2. Gene
  3. ALAS1 - 5'-aminolevulinate synthase 1 Gene

ALAS1 - 5'-aminolevulinate synthase 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

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
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables 5-aminolevulinate synthase activity IDA
IDA: 通过直接分析推断
16234850 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21516116 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in response to bile acid IDA
IDA: 通过直接分析推断
17975826 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

ALAS1 蛋白结构

Preseq_ALAS

Preseq_ALAS: 5-aminolevulinate synthase presequence (3 - 71)

Preseq_ALAS

Preseq_ALAS: 5-aminolevulinate synthase presequence (100 - 139)

Aminotran_1_2

Aminotran_1_2: Aminotransferase class I and II (245 - 590)

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  • 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

ALAS1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
ALAS1 P13196 CCHCR1 Homo sapiens Q8TD31-3
Validated Y2H
25416956
种属内
ALAS1 P13196 CCHCR1 Homo sapiens Q8TD31-3
Y2H Prey Pooling
25416956
种属内
ALAS1 P13196 TMSB4X Homo sapiens Q0P5Q0
Y2H Array
25416956
种属内
ALAS1 P13196 RTL8B Homo sapiens Q17RB0
Y2H Prey Pooling
25416956
种属内
ALAS1 P13196 RTL8B Homo sapiens Q17RB0
Validated Y2H
25416956
种属内
ALAS1 P13196 RTL8B Homo sapiens Q17RB0
Validated Y2H
32296183
种属内
ALAS1 P13196 MTFR2 Homo sapiens Q6P444
Y2H Prey Pooling
25416956
种属内
ALAS1 P13196 MTFR2 Homo sapiens Q6P444
Y2H Array
25416956
种属内
ALAS1 P13196 ZNF564 Homo sapiens Q8TBZ8
Validated Y2H
32296183
种属内
ALAS1 P13196 ZNF564 Homo sapiens Q8TBZ8
Y2H Array
25416956
种属内
ALAS1 P13196 CERK Homo sapiens Q8TCT0
Validated Y2H
25416956
种属内
ALAS1 P13196 CERK Homo sapiens Q8TCT0
Y2H Array
25416956
种属内
ALAS1 P13196 CERK Homo sapiens Q8TCT0
Y2H Prey Pooling
25416956
种属内
ALAS1 P13196 CAP2 Homo sapiens P40123
Validated Y2H
32296183
种属内
ALAS1 P13196 UTP14C Homo sapiens Q5TAP6
Validated Y2H
32296183
种属内
ALAS1 P13196 PIBF1 Homo sapiens Q4G0R1
Validated Y2H
32296183
种属内
ALAS1 P13196 FBXL8 Homo sapiens Q96CD0
Validated Y2H
32296183
种属内
ALAS1 P13196 LONRF1 Homo sapiens Q17RB8
Validated Y2H
25416956
种属内
ALAS1 P13196 LONRF1 Homo sapiens Q17RB8
Validated Y2H
32296183
种属内
ALAS1 P13196 LONRF1 Homo sapiens Q17RB8
Y2H Array
25416956
种属内
ALAS1 P13196 USP20 Homo sapiens Q9Y2K6
Y2H Prey Pooling
25416956
种属内
ALAS1 P13196 USP20 Homo sapiens Q9Y2K6
Validated Y2H
25416956
种属内
ALAS1 P13196 TMSB10 Homo sapiens P63313
Validated Y2H
25416956
种属内
ALAS1 P13196 TMSB10 Homo sapiens P63313
Validated Y2H
32296183
种属内
ALAS1 P13196 LRRC45 Homo sapiens Q96CN5
Validated Y2H
32296183
种属内
ALAS1 P13196 C2orf42 Homo sapiens Q9NWW7
Y2H Prey Pooling
25416956
种属内
ALAS1 P13196 C2orf42 Homo sapiens Q9NWW7
Validated Y2H
25416956
种属内
ALAS1 P13196 C2orf42 Homo sapiens Q9NWW7
Y2H Array
25416956
种属内
ALAS1 P13196 MTSS2 Homo sapiens Q765P7
Validated Y2H
32296183
种属内
ALAS1 P13196 ZNF175 Homo sapiens Q9Y473
Validated Y2H
32296183
种属内
ALAS1 P13196 ZNF175 Homo sapiens Q9Y473
Y2H Prey Pooling
25416956
种属内
ALAS1 P13196 WIPF1 Homo sapiens O43516
Y2H Prey Pooling
25416956
种属内
ALAS1 P13196 WIPF1 Homo sapiens O43516
Validated Y2H
25416956
种属内
ALAS1 P13196 DUSP19 Homo sapiens Q8WTR2
Y2H
21516116
种属内
ALAS1 P13196 DUSP19 Homo sapiens Q8WTR2
Y2H Prey Pooling
25416956
种属内
ALAS1 P13196 TEKT4 Homo sapiens Q8WW24
Y2H Array
25416956
种属内
ALAS1 P13196 CDC73 Homo sapiens Q6P1J9
Y2H Array
31515488
种属内
ALAS1 P13196 CDC73 Homo sapiens Q6P1J9
Y2H Prey Pooling
25416956
种属内
ALAS1 P13196 DUSP19 Homo sapiens Q8WTR2
Validated Y2H
32296183
种属内
ALAS1 P13196 CDC73 Homo sapiens Q6P1J9
Validated Y2H
25416956
种属内
ALAS1 P13196 CDC73 Homo sapiens Q6P1J9
Y2H Array
25416956
种属内
ALAS1 P13196 EP400 Homo sapiens Q96L91
Y2H
21516116
种属内
ALAS1 P13196 EP400 Homo sapiens Q96L91
Y2H Prey Pooling
25416956
种属内
ALAS1 P13196 ICAM5 Homo sapiens Q9UMF0
Y2H Pooling
32814053
种属内
ALAS1 P13196 ICAM5 Homo sapiens Q9UMF0
Validated Y2H
32814053
种属内
ALAS1 P13196 ICAM5 Homo sapiens Q9UMF0
Y2H Array
32814053
种属内
ALAS1 P13196 TTC23 Homo sapiens Q5W5X9
Y2H Array
25416956
种属内
ALAS1 P13196 TTC23 Homo sapiens Q5W5X9
Y2H Prey Pooling
25416956
种属内
ALAS1 P13196 TCEA2 Homo sapiens Q15560
Y2H Array
25416956
种属内
ALAS1 P13196 POLDIP2 Homo sapiens Q9Y2S7
Y2H Array
25416956
种属内
ALAS1 P13196 POLDIP2 Homo sapiens Q9Y2S7
Y2H
21516116
种属内
ALAS1 P13196 SNX20 Homo sapiens Q7Z614
Y2H Array
25416956
种属内
ALAS1 P13196 GNL3L Homo sapiens Q9NVN8
Y2H Array
25416956
种属内
ALAS1 P13196 GNL3L Homo sapiens Q9NVN8
Y2H Prey Pooling
25416956
种属内
ALAS1 P13196 GNL3L Homo sapiens Q9NVN8
Validated Y2H
25416956
种属内
ALAS1 P13196 SH2D4A Homo sapiens Q9H788
Validated Y2H
25416956
种属内
ALAS1 P13196 TEKT4 Homo sapiens Q8WW24
Validated Y2H
32296183
种属内
ALAS1 P13196 KIF9 Homo sapiens Q9HAQ2
Validated Y2H
32296183
种属内
ALAS1 P13196 ZFYVE26 Homo sapiens Q68DK2-5
Validated Y2H
25416956
种属内
ALAS1 P13196 ZFYVE26 Homo sapiens Q68DK2-5
Y2H Prey Pooling
25416956
种属内
ALAS1 P13196 ZFYVE26 Homo sapiens Q68DK2-5
Y2H Array
25416956
种属内
ALAS1 P13196 RNF168 Homo sapiens Q8IYW5
Validated Y2H
32296183
种属内
ALAS1 P13196 KLHL35 Homo sapiens Q6PF15
Lumier
32814053
种属内
ALAS1 P13196 KLHL35 Homo sapiens Q6PF15
Y2H Prey Pooling
25416956
种属内
ALAS1 P13196 KLHL35 Homo sapiens Q6PF15
Y2H Array
25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

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

相关产品

Approval
生物活性分子 (2)
目录号 产品名 作用方式
纯度 是否罕见病
HY-132610 Givosiran / 否
HY-132610A Givosiran sodium 98.71% 否
Pre-clinical Phase
生物活性分子 (1)
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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