2. Gene
  3. ISCA1 - iron-sulfur cluster assembly 1 Gene

ISCA1 - iron-sulfur cluster assembly 1 Gene

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

中文名称：铁硫簇组装 1

种属: Homo sapiens

同用名: ISA1; HBLD2; MMDS5; hIscA; hIscA1

基因 ID: 81689 | 基因类型: protein coding

关于 ISCA1

Cytogenetic location: 9q21.33 Genomic coordinates (GRCh38): 9:86,264,546-86,282,538 (from NCBI)

This gene has 4 transcripts (splice variants), 210 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in adrenal (RPKM 27.0), brain (RPKM 25.4) and 25 other tissues.

功能概要

ISCA1 是一种线粒体蛋白，参与铁硫簇的生物发生和组装，在电子转移反应中发挥作用 (Cozar-Castellano 等人，2004 [PubMed 15262227]) 。[OMIM 提供，2008 年 3 月]

ISCA1 is a mitochondrial protein involved in the biogenesis and assembly of iron-sulfur clusters, which play a role in electron-transfer reactions (Cozar-Castellano et al., 2004 [PubMed 15262227]).[supplied by OMIM, Mar 2008]

ISCA1 基因产物(1)

mRNA Protein Name
NM_030940.4 NP_112202.2 iron-sulfur cluster assembly 1 homolog, mitochondrial precursor
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
25347204 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of mitochondrial [4Fe-4S] assembly complex IDA
IDA: 通过直接分析推断
25347204 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

ISCA1 蛋白结构

Fe-S_biosyn

Fe-S_biosyn: Iron-sulphur cluster biosynthesis (25 - 125)

  • 0
  • 100
  • 129 a.a.
蛋白主名 其他名称

iron-sulfur cluster assembly 1 homolog, mitochondrial

HESB like domain containing 2

ISCA1 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
ISCA1 Q9BUE6 ISCA2 Homo sapiens Q86U28
NMR
25347204
种属内
ISCA1 Q9BUE6 ISCA2 Homo sapiens Q86U28
UV-VIS
25347204
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
Multiple Mitochondrial Dysfunctions Syndrome 5

MMDS5

Multiple Mitochondrial Dysfunctions Syndrome Type 5

Isca1 Deficiency

Mitochondrial Dysfunctions, Multiple, Syndrome, Type 5
Multiple Mitochondrial Dysfunctions Syndrome

Fatal Multiple Mitochondrial Dysfunctions Syndrome

Fatal Multiple Mitochondrial Dysfunction Syndrome

Mmds

Multiple Mitochondrial Dysfunction Syndrome

Mitochondrial Dysfunctions, Multiple, Syndrome

Multiple Mitochondrial Dysfunctions Syndrome 1
Multiple Mitochondrial Dysfunctions Syndrome 3

MMDS3

Iba57 Deficiency

Multiple Mitochondrial Dysfunctions Syndrome Type 3

Mitochondrial Dysfunctions, Multiple, Syndrome, Type 3
Multiple Mitochondrial Dysfunctions Syndrome 4

MMDS4

Multiple Mitochondrial Dysfunctions Syndrome Type 4

Mitochondrial Dysfunctions, Multiple, Syndrome, Type 4
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia

Multiple Mitochondrial Dysfunctions Syndrome 2

MMDS2

Bola3 Deficiency

Multiple Mitochondrial Dysfunctions Syndrome Type 2

Mitochondrial Dysfunctions Syndrome, Multiple, Type 2
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
Combined Oxidative Phosphorylation Deficiency 19

COXPD19

Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency

Combined Oxidative Phosphorylation Deficiency, Type 19
Multiple Mitochondrial Dysfunctions Syndrome 1

MMDS1

Mmds

Nfu1 Deficiency

Multiple Mitochondrial Dysfunctions Syndrome Type 1

Mitochondrial Dysfunctions Syndrome, Multiple, Type 1
Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic
Anemia, Sideroblastic, And Spinocerebellar Ataxia

X-Linked Sideroblastic Anemia With Ataxia

ASAT

X-Linked Sideroblastic Anemia And Ataxia

X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia

Anemia, Sideroblastic, With Ataxia

Anemia Sideroblastic And Spinocerebellar Ataxia

Pagon Bird Detter Syndrome

Pagon-Bird-Detter Syndrome

Xlsa-A

X-Linked Sideroblastic Anaemia And Ataxia

X-Linked Sideroblastic Anaemia With Ataxia

Sideroblastic Anemia With Spinocerebellar Ataxia

Xlsa/A

Anemia, Sideroblastic, Spinocerebellar Ataxia

Sideroblastic Anemia And Ataxia

Anemia Sideroblastic, And Spinocerebellar Ataxia
Leukodystrophy

Leukodystrophies
Glycine Encephalopathy

Non-Ketotic Hyperglycinemia

Nonketotic Hyperglycinemia

NKH

GCE

Hyperglycinemia, Nonketotic

Hyperglycinemia Nonketotic

Infantile Glycine Encephalopathy

Encephalopathy, Glycine

Glycine Synthase Deficiency

Nka

Neonatal Glycine Encephalopathy

Classic Glycine Encephalopathy

Neonatal Nkh

Neonatal Non-Ketotic Hyperglycinemia

Infantile Nkh

Infantile Non-Ketotic Hyperglycinemia

Non-Ketotic Hyperglycinaemia

Glycine Cleavage Deficiency

Nonketotic Hyperglycinaemia
Deficiency Anemia

Anemia

Deficiency Anemias

Anaemia
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

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-RS06926 ISCA1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus ISCA1 VGNC VGNC:97468
Mus musculus ISCA1 MGD MGI:1916296
Rattus norvegicus ISCA1 RGD RGD:727792
Bos taurus ISCA1 VGNC VGNC:56975
Macaca mulatta ISCA1 VGNC VGNC:103274
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