• Gene id: 211

Gene Summary

• Gene Symbol: ALAS1   Gene   UCSC   Ensembl
• Aliases: ALAS, ALAS-H, ALAS3, ALASH, MIG4
• Gene name: 5'-aminolevulinate synthase 1
• Alternate names: 5-aminolevulinate synthase, nonspecific, mitochondrial, 5-aminolevulinic acid synthase 1, aminolevulinate, delta-, synthase 1, delta-ALA synthase 1, delta-aminolevulinate synthase 1, migration-inducing protein 4,
• Gene location: 3p21.2 (52198082: 52214326)     Exons: 12     NC_000003.12
• Gene summary(Entrez): This gene encodes the mitochondrial enzyme which is catalyzes the rate-limiting step in heme (iron-protoporphyrin) biosynthesis. The enzyme encoded by this gene is the housekeeping enzyme; a separate gene encodes a form of the enzyme that is specific for
• OMIM: 604831

Protein Summary

• Protein general information: P13196  
  • Name: 5 aminolevulinate synthase, nonspecific, mitochondrial (ALAS H) (EC 2.3.1.37) (5 aminolevulinic acid synthase 1) (Delta ALA synthase 1) (Delta aminolevulinate synthase 1)
  • Length: 640  
  • Mass: 70581
• Sequence:

  MESVVRRCPFLSRVPQAFLQKAGKSLLFYAQNCPKMMEVGAKPAPRALSTAAVHYQQIKETPPASEKDKTAKAKV
  QQTPDGSQQSPDGTQLPSGHPLPATSQGTASKCPFLAAQMNQRGSSVFCKASLELQEDVQEMNAVRKEVAETSAG
  PSVVSVKTDGGDPSGLLKNFQDIMQKQRPERVSHLLQDNLPKSVSTFQYDRFFEKKIDEKKNDHTYRVFKTVNRR
  AHIFPMADDYSDSLITKKQVSVWCSNDYLGMSRHPRVCGAVMDTLKQHGAGAGGTRNISGTSKFHVDLERELADL
  HGKDAALLFSSCFVANDSTLFTLAKMMPGCEIYSDSGNHASMIQGIRNSRVPKYIFRHNDVSHLRELLQRSDPSV
  PKIVAFETVHSMDGAVCPLEELCDVAHEFGAITFVDEVHAVGLYGARGGGIGDRDGVMPKMDIISGTLGKAFGCV
  GGYIASTSSLIDTVRSYAAGFIFTTSLPPMLLAGALESVRILKSAEGRVLRRQHQRNVKLMRQMLMDAGLPVVHC
  PSHIIPVRVADAAKNTEVCDELMSRHNIYVQAINYPTVPRGEELLRIAPTPHHTPQMMNYFLENLLVTWKQVGLE
  LKPHSSAECNFCRRPLHFEVMSEREKSYFSGLSKLVSAQA

• Structural information:
  • Interpro: IPR010961  IPR015118  IPR001917  IPR004839  IPR015424   IPR015422  IPR015421  
  • Prosite: PS00599
  • STRING: ENSP00000378416
• Other Databases: GeneCards:  ALAS1  Malacards:  ALAS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001666	response to hypoxia	IBA	biological process
GO:0003870	5-aminolevulinate synthase activity	IBA	molecular function
GO:0042541	hemoglobin biosynthetic process	IBA	biological process
GO:0048821	erythrocyte development	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0006783	heme biosynthetic process	IBA	biological process
GO:0003870	5-aminolevulinate synthase activity	IEA	molecular function
GO:0006778	porphyrin-containing compound metabolic process	IEA	biological process
GO:0009058	biosynthetic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0030170	pyridoxal phosphate binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0033014	tetrapyrrole biosynthetic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0006783	heme biosynthetic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0006783	heme biosynthetic process	TAS	biological process
GO:0003870	5-aminolevulinate synthase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006783	heme biosynthetic process	TAS	biological process
GO:0007005	mitochondrion organization	TAS	biological process
GO:0019216	regulation of lipid metabolic process	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006782	protoporphyrinogen IX biosynthetic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00860	Porphyrin and chlorophyll metabolism
hsa00260	Glycine, serine and threonine metabolism

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq