1. Gene
  2. TBC1D25 - TBC1 domain family member 25 Gene

TBC1D25 - TBC1 domain family member 25 Gene

中文名称:TBC1 域家族成员 25

种属: Homo sapiens

同用名: MG81; OATL1

基因 ID: 4943 | 基因类型: protein coding

关于 TBC1D25

Cytogenetic location: Xp11.23 Genomic coordinates (GRCh38): X:48,539,714-48,562,609 (from NCBI)

This gene has 5 transcripts (splice variants), 197 orthologues and 45 paralogues. Ubiquitous expression in testis (RPKM 5.6), brain (RPKM 5.2) and 25 other tissues.

功能概要

该基因编码具有 TBC 结构域的蛋白质,并作为 Rab GTPase 激活蛋白发挥作用。编码的蛋白质参与自噬体与核内体和溶酶体的融合。该基因以前被称为鸟氨酸氨基转移酶样 1,但与鸟氨酸氨基转移酶没有相似性。[RefSeq 提供,2017 年 1 月]

This gene encodes a protein with a TBC domain and functions as a Rab GTPase activating protein. The encoded protein is involved in the fusion of autophagosomes with endosomes and lysosomes. This gene was previously known as ornithine aminotransferase-like 1, but has no similarity to ornithine aminotransferase. [provided by RefSeq, Jan 2017]

TBC1D25 基因产物(5)

mRNA Protein Name
NM_001348262.2 NP_001335191.1 TBC1 domain family member 25 isoform a
NM_001348263.2 NP_001335192.1 TBC1 domain family member 25 isoform b
NM_001348264.2 NP_001335193.1 TBC1 domain family member 25 isoform d
NM_001348265.2 NP_001335194.1 TBC1 domain family member 25 isoform d
NM_002536.4 NP_002527.1 TBC1 domain family member 25 isoform c

TBC1D25 蛋白结构

RabGAP-TBC

RabGAP-TBC: Rab-GTPase-TBC domain (232 - 431)

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

TBC1 domain family member 25

5SN3 snoRNA

关联疾病

疾病名称 别名
Oligospermia
Non-Syndromic X-Linked Intellectual Disability 9

Mrx44

Mrx9

X-Linked Mental Retardation 44

Spindle Cell Synovial Sarcoma

Synovial Sarcoma With Spindle Cell Components

Synovial Sarcoma, Monophasic Fibrous

Synovial Sarcoma, Spindle Cell

Aland Island Eye Disease

AIED

Forsius-Eriksson Type Ocular Albinism

Forsius-Eriksson Syndrome

Autoimmune Inner Ear Disease

Forsius Eriksson Type Ocular Albinism

Aland Islands Eye Disease

Aaland Island Eye Disease

Ocular Albinism, Type Ii

Renal Cell Carcinoma, Papillary, 1

Papillary Renal Cell Carcinoma

Hereditary Papillary Renal Cell Carcinoma

Papillary Renal Cell Carcinoma, Sporadic

Papillary Renal Cell Adenocarcinoma

RCCP

RCCP1

Renal Cell Carcinoma, Papillary

Renal Cell Carcinoma, Papillary, 1, Familial And Somatic

Chromophil Carcinoma Of Kidney

Papillary Kidney Carcinoma

Sporadic Papillary Renal Cell Carcinoma

Chromophil Renal Cell Carcinoma

Papillary Renal Carcinoma, Malignant -

Papillary Renal Cell Carcinoma, Bilateral -

Papillary Renal Cell Carcinoma, Familial -

Papillary Renal Cell Carcinoma, Multiple -

Papillary Renal Cell Carcinoma, Sporadic -

Renal Adenocarcinoma

Chromophil Rcc

Hprcc

Renal Cell Carcinoma Papillary

Chromophilic Renal Cell Carcinoma

Prcc

Carcinoma, Renal Cell, Papillary, Type 1

Type 1 Papillary Renal Cell Carcinoma

Renal Cell Carcinoma

Hereditary Papillary Renal Carcinoma

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
Mus musculus TBC1D25 MGD MGI:2444862
Bos taurus TBC1D25 VGNC VGNC:35639
Felis catus TBC1D25 VGNC VGNC:68610
Canis familiaris TBC1D25 VGNC VGNC:47144
Macaca mulatta TBC1D25 VGNC VGNC:78265
Rattus norvegicus TBC1D25 RGD RGD:1559711