ALAS1 - 5'-aminolevulinate synthase 1 Gene

中文名称：5'-氨基乙酰丙酸合酶 1

种属: Homo sapiens

同用名: ALAS; MIG4; ALAS3; ALASH; ALAS-H

基因 ID: 211 | 基因类型: protein coding

关于 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.

功能概要

该基因编码线粒体酶，该酶催化血红素 (铁原卟啉) 生物合成中的限速步骤。该基因编码的酶是管家酶；一个单独的基因编码一种特定于红细胞组织的酶。成熟编码蛋白的水平受血红素调节：高水平血红素下调线粒体中的成熟酶，而低血红素水平上调。该基因的假基因位于 12 号染色体上。可变剪接导致编码不同亚型的多个转录变体。[RefSeq 提供，2015 年 1 月]

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 基因产物(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

ALAS1 蛋白结构

Preseq_ALAS

Aminotran_1_2

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

蛋白主名

其他名称

5-aminolevulinate synthase, non-specific, mitochondrial

5-aminolevulinate synthase, nonspecific, mitochondrial

5-aminolevulinic acid synthase 1

关联疾病

疾病名称

别名

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

疾病名称	别名
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

目录号	产品名	作用方式	纯度	是否罕见病
HY-132610	Givosiran		97.90%	否
HY-132610A	Givosiran sodium		97.90%	否

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS00554	ALAS1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。沪(浦)应急管危经许[2021]201709(QFYS)

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ALAS1 - 5'-aminolevulinate synthase 1 Gene

关于 ALAS1

功能概要

ALAS1 基因产物(4)

ALAS1 蛋白结构

关联疾病

直系同源

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ALAS1 - 5'-aminolevulinate synthase 1 Gene

关于 ALAS1

功能概要

ALAS1 基因产物(4)

ALAS1 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z