1. Gene
  2. RHOH - ras homolog family member H Gene

RHOH - ras homolog family member H Gene

中文名称:ras 同系物家族成员 H

种属: Homo sapiens

同用名: TTF; ARHH

基因 ID: 399 | 基因类型: protein coding

关于 RHOH

Cytogenetic location: 4p14 Genomic coordinates (GRCh38): 4:40,191,080-40,246,967 (from NCBI)

This gene has 17 transcripts (splice variants), 184 orthologues, 22 paralogues and is associated with 53 phenotypes. Biased expression in lymph node (RPKM 20.2), bone marrow (RPKM 10.8) and 8 other tissues.

功能概要

由该基因编码的蛋白质是三磷酸鸟苷 (GTP) 代谢酶 Ras 超家族的成员。编码的蛋白质在造血细胞中表达,在那里它作为细胞生长和存活的负调节剂发挥作用。该基因可能在白血病和淋巴瘤中过度突变或错误表达。非霍奇金淋巴瘤中的染色体易位发生在该基因座和 3 号染色体上的 B 细胞 CLL/淋巴瘤 6 (BCL6) 之间,导致融合转录物的产生。 5' 非翻译区的可变剪接导致编码相同蛋白质的多个转录变体。[RefSeq 提供,2013 年 5 月]

The protein encoded by this gene is a member of the Ras superfamily of guanosine triphosphate (GTP)-metabolizing Enzymes. The encoded protein is expressed in hematopoietic cells, where it functions as a negative regulator of cell growth and survival. This gene may be hypermutated or misexpressed in leukemias and lymphomas. Chromosomal translocations in non-Hodgkin's lymphoma occur between this locus and B-cell CLL/lymphoma 6 (BCL6) on chromosome 3, leading to the production of fusion transcripts. Alternative splicing in the 5' untranslated region results in multiple transcript variants that encode the same protein. [provided by RefSeq, May 2013]

RHOH 基因产物(12)

mRNA Protein Name
NM_001278359.2 NP_001265288.1 rho-related GTP-binding protein RhoH precursor
NM_001278360.2 NP_001265289.1 rho-related GTP-binding protein RhoH precursor
NM_001278361.2 NP_001265290.1 rho-related GTP-binding protein RhoH precursor
NM_001278362.2 NP_001265291.1 rho-related GTP-binding protein RhoH precursor
NM_001278363.2 NP_001265292.1 rho-related GTP-binding protein RhoH precursor
NM_001278364.2 NP_001265293.1 rho-related GTP-binding protein RhoH precursor
NM_001278365.2 NP_001265294.1 rho-related GTP-binding protein RhoH precursor
NM_001278366.2 NP_001265295.1 rho-related GTP-binding protein RhoH precursor
NM_001278367.2 NP_001265296.1 rho-related GTP-binding protein RhoH precursor
NM_001278368.2 NP_001265297.1 rho-related GTP-binding protein RhoH precursor
NM_001278369.2 NP_001265298.1 rho-related GTP-binding protein RhoH precursor
NM_004310.5 NP_004301.1 rho-related GTP-binding protein RhoH precursor
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 GTP binding IDA
IDA: 通过直接分析推断
11809807 GOA
enables kinase inhibitor activity IDA
IDA: 通过直接分析推断
11809807 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11809807 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of canonical NF-kappaB signal transduction IDA
IDA: 通过直接分析推断
11809807 GOA
involved in positive regulation of T cell differentiation IMP
IMP: 通过突变表型推断
22850876 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
11809807 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

RHOH 蛋白结构

Ras

Ras: Ras family (6 - 170)

  • 0
  • 100
  • 191 a.a.
蛋白主名 其他名称

rho-related GTP-binding protein RhoH

GTP-binding protein TTF

RHOH 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 RHOH Q15669 IQUB Homo sapiens Q8NA54
Validated Y2H
32296183
Intra RHOH Q15669 BANP Homo sapiens Q8N9N5-2
Validated Y2H
32296183
Intra RHOH Q15669 SORL1 Homo sapiens Q92673
Validated Y2H
32296183
Intra RHOH Q15669 PLEKHA7 Homo sapiens Q6IQ23-2
Validated Y2H
32296183
Intra RHOH Q15669 XPNPEP1 Homo sapiens Q9NQW7-3
Validated Y2H
32296183
Intra RHOH Q15669 KANK2 Homo sapiens Q63ZY3
Validated Y2H
32296183
Intra RHOH Q15669 FAM90A1 Homo sapiens Q86YD7
Validated Y2H
32296183
Intra RHOH Q15669 TCF19 Homo sapiens Q9Y242
Validated Y2H
32296183
Intra RHOH Q15669 SCNM1 Homo sapiens Q9BWG6
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
Epidermodysplasia Verruciformis 4

Epidermodysplasia Verruciformis, Susceptibility To, 4

EV4

T-Cell Immunodeficiency With Epidermodysplasia Verruciformis

T-Cell Immunodeficiency Due To Rhoh Deficiency

{Epidermodysplasia Verruciformis, Susceptibility To, 4}

Lymphoma

Lymphoid Cancer

Lymphomas

Lymphoid Cancers

Lymphoid Neoplasm

Lymphoma Nos

Nhl - [Non-Hodgkin Lymphoma]

Non-Hodgkin Lymphoma

Non-Hodgkin Lymphoma, Nos

Non-Hodgkin Malignant Lymphoma Nos

Pityriasis Versicolor

Tinea Versicolor

Infection By Pityrosporum Furfur

Skin Carcinoma

Skin Cancer

Carcinoma Of Skin

Ca - Skin Cancer

Cancer Of Skin

Malignant Neoplasm Of Skin

Melanoma And Non-Melanoma Skin Cancer

Skin Cancers

Cancer, Skin

Epidermodysplasia Verruciformis 1

Epidermodysplasia Verruciformis

Epidermodysplasia Verruciformis, Susceptibility To, 1

Lutz-Lewandowsky Epidermodysplasia Verruciformis

EV1

Lewandowsky-Lutz Syndrome

Ev

Superficial Mycosis

Piedra

Steroid-Modified Tinea Infection

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 RHOH VGNC VGNC:68162
Canis familiaris RHOH VGNC VGNC:45561
Macaca mulatta RHOH VGNC VGNC:76884
Mus musculus RHOH MGD MGI:1921984
Bos taurus RHOH VGNC VGNC:33950
Rattus norvegicus RHOH RGD RGD:1307623