Version 5.4
Homo sapiens Gene: ALAS2
Summary
InnateDB Gene IDBG-72056.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ALAS2
Gene Name aminolevulinate, delta-, synthase 2
Synonyms ALAS-E; ALASE; ANH1; ASB; XLDPP; XLEPP; XLSA
Species Homo sapiens
Ensembl Gene ENSG00000158578
Encoded Proteins
IDBP-72058
aminolevulinate, delta-, synthase 2
IDBP-72060
aminolevulinate, delta-, synthase 2
IDBP-237997
aminolevulinate, delta-, synthase 2
IDBP-374002
aminolevulinate, delta-, synthase 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The product of this gene specifies an erythroid-specific mitochondrially located enzyme. The encoded protein catalyzes the first step in the heme biosynthetic pathway. Defects in this gene cause X-linked pyridoxine-responsive sideroblastic anemia. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome X:55009055-55031064
Strand Reverse strand
Band p11.21
Transcripts
ENST00000330807 ENSP00000332369
ENST00000335854 ENSP00000337131
ENST00000396198 ENSP00000379501
ENST00000455688 ENSP00000407204
ENST00000498636
ENST00000463868
ENST00000477869
ENST00000493869
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003870 5-aminolevulinate synthase activity
GO:0005515 protein binding
GO:0016594 glycine binding
GO:0030170 pyridoxal phosphate binding
GO:0050662 coenzyme binding
Biological Process
GO:0001666 response to hypoxia
GO:0006778 porphyrin-containing compound metabolic process
GO:0006782 protoporphyrinogen IX biosynthetic process
GO:0006783 heme biosynthetic process
GO:0006879 cellular iron ion homeostasis
GO:0008152 metabolic process
GO:0009058 biosynthetic process
GO:0030218 erythrocyte differentiation
GO:0032364 oxygen homeostasis
GO:0033014 tetrapyrrole biosynthetic process
GO:0042541 hemoglobin biosynthetic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005759 mitochondrial matrix
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000025270
View Gene Order
ENSBTAG00000013178
Not yet available
Pathways
NETPATH
REACTOME
REACT_9465
Heme biosynthesis pathway
REACT_9431
Metabolism of porphyrins pathway
REACT_111217
Metabolism pathway
KEGG
hsa00260
Glycine, serine and threonine metabolism pathway
hsa00860
Porphyrin and chlorophyll metabolism pathway
INOH
INOH website
Glycine Serine metabolism pathway
PID NCI
Cross-References
SwissProt P22557
TrEMBL Q6QNT2 Q9H366
UniProt Splice Variant
Entrez Gene 212
UniGene Hs.522666
RefSeq NM_001037968 NM_000032 NM_001037967 XM_005261995
HUGO HGNC:397
OMIM 301300
CCDS CCDS43960 CCDS14366 CCDS35303
HPRD 02356
IMGT
EMBL AF068624 AF130113 AK290565 AK291589 AK313118 AL020991 AY532069 AY532070 AY532071 AY532072 AY532073 AY532074 AY532075 AY532076 AY532077 AY532078 AY532079 AY532080 AY532081 AY532082 AY532083 AY532084 AY532085 AY532086 AY532087 AY532088 AY532089 AY532091 AY532092 AY532093 AY532094 AY532095 AY532096 AY532097 AY532098 AY532099 AY532100 AY532101 AY532102 AY532103 AY532104 AY532105 AY532106 AY532107 AY532108 AY532109 BC030230 CH471154 X56352 X60364 Z83821
GenPept AAC39838 AAG35538 AAH30230 AAT09371 AAT09372 AAT09373 AAT09374 AAT09375 AAT09376 AAT09377 AAT09378 AAT09379 AAT09380 AAT09381 AAT09382 AAT09383 AAT09384 AAT09385 AAT09386 AAT09387 AAT09388 AAT09389 AAT09390 AAT09391 AAT09393 AAT09394 AAT09395 AAT09396 AAT09397 AAT09398 AAT09399 AAT09400 AAT09401 AAT09402 AAT09403 AAT09404 AAT09405 AAT09406 AAT09407 AAT09408 AAT09409 AAT09410 AAT09411 BAF83254 BAF84278 BAG35939 CAA15886 CAA39795 CAA42916 CAX15017 EAW93211 EAW93213
RNA Seq Atlas 212

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca