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  2. PTBP3 - polypyrimidine tract binding protein 3 Gene

PTBP3 - polypyrimidine tract binding protein 3 Gene

中文名称:聚嘧啶束结合蛋白 3

种属: Homo sapiens

同用名: ROD1

基因 ID: 9991 | 基因类型: protein coding

关于 PTBP3

Cytogenetic location: 9q32 Genomic coordinates (GRCh38): 9:112,217,715-112,379,882 (from NCBI)

This gene has 8 transcripts (splice variants), 164 orthologues and 5 paralogues. Ubiquitous expression in appendix (RPKM 17.8), lymph node (RPKM 17.7) and 25 other tissues.

功能概要

该基因编码的蛋白质与 RNA 结合,是细胞分化的调节剂。编码的蛋白质在体外优先结合 poly (G) 和 poly (U) 序列。已发现该基因编码不同亚型的几种转录变体。[RefSeq 提供,2011 年 10 月]

The protein encoded by this gene binds RNA and is a regulator of cell differentiation. The encoded protein preferentially binds to poly(G) and poly(U) sequences in vitro. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

PTBP3 基因产物(8)

mRNA Protein Name
NM_001163788.4 NP_001157260.1 polypyrimidine tract-binding protein 3 isoform 2
NM_001163790.2 NP_001157262.1 polypyrimidine tract-binding protein 3 isoform 3
NM_001244896.2 NP_001231825.1 polypyrimidine tract-binding protein 3 isoform 4
NM_001244897.2 NP_001231826.1 polypyrimidine tract-binding protein 3 isoform 5
NM_001244898.1 NP_001231827.1 polypyrimidine tract-binding protein 3 isoform 6
NM_001375918.1 NP_001362847.1 polypyrimidine tract-binding protein 3 isoform 7
NM_001375920.1 NP_001362849.1 polypyrimidine tract-binding protein 3 isoform 8
NM_005156.7 NP_005147.3 polypyrimidine tract-binding protein 3 isoform 1
基因本体论
  • 生物过程
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of RNA splicing IDA
IDA: 通过直接分析推断
18335065 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

PTBP3 蛋白结构

RRM_5

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

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (184 - 248)

RRM_5

RRM_5: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (378 - 430)

(477 - 539)

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  • 552 a.a.
蛋白主名 其他名称

polypyrimidine tract-binding protein 3

ROD1 regulator of differentiation 1

关联疾病

疾病名称 别名
Cardiac Valvular Dysplasia, X-Linked

Xmvd

X-Linked Cardiac Valvular Dysplasia

CVD1

Filamin A-Related X-Linked Myxomatous Valvular Dysplasia

Flna-Related Valvular Dystrophy

Flna-Related X-Linked Myxomatous Valvular Dysplasia

Valvular Heart Disease, Congenital

Myxomatous Valvular Dystrophy, X-Linked

Congenital Valvular Heart Disease

X-Linked Myxomatous Valvular Dystrophy

CVDPX

Ehlers-Danlos Syndrome, Type V, Formerly

Eds5, Formerly

Dystrophie Valvulaire Associee A Flna

Eds 5

Ehlers-Danlos Syndrome, Type 5

Dystrophie Valvulaire Associée À Flna

Filamin-A-Associated Myxomatous Mitral Valve Disease

Filamin-A-Related Myxomatous Mitral Valve Dystrophy

Congenital Valvular Dysplasia

Cvdx

Ehlers-Danlos Syndrome Type 5

Melnick-Needles Syndrome

MNS

Melnick-Needles Osteodysplasty

Osteodysplasty Of Melnick And Needles

Osteochondrodysplasias

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
Macaca mulatta PTBP3 VGNC VGNC:76244
Bos taurus PTBP3 VGNC VGNC:52810
Felis catus PTBP3 VGNC VGNC:64422
Mus musculus PTBP3 MGD MGI:1923334
Rattus norvegicus PTBP3 RGD RGD:621671
Canis familiaris PTBP3 VGNC VGNC:56070