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  2. MTX1 - metaxin 1 Gene

MTX1 - metaxin 1 Gene

中文名称:metaxin 1

种属: Homo sapiens

同用名: MTX; MTXN

基因 ID: 4580 | 基因类型: protein coding

关于 MTX1

Cytogenetic location: 1q22 Genomic coordinates (GRCh38): 1:155,208,695-155,213,839 (from NCBI)

This gene has 7 transcripts (splice variants), 210 orthologues and 3 paralogues. Ubiquitous expression in testis (RPKM 23.1), bone marrow (RPKM 13.8) and 25 other tissues.

功能概要

预测参与线粒体组织。 MIB 复合体和 SAM 复合体的一部分。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to be involved in mitochondrion organization. Part of MIB complex and SAM complex. [provided by Alliance of Genome Resources, Apr 2022]

MTX1 基因产物(2)

mRNA Protein Name
NM_002455.5 NP_002446.3 metaxin-1 isoform 1
NM_198883.3 NP_942584.2 metaxin-1 isoform 2
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
31644573 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of SAM complex IPI
IPI: 通过物理相互作用推断
17510655 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

MTX1 蛋白结构

Tom37

Tom37: Outer mitochondrial membrane transport complex protein (156 - 224)

Tom37_C

Tom37_C: Tom37 C-terminal domain (244 - 313)

GST_C_2

GST_C_2: Glutathione S-transferase, C-terminal domain (319 - 364)

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

metaxin-1

mitochondrial outer membrane import complex protein 1

关联疾病

疾病名称 别名
Gaucher'S Disease

Gaucher Disease

Kerasin Thesaurismosis

Glucocerebrosidase Deficiency

Glucosylceramidase Deficiency

Cerebroside Lipidosis Syndrome

Acid Beta-Glucosidase Deficiency

Glucosylceramide Beta-Glucosidase Deficiency

Acute Cerebral Gaucher Disease

Gaucher Splenomegaly

Glucocerebrosidosis

Glucosyl Cerebroside Lipidosis

Kerasin Lipoidosis

Lipoid Histiocytosis

Glocucerebrosidase Deficiency

Sphingolipidosis 1

Gaucher Syndrome

Gauchers Disease

Gd

Glucosylceramide Lipidosis

Kerasin Histiocytosis

Gaucher Disease, Type 1

Gaucher Disease, Type 2

Non-Syndromic X-Linked Intellectual Disability 1

Mrx1

Mrx18

Mrx78

X-Linked Mental Retardation 1/78

X-Linked Mental Retardation 18

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability

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 MTX1 VGNC VGNC:53621
Bos taurus MTX1 VGNC VGNC:55630
Mus musculus MTX1 MGD MGI:103025
Rattus norvegicus MTX1 RGD RGD:1559791