2. Gene
  3. UFSP2 - UFM1 specific peptidase 2 Gene

UFSP2 - UFM1 specific peptidase 2 Gene

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

中文名称：UFM1 特异性肽酶 2

种属: Homo sapiens

同用名: BHD; DEE106; SEMDDR; C4orf20

基因 ID: 55325 | 基因类型: protein coding

关于 UFSP2

Cytogenetic location: 4q35.1 Genomic coordinates (GRCh38): 4:185,399,537-185,425,964 (from NCBI)

This gene has 9 transcripts (splice variants), 200 orthologues, 1 paralogue and is associated with 5 phenotypes. Ubiquitous expression in testis (RPKM 18.7), thyroid (RPKM 17.7) and 25 other tissues.

功能概要

该基因编码一种高度保守的半胱氨酸蛋白酶。该蛋白从泛素折叠修饰符 1 (一种泛素样翻译后修饰蛋白) 中切割两个 C 端残基。编码蛋白激活泛素折叠修饰剂 1 会暴露 C 末端甘氨酸残基，该残基允许与其他蛋白相互作用并转移至其靶蛋白。该基因的一个等位基因变体与 Beukes 髋关节发育不良有关。可变剪接导致多个转录本变体。[RefSeq 提供，2016 年 9 月]

This gene encodes a highly conserved cysteine protease. The protein cleaves two C-terminal residues from ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein. Activation of ubiquitin-fold modifier 1 by the encoded protein exposes a C-terminal glycine residue that allows interaction with Other proteins and transfer to its target protein. An allelic variant of this gene has been associated with Beukes hip dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

UFSP2 基因产物(1)

mRNA Protein Name
NM_018359.5 NP_060829.2 ufm1-specific protease 2
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 deUFMylase activity IDA
IDA: 通过直接分析推断
31595041 GOA
enables deUFMylase activity IMP
IMP: 通过突变表型推断
25219498 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25219498 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of proteolysis involved in protein catabolic process IDA
IDA: 通过直接分析推断
36543799 GOA
involved in proteolysis IMP
IMP: 通过突变表型推断
25219498 GOA
involved in regulation of intracellular estrogen receptor signaling pathway IMP
IMP: 通过突变表型推断
25219498 GOA
involved in rescue of stalled ribosome IDA
IDA: 通过直接分析推断
38383785 GOA
involved in ribosome disassembly IDA
IDA: 通过直接分析推断
38383785 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in endoplasmic reticulum IDA
IDA: 通过直接分析推断
35926457 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

UFSP2 蛋白结构

Peptidase_C78

Peptidase_C78: Peptidase family C78 (278 - 461)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 469 a.a.
蛋白主名 其他名称

ufm1-specific protease 2

UFSP2 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
UFSP2 Q9NUQ7 APOBEC1 Homo sapiens P41238
Y2H Prey Pooling
32296183
种属内
UFSP2 Q9NUQ7 APOBEC1 Homo sapiens P41238
Y2H Array
32296183
种属内
UFSP2 Q9NUQ7 LMO1 Homo sapiens P25800
Y2H Array
32296183
种属内
UFSP2 Q9NUQ7 LMO1 Homo sapiens P25800
Y2H Prey Pooling
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
Beukes Hip Dysplasia

Hip Dysplasia, Beukes Type

Beukes Familial Hip Dysplasia

BFHD

Cilliers-Beighton Syndrome

Osteoarthropathy, Premature Degenerative, Of Hip

Premature Degenerative Osteoarthropathy Of The Hip

BHD

Beukes Type Hip Dysplasia

Hip Dysplasia Beukes Type

Premature Degenerative Osteoarthropathy

Dysplasia, Hip, Beukes Type
Spondyloepimetaphyseal Dysplasia, Di Rocco Type

SEMDDR
Developmental And Epileptic Encephalopathy 106

DEE106
Pontocerebellar Hypoplasia, Type 4

Pontocerebellar Hypoplasia Type 4

PCH4

Olivopontocerebellar Hypoplasia

Encephalopathy Fatal Infantile With Olivopontocerebellar Hypoplasia

Encephalopathy, Fatal Infantile, With Olivopontocerebellar Hypoplasia

Fatal Infantile Encephalopathy With Olivopontocerebellar Hypoplasia

Pontocerebellar Hypoplasia 4

Young Mckeever Squier Syndrome

Hypoplasia, Pontocerebellar, Type 4
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid
Spondyloepimetaphyseal Dysplasia

Dysplasia, Spondyloepimetaphyseal
Meier-Gorlin Syndrome 8

MGORS8
Deafness, Autosomal Dominant 24

DFNA24

Autosomal Dominant Nonsyndromic Deafness 24

Autosomal Dominant Deafness 24
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
Deafness, Autosomal Dominant 70

DFNA70

Autosomal Dominant Nonsyndromic Deafness 70

Autosomal Dominant Deafness 70

Deafness, Autosomal Dominant, 70
Developmental And Epileptic Encephalopathy 44

DEE44

Epileptic Encephalopathy, Early Infantile, 44

Eiee44

Developmental And Epileptic Encephalopathy, 44

Early Infantile Epileptic Encephalopathy 44

Encephalopathy, Epileptic, Early Infantile, Type 44
Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder
Schwartz-Jampel Syndrome, Type 1

Schwartz-Jampel Syndrome

SJS1

Schwartz-Jampel-Aberfeld Syndrome

Sjs

Chondrodystrophic Myotonia

Schwartz-Jampel Syndrome Type 1

Sja Syndrome

Aberfeld Syndrome

Burton Skeletal Dysplasia

Burton Syndrome

Catel-Hempel Syndrome

Myotonic Chondrodystrophy

Myotonic Myopathy, Dwarfism, Chondrodystrophy, Ocular And Facial Anomalies

Osteochondromuscular Dystrophy

Myotonic Myopathy, Dwarfism, Chondrodystrophy, And Ocular And Facial Abnormalities

Schwartz-Jampel Syndrome 1

Dysostosis Enchondralis Metaepiphysaria, Catel-Hempel Type

Catel-Hempel Type Dysostosis Enchondralis Metaepiphysaria

Schwartz Jampel Syndrome

Myotonic Myopathy Dwarfism Chondrodystrophy And Ocular And Facial Abnormalities

Schwartz Jampel Aberfeld Syndrome

Congenital Blepharophimosis, Myopia, Myopathy Syndrome

Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
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-RS15418 UFSP2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta UFSP2 VGNC VGNC:107119
Felis catus UFSP2 VGNC VGNC:107074
Mus musculus UFSP2 MGD MGI:1913679
Rattus norvegicus UFSP2 RGD RGD:1311161
Canis familiaris UFSP2 VGNC VGNC:51837
Bos taurus UFSP2 VGNC VGNC:107014
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z