1. Gene
  2. CCS - copper chaperone for superoxide dismutase Gene

CCS - copper chaperone for superoxide dismutase Gene

中文名称:超氧化物歧化酶铜伴侣

种属: Homo sapiens

基因 ID: 9973 | 基因类型: protein coding

关于 CCS

Cytogenetic location: 11q13.2 Genomic coordinates (GRCh38): 11:66,593,185-66,606,019 (from NCBI)

This gene has 9 transcripts (splice variants), 192 orthologues and 2 paralogues. Ubiquitous expression in liver (RPKM 18.8), spleen (RPKM 17.6) and 25 other tissues.

功能概要

超氧化物歧化酶的铜伴侣特异性地将 Cu 递送至铜/锌超氧化物歧化酶,并可能通过直接插入 Cu 辅助因子激活铜/锌超氧化物歧化酶。[RefSeq 提供,2008 年 7 月]

Copper chaperone for superoxide dismutase specifically delivers Cu to copper/zinc superoxide dismutase and may activate copper/zinc superoxide dismutase through direct insertion of the Cu cofactor. [provided by RefSeq, Jul 2008]

CCS 基因产物(1)

mRNA Protein Name
NM_005125.2 NP_005116.1 copper chaperone for superoxide dismutase
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 copper ion binding IDA
IDA: 通过直接分析推断
9726962 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9726962 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
9726962 GOA
located in nucleus IDA
IDA: 通过直接分析推断
9726962 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

CCS 蛋白结构

HMA

HMA: Heavy-metal-associated domain (16 - 70)

Sod_Cu

Sod_Cu: Copper/zinc superoxide dismutase (SODC) (91 - 230)

  • 0
  • 100
  • 200
  • 274 a.a.
蛋白主名 其他名称

copper chaperone for superoxide dismutase

superoxide dismutase copper chaperone

CCS 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
CCS O14618 XIAP Homo sapiens P98170
Anti Tag CoIP
22508683
种属内
CCS O14618 SOD1 Homo sapiens P00441
Anti Tag CoIP
22508683
种属内
CCS O14618 SOD1 Homo sapiens P00441
Pull Down
12968035
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
Wilson Disease

Hepatolenticular Degeneration

WD

Wilson'S Disease

WND

Westphal-Strumpell Syndrome

Copper Storage Disease

Cerebral Pseudosclerosis

Westphal Pseudosclerosis

Hepatolenticular Degeneration Syndrome

Copper Retention

Hepatocerebral Degeneration

Kinnier-Wilson Disease

Neurohepatic Degeneration

Progressive Hepatolenticular Degeneration

Lenticular Degenerative Disease

Wilson'S Syndrome

Lenticular Syndrome

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Menkes Disease

Copper Transport Disease

Menkes Syndrome

MNK

Kinky Hair Disease

Steely Hair Disease

Menkes Kinky-Hair Syndrome

Mk

Steely Hair Syndrome

Menkea Syndrome

Md

Menkes Kinky Hair Syndrome

Hypocupremia, Congenital

Kinky Hair Syndrome

X-Linked Copper Deficiency

Menkes Kinky Hair Disease

Aceruloplasminemia

Cerebellar Ataxia

Hypoceruloplasminemia

Hemosiderosis, Systemic, Due To Aceruloplasminemia

Familial Apoceruloplasmin Deficiency

Hereditary Ceruloplasmin Deficiency

Deficiency Of Ferroxidase

Hypoceruloplasminemia, Hereditary

Ceruloplasmin Deficiency

Systemic Hemosiderosis Due To Aceruloplasminemia

ACERULOP

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

直系同源

种属 基因名 来源 基因 ID
Canis familiaris CCS VGNC VGNC:38919
Bos taurus CCS VGNC VGNC:26991
Mus musculus CCS MGD MGI:1333783
Rattus norvegicus CCS RGD RGD:620403
Felis catus CCS VGNC VGNC:81914
Macaca mulatta CCS VGNC VGNC:70744
Others CCS NCBI