RHBDF1 - rhomboid 5 homolog 1 Gene

中文名称：菱形 5 同系物 1

种属: Homo sapiens

同用名: Dist1; hDist1; C16orf8; EGFR-RS; gene-89; gene-90

基因 ID: 64285 | 基因类型: protein coding

关于 RHBDF1

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:58,059-76,360 (from NCBI)

This gene has 11 transcripts (splice variants), 213 orthologues and 5 paralogues. Ubiquitous expression in placenta (RPKM 12.8), prostate (RPKM 9.9) and 24 other tissues.

功能概要

预测可启用生长因子结合活性和丝氨酸型内肽酶活性。参与多个过程，包括蛋白质分泌的负调节；调节表皮生长因子受体信号通路；和调节蛋白酶体蛋白质分解代谢过程。位于高尔基体膜和内质网膜。 [由基因组资源联盟提供，2022 年 4 月]

Predicted to enable growth factor binding activity and serine-type endopeptidase activity. Involved in several processes, including negative regulation of protein secretion; regulation of epidermal growth factor receptor signaling pathway; and regulation of proteasomal protein catabolic process. Located in Golgi membrane and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]

RHBDF1 基因产物(1)

mRNA	Protein	Name
NM_022450.5	NP_071895.3	inactive rhomboid protein 1

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 protein binding	IPI IPI: 通过物理相互作用推断	29897333	GOA
NOT enables serine-type endopeptidase activity	IDA IDA: 通过直接分析推断	21439629	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cell migration	IMP IMP: 通过突变表型推断	18832597	GOA
involved in cell population proliferation	IMP IMP: 通过突变表型推断	18832597	GOA
involved in negative regulation of protein secretion	IDA IDA: 通过直接分析推断	21439629	GOA
involved in regulation of epidermal growth factor receptor signaling pathway	IMP IMP: 通过突变表型推断	18832597	GOA
involved in regulation of proteasomal protein catabolic process	IDA IDA: 通过直接分析推断	21439629	GOA
involved in regulation of protein secretion	IMP IMP: 通过突变表型推断	18832597	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in Golgi membrane	IDA IDA: 通过直接分析推断	18832597	GOA
located in endoplasmic reticulum membrane	IDA IDA: 通过直接分析推断	18832597	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

RHBDF1 蛋白结构

Rhomboid_SP

Rhomboid

0
200
400
600
800
855 a.a.

蛋白主名

其他名称

inactive rhomboid protein 1

epidermal growth factor receptor, related sequence

RHBDF1 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	RHBDF1	Q96CC6	LHX3	Homo sapiens	Q9UBR4-2	Y2H Prey Pooling	32296183
种属内	RHBDF1	Q96CC6	LHX3	Homo sapiens	Q9UBR4-2	Validated Y2H	32296183
种属内	RHBDF1	Q96CC6	LHX3	Homo sapiens	Q9UBR4-2	Y2H Array	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

Tylosis With Esophageal Cancer

Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	TOC
Keratosis Palmaris Et Plantaris With Esophageal Cancer	Bennion-Patterson Syndrome
Howell-Evans Syndrome	Keratosis Palmoplantaris-Esophageal Carcinoma Syndrome
Palmoplantar Hyperkeratosis-Esophageal Carcinoma Syndrome	Tylosis-Oesophageal Carcinoma Syndrome
Palmoplantar Keratoderma With Esophageal Cancer	Howel-Evans Syndrome
Keratosis Palmoplantaris With Esophageal Cancer	Tylosis - Oesophageal Carcinoma
Howel-Evans' Syndrome

Colon Small Cell Carcinoma

Colonic Small Cell Carcinoma

Colon Small Cell Neuroendocrine Carcinoma

Palmoplantar Keratoderma, Nonepidermolytic

Nonepidermolytic Palmoplantar Keratoderma	NEPPK
Tylosis	Unna-Thost Syndrome
Keratoderma, Palmoplantar, Diffuse	Ppkne
Keratoderma, Nonepidermolytic Palmoplantar	Diffuse Nonepidermolytic Palmomplantar Keratoderma
Thost-Unna Syndrome	Non-Epidermolytic Palmoplantar Keratoderma
Autosomal Dominant Diffuse Palmoplantar Keratoderma, Norrbotten Type	Diffuse Palmoplantar Keratoderma, Bothnian Type
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Krt1-Related Diffuse Neppk
Keratoderma, Palmoplantar, Non-Epidermolytic	Nonepidermolytic Unna-Thost Disease
Non-Epidermolytic Unna-Thost Disease	Keratoderma, Palmoplantar, Nonepidermolytic
Hyperkeratosis

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS11934	RHBDF1 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	RHBDF1	VGNC	VGNC:45546
Macaca mulatta	RHBDF1	VGNC	VGNC:99583
Felis catus	RHBDF1	VGNC	VGNC:82357
Rattus norvegicus	RHBDF1	RGD	RGD:1305075
Bos taurus	RHBDF1	VGNC	VGNC:33933
Mus musculus	RHBDF1	MGD	MGI:104328

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。	站点地图隐私声明
沪ICP备15051369号-4 上海工商沪公网安备31011502019417 沪(浦)应急管危经许[2021]201709(QFYS) 营业执照（三证合一）
Copyright © 2013-2025 MedChemExpress. All Rights Reserved.

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

RHBDF1 - rhomboid 5 homolog 1 Gene

关于 RHBDF1

功能概要

RHBDF1 基因产物(1)

RHBDF1 蛋白结构

RHBDF1 蛋白互作信息

关联疾病

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

姓名
邮箱 *

Sorry, but the email address you supplied was invalid.

RHBDF1 - rhomboid 5 homolog 1 Gene

关于 RHBDF1

功能概要

RHBDF1 基因产物(1)

RHBDF1 蛋白结构

RHBDF1 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z