1. Gene
  2. TOMM34 - translocase of outer mitochondrial membrane 34 Gene

TOMM34 - translocase of outer mitochondrial membrane 34 Gene

中文名称:线粒体外膜转位酶 34

种属: Homo sapiens

同用名: TOM34; URCC3; HTOM34P

基因 ID: 10953 | 基因类型: protein coding

关于 TOMM34

Cytogenetic location: 20q13.12 Genomic coordinates (GRCh38): 20:44,942,130-44,960,397 (from NCBI)

This gene has 1 transcript (splice variant), 122 orthologues and 18 paralogues. Broad expression in testis (RPKM 58.9), adrenal (RPKM 15.3) and 22 other tissues.

功能概要

该基因编码的蛋白质参与将前体蛋白质导入线粒体。编码的蛋白质具有类似伴侣的活性,结合未折叠蛋白质的成熟部分并帮助它们进入线粒体。这种蛋白质存在于细胞质中,有时与线粒体外膜相关,具有弱的 ATP 酶活性并包含 6 个 TPR 重复序列。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene is involved in the import of precursor proteins into mitochondria. The encoded protein has a chaperone-like activity, binding the mature portion of unfolded proteins and aiding their import into mitochondria. This protein, which is found in the cytoplasm and sometimes associated with the outer mitochondrial membrane, has a weak ATPase activity and contains 6 TPR repeats. [provided by RefSeq, Jul 2008]

TOMM34 基因产物(1)

mRNA Protein Name
NM_006809.5 NP_006800.2 mitochondrial import receptor subunit TOM34

TOMM34 蛋白结构

TPR_11

TPR_11: TPR repeat (10 - 82)

TPR_1

TPR_1: Tetratricopeptide repeat (88 - 117)

TPR_11

TPR_11: TPR repeat (191 - 257)

TPR_2

TPR_2: Tetratricopeptide repeat (262 - 294)

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

mitochondrial import receptor subunit TOM34

hTom34

关联疾病

疾病名称 别名
Combined Oxidative Phosphorylation Deficiency 3

Fatal Mitochondrial Disease Due To Combined Oxidative Phosphorylation Defect Type 3

COXPD3

Encephalomyopathy, Respiratory Failure, And Lactic Acidosis

Concentric Cardiomyopathy, Hypotonia, And Lactic Acidosis

Fatal Mitochondrial Disease Due To Coxpd3

Concentric Cardiomyopathy Hypotonia And Lactic Acidosis

Encephalomyopathy Respiratory Failure And Lactic Acidosis

Encephalomyopathy With Respiratory Failure And Lactic Acidosis

Combined Oxidative Phosphorylation Deficiency, Type 3

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
Macaca mulatta TOMM34 VGNC VGNC:97837
Bos taurus TOMM34 VGNC VGNC:49135
Mus musculus TOMM34 MGD MGI:1914395
Rattus norvegicus TOMM34 RGD RGD:1309029
Felis catus TOMM34 VGNC VGNC:81251
Canis familiaris TOMM34 VGNC VGNC:49628