2. Gene
  3. NFS1 - NFS1 cysteine desulfurase Gene

NFS1 - NFS1 cysteine desulfurase Gene

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

中文名称：NFS1 半胱氨酸脱硫酶

种属: Homo sapiens

同用名: IscS; NIFS; COXPD52; HUSSY-08

基因 ID: 9054 | 基因类型: protein coding

关于 NFS1

Cytogenetic location: 20q11.22 Genomic coordinates (GRCh38): 20:35,668,052-35,699,352 (from NCBI)

This gene has 14 transcripts (splice variants), 207 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in kidney (RPKM 16.1), testis (RPKM 12.1) and 25 other tissues.

功能概要

许多细胞酶的功能都需要铁硫簇。由该基因编码的蛋白质通过从半胱氨酸中去除硫，并在此过程中产生丙氨酸，为这些簇提供无机硫。该基因使用交替的框内翻译起始位点来生成线粒体形式和细胞质/核形式。替代起始位点的选择由细胞溶质 pH 值决定。编码的蛋白质属于磷酸吡哆醛依赖性氨基转移酶的 V 类家族。已经描述了选择性剪接的转录物变体。[RefSeq 提供，2010 年 11 月]

Iron-sulfur clusters are required for the function of many cellular Enzymes. The proteins encoded by this gene supply inorganic sulfur to these clusters by removing the sulfur from cysteine, creating alanine in the process. This gene uses alternate in-frame translation initiation sites to generate mitochondrial forms and cytoplasmic/nuclear forms. Selection of the alternative initiation sites is determined by the cytosolic pH. The encoded proteins belong to the class-V family of pyridoxal phosphate-dependent aminotransferases. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2010]

NFS1 基因产物(2)

mRNA Protein Name
NM_001198989.2 NP_001185918.1 cysteine desulfurase, mitochondrial isoform b precursor
NM_021100.5 NP_066923.3 cysteine desulfurase, mitochondrial isoform a precursor

NFS1 蛋白结构

Aminotran_5

Aminotran_5: Aminotransferase class-V (60 - 421)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 457 a.a.
蛋白主名 其他名称

cysteine desulfurase, mitochondrial

NFS1 nitrogen fixation 1 homolog

关联疾病

疾病名称 别名
Combined Oxidative Phosphorylation Deficiency 52

COXPD52
Combined Oxidative Phosphorylation Deficiency 19

COXPD19

Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency

Combined Oxidative Phosphorylation Deficiency, Type 19
Combined Oxidative Phosphorylation Deficiency
Autosomal Recessive Cerebellar Ataxia

Arca
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
Hereditary Ataxia

Sca

Spinocerebellar Ataxia

Ataxias Hereditary

Ataxias, Hereditary
Cerebellar Disease

Cerebellar Diseases

Cerebellar Dysfunction

Cerebellar Abnormality

Cerebellar Disorders
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 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS09267 NFS1 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS21391 Nfs1 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS27910 Nfs1 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus NFS1 RGD RGD:620912
Felis catus NFS1 VGNC VGNC:99687
Canis familiaris NFS1 VGNC VGNC:99670
Bos taurus NFS1 VGNC VGNC:99675
Mus musculus NFS1 MGD MGI:1316706
Macaca mulatta NFS1 VGNC VGNC:97105
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