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  2. MMS19 - MMS19 homolog, cytosolic iron-sulfur assembly component Gene

MMS19 - MMS19 homolog, cytosolic iron-sulfur assembly component Gene

中文名称:MMS19 同系物,胞质铁硫组装成分

种属: Homo sapiens

同用名: CIAO4; MET18; MMS19L; hMMS19

基因 ID: 64210 | 基因类型: protein coding

关于 MMS19

Cytogenetic location: 10q24.1 Genomic coordinates (GRCh38): 10:97,458,324-97,498,794 (from NCBI)

This gene has 19 transcripts (splice variants) and 201 orthologues. Ubiquitous expression in testis (RPKM 18.2), skin (RPKM 14.7) and 25 other tissues.

功能概要

启用雌激素受体结合活性和转录共激活因子活性。涉及多个过程,包括铁硫簇组装;含核碱基复合代谢过程的正向调控;和通过铁硫簇转移的蛋白质成熟。位于胞质溶胶中;核质;和主轴。 CIA 复合体和 MMXD 复合体的一部分。 [由基因组资源联盟提供,2022 年 4 月]

Enables Estrogen Receptor binding activity and transcription coactivator activity. Involved in several processes, including iron-sulfur cluster assembly; positive regulation of nucleobase-containing compound metabolic process; and protein maturation by iron-sulfur cluster transfer. Located in cytosol; nucleoplasm; and spindle. Part of CIA complex and MMXD complex. [provided by Alliance of Genome Resources, Apr 2022]

MMS19 基因产物(9)

mRNA Protein Name
NM_001289403.2 NP_001276332.1 MMS19 nucleotide excision repair protein homolog isoform 2
NM_001289404.2 NP_001276333.1 MMS19 nucleotide excision repair protein homolog isoform 3
NM_001289405.2 NP_001276334.1 MMS19 nucleotide excision repair protein homolog isoform 1
NM_001330128.2 NP_001317057.1 MMS19 nucleotide excision repair protein homolog isoform 5
NM_001351356.2 NP_001338285.1 MMS19 nucleotide excision repair protein homolog isoform 6
NM_001351357.2 NP_001338286.1 MMS19 nucleotide excision repair protein homolog isoform 7
NM_001351358.2 NP_001338287.1 MMS19 nucleotide excision repair protein homolog isoform 8
NM_001351359.2 NP_001338288.1 MMS19 nucleotide excision repair protein homolog isoform 8
NM_022362.5 NP_071757.4 MMS19 nucleotide excision repair protein homolog isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables nuclear estrogen receptor binding IPI
IPI: 通过物理相互作用推断
11279242 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11279242 GOA
enables transcription coactivator activity IMP
IMP: 通过突变表型推断
11279242 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in protein maturation by iron-sulfur cluster transfer IDA
IDA: 通过直接分析推断
29225034 GOA
involved in protein maturation by iron-sulfur cluster transfer IMP
IMP: 通过突变表型推断
22678361 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of MMXD complex IDA
IDA: 通过直接分析推断
20797633 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
20797633 GOA
part of cytosolic [4Fe-4S] assembly targeting complex IDA
IDA: 通过直接分析推断
22678361 GOA
located in nucleus IDA
IDA: 通过直接分析推断
20797633 GOA
located in spindle IDA
IDA: 通过直接分析推断
20797633 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

MMS19 蛋白结构

MMS19_N

MMS19_N: Dos2-interacting transcription regulator of RNA-Pol-II (50 - 311)

MMS19_C

MMS19_C: RNAPII transcription regulator C-terminal (540 - 963)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1030 a.a.
蛋白主名 其他名称

MMS19 nucleotide excision repair protein homolog

MET18 homolog

MMS19 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
Intra MMS19 Q96T76 CIAO3 Homo sapiens Q9H6Q4
Anti Tag CoIP
23585563
Intra MMS19 Q96T76 RTEL1 Homo sapiens Q9NZ71
Anti Tag CoIP
28178521
Intra MMS19 Q96T76 BRIP1 Homo sapiens Q9BX63
Anti Tag CoIP
23585563
Intra MMS19 Q96T76 ERCC2 Homo sapiens P18074
Anti Tag CoIP
23585563
Intra MMS19 Q96T76 ERCC2 Homo sapiens P18074
Anti Tag CoIP
28178521
Intra MMS19 Q96T76 CIAO1 Homo sapiens O76071
Anti Tag CoIP
28514442
Intra MMS19 Q96T76 CIAO1 Homo sapiens O76071
Anti Tag CoIP
33961781
Intra MMS19 Q96T76 CIAO1 Homo sapiens O76071
Anti Tag CoIP
28178521
Intra MMS19 Q96T76 CIAO1 Homo sapiens O76071
Y2H
21516116
Intra MMS19 Q96T76 CIAO1 Homo sapiens O76071
Anti Tag CoIP
23585563
Intra MMS19 Q96T76 CIAO2B Homo sapiens Q9Y3D0
Anti Tag CoIP
33961781
Intra MMS19 Q96T76 CIAO2B Homo sapiens Q9Y3D0
Anti Tag CoIP
28178521
Intra MMS19 Q96T76 CIAO2B Homo sapiens Q9Y3D0
Anti Tag CoIP
23585563
Intra MMS19 Q96T76 CIAO2B Homo sapiens Q9Y3D0
Anti Tag CoIP
28514442
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
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6

Mitochondrial Dna Deletion Syndrome With Progressive Myopathy

PEOA6

Autosomal Dominant Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 6

Dna2-Related Mitochondrial Dna Deletion Syndrome

Mitochondrial Dna Deletion Syndrome With Limb-Girdle Weakness

Mtdna Deletion Syndrome With Limb-Girdle Weakness

Mtdna Deletion Syndrome With Progressive Myopathy

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 6

Progressive External Ophthalmoplegia, Autosomal Dominant 6

Autosomal Dominant Progressive External Ophthalmoplegia 6

Progressive External Ophthalmoplegia Autosomal Dominant 6

Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 6

Xeroderma Pigmentosum, Complementation Group D

Xeroderma Pigmentosum, Group D

Xpdc

Xeroderma Pigmentosum Iv

XPD

Xeroderma Pigmentosum Group D

Xeroderma Pigmentosum Viii

Xp Group D

Xp Group H

Xp4

Xp8

Xph

Xp, Group D

Xp4 Xeroderma Pigmentosum Viii, Formerly

Xp8, Formerly

Xp, Group H, Formerly

Xph, Formerly

Xeroderma Pigmentosum Complementation Group D

XP-D

Xp-D/Cs

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
Mus musculus MMS19 MGD MGI:1919449
Rattus norvegicus MMS19 RGD RGD:727890
Canis familiaris MMS19 VGNC VGNC:43293
Bos taurus MMS19 VGNC VGNC:31534
Felis catus MMS19 VGNC VGNC:63541