Difficulty walking |
| HP:0002572 | Episodic vomiting |
| HP:0002902 | Hyponatremia |
| HP:0003163 | Elevated urinary delta-aminolevulinic acid |
| HP:0003270 | Abdominal distention |
| HP:0003401 | Paresthesia |
| HP:0003470 | Paralysis |
| HP:0003577 | Congenital onset |
| HP:0003690 | Limb muscle weakness |
| HP:0004302 | Functional motor deficit |
| HP:0005547 | Myeloproliferative disorder |
| HP:0005946 | Ventilator dependence with inability to wean |
| HP:0006466 | Ankle flexion contracture |
| HP:0007159 | Fluctuations in consciousness |
| HP:0007178 | Motor polyneuropathy |
| HP:0009830 | Peripheral neuropathy |
| HP:0010472 | Abnormal circulating porphyrin concentration |
| HP:0011121 | Abnormality of skin morphology |
| HP:0011848 | Abdominal colic |
| HP:0012187 | Increased erythrocyte protoporphyrin concentration |
| HP:0012217 | Increased urinary porphobilinogen |
| HP:0012379 | Abnormal circulating enzyme concentration or activity |
| HP:0030272 | Abnormal erythrocyte enzyme level |
| HP:0031258 | Delirium |
| HP:0033010 | Increased fecal coproporphyrin 3 |
| HP:0040322 | Purple urine |
| HP:0100852 | Abnormal fear/anxiety-related behavior |
| Tissue
|
Cell type
|
Expression level | Reliability |
|---|---|---|---|
| adipose tissue | adipocytes | Low | Enhanced |
| adrenal gland | glandular cells | High | Enhanced |
| bone marrow | hematopoietic cells | Low | Enhanced |
| breast | glandular cells | Low | Enhanced |
| caudate | glial cells | Low | Enhanced |
| cerebellum | Purkinje cells | Low | Enhanced |
| cerebellum | cells in molecular layer | Low | Enhanced |
| cerebral cortex | glial cells | Low | Enhanced |
| colon | glandular cells | Low | Enhanced |
| duodenum | glandular cells | Low | Enhanced |
| epididymis | glandular cells | Low | Enhanced |
| gallbladder | glandular cells | Medium | Enhanced |
| hippocampus | glial cells | Low | Enhanced |
| kidney | collecting ducts | Medium | Enhanced |
| kidney | proximal tubules (cell body) | High | Enhanced |
| liver | cholangiocytes | Low | Enhanced |
| liver | hepatocytes | Medium | Enhanced |
| pancreas | exocrine glandular cells | Medium | Enhanced |
| parathyroid gland | glandular cells | Medium | Enhanced |
| placenta | trophoblastic cells | Low | Enhanced |
| prostate | glandular cells | Medium | Enhanced |
| rectum | glandular cells | Low | Enhanced |
| salivary gland | glandular cells | High | Enhanced |
| skin 1 | cells in basal layer | Low | Enhanced |
| skin 1 | cells in granular layer | Low | Enhanced |
| skin 1 | cells in spinous layer | Low | Enhanced |
| skin 1 | endothelial cells | Low | Enhanced |
| skin 1 | langerhans cells | Low | Enhanced |
| skin 1 | melanocytes | Low | Enhanced |
| skin 2 | cells in basal layer | Low | Enhanced |
| skin 2 | cells in granular layer | Low | Enhanced |
| skin 2 | cells in spinous layer | Low | Enhanced |
| skin 2 | fibrohistiocytic cells | Low | Enhanced |
| skin 2 | langerhans cells | Low | Enhanced |
| skin 2 | melanocytes | Low | Enhanced |
| small intestine | glandular cells | Low | Enhanced |
| stomach 1 | glandular cells | Medium | Enhanced |
| stomach 2 | glandular cells | Medium | Enhanced |
| testis | Leydig cells | High | Enhanced |
| testis | sertoli cells | Medium | Enhanced |
| thyroid gland | glandular cells | Low | Enhanced |
| urinary bladder | urothelial cells | Low | Enhanced |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| porphyria due to ala dehydratase deficiency | MONDO:0013000 | E80 | chapter4, Endocrine, nutritional and metabolic diseases | OMIM:612740 | Orphanet:100924 |