Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	211
Gene name Gene Name - the full gene name approved by the HGNC.	5'-aminolevulinate synthase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ALAS1
Synonyms (NCBI Gene) Gene synonyms aliases	ALAS, ALAS-H, ALAS3, ALASH, MIG4
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3p21.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

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miRTarBase ID	miRNA	Experiments	Reference
MIRT042490	hsa-miR-423-3p	CLASH	23622248
MIRT042198	hsa-miR-484	CLASH	23622248
MIRT776862	hsa-miR-410	CLIP-seq
MIRT776863	hsa-miR-4282	CLIP-seq
MIRT776864	hsa-miR-889	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
NFIC	Unknown	15123725

Show/Hide all(42)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001666	Process	Response to hypoxia	IEA
GO:0003870	Function	5-aminolevulinate synthase activity	IBA
GO:0003870	Function	5-aminolevulinate synthase activity	IDA	16234850, 17975826
GO:0003870	Function	5-aminolevulinate synthase activity	IEA
GO:0005515	Function	Protein binding	IPI	21516116, 25416956, 25910212, 28514442, 31515488, 32296183, 32814053, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006778	Process	Porphyrin-containing compound metabolic process	IEA
GO:0006782	Process	Protoporphyrinogen IX biosynthetic process	IEA
GO:0006783	Process	Heme biosynthetic process	IBA
GO:0006783	Process	Heme biosynthetic process	IEA
GO:0006783	Process	Heme biosynthetic process	TAS	2347585
GO:0006784	Process	Heme A biosynthetic process	IEA
GO:0006785	Process	Heme B biosynthetic process	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009635	Process	Response to herbicide	IEA
GO:0010045	Process	Response to nickel cation	IEA
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0030170	Function	Pyridoxal phosphate binding	IEA
GO:0031667	Process	Response to nutrient levels	IEA
GO:0032025	Process	Response to cobalt ion	IEA
GO:0032869	Process	Cellular response to insulin stimulus	IEA
GO:0033014	Process	Tetrapyrrole biosynthetic process	IEA
GO:0034698	Process	Response to gonadotropin	IEA
GO:0042541	Process	Hemoglobin biosynthetic process	IBA
GO:0042802	Function	Identical protein binding	IPI	25416956, 32296183
GO:0045471	Process	Response to ethanol	IEA
GO:0048034	Process	Heme O biosynthetic process	IEA
GO:0048821	Process	Erythrocyte development	IBA
GO:0051591	Process	Response to cAMP	IEA
GO:0070541	Process	Response to platinum ion	IEA
GO:1903412	Process	Response to bile acid	IDA	17975826

MIM	HGNC	e!Ensembl
125290	396	ENSG00000023330

Protein

UniProt ID

P13196

Protein name

5-aminolevulinate synthase, non-specific, mitochondrial (ALAS-H) (EC 2.3.1.37) (5-aminolevulinic acid synthase 1) (Delta-ALA synthase 1) (Delta-aminolevulinate synthase 1)

Protein function

Catalyzes the pyridoxal 5'-phosphate (PLP)-dependent condensation of succinyl-CoA and glycine to form aminolevulinic acid (ALA), with CoA and CO2 as by-products.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09029	Preseq_ALAS	2 → 138	5-aminolevulinate synthase presequence	Domain
PF00155	Aminotran_1_2	243 → 590	Aminotransferase class I and II	Domain

Sequence

MESVVRRCPFLSRVPQAFLQKAGKSLLFYAQNCPKMMEVGAKPAPRALSTAAVHYQQIKE
TPPASEKDKTAKAKVQQTPDGSQQSPDGTQLPSGHPLPATSQGTASKCPFLAAQMNQRGS
SVFCKASLELQEDVQEMNAVRKEVAETSAGPSVVSVKTDGGDPSGLLKNFQDIMQKQRPE
RVSHLLQDNLPKSVSTFQYDRFFEKKIDEKKNDHTYRVFKTVNRRAHIFPMADDYSDSLI
TKKQVSVWCSNDYLGMSRHPRVCGAVMDTLKQHGAGAGGTRNISGTSKFHVDLERELADL
HGKDAALLFSSCFVANDSTLFTLAKMMPGCEIYSDSGNHASMIQGIRNSRVPKYIFRHND
VSHLRELLQRSDPSVPKIVAFETVHSMDGAVCPLEELCDVAHEFGAITFVDEVHAVGLYG
ARGGGIGDRDGVMPKMDIISGTLGKAFGCVGGYIASTSSLIDTVRSYAAGFIFTTSLPPM
LLAGALESVRILKSAEGRVLRRQHQRNVKLMRQMLMDAGLPVVHCPSHIIPVRVADAAKN
TEVCDELMSRHNIYVQAINYPTVPRGEELLRIAPTPHHTPQMMNYFLENLLVTWKQVGLE
LKPHSSAECNFCRRPLHFEVMSEREKSYFSGLSKLVSAQA

Sequence length

640

Interactions

View interactions

	KEGG		Reactome
	Glycine, serine and threonine metabolism Porphyrin metabolism Metabolic pathways Biosynthesis of cofactors		Heme biosynthesis PPARA activates gene expression Transcriptional activation of mitochondrial biogenesis

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Neuroticism	Neuroticism	N/A	N/A	GWAS

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Alzheimer Disease	Inhibit	19477221
Bipolar Disorder	Associate	31754094
Carcinoma Non Small Cell Lung	Associate	32270771
Colorectal Neoplasms	Associate	32270771
Drug Related Side Effects and Adverse Reactions	Associate	33656082
Endometrial Neoplasms	Associate	37509133
Hypopharyngeal Neoplasms	Associate	31173291
Laryngeal Neoplasms	Associate	31173291
Neoplasm Metastasis	Stimulate	32270771
Neoplasms	Associate	32270771
Niemann Pick Disease Type A	Stimulate	26062020
Porphyria Acute Intermittent	Associate	23650938, 26062020, 4270345
Porphyrias	Associate	21659532
Protoporphyria Erythropoietic	Associate	28874591, 30391163
Squamous Cell Carcinoma of Head and Neck	Associate	19650912
X linked sideroblastic anemia	Associate	10444183, 3414687

ALAS1 (5'-aminolevulinate synthase 1)