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  2. PRPF4 - pre-mRNA processing factor 4 Gene

PRPF4 - pre-mRNA processing factor 4 Gene

中文名称:pre-mRNA 加工因子 4

种属: Homo sapiens

同用名: PRP4; RP70; HPRP4; Prp4p; HPRP4P; SNRNP60

基因 ID: 9128 | 基因类型: protein coding

关于 PRPF4

Cytogenetic location: 9q32 Genomic coordinates (GRCh38): 9:113,275,658-113,292,905 (from NCBI)

This gene has 3 transcripts (splice variants), 207 orthologues and is associated with 3 phenotypes. Ubiquitous expression in appendix (RPKM 8.9), kidney (RPKM 8.4) and 25 other tissues.

功能概要

由该基因编码的蛋白质是结合 U4、U5 和 U6 小核 RNA 的异聚复合物的一部分,并参与 pre-mRNA 剪接。编码的蛋白质也是有丝分裂检查点蛋白和人类卵巢癌化疗耐药的调节剂。已发现该基因编码不同亚型的几种转录变体。[RefSeq 提供,2016 年 4 月]

The protein encoded by this gene is part of a heteromeric complex that binds U4, U5, and U6 small nuclear RNAs and is involved in pre-mRNA splicing. The encoded protein also is a mitotic checkpoint protein and a regulator of chemoresistance in human ovarian Cancer. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]

PRPF4 基因产物(4)

mRNA Protein Name
NM_001244926.2 NP_001231855.1 U4/U6 small nuclear ribonucleoprotein Prp4 isoform 2
NM_001322266.2 NP_001309195.1 U4/U6 small nuclear ribonucleoprotein Prp4 isoform 3
NM_001322267.2 NP_001309196.1 U4/U6 small nuclear ribonucleoprotein Prp4 isoform 3
NM_004697.5 NP_004688.2 U4/U6 small nuclear ribonucleoprotein Prp4 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 protein binding IPI
IPI: 通过物理相互作用推断
9570313 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mRNA splicing, via spliceosome IDA
IDA: 通过直接分析推断
28781166 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Cajal body IDA
IDA: 通过直接分析推断
15257298 GOA
part of U2-type precatalytic spliceosome IDA
IDA: 通过直接分析推断
28781166 GOA
part of U4/U6 snRNP IDA
IDA: 通过直接分析推断
9570313 GOA
part of U4/U6 x U5 tri-snRNP complex IDA
IDA: 通过直接分析推断
23793891 GOA
part of U4/U6 x U5 tri-snRNP complex IPI
IPI: 通过物理相互作用推断
30975767 GOA
located in nuclear speck IDA
IDA: 通过直接分析推断
25383878 GOA
located in nucleus IDA
IDA: 通过直接分析推断
28781166 GOA
part of spliceosomal snRNP complex IDA
IDA: 通过直接分析推断
25383878 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

PRPF4 蛋白结构

PRP4

PRP4: pre-mRNA processing factor 4 (PRP4) like (108 - 137)

WD40

WD40: WD domain, G-beta repeat (229 - 259)

WD40

WD40: WD domain, G-beta repeat (264 - 309)

WD40

WD40: WD domain, G-beta repeat (314 - 351)

WD40

WD40: WD domain, G-beta repeat (362 - 393)

WD40

WD40: WD domain, G-beta repeat (397 - 435)

WD40

WD40: WD domain, G-beta repeat (440 - 477)

WD40

WD40: WD domain, G-beta repeat (482 - 519)

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

U4/U6 small nuclear ribonucleoprotein Prp4

PRP4 homolog

PRPF4 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
PRPF4 O43172 PPIH Homo sapiens O43447
Anti Tag CoIP
19615732
种属内
PRPF4 O43172 PPIH Homo sapiens O43447
Anti Tag CoIP
33961781
种属内
PRPF4 O43172 PPIH Homo sapiens O43447
Y2H
16723661
种属内
PRPF4 O43172 PPIH Homo sapiens O43447
BRET
29997244
种属内
PRPF4 O43172 GPKOW Homo sapiens Q92917
Y2H
22365833
种属间: 跨种属相互作用 种属内: 同种属相互作用

PRPF4 抗体

目录号 产品名 应用 反应物种
HY-P82012 PRPF4 Antibody (YA1757) WB, IP Human, Mouse

关联疾病

疾病名称 别名
Retinitis Pigmentosa 70

RP70

Retinitis Pigmentosa, Type 70

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 Pigmentosa 33

RP33

Retinitis Pigmentosa, Type 33

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

Night Blindness, Congenital Stationary, Autosomal Dominant 1

Congenital Stationary Night Blindness Autosomal Dominant 1

CSNBAD1

Rhodopsin-Related Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary, Rhodopsin-Related

Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 1

Microcephalic Osteodysplastic Primordial Dwarfism, Type I

Taybi-Linder Syndrome

Brachymelic Primordial Dwarfism

Cephaloskeletal Dysplasia

Low-Birth-Weight Dwarfism With Skeletal Dysplasia

Microcephalic Osteodysplastic Primordial Dwarfism Type I

Osteodysplastic Primordial Dwarfism Type I

Primordial Microcephalic Dwarfism, Crachami Type

Osteodysplastic Primordial Dwarfism, Type 1

MOPD1

Mopd I

Mopd

Osteodysplastic Primordial Dwarfism, Type I

Tals

Microcephalic Osteodysplastic Primordial Dwarfism Type 1

Mopd 1

Microcephalic Osteodysplastic Primordial Dwarfism Types 1 And 3

Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii

Mopd Types I And Iii

Microcephalic Osteodysplastic Primordial Dwarfism, Taybi-Linder Type

Primordial Microcephalic Dwarfism Crachami Type

Dwarfism, Primordial, Osteodysplastic, Microcephalic, Type 1

Mandibulofacial Dysostosis, Guion-Almeida Type

Mandibulofacial Dysostosis With Microcephaly

Mandibulofacial Dysostosis-Microcephaly Syndrome

MFDGA

MFDM

Mfdm Syndrome

Growth And Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, And Cleft Palate

Growth Delay - Intellectual Disability - Mandibulofacial Dysostosis - Microcephaly - Cleft Palate

Growth Delay-Intellectual Disability-Mandibulofacial Dysostosis-Microcephaly-Cleft Palate Syndrome

Dysostosis, Mandibulofacial, Guion-Almeida Type

Burn-Mckeown Syndrome

Choanal Atresia-Hearing Loss-Cardiac Defects-Craniofacial Dysmorphism Syndrome

Oculootofacial Dysplasia

BMKS

Oofd

Bilateral Choanal Atresia, Cardiac Defects, Deafness, And Dysmorphic Appearance

Choanal Atresia - Deafness - Cardiac Defects - Dysmorphism Syndrome

Choanal Atresia Deafness Cardiac Defects Dysmorphism

Oculo-Oto-Facial Dysplasia

Ovarian Cancer

Ovarian Carcinoma

Ovarian Neoplasm

Malignant Tumour Of Ovary

Cancer Of The Ovary

Epithelial Ovarian Cancer

Neoplasm Of Ovary

Ovarian Neoplasms

Ovarian Cancers

Malignant Neoplasm Of Ovary

Primary Malignant Neoplasm Of Ovary

Ovarian Cancer, Somatic

Malignant Ovarian Tumor

Ovary Neoplasm

Primary Ovarian Cancer

Tumor Of The Ovary

Malignant Neoplasm Of The Ovary

Malignant Tumor Of The Ovary

Ovarian Malignant Tumor

OC

Ovarian Carcinomas

Cancer, Ovarian

Cancer Of Ovary

Ovary Cancer

Ca Ovary

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

直系同源

种属 基因名 来源 基因 ID
Felis catus PRPF4 VGNC VGNC:64374
Bos taurus PRPF4 VGNC VGNC:33378
Mus musculus PRPF4 MGD MGI:1917302
Macaca mulatta PRPF4 VGNC VGNC:76278
Canis familiaris PRPF4 VGNC VGNC:45025
Rattus norvegicus PRPF4 RGD RGD:1311303
Others PRPF4 NCBI