2. Gene
  3. RHBDD1 - rhomboid domain containing 1 Gene

RHBDD1 - rhomboid domain containing 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：含菱形域 1

种属: Homo sapiens

同用名: RRP4; RHBDL4

基因 ID: 84236 | 基因类型: protein coding

关于 RHBDD1

Cytogenetic location: 2q36.3 Genomic coordinates (GRCh38): 2:226,800,159-226,999,210 (from NCBI)

This gene has 15 transcripts (splice variants), 216 orthologues and 2 paralogues. Ubiquitous expression in testis (RPKM 3.8), thyroid (RPKM 3.6) and 25 other tissues.

功能概要

启用丝氨酸型内肽酶活性。参与多个过程，包括细胞对未折叠蛋白的反应；膜蛋白水解；和蛋白质分解代谢过程的正调节。位于内质网。 [由基因组资源联盟提供，2022 年 4 月]

Enables serine-type endopeptidase activity. Involved in several processes, including cellular response to unfolded protein; membrane protein proteolysis; and positive regulation of protein catabolic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]

RHBDD1 基因产物(5)

mRNA Protein Name
NM_001167608.3 NP_001161080.1 rhomboid-related protein 4
NM_001349069.2 NP_001335998.1 rhomboid-related protein 4
NM_001349071.2 NP_001336000.1 rhomboid-related protein 4
NM_001349072.2 NP_001336001.1 rhomboid-related protein 4
NM_032276.5 NP_115652.2 rhomboid-related protein 4
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 endopeptidase activity IDA
IDA: 通过直接分析推断
22624035 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
18953687 GOA
enables serine-type endopeptidase activity IDA
IDA: 通过直接分析推断
18953687 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to unfolded protein IEP
IEP: 通过表达模式推断
22795130 GOA
involved in membrane protein proteolysis IDA
IDA: 通过直接分析推断
18953687 GOA
involved in negative regulation of apoptotic process IDA
IDA: 通过直接分析推断
18953687 GOA
involved in negative regulation of apoptotic process IMP
IMP: 通过突变表型推断
22624035 GOA
involved in positive regulation of protein catabolic process IDA
IDA: 通过直接分析推断
18953687 GOA
involved in positive regulation of protein catabolic process IMP
IMP: 通过突变表型推断
22624035 GOA
involved in positive regulation of secretion IMP
IMP: 通过突变表型推断
22624035 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
22795130 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

RHBDD1 蛋白结构

Rhomboid

Rhomboid: Rhomboid family (61 - 206)

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

rhomboid-related protein 4

rhomboid domain-containing protein 1

RHBDD1 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
RHBDD1 Q8TEB9 CMTM5 Homo sapiens Q96DZ9-2
Validated Y2H
32296183
种属内
RHBDD1 Q8TEB9 CGRRF1 Homo sapiens Q99675
Validated Y2H
32296183
种属内
RHBDD1 Q8TEB9 RNF5 Homo sapiens Q99942
Validated Y2H
32296183
种属内
RHBDD1 Q8TEB9 RNF5 Homo sapiens Q99942
Y2H Array
32296183
种属内
RHBDD1 Q8TEB9 RNF5 Homo sapiens Q99942
Y2H Prey Pooling
32296183
种属内
RHBDD1 Q8TEB9 PLEKHB2 Homo sapiens Q96CS7
Validated Y2H
32296183
种属内
RHBDD1 Q8TEB9 PLEKHB2 Homo sapiens Q96CS7
Y2H Array
32296183
种属内
RHBDD1 Q8TEB9 PLEKHB2 Homo sapiens Q96CS7
Y2H Prey Pooling
32296183
种属内
RHBDD1 Q8TEB9 CREB3L1 Homo sapiens Q96BA8
Y2H Prey Pooling
32296183
种属内
RHBDD1 Q8TEB9 CREB3L1 Homo sapiens Q96BA8
Validated Y2H
32296183
种属内
RHBDD1 Q8TEB9 CREB3L1 Homo sapiens Q96BA8
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
Benign Mammary Dysplasia
Facial Clefting, Oblique, 1

Oculomaxillofacial Dysostosis

Oculomaxillofacial Dysplasia With Oblique Facial Clefts

OBLFC1

Oblique Facial Clefting 1

Tessier Number 4 Facial Cleft

Oblique Facial Cleft

Orbitofacial Cleft

Oblique Facial Clefts

Richieri Costa Gorlin Syndrome

Richieri-Costa-Gorlin Syndrome

Facial Clefting, Oblique, Type 1
Teebi Hypertelorism Syndrome 1

Teebi Hypertelorism Syndrome

Brachycephalofrontonasal Dysplasia

Hypertelorism, Teebi Type

TBHS1

Tbhs

Chromosome 22q11.2 Deletion Syndrome, Opitz Phenotype

Opitz Gbbb Syndrome Type Ii

Specc1l-Related Hypertelorism Syndrome

Opitz Gbbb Syndrome, Type Ii, Formerly

Gbbb2, Formerly

Opitz Bbbg Syndrome, Type Ii, Formerly

Bbbg2, Formerly

Opitz-G Syndrome, Type Ii, Formerly

Ogs2, Formerly

Opitz Bbb Syndrome, Type Ii, Formerly

Hypertelorism-Hypospadias Syndrome, Formerly

Hypertelorism With Esophageal Abnormality And Hypospadias, Formerly

Opitz Oculogenitolaryngeal Syndrome, Type Ii, Formerly

Opitz-Frias Syndrome, Formerly

Teebi Hypertelorism Syndrome-1

Craniofrontonasal Dysplasia, Teebi Type

Bbb Syndrome

Gbbb Syndrome

G Syndrome

Hypertelorism-Hypospadias Syndrome

Hypertelorism With Esophageal Abnormality And Hypospadias

Hypospadias-Dysphagia Syndrome

Ogs2

Opitz Bbbg Syndrome

Opitz-Frias Syndrome

Opitz Gbbb Syndrome, Autosomal Dominant

Opitz-G Syndrome, Type Ii

Opitz Oculogenitolaryngeal Syndrome, Type Ii

Opitz Gbbb Syndrome, Type Ii

Teebi Syndrome

Opitz-G Syndrome, Type 2

Opitz Gbbb Syndrome, X-Linked

Digeorge Syndrome
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS11931 RHBDD1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus RHBDD1 VGNC VGNC:64602
Mus musculus RHBDD1 MGD MGI:1924117
Macaca mulatta RHBDD1 VGNC VGNC:76803
Bos taurus RHBDD1 VGNC VGNC:33930
Rattus norvegicus RHBDD1 RGD RGD:1306477
Canis familiaris RHBDD1 VGNC VGNC:45543
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