2. Gene
  3. RP9 - RP9 pre-mRNA splicing factor Gene

RP9 - RP9 pre-mRNA splicing factor Gene

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

中文名称：RP9 前体 mRNA 剪接因子

种属: Homo sapiens

同用名: PAP1; PAP-1

基因 ID: 6100 | 基因类型: protein coding

关于 RP9

Cytogenetic location: 7p14.3 Genomic coordinates (GRCh38): 7:33,094,797-33,109,404 (from NCBI)

This gene has 7 transcripts (splice variants), 67 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 5.1), adrenal (RPKM 4.6) and 25 other tissues.

功能概要

由该基因编码的蛋白质可以被原癌基因 PIM1 产物 (一种丝氨酸/苏氨酸蛋白激酶) 结合并磷酸化。这种蛋白质定位于含有剪接因子的核斑点，并在 pre-mRNA 剪接中发挥作用。 CBF1 相互作用蛋白 (CIR) 是 CBF1 的辅抑制因子，也可以与该蛋白结合并影响选择性剪接。该基因的突变导致常染色体显性遗传性视网膜色素变性 9。该基因有一个假基因 (GeneID：441212) ，位于该基因远端约 166 kb 的串联阵列中。[RefSeq 提供，2009 年 9 月]

The protein encoded by this gene can be bound and phosphorylated by the protooncogene PIM1 product, a serine/threonine protein kinase . This protein localizes in nuclear speckles containing the splicing factors, and has a role in pre-mRNA splicing. CBF1-interacting protein (CIR), a corepressor of CBF1, can also bind to this protein and effects alternative splicing. Mutations in this gene result in autosomal dominant retinitis pigmentosa-9. This gene has a pseudogene (GeneID: 441212), which is located in tandem array approximately 166 kb distal to this gene. [provided by RefSeq, Sep 2009]

RP9 基因产物(1)

mRNA Protein Name
NM_203288.2 NP_976033.1 retinitis pigmentosa 9 protein
基因本体论
  • 分子功能
  • 生物过程
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
15652350 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cognition IMP
IMP: 通过突变表型推断
23227193 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
蛋白主名 其他名称

retinitis pigmentosa 9 protein

Pim-1 kinase associated protein

RP9 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
RP9 Q8TA86 MMTAG2 Homo sapiens Q9BU76
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
Retinitis Pigmentosa 9

RP9

Retinitis Pigmentosa-9

Retinitis Pigmentosa, Type 9
Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1
Retinitis
Retinitis Pigmentosa 12

RP12

Retinitis Pigmentosa With Or Without Paraarteriolar Preservation Of Retinal Pigment Epithelium

Rp With Or Without Preserved Paraarteriole Retinal Pigment Epithelium

Rp With Or Without Pprpe

Retinitis Pigmentosa-12
Retinitis Pigmentosa 10

RP10

Retinitis Pigmentosa-10

Retinitis Pigmentosa, Type 10
Retinitis Pigmentosa 37

RP37

Retinitis Pigmentosa-37

Retinitis Pigmentosa, Type 37
Retinitis Pigmentosa 7

Leber Congenital Amaurosis 18

RP7

Retinitis Pigmentosa 7, Digenic Form

Retinitis Pigmentosa 7 And Digenic Form

Retinitis Pigmentosa 7, Digenic

LCA18

Retinitis Pigmentosa 7 Digenic
Retinitis Pigmentosa 19

RP19

Retinitis Pigmentosa-19

Retinitis Pigmentosa, Type 19
Retinitis Pigmentosa 33

RP33

Retinitis Pigmentosa, Type 33
Retinitis Pigmentosa 18

RP18

Retinitis Pigmentosa-18

Retinitis Pigmentosa, Type 18
Retinitis Pigmentosa 17

RP17

Retinitis Pigmentosa-17

Retinitis Pigmentosa, Type 17
Retinitis Pigmentosa 31

RP31

Retinitis Pigmentosa-31

Retinitis Pigmentosa, Type 31
Bardet-Biedl Syndrome 9

BBS9

Bardet-Biedl Syndrome, Type 9
Cone-Rod Dystrophy 20

CORD20

Dystrophy, Cone-Rod, Type 20
Retinitis Pigmentosa 28

RP28

Retinitis Pigmentosa, Type 28
Retinitis Pigmentosa 27

RP27

Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type

Retinal Degeneration Autosomal Recessive Clumped Pigment Type

RDCP

Clumped Pigmentary Retinal Degeneration

Retinitis Pigmentosa, Type 27
Retinitis Pigmentosa 6

RP6

Retinitis Pigmentosa, X-Linked Recessive, 6

Retinitis Pigmentosa-6, X-Linked Recessive
Retinitis Pigmentosa 3

RP3

Retinitis Pigmentosa 15

Rp15

Choroidoretinal Degeneration With Retinal Reflex In Heterozygous Women

Cone-Rod Degeneration, X-Linked

Retinitis Pigmentosa Type 15

X-Linked Cone-Rod Degeneration

X-Linked Retinitis Pigmentosa 3

Xlrp3

Xlrp-3

Retinitis Pigmentosa-3

Retinitis Pigmentosa, Type 3
Retinitis Pigmentosa 24

RP24

Retinitis Pigmentosa-24
Trichohepatoenteric Syndrome 1

Trichohepatoenteric Syndrome

Syndromic Diarrhea

Tricho-Hepato-Enteric Syndrome

Sd/The

Syndromic Diarrhea/Tricho-Hepato-Enteric Syndrome

THES1

Phenotypic Diarrhea

Thes

Phenotypic Diarrhea Of Infancy

Diarrhea, Syndromic

Diarrhea, Fatal Infantile, With Trichorrhexis Nodosa

Intractable Diarrhea With Phenotypic Anomalies

Syndromatic Diarrhea

Fatal Infantile Diarrhea With Trichorrhexis Nodosa
Trichohepatoenteric Syndrome 2

THES2
Gyrate Atrophy Of Choroid And Retina

Gyrate Atrophy

Ornithine Aminotransferase Deficiency

HOGA

Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina

Oat Deficiency

Okt Deficiency

Hyperornithinemia

Ornithine Keto Acid Aminotransferase Deficiency

Ornithine-Delta-Aminotransferase Deficiency

Gyrate Atrophy Of The Choroid And Retina

GACR

Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia

Gyrate Atrophy Of The Retina

Ornithinemia With Gyrate Atrophy

Ornithinemia

Fuchs Atrophia Gyrata Chorioideae Et Retinae

Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome

Gyrate Atrophy Of The Choroid And/Or Retina

Girate Atrophy Of The Retina

Ornithine Ketoacid Aminotransferase Deficiency

Atrophy, Gyrate, Of Choroid And Retina
Vitreoretinochoroidopathy

Autosomal Dominant Vitreoretinochoroidopathy

Advirc

Vitreoretinochoroidopathy With Microcornea, Glaucoma, And Cataract

Vitreoretinochoroidopathy, Autosomal Dominant, With Nanophthalmos

Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 2

Vitreoretinochoroidopathy Dominant

VRCP

Vitreoretinochoroidopathy, Autosomal Dominant

Vrcp Autosomal Dominant

Vitreoretinochoroidopathy Autosomal Dominant With Nanophthalmos, Microcornea, Rod-Cone Dystrophy, Cataract And Posterior Staphyloma

Vitreoretinochoroidopathy With Microcornea-Glaucoma-Cataract
Inhalation Anthrax

Pulmonary Anthrax

Respiratory Anthrax

Inhalational Anthrax

Wool-Sorters' Disease

Woolsorters' Disease

Inhalation Anthrax Disease

Respiratory Anthrax Disease
Hereditary Retinal Dystrophy

Hereditary Retinal Dystrophies
Retinitis Pigmentosa 11

RP11

Retinitis Pigmentosa-11

Retinitis Pigmentosa, Type 11
Eye Degenerative Disease
Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary

Congenital Essential Nyctalopia

Oguchi Disease

Blindness, Night, Stationary, Congenital
Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal
Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber
Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy
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-RS12141 RP9 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 RP9 VGNC VGNC:84753
Mus musculus RP9 MGD MGI:2157166
Bos taurus RP9 VGNC VGNC:34093
Rattus norvegicus RP9 RGD RGD:1559759
Canis familiaris RP9 VGNC VGNC:45701
Others RP9 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