2. Gene
  3. PTBP1 - polypyrimidine tract binding protein 1 Gene

PTBP1 - polypyrimidine tract binding protein 1 Gene

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

中文名称：聚嘧啶束结合蛋白 1

种属: Homo sapiens

同用名: PTB; PTB2; PTB3; PTB4; pPTB; HNRPI; PTB-1; PTB-T; HNRNPI; HNRNP-I

基因 ID: 5725 | 基因类型: protein coding

关于 PTBP1

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:797,452-812,312 (from NCBI)

This gene has 24 transcripts (splice variants), 281 orthologues and 5 paralogues. Ubiquitous expression in placenta (RPKM 42.6), bone marrow (RPKM 39.6) and 25 other tissues.

功能概要

该基因属于普遍表达的异质核核糖核蛋白 (hnRNP) 亚家族。 hnRNPs 是 RNA 结合蛋白，它们与异质核 RNA (hnRNA) 复合。这些蛋白质与细胞核中的前体 mRNA 相关，并且似乎影响前体 mRNA 加工以及 mRNA 代谢和运输的其他方面。虽然所有的 hnRNP 都存在于细胞核中，但有些似乎在细胞核和细胞质之间穿梭。 hnRNP 蛋白具有独特的核酸结合特性。由该基因编码的蛋白质具有四个重复的结合 RNA 的准 RNA 识别基序 (RRM) 结构域。这种蛋白质与需要 pre-mRNA 剪接的内含子多嘧啶束结合，并通过蛋白质降解泛素-蛋白酶体途径发挥作用。它还可以促进 U2 snRNP 与 pre-mRNA 的结合。这种蛋白质位于核质中，也可在核仁周围结构中检测到。已经描述了编码不同亚型的选择性剪接转录物变体。[RefSeq 提供，2008 年 7 月]

This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA-binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has four repeats of quasi-RNA recognition motif (RRM) domains that bind RNAs. This protein binds to the intronic polypyrimidine tracts that requires pre-mRNA splicing and acts via the protein degradation ubiquitin-proteasome pathway. It may also promote the binding of U2 snRNP to pre-mRNAs. This protein is localized in the nucleoplasm and it is also detected in the perinucleolar structure. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

PTBP1 基因产物(4)

mRNA Protein Name
NM_001411140.1 NP_001398069.1 polypyrimidine tract-binding protein 1 isoform d
NM_002819.5 NP_002810.1 polypyrimidine tract-binding protein 1 isoform a
NM_031990.4 NP_114367.1 polypyrimidine tract-binding protein 1 isoform b
NM_031991.4 NP_114368.1 polypyrimidine tract-binding protein 1 isoform c
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 pre-mRNA binding IDA
IDA: 通过直接分析推断
16260624 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10653975 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in IRES-dependent viral translational initiation IDA
IDA: 通过直接分析推断
17947529 GOA
involved in IRES-dependent viral translational initiation IMP
IMP: 通过突变表型推断
21518806 GOA
involved in negative regulation of RNA splicing IDA
IDA: 通过直接分析推断
18335065 GOA
involved in negative regulation of mRNA splicing, via spliceosome IDA
IDA: 通过直接分析推断
15009664 GOA
involved in negative regulation of muscle cell differentiation IDA
IDA: 通过直接分析推断
21518792 GOA
involved in positive regulation of calcineurin-NFAT signaling cascade IMP
IMP: 通过突变表型推断
23853098 GOA
involved in regulation of alternative mRNA splicing, via spliceosome IDA
IDA: 通过直接分析推断
16260624 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

PTBP1 蛋白结构

RRM_5

RRM_5: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (78 - 131)

RRM_5

RRM_5: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (200 - 258)

RRM_5

RRM_5: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (357 - 409)

(456 - 518)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 531 a.a.
蛋白主名 其他名称

polypyrimidine tract-binding protein 1

57 kDa RNA-binding protein PPTB-1

PTBP1 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 PTBP1 P26599 CFTR Homo sapiens P13569
Phage Display
39009827
Intra PTBP1 P26599 SFPQ Homo sapiens P23246
Anti Bait CoIP
11514619
Intra PTBP1 P26599 SFPQ Homo sapiens P23246
Anti Bait CoIP
15975576
Intra PTBP1 P26599 SNRPA Homo sapiens P09012
Y2H
22365833
Intra PTBP1 P26599 SNRPA Homo sapiens P09012
Y2H Array
25416956
Intra PTBP1 P26599 SNRPA Homo sapiens P09012
Y2H Pooling
16189514
Intra PTBP1 P26599 SNRPA Homo sapiens P09012
Y2H Array
31515488
Intra PTBP1 P26599 SNRPA Homo sapiens P09012
Y2H Prey Pooling
25416956
Intra PTBP1 P26599 RBM10 Homo sapiens P98175
Y2H
22365833
Intra PTBP1 P26599 QKI Homo sapiens Q96PU8
Y2H Array
16713569
Cross PTBP1 P26599 hnrnpab.L Crosspus laevis Q7ZYE9
Pull Down
16373488
Cross PTBP1 P26599 P29991-PRO_0000037940 Dengue virus type 2 P29991-PRO_0000037940
Y2H
21911577
Cross PTBP1 P26599 P29991-PRO_0000308465 Dengue virus type 2 P29991-PRO_0000308465
Y2H
21911577
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
Mouth Disease

Mouth Diseases

Mouth Disorders
Frontotemporal Dementia

Pallidopontonigral Degeneration

Frontotemporal Lobar Degeneration

Semantic Dementia

FTD

Frontotemporal Lobe Dementia

Multiple System Tauopathy With Presenile Dementia

Dementia, Frontotemporal

Frontotemporal Dementia With Parkinsonism

Mstd

Frontotemporal Lobar Degeneration With Tau Inclusions

Ftld With Tau Inclusions

Dementia, Frontotemporal, With Parkinsonism

Fldem

Ftdp17

Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

Ddpac

Wilhelmsen-Lynch Disease

Wld

Ppnd

Dementia, Frontotemporal, With Or Without Parkinsonism

Semantic Primary Progressive Aphasia

Semantic Variant Ppa

Wilhemsen-Lynch Disease

Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

Ftd-Als

Ftld

Pick Complex

Pick Disease Of The Brain

Frontotemporal Dementia With Parkinsonism-17

Grn-Related Frontotemporal Dementia

Frontotemporal Dementia With Motor Neuron Disease

Dementia In Fronto-Temporal Lobar Degeneration

Ftd - [Frontotemporal Dementia]

Temple Dementia

Frontal Lobe Dementia
Thrombophilia, X-Linked, Due To Factor Ix Defect

THPH8

Deep Venous Thrombosis, Protection Against

X-Linked Thrombophilia Due To Factor Ix Defect

Thrombophilia, X-Linked, Due To Factor 9 Defect

Thrombophilia 8, X-Linked, Due To Factor Ix Defect
T-Cell Acute Lymphoblastic Leukemia

T-Cell Leukemia

Acute T Cell Leukemia

Precursor T Lymphoblastic Leukemia

Precursor T-Lymphoblastic Lymphoma/Leukemia

T Acute Lymphoblastic Leukemia

T-Cell Acute Lymphocytic Leukaemia

T-Cell Lymphoblastic Leukemia/Lymphoma

Leukemia T-Cell

Leukemia, T-Cell

Leukemia, Acute, Lymphoblastic, T-Cell

Leukemia, T-Cell Acute Lymphoblastic

Leukemia, Acute T-Cell

Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

Precursor T-Cell Lymphoblastic Lymphoma

Precursor T Cell Lymphoblastic Leukemia/Lymphoblastic Lymphoma
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
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 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-167832 PT109 Inhibitor / 否
HY-RS11351 PTBP1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus PTBP1 VGNC VGNC:69133
Macaca mulatta PTBP1 VGNC VGNC:76462
Bos taurus PTBP1 VGNC VGNC:52809
Canis familiaris PTBP1 VGNC VGNC:54984
Mus musculus PTBP1 MGD MGI:97791
Rattus norvegicus PTBP1 RGD RGD:62047
Others PTBP1 NCBI
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