ALAS1 - 5'-aminolevulinate synthase 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 211

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	Verweise	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	Verweise	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

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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
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

ALAS1 Antibodies

Art. -Nr.	Produktname	Anwendung	Reactivity
HY-P83276	ALAS1 Antibody (YA3021)	WB, ICC/IF	Human

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
Pre-clinical Phase

Approval

Bioactive Molecules (2)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-132610A	Givosiran sodium		98.71%	Unkown
HY-132610	Givosiran		96.95%	Unkown

Pre-clinical Phase

Bioactive Molecules (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS00554	ALAS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17599	Alas1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24059	Alas1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	ALAS1	NCBI