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  2. PUM1 - pumilio RNA binding family member 1 Gene

PUM1 - pumilio RNA binding family member 1 Gene

中文名称:pumilio RNA 结合家族成员 1

种属: Homo sapiens

同用名: PUMH; HSPUM; PUMH1; PUML1; SCA47

基因 ID: 9698 | 基因类型: protein coding

关于 PUM1

Cytogenetic location: 1p35.2 Genomic coordinates (GRCh38): 1:30,931,506-31,065,717 (from NCBI)

This gene has 23 transcripts (splice variants), 221 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 21.8), ovary (RPKM 19.8) and 25 other tissues.

功能概要

该基因编码 PUF 家族的一个成员,进化上保守的 RNA 结合蛋白,与果蝇的 Pumilio 蛋白和秀丽隐杆线虫的 fem-3 mRNA 结合因子蛋白相关。编码的蛋白质包含一个序列特异性 RNA 结合结构域,该结构域由八个重复序列和 N 和 C 末端侧翼区域组成,并通过结合其 3' 非翻译区作为特定 mRNA 的翻译调节剂。编码蛋白在无脊椎动物和低等脊椎动物中的进化保守功能表明,人类蛋白可能参与胚胎发生、细胞发育和分化的翻译调节。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 encodes a member of the PUF family, evolutionarily conserved RNA-binding proteins related to the Pumilio proteins of Drosophila and the fem-3 mRNA binding factor proteins of C. elegans. The encoded protein contains a sequence-specific RNA binding domain comprised of eight repeats and N- and C-terminal flanking regions, and serves as a translational regulator of specific mRNAs by binding to their 3' untranslated regions. The evolutionarily conserved function of the encoded protein in invertebrates and lower vertebrates suggests that the human protein may be involved in translational regulation of embryogenesis, and cell development and differentiation. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

PUM1 基因产物(2)

mRNA Protein Name
NM_001020658.2 NP_001018494.1 pumilio homolog 1 isoform 1
NM_014676.3 NP_055491.1 pumilio homolog 1 isoform 2

PUM1 蛋白结构

PUF

PUF: Pumilio-family RNA binding repeat (849 - 882)

PUF

PUF: Pumilio-family RNA binding repeat (885 - 914)

PUF

PUF: Pumilio-family RNA binding repeat (921 - 951)

PUF

PUF: Pumilio-family RNA binding repeat (957 - 984)

PUF

PUF: Pumilio-family RNA binding repeat (993 - 1026)

PUF

PUF: Pumilio-family RNA binding repeat (1029 - 1061)

PUF

PUF: Pumilio-family RNA binding repeat (1064 - 1093)

PUF

PUF: Pumilio-family RNA binding repeat (1112 - 1139)

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  • 1186 a.a.
蛋白主名 其他名称

pumilio homolog 1

pumilio-1

PUM1 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
PUM1 Q14671 YWHAE Homo sapiens P62258 36931259
种属内
PUM1 Q14671 WFS1 Homo sapiens O76024 32814053
种属内
PUM1 Q14671 WFS1 Homo sapiens O76024 32814053
种属内
PUM1 Q14671 WFS1 Homo sapiens O76024 32814053
种属间: 跨种属相互作用 种属内: 同种属相互作用

PUM1 抗体

目录号 产品名 应用 反应物种
HY-P82036 PUM1 Antibody (YA1781) WB, IHC-F, IHC-P, ICC/IF, IP Human, Mouse

关联疾病

疾病名称 别名
Spinocerebellar Ataxia 47

SCA47

Pum1-Associated Developmental Disability-Ataxia-Seizure Syndrome

Paddas Syndrome

Sca47

Cerebellar Ataxia Type 47

Sca47

Spastic Ataxia

Spax

Ataxia, Spastic

Testis Seminoma

Seminoma Of Testis

Seminoma Testis

Testicular Seminoma Pure

Seminoma

Spinocerebellar Ataxia 1

Spinocerebellar Ataxia Type 1

SCA1

Olivopontocerebellar Atrophy I

Opca1

Opca4

Menzel Type Opca

Schut-Haymaker Type Opca

Spinocerebellar Atrophy I

Opca I

Olivopontocerebellar Atrophy Iv

Opca Iv

Cerebelloparenchymal Disorder I

Cpd1

Olivopontocerebellar Atrophy 1

Cerebelloparenchymal Disorder 1

Olivopontocerebellar Atrophy 4

Spinocerebellar Atrophy 1

Type 1 Spinocerebellar Ataxia

Spinocerebellar Ataxia-1

Ataxia, Spinocerebellar, Type 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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta PUM1 VGNC VGNC:76479
Rattus norvegicus PUM1 RGD RGD:1307190
Canis familiaris PUM1 VGNC VGNC:45206
Bos taurus PUM1 VGNC VGNC:33569
Mus musculus PUM1 MGD MGI:1931749
Felis catus PUM1 VGNC VGNC:64436