2. Gene
  3. PRPF40A - pre-mRNA processing factor 40 homolog A Gene

PRPF40A - pre-mRNA processing factor 40 homolog A Gene

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

中文名称：pre-mRNA 加工因子 40 同系物 A

种属: Homo sapiens

同用名: HYPA; FBP11; FLAF1; FNBP3; HIP10; Prp40; FBP-11; HIP-10; NY-REN-6

基因 ID: 55660 | 基因类型: protein coding

关于 PRPF40A

Cytogenetic location: 2q23.3 Genomic coordinates (GRCh38): 2:152,651,732-152,718,019 (from NCBI)

This gene has 16 transcripts (splice variants), 215 orthologues and 1 paralogue. Ubiquitous expression in bone marrow (RPKM 15.6), testis (RPKM 13.4) and 25 other tissues.

功能概要

启用 RNA 结合活性。参与多个过程，包括细胞骨架组织；调节细胞形状；和胞质分裂的调节。位于核基质和核斑点。 [由基因组资源联盟提供，2022 年 4 月]

Enables RNA binding activity. Involved in several processes, including Cytoskeleton organization; regulation of cell shape; and regulation of cytokinesis. Located in nuclear matrix and nuclear speck. [provided by Alliance of Genome Resources, Apr 2022]

PRPF40A 基因产物(25)

mRNA Protein Name
NM_001354431.4 NP_001341360.1 pre-mRNA-processing factor 40 homolog A isoform 2
NM_001354432.4 NP_001341361.1 pre-mRNA-processing factor 40 homolog A isoform 3
NM_001365596.4 NP_001352525.1 pre-mRNA-processing factor 40 homolog A isoform 4
NM_001365597.4 NP_001352526.1 pre-mRNA-processing factor 40 homolog A isoform 5
NM_001365598.4 NP_001352527.1 pre-mRNA-processing factor 40 homolog A isoform 6
NM_001365599.4 NP_001352528.1 pre-mRNA-processing factor 40 homolog A isoform 7
NM_001365600.4 NP_001352529.1 pre-mRNA-processing factor 40 homolog A isoform 8
NM_001365601.4 NP_001352530.1 pre-mRNA-processing factor 40 homolog A isoform 9
NM_001365602.4 NP_001352531.1 pre-mRNA-processing factor 40 homolog A isoform 10
NM_001365603.4 NP_001352532.1 pre-mRNA-processing factor 40 homolog A isoform 11
NM_001365604.4 NP_001352533.1 pre-mRNA-processing factor 40 homolog A isoform 12
NM_001365605.4 NP_001352534.1 pre-mRNA-processing factor 40 homolog A isoform 12
NM_001395472.1 NP_001382401.1 pre-mRNA-processing factor 40 homolog A isoform 8
NM_001395473.1 NP_001382402.1 pre-mRNA-processing factor 40 homolog A isoform 1
NM_001395475.1 NP_001382404.1 pre-mRNA-processing factor 40 homolog A isoform 13
NM_001395476.1 NP_001382405.1 pre-mRNA-processing factor 40 homolog A isoform 9
NM_001395477.1 NP_001382406.1 pre-mRNA-processing factor 40 homolog A isoform 14
NM_001395478.1 NP_001382407.1 pre-mRNA-processing factor 40 homolog A isoform 14
NM_001395479.1 NP_001382408.1 pre-mRNA-processing factor 40 homolog A isoform 2
NM_001395480.1 NP_001382409.1 pre-mRNA-processing factor 40 homolog A isoform 15
NM_001395481.1 NP_001382410.1 pre-mRNA-processing factor 40 homolog A isoform 11
NM_001395482.1 NP_001382411.1 pre-mRNA-processing factor 40 homolog A isoform 16
NM_001395483.1 NP_001382412.1 pre-mRNA-processing factor 40 homolog A isoform 17
NM_001395488.1 NP_001382417.1 pre-mRNA-processing factor 40 homolog A isoform 18
NM_017892.5 NP_060362.3 pre-mRNA-processing factor 40 homolog A 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
15383276 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cell migration IMP
IMP: 通过突变表型推断
21834987 GOA
involved in cytoskeleton organization IMP
IMP: 通过突变表型推断
21834987 GOA
involved in regulation of cell shape IMP
IMP: 通过突变表型推断
21834987 GOA
involved in regulation of cytokinesis IMP
IMP: 通过突变表型推断
21834987 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nuclear matrix IDA
IDA: 通过直接分析推断
16391387 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

PRPF40A 蛋白结构

WW

WW: WW domain (119 - 144)

WW

WW: WW domain (158 - 185)

FF

FF: FF domain (368 - 417)

FF

FF: FF domain (435 - 483)

FF

FF: FF domain (505 - 557)

FF

FF: FF domain (582 - 637)

FF

FF: FF domain (719 - 769)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 930 a.a.
蛋白主名 其他名称

pre-mRNA-processing factor 40 homolog A

Fas-ligand associated factor 1

PRPF40A 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
Intra PRPF40A O75400 SF3A1 Homo sapiens Q15459
Y2H
22365833
Intra PRPF40A O75400 SF3A1 Homo sapiens Q15459
Anti Tag CoIP
22365833
Intra PRPF40A O75400 HTT Homo sapiens P42858
NMR
17161366
Intra PRPF40A O75400 HTT Homo sapiens P42858
Y2H
17500595
Intra PRPF40A O75400 HTT Homo sapiens P42858
Y2H
15383276
Intra PRPF40A O75400 NKAP Homo sapiens Q8N5F7
Y2H
22365833
Intra PRPF40A O75400 NKAP Homo sapiens Q8N5F7
Anti Tag CoIP
22365833
Intra PRPF40A O75400 SF1 Homo sapiens Q15637
Y2H Fragment Pooling
26420826
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
Rett Syndrome

Atypical Rett Syndrome

RTT

Rett Disorder

Rts

Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use

Rett Syndrome, Preserved Speech Variant

Rett Syndrome, Atypical

Rett'S Disorder

Rett Syndrome Variant

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome

Cerebroatrophic Hyperammonemia

Rett Like Syndrome

Rett'S Syndrome

Atypical Rtt

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use

Rett Syndrome Preserved Speech Variant

Rett Syndrome Zappella Variant

Rett Syndrome, Zappella Variant
Peroneal Nerve Paralysis

Peroneal Nerve Palsy
Borderline Leprosy

Midborderline Leprosy

Borderline Or Dimorphous Leprosy

Leprosy, Borderline
Huntington Disease

Huntington'S Disease

Huntington Chorea

Huntington'S Chorea

HD

Huntington Chronic Progressive Hereditary Chorea

Juvenile Huntington Disease

Chronic Progressive Chorea

Chronic Progressive Hereditary Chorea

Hc - [Huntington Chorea]

Hereditary Chorea

Progressive Hereditary Chorea
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-RS11212 PRPF40A Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus PRPF40A MGD MGI:1860512
Rattus norvegicus PRPF40A RGD RGD:1311401
Bos taurus PRPF40A VGNC VGNC:33379
Canis familiaris PRPF40A VGNC VGNC:45026
Felis catus PRPF40A VGNC VGNC:64375
Macaca mulatta PRPF40A VGNC VGNC:76266
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