2. Gene
  3. USB1 - U6 snRNA biogenesis phosphodiesterase 1 Gene

USB1 - U6 snRNA biogenesis phosphodiesterase 1 Gene

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

中文名称：U6 snRNA 生物合成磷酸二酯酶 1

种属: Homo sapiens

同用名: PN; Mpn1; HVSL1; hMpn1; hUsb1; C16orf57

基因 ID: 79650 | 基因类型: protein coding

关于 USB1

Cytogenetic location: 16q21 Genomic coordinates (GRCh38): 16:57,999,603-58,021,618 (from NCBI)

This gene has 21 transcripts (splice variants), 195 orthologues and is associated with 4 phenotypes. Ubiquitous expression in appendix (RPKM 7.3), bone marrow (RPKM 6.0) and 25 other tissues.

功能概要

该基因编码一种具有多个保守结构域的蛋白质，但其确切功能尚不清楚。该基因的突变与伴有中性粒细胞减少症 (PN) 的皮肤异色有关，表明与 RECQL4 基因突变引起的 Rothmund-Thomson 综合征 (RTS) 表型重叠。据信，该基因产物通过 SMAD4 蛋白与 RECQL4 蛋白相互作用，解释了 PN 和 RTS 之间的部分临床重叠。已经注意到该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供，2011 年 3 月]

This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in this gene are associated with poikiloderma with neutropenia (PN), which shows phenotypic overlap with Rothmund-Thomson syndrome (RTS) caused by mutations in the RECQL4 gene. It is believed that this gene product interacts with RECQL4 protein via SMAD4 proteins, explaining the partial clinical overlap between PN and RTS. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]

USB1 基因产物(5)

mRNA Protein Name
NM_001195302.2 NP_001182231.1 U6 snRNA phosphodiesterase 1 isoform 2
NM_001204911.2 NP_001191840.1 U6 snRNA phosphodiesterase 1 isoform 3
NM_001330568.2 NP_001317497.1 U6 snRNA phosphodiesterase 1 isoform 4
NM_001330569.2 NP_001317498.1 U6 snRNA phosphodiesterase 1 isoform 5
NM_024598.4 NP_078874.2 U6 snRNA phosphodiesterase 1 isoform 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 3'-5'-RNA exonuclease activity IDA
IDA: 通过直接分析推断
23190533 GOA
enables poly(U)-specific exoribonuclease activity, producing 3' uridine cyclic phosphate ends IDA
IDA: 通过直接分析推断
23022480 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
23022480 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in RNA splicing IMP
IMP: 通过突变表型推断
22899009 GOA
involved in U6 snRNA 3'-end processing IDA
IDA: 通过直接分析推断
23190533 GOA
involved in U6 snRNA 3'-end processing IMP
IMP: 通过突变表型推断
22899009 GOA
involved in snRNA 3'-end processing IMP
IMP: 通过突变表型推断
26213367 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
22899009 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

USB1 蛋白结构

HVSL

HVSL: Uncharacterised conserved protein (44 - 264)

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

U6 snRNA phosphodiesterase 1

3'-5' RNA exonuclease USB1

关联疾病

疾病名称 别名
Poikiloderma With Neutropenia

Poikiloderma With Neutropenia, Clericuzio Type

PN

Clericuzio Type Poikiloderma With Neutropenia

Poikiloderma With Neutropenia, Clericuzio-Type

Clericuzio-Type Poikiloderma With Neutropenia

Poikiloderma With Neutropenia Clericuzio Type

Immune-Deficient Poikiloderma

Clericuzio-Type Poikiloderma Neutropenia Syndrome

Poikiloderma With Neutropenia Clericuzio-Type

Poikiloderma, With Neutropenia
Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant

Dc

Dkc

Zinsser-Engman-Cole Syndrome

Dyskeratosis Congenita, Autosomal Dominant

Autosomal Dominant Dyskeratosis Congenita

Dkca

Dyskeratosis Congenita Scoggins Type

Zinsser-Cole-Engman Syndrome

X-Linked Dyskeratosis Congenita

Hoyeraal-Hreidarsson Syndrome
Neutropenia

Leukopenia
Calcinosis

Pathologic Calcification

Pathologically Calcified Structure
Rothmund-Thomson Syndrome, Type 2

Rothmund-Thomson Syndrome

Rts

RTS2

Poikiloderma Of Rothmund-Thomson

Rothmund-Thomson Syndrome Type 2

Congenital Poikiloderma

Poikiloderma Congenitale

Poikiloderma Atrophicans And Cataract

Poikiloderma Congenitale Of Rothmund-Thomson

Poikiloderma Of Rothmund-Thomson Type 2

Rothmund-Thomson Syndrome 2

Erythrokeratodermia Variabilis
Severe Congenital Neutropenia 5

Congenital Neutropenia-Myelofibrosis-Nephromegaly Syndrome

Congenital Neutropenia-Bone Marrow Fibrosis-Nephromegaly Syndrome

Vps45 Deficiency

Scn5
Nail Disorder, Nonsyndromic Congenital, 1

Nonsyndromic Congenital Nail Disorder 1

Twenty-Nail Dystrophy

Claw-Shaped Nails

Nail Disorder, Nonsyndromic Congenital, 10

Onycholysis

NDNC1

Onychauxis, Hyponychia, And Onycholysis

Nonsyndromic Congenital Nail Disorder 10

Idiopathic Trachyonychia

Twenty Nail Dystrophy

Ndnc10

Onychodystrophy Totalis, Isolated

Nail Disorder, Nonsyndromic Congenital, 10, Formerly

Ndnc10, Formerly

Autosomal Dominant Nail Dysplasia

Nail Disorder, Nonsyndromic Congenital 1

Onychodystrophy Totalis

Sandpaper Nails

Trachyonychia

Nail Disorder, Non-Syndromic Congenital, 1

Nail Disorder, Non-Syndromic Congenital, 10

Onychauxis Hyponychia And Onycholysis

Nail Disorder, Nonsyndromic Congenital, Type 10

Detachment Of Nail

Separation Of Nail Plate
Severe Congenital Neutropenia 7

Autosomal Recessive Severe Congenital Neutropenia Due To Csf3r Deficiency

Scn7
Cyclic Neutropenia

Cyclic Hematopoiesis

Cyclical Neutropenia

Neutropenia Cyclic

Cyclic Hematopoesis

Neutropenia, Cyclic

Cyclic Agranulocytosis

Neutropenia, Periodic

Cyclic Leucopenia

Periodic Neutropenia

Cyclic Haematopoiesis

CH

Hematopoiesis, Cyclic

Neutropenia, Cyclical
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-RS15511 USB1 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 USB1 VGNC VGNC:79543
Mus musculus USB1 MGD MGI:2142454
Rattus norvegicus USB1 RGD RGD:1305215
Canis familiaris USB1 VGNC VGNC:53480
Bos taurus USB1 VGNC VGNC:36703
Felis catus USB1 VGNC VGNC:66858
Others USB1 NCBI
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