ALAS1 - 5'-aminolevulinate synthase 1 Gene

Homo sapiens

Also known as ALAS; MIG4; ALAS3; ALASH; ALAS-H

Gene ID: 211 | Gene type: protein coding

About ALAS1

Cytogenetic location: 3p21.2 Genomic coordinates (GRCh38): 3:52,198,083-52,214,327 (from NCBI)

This gene has 6 transcripts (splice variants), 238 orthologues and 5 paralogues. Biased expression in adrenal (RPKM 297.6), liver (RPKM 180.6) and 9 other tissues.

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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]

ALAS1 Products(4)

mRNA	Protein	Name
NM_000688.6	NP_000679.1	5-aminolevulinate synthase, non-specific, mitochondrial isoform 1 precursor
NM_001304443.1	NP_001291372.1	5-aminolevulinate synthase, non-specific, mitochondrial isoform 1 precursor
NM_001304444.1	NP_001291373.1	5-aminolevulinate synthase, non-specific, mitochondrial isoform 2
NM_199166.2	NP_954635.1	5-aminolevulinate synthase, non-specific, mitochondrial isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables 5-aminolevulinate synthase activity	IDA IDA: Inferred from direct assay	16234850	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21516116	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in response to bile acid	IDA IDA: Inferred from direct assay	17975826	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ALAS1 Protein Structure

Preseq_ALAS

Aminotran_1_2

0
100
200
300
400
500
600
640 a.a.

Protein Preferred Names

Protein Names

5-aminolevulinate synthase, non-specific, mitochondrial

5-aminolevulinate synthase, nonspecific, mitochondrial

5-aminolevulinic acid synthase 1

ALAS1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	ALAS1	P13196	CCHCR1	Homo sapiens	Q8TD31-3	Validated Y2H	25416956
Intra	ALAS1	P13196	CCHCR1	Homo sapiens	Q8TD31-3	Y2H Prey Pooling	25416956
Intra	ALAS1	P13196	TMSB4X	Homo sapiens	Q0P5Q0	Y2H Array	25416956
Intra	ALAS1	P13196	RTL8B	Homo sapiens	Q17RB0	Y2H Prey Pooling	25416956
Intra	ALAS1	P13196	RTL8B	Homo sapiens	Q17RB0	Validated Y2H	25416956
Intra	ALAS1	P13196	RTL8B	Homo sapiens	Q17RB0	Validated Y2H	32296183
Intra	ALAS1	P13196	MTFR2	Homo sapiens	Q6P444	Y2H Prey Pooling	25416956
Intra	ALAS1	P13196	MTFR2	Homo sapiens	Q6P444	Y2H Array	25416956
Intra	ALAS1	P13196	ZNF564	Homo sapiens	Q8TBZ8	Validated Y2H	32296183
Intra	ALAS1	P13196	ZNF564	Homo sapiens	Q8TBZ8	Y2H Array	25416956
Intra	ALAS1	P13196	CERK	Homo sapiens	Q8TCT0	Validated Y2H	25416956
Intra	ALAS1	P13196	CERK	Homo sapiens	Q8TCT0	Y2H Array	25416956
Intra	ALAS1	P13196	CERK	Homo sapiens	Q8TCT0	Y2H Prey Pooling	25416956
Intra	ALAS1	P13196	CAP2	Homo sapiens	P40123	Validated Y2H	32296183
Intra	ALAS1	P13196	UTP14C	Homo sapiens	Q5TAP6	Validated Y2H	32296183
Intra	ALAS1	P13196	PIBF1	Homo sapiens	Q4G0R1	Validated Y2H	32296183
Intra	ALAS1	P13196	FBXL8	Homo sapiens	Q96CD0	Validated Y2H	32296183
Intra	ALAS1	P13196	LONRF1	Homo sapiens	Q17RB8	Validated Y2H	25416956
Intra	ALAS1	P13196	LONRF1	Homo sapiens	Q17RB8	Validated Y2H	32296183
Intra	ALAS1	P13196	LONRF1	Homo sapiens	Q17RB8	Y2H Array	25416956
Intra	ALAS1	P13196	USP20	Homo sapiens	Q9Y2K6	Y2H Prey Pooling	25416956
Intra	ALAS1	P13196	USP20	Homo sapiens	Q9Y2K6	Validated Y2H	25416956
Intra	ALAS1	P13196	TMSB10	Homo sapiens	P63313	Validated Y2H	25416956
Intra	ALAS1	P13196	TMSB10	Homo sapiens	P63313	Validated Y2H	32296183
Intra	ALAS1	P13196	LRRC45	Homo sapiens	Q96CN5	Validated Y2H	32296183
Intra	ALAS1	P13196	C2orf42	Homo sapiens	Q9NWW7	Y2H Prey Pooling	25416956
Intra	ALAS1	P13196	C2orf42	Homo sapiens	Q9NWW7	Validated Y2H	25416956
Intra	ALAS1	P13196	C2orf42	Homo sapiens	Q9NWW7	Y2H Array	25416956
Intra	ALAS1	P13196	MTSS2	Homo sapiens	Q765P7	Validated Y2H	32296183
Intra	ALAS1	P13196	ZNF175	Homo sapiens	Q9Y473	Validated Y2H	32296183
Intra	ALAS1	P13196	ZNF175	Homo sapiens	Q9Y473	Y2H Prey Pooling	25416956
Intra	ALAS1	P13196	WIPF1	Homo sapiens	O43516	Y2H Prey Pooling	25416956
Intra	ALAS1	P13196	WIPF1	Homo sapiens	O43516	Validated Y2H	25416956
Intra	ALAS1	P13196	DUSP19	Homo sapiens	Q8WTR2	Y2H	21516116
Intra	ALAS1	P13196	DUSP19	Homo sapiens	Q8WTR2	Y2H Prey Pooling	25416956
Intra	ALAS1	P13196	TEKT4	Homo sapiens	Q8WW24	Y2H Array	25416956
Intra	ALAS1	P13196	CDC73	Homo sapiens	Q6P1J9	Y2H Array	31515488
Intra	ALAS1	P13196	CDC73	Homo sapiens	Q6P1J9	Y2H Prey Pooling	25416956
Intra	ALAS1	P13196	DUSP19	Homo sapiens	Q8WTR2	Validated Y2H	32296183
Intra	ALAS1	P13196	CDC73	Homo sapiens	Q6P1J9	Validated Y2H	25416956
Intra	ALAS1	P13196	CDC73	Homo sapiens	Q6P1J9	Y2H Array	25416956
Intra	ALAS1	P13196	EP400	Homo sapiens	Q96L91	Y2H	21516116
Intra	ALAS1	P13196	EP400	Homo sapiens	Q96L91	Y2H Prey Pooling	25416956
Intra	ALAS1	P13196	ICAM5	Homo sapiens	Q9UMF0	Y2H Pooling	32814053
Intra	ALAS1	P13196	ICAM5	Homo sapiens	Q9UMF0	Validated Y2H	32814053
Intra	ALAS1	P13196	ICAM5	Homo sapiens	Q9UMF0	Y2H Array	32814053
Intra	ALAS1	P13196	TTC23	Homo sapiens	Q5W5X9	Y2H Array	25416956
Intra	ALAS1	P13196	TTC23	Homo sapiens	Q5W5X9	Y2H Prey Pooling	25416956
Intra	ALAS1	P13196	TCEA2	Homo sapiens	Q15560	Y2H Array	25416956
Intra	ALAS1	P13196	POLDIP2	Homo sapiens	Q9Y2S7	Y2H Array	25416956
Intra	ALAS1	P13196	POLDIP2	Homo sapiens	Q9Y2S7	Y2H	21516116
Intra	ALAS1	P13196	SNX20	Homo sapiens	Q7Z614	Y2H Array	25416956
Intra	ALAS1	P13196	GNL3L	Homo sapiens	Q9NVN8	Y2H Array	25416956
Intra	ALAS1	P13196	GNL3L	Homo sapiens	Q9NVN8	Y2H Prey Pooling	25416956
Intra	ALAS1	P13196	GNL3L	Homo sapiens	Q9NVN8	Validated Y2H	25416956
Intra	ALAS1	P13196	SH2D4A	Homo sapiens	Q9H788	Validated Y2H	25416956
Intra	ALAS1	P13196	TEKT4	Homo sapiens	Q8WW24	Validated Y2H	32296183
Intra	ALAS1	P13196	KIF9	Homo sapiens	Q9HAQ2	Validated Y2H	32296183
Intra	ALAS1	P13196	ZFYVE26	Homo sapiens	Q68DK2-5	Validated Y2H	25416956
Intra	ALAS1	P13196	ZFYVE26	Homo sapiens	Q68DK2-5	Y2H Prey Pooling	25416956
Intra	ALAS1	P13196	ZFYVE26	Homo sapiens	Q68DK2-5	Y2H Array	25416956
Intra	ALAS1	P13196	RNF168	Homo sapiens	Q8IYW5	Validated Y2H	32296183
Intra	ALAS1	P13196	KLHL35	Homo sapiens	Q6PF15	Lumier	32814053
Intra	ALAS1	P13196	KLHL35	Homo sapiens	Q6PF15	Y2H Prey Pooling	25416956
Intra	ALAS1	P13196	KLHL35	Homo sapiens	Q6PF15	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Anemia, Sideroblastic, 1

Xlsa	X-Linked Sideroblastic Anemia
Hypochromic Anemia	Anh1
Hereditary Iron-Loading Anemia	Anemia, Sideroblastic, X-Linked
Anemia, Hereditary Sideroblastic	Erythroid 5-Aminolevulinate Synthase Deficiency
Hereditary Sideroblastic Anemia	SIDBA1
Anemia, Hypochromic	Sideroblastic Anemia 1
Anemia Hypochromic	X Chromosome-Linked Sideroblastic Anemia
Sideroblastic Anaemia 1	X-Linked Sideroblastic Anaemia
Anemia Hereditary Sideroblastic	Anemia Sex-Linked Hypochromic Sideroblastic
Congenital Sideroblastic Anemia	Sideroblastic Anemia X-Linked
Anemia, Sex-Linked Hypochromic Sideroblastic	Congenital Sideroblastic Anaemia
X-Linked Pyridoxine-Responsive Sideroblastic Anemia	Anemia Congenital Sideroblastic
Anemia, Sideroblastic, Type 1	Sex-Linked Hypochromic Sideroblastic Anaemia
Autosomal Recessive Sideroblastic Anaemia	Familial Sex Linked Hypochromic Anaemia

Sideroblastic Anemia

Anemia Sideroblastic	Anemia, Sideroblastic
Anemia, Hypochromic With Iron Loading

Porphyria, Acute Intermittent

Acute Intermittent Porphyria	Porphobilinogen Deaminase Deficiency
Pbgd Deficiency	AIP
Porphyria, Swedish Type	Uroporphyrinogen Synthase Deficiency
Ups Deficiency	Porphyria, Acute Intermittent, Nonerythroid Variant
Hydroxymethylbilane Synthase Deficiency	Aip - Acute Intermittent Porphyria
Porphyria Intermittent Acute	Pyrroloporphyria
Hmbs Deficiency	Porphyria Acute Intermittent

Acute Porphyria

Porphyrias, Hepatic	Hepatic Porphyria
Porphyria Hepatic	Acute Intermittent Porphyria

Porphyria

Hematoporphyria	Porphyrias
Disorder Of Porphyrin And Hem Metabolism	Disorder Of Porphyrin Metabolism
Porphyrinopathy	Porphyrin Disorder
Disorder Of Porphyrin And Heme Metabolism	Disorders Of Porphyrin Metabolism

Protoporphyria, Erythropoietic, 1

Erythropoietic Protoporphyria	Epp
Ferrochelatase Deficiency	Protoporphyria, Erythropoietic
Erythrohepatic Protoporphyria	Heme Synthetase Deficiency
Autosomal Erythropoietic Protoporphyria	EPP1
Protoporphyria	Protoporphyria Erythropoietic

Coproporphyria, Hereditary

Hereditary Coproporphyria	Coproporphyria
Coproporphyrinogen Oxidase Deficiency	HCP
Cpo Deficiency	Cpox Deficiency
Cpx Deficiency	Hereditary Coproporphyria Porphyria
Cpro Deficiency	Coproporphyria Hereditary
Porphyria Hepatica Ii	Porphyria Hepatica Coproporphyria
Porphyria, Hereditary Coproporphyria	Harderoporphyria

Cutaneous Porphyria

Porphyria, Erythropoietic

Erythropoietic Porphyria

Variegate Porphyria

Porphyria Variegata	Protoporphyrinogen Oxidase Deficiency
VP	Ppox Deficiency
Porphyria, South African Type	Porphyria Variegata, Susceptibility To
Protocoproporphyria	Porphyria Variegate
Porphyria South African Type	Pv
Porphyria, Variegate	Vp - [Variegate Porphyria]

Porphyria Cutanea Tarda

Hepatoerythropoietic Porphyria	HEP
Uroporphyrinogen Decarboxylase Deficiency	Pct
Pct, Type Ii	Porphyria, Hepatocutaneous Type
Urod Deficiency	Porphyria, Hepatoerythropoietic
Porphyria Cutanea Tarda, Susceptibility To	Familial Porphyria Cutanea Tarda
Porphyria Cutanea Tarda, Type Ii	Pct, 'Familial' Type
Porphyria, Hepatic	FPCT
Pct Type Ii	Porphyria Cutanea Tarda Type Ii
Porphyria Hepatocutaneous Type	Heterozygous Uroporphyrinogen Decarboxylase Deficiency
Urod - [Uroporphyrinogen Decarboxylase] Deficiency	Pct - [Porphyria Cutanea Tarda]

Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome

Fowler Syndrome	Encephaloclastic Proliferative Vasculopathy
Hydrocephaly/Hydranencephaly Due To Cerebral Vasculopathy	PVHH
Epv	Cerebral Proliferative Glomeruloid Vasculopathy
Hydranencephaly, Fowler Type	Proliferative Vasculopathy And Hydranencephaly/Hydrocephaly
Fowler'S Syndrome	Fowler Christmas Chapple Syndrome
Fowler Vasculopathy	Polycystic Ovaries Urethral Sphincter Dysfunction
Voiding Dysfunction And Polycystic Ovaries	Fowler Vasculopaty
Hydranencephaly Fowler Type	Pgv
Polycystic Ovaries-Urethral Sphincter Dysfunction Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-132610	Givosiran		/	Unkown
HY-132610A	Givosiran sodium		98.71%	Unkown

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00554	ALAS1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ALAS1	MGD	MGI:87989
Felis catus	ALAS1	VGNC	VGNC:59732
Rattus norvegicus	ALAS1	RGD	RGD:68392
Canis familiaris	ALAS1	VGNC	VGNC:37776
Bos taurus	ALAS1	VGNC	VGNC:25803
Macaca mulatta	ALAS1	VGNC	VGNC:69780

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