1. Gene
  2. MTFR1 - mitochondrial fission regulator 1 Gene

MTFR1 - mitochondrial fission regulator 1 Gene

中文名称:线粒体裂变调节因子 1

种属: Homo sapiens

同用名: CHPPR; FAM54A2

基因 ID: 9650 | 基因类型: protein coding

关于 MTFR1

Cytogenetic location: 8q13.1 Genomic coordinates (GRCh38): 8:65,643,889-65,778,598 (from NCBI)

This gene has 15 transcripts (splice variants), 217 orthologues and 2 paralogues. Ubiquitous expression in kidney (RPKM 10.4), testis (RPKM 8.6) and 25 other tissues.

功能概要

该基因编码一种线粒体蛋白,其特征在于富含多聚脯氨酸的区域。这种蛋白质的鸡同系物促进线粒体裂变,小鼠同系物保护细胞免受氧化应激。在 X 染色体上发现了该基因的相关假基因。[RefSeq 提供,2009 年 3 月]

This gene encodes a mitochondrial protein that is characterized by a poly-proline rich region. A chicken homolog of this protein promotes mitochondrial fission and the mouse homolog protects cells from oxidative stress. A related pseudogene of this gene is found on chromosome X. [provided by RefSeq, Mar 2009]

MTFR1 基因产物(19)

mRNA Protein Name
NM_001145838.2 NP_001139310.1 mitochondrial fission regulator 1 isoform 2
NM_001145839.2 NP_001139311.1 mitochondrial fission regulator 1 isoform 3
NM_001413068.1 NP_001399997.1 mitochondrial fission regulator 1 isoform 1 precursor
NM_001413069.1 NP_001399998.1 mitochondrial fission regulator 1 isoform 1 precursor
NM_001413070.1 NP_001399999.1 mitochondrial fission regulator 1 isoform 6 precursor
NM_001413071.1 NP_001400000.1 mitochondrial fission regulator 1 isoform 1 precursor
NM_001413073.1 NP_001400002.1 mitochondrial fission regulator 1 isoform 4 precursor
NM_001413074.1 NP_001400003.1 mitochondrial fission regulator 1 isoform 4 precursor
NM_001413075.1 NP_001400004.1 mitochondrial fission regulator 1 isoform 4 precursor
NM_001413076.1 NP_001400005.1 mitochondrial fission regulator 1 isoform 4 precursor
NM_001413077.1 NP_001400006.1 mitochondrial fission regulator 1 isoform 4 precursor
NM_001413078.1 NP_001400007.1 mitochondrial fission regulator 1 isoform 1 precursor
NM_001413079.1 NP_001400008.1 mitochondrial fission regulator 1 isoform 5
NM_001413080.1 NP_001400009.1 mitochondrial fission regulator 1 isoform 1 precursor
NM_001413081.1 NP_001400010.1 mitochondrial fission regulator 1 isoform 1 precursor
NM_001413082.1 NP_001400011.1 mitochondrial fission regulator 1 isoform 1 precursor
NM_001413083.1 NP_001400012.1 mitochondrial fission regulator 1 isoform 4 precursor
NM_001413084.1 NP_001400013.1 mitochondrial fission regulator 1 isoform 4 precursor
NM_014637.4 NP_055452.3 mitochondrial fission regulator 1 isoform 1 precursor

MTFR1 蛋白结构

Mito_fiss_reg

Mito_fiss_reg: Mitochondrial fission regulator (20 - 251)

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

mitochondrial fission regulator 1

chondrocyte protein with a poly-proline region

MTFR1 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
MTFR1 Q15390 SYT16 Homo sapiens Q17RD7
Validated Y2H
32296183
种属内
MTFR1 Q15390 DIABLO Homo sapiens Q9NR28
Validated Y2H
32296183
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
Optic Atrophy 3, Autosomal Dominant

Optic Atrophy 3

OPA3

Autosomal Dominant Optic Atrophy And Cataract

Optic Atrophy And Cataract, Autosomal Dominant

Autosomal Dominant Optic Atrophy Type 3

Optic Atrophy 3 With Cataract

Opa3, Autosomal Dominant

Adoac

Optic Atrophy, Cataract, And Neurologic Disorder

Autosomal Dominant Optic Atrophy 3

Optic Atrophy Type 3

Optic Atrophy 3 Autosomal Dominant

Atrophy, Optic, Type 3, Autosomal Dominant

3-Methylglutaconic Aciduria Type 3

Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly

Majewski Syndrome

SRTD6

Srps2a

Short Rib-Polydactyly Syndrome, Majewski Type

Polydactyly With Neonatal Chondrodystrophy, Type Ii

Short Rib-Polydactyly Syndrome Type Iia

Short Rib-Polydactyly Syndrome Type 2

Short Rib-Polydactyly Syndrome Type Ii

Short Rib-Polydactyly Syndrome, Type Ii

Srps, Type Ii

Short Rib-Polydactyly Syndrome, Type Iia

Polydactyly With Neonatal Chondrodystrophy Type 2

Srps Type 2

Short Rib-Polydactyly Syndrome Majewski Type

Polydactyly With Neonatal Chondrodystrophy Type Ii

Short Rib-Polydactyly Syndrome 2a

Srps Type Ii

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
Felis catus MTFR1 VGNC VGNC:81710
Bos taurus MTFR1 VGNC VGNC:31726
Rattus norvegicus MTFR1 RGD RGD:1304936
Mus musculus MTFR1 MGD MGI:1914722
Canis familiaris MTFR1 VGNC VGNC:103693
Macaca mulatta MTFR1 VGNC VGNC:74857