InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: ALAS1

Summary

InnateDB Gene

IDBG-38254.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ALAS1

Gene Name

aminolevulinate, delta-, synthase 1

Synonyms

ALAS; ALAS3; ALASH; MIG4

Species

Homo sapiens

Ensembl Gene

ENSG00000023330

Encoded Proteins

IDBP-38256

aminolevulinate, delta-, synthase 1

IDBP-240515

aminolevulinate, delta-, synthase 1

IDBP-483057

aminolevulinate, delta-, synthase 1

IDBP-473917

aminolevulinate, delta-, synthase 1

IDBP-480758

aminolevulinate, delta-, synthase 1

IDBP-474573

aminolevulinate, delta-, synthase 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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 erythroid tissue. The level of the mature encoded protein is regulated by heme: high levels of heme down-regulate the mature enzyme in mitochondria while low heme levels up-regulate. A pseudogene of this gene is located on chromosome 12. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 3:52198086-52214327

Strand

Forward strand

Band

p21.2

Transcripts

ENST00000310271	ENSP00000309259
ENST00000394965	ENSP00000378416
ENST00000469224	ENSP00000417719
ENST00000484952	ENSP00000418779
ENST00000493402	ENSP00000417352
ENST00000459884	ENSP00000419423

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 49 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	49 [view]
Protein-Protein	49 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003870	5-aminolevulinate synthase activity
GO:0030170	pyridoxal phosphate binding

Biological Process

GO:0006778	porphyrin-containing compound metabolic process
GO:0006782	protoporphyrinogen IX biosynthetic process
GO:0006783	heme biosynthetic process
GO:0008152	metabolic process
GO:0009058	biosynthetic process
GO:0033014	tetrapyrrole biosynthetic process
GO:0044255	cellular lipid metabolic process
GO:0044281	small molecule metabolic process