1. Gene
  2. PES1 - pescadillo ribosomal biogenesis factor 1 Gene

PES1 - pescadillo ribosomal biogenesis factor 1 Gene

中文名称:pescadillo 核糖体生物发生因子 1

种属: Homo sapiens

同用名: PES; NOP7

基因 ID: 23481 | 基因类型: protein coding

关于 PES1

Cytogenetic location: 22q12.2 Genomic coordinates (GRCh38): 22:30,576,625-30,607,013 (from NCBI)

This gene has 13 transcripts (splice variants) and 198 orthologues. Ubiquitous expression in testis (RPKM 9.0), ovary (RPKM 7.8) and 25 other tissues.

功能概要

该基因编码的核蛋白含有乳腺癌相关基因 1 (BRCA1) C 端相互作用结构域。编码的蛋白质与 BOP1 和 WDR12 相互作用形成 PeBoW 复合物,该复合物通过前 rRNA 加工和 60S 核糖体亚基成熟在细胞增殖中起关键作用。该基因的表达可能在乳腺癌增殖和致瘤性中发挥重要作用。已经观察到该基因编码多种亚型的可变剪接转录物变体。该基因的假基因位于 4 号染色体的长臂和 9 号染色体的短臂上。[RefSeq 提供,2011 年 8 月]

This gene encodes a nuclear protein that contains a breast Cancer associated gene 1 (BRCA1) C-terminal interaction domain. The encoded protein interacts with BOP1 and WDR12 to form the PeBoW complex, which plays a critical role in cell proliferation via pre-rRNA processing and 60S ribosomal subunit maturation. Expression of this gene may play an important role in breast Cancer proliferation and tumorigenicity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the long arm of chromosome 4 and the short arm of chromosome 9. [provided by RefSeq, Aug 2011]

PES1 基因产物(4)

mRNA Protein Name
NM_001243225.2 NP_001230154.1 pescadillo homolog isoform 2
NM_001282327.1 NP_001269256.1 pescadillo homolog isoform 3
NM_001282328.1 NP_001269257.1 pescadillo homolog isoform 3
NM_014303.4 NP_055118.1 pescadillo homolog isoform 1

PES1 蛋白结构

Pescadillo_N

Pescadillo_N: Pescadillo N-terminus (6 - 277)

BRCT

BRCT: BRCA1 C Terminus (BRCT) domain (323 - 402)

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

pescadillo homolog

pescadillo homolog 1, containing BRCT domain

PES1 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
PES1 O00541 BOP1 Homo sapiens Q14137 28514442
种属内
PES1 O00541 BOP1 Homo sapiens Q14137 35271311
种属内
PES1 O00541 BOP1 Homo sapiens Q14137 33961781
种属内
PES1 O00541 WDR12 Homo sapiens Q9GZL7 33961781
种属内
PES1 O00541 WDR12 Homo sapiens Q9GZL7 28514442
种属内
PES1 O00541 WDR12 Homo sapiens Q9GZL7 35271311
种属内
PES1 O00541 WDR12 Homo sapiens Q9GZL7 30021884
种属内
PES1 O00541 HTT Homo sapiens P42858 32814053
种属内
PES1 O00541 HTT Homo sapiens P42858 32814053
种属内
PES1 O00541 HTT Homo sapiens P42858 32814053
种属内
PES1 O00541 FOXM1 Homo sapiens Q08050 25609649
种属内
PES1 O00541 ATXN1 Homo sapiens P54253 32814053
种属内
PES1 O00541 ATXN1 Homo sapiens P54253 32814053
种属内
PES1 O00541 ATXN1 Homo sapiens P54253 32814053
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
Robinow Syndrome, Autosomal Recessive 1

Robinow Syndrome, Autosomal Recessive

Autosomal Recessive Robinow Syndrome

Covesdem Syndrome

RRS1

Costovertebral Segmentation Defect-Mesomelia Syndrome

Rrs

Costovertebral Segmentation Defect With Mesomelia, Formerly

Covesdem Syndrome, Formerly

Costovertebral Segmentation Defect With Mesomelia

Robinow Syndrome Autosomal Recessive With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals

Robinow Syndrome Autosomal Recessive With Brachy-Syn-Polydactyly

Robinow Syndrome, Autosomal Recessive, With Aplasia/Hypoplasia Of Phalanges And Metacarpals/Metatarsals

Robinow Syndrome, Autosomal Recessive, With Brachy-Syn-Polydactyly

Robinow, Autosomal Recessive Syndrome, Type 1

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

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 PES1 VGNC VGNC:68788
Canis familiaris PES1 VGNC VGNC:44425
Macaca mulatta PES1 VGNC VGNC:75944
Bos taurus PES1 VGNC VGNC:32750
Mus musculus PES1 MGD MGI:1890613
Rattus norvegicus PES1 RGD RGD:1559814