2. Gene
  3. PPHLN1 - periphilin 1 Gene

PPHLN1 - periphilin 1 Gene

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

中文名称：亲周素 1

种属: Homo sapiens

同用名: CR; HSPC206; HSPC232

基因 ID: 51535 | 基因类型: protein coding

关于 PPHLN1

Cytogenetic location: 12q12 Genomic coordinates (GRCh38): 12:42,326,167-42,448,621 (from NCBI)

This gene has 26 transcripts (splice variants) and 319 orthologues. Ubiquitous expression in lymph node (RPKM 7.4), testis (RPKM 6.2) and 25 other tissues.

功能概要

由该基因编码的蛋白质是在表皮外层角质形成细胞的终末分化过程中依次掺入角质化细胞包膜的几种蛋白质之一。这种蛋白质与 periplakin 相互作用，后者被称为角化细胞包膜的前体。这种蛋白质的细胞定位模式和不溶性表明它可能在上皮分化中发挥作用，并有助于表皮完整性和屏障形成。已经观察到编码不同同种型的多个选择性剪接的转录物变体。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene is one of the several proteins that become sequentially incorporated into the cornified cell envelope during the terminal differentiation of keratinocyte at the outer layers of epidermis. This protein interacts with periplakin, which is known as a precursor of the cornified cell envelope. The cellular localization pattern and insolubility of this protein suggest that it may play a role in epithelial differentiation and contribute to epidermal integrity and barrier formation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

PPHLN1 基因产物(21)

mRNA Protein Name
NM_001143787.2 NP_001137259.1 periphilin-1 isoform 6
NM_001143788.2 NP_001137260.1 periphilin-1 isoform 7
NM_001143789.2 NP_001137261.1 periphilin-1 isoform 8
NM_001364822.2 NP_001351751.1 periphilin-1 isoform 9
NM_001364823.2 NP_001351752.1 periphilin-1 isoform 10
NM_001364824.2 NP_001351753.1 periphilin-1 isoform 11
NM_001364825.2 NP_001351754.1 periphilin-1 isoform 12
NM_001364826.2 NP_001351755.1 periphilin-1 isoform 13
NM_001364827.2 NP_001351756.1 periphilin-1 isoform 14
NM_001364828.2 NP_001351757.1 periphilin-1 isoform 15
NM_001364829.2 NP_001351758.1 periphilin-1 isoform 16
NM_001364830.2 NP_001351759.1 periphilin-1 isoform 17
NM_001364831.2 NP_001351760.1 periphilin-1 isoform 18
NM_001364832.2 NP_001351761.1 periphilin-1 isoform 19
NM_001364833.2 NP_001351762.1 periphilin-1 isoform 20
NM_001364834.2 NP_001351763.1 periphilin-1 isoform 9
NM_016488.7 NP_057572.5 periphilin-1 isoform 1
NM_201438.2 NP_958846.1 periphilin-1 isoform 5
NM_201439.2 NP_958847.1 periphilin-1 isoform 3
NM_201440.2 NP_958848.1 periphilin-1 isoform 4
NM_201515.2 NP_958923.1 periphilin-1 isoform 2
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 protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of gene expression, epigenetic IDA
IDA: 通过直接分析推断
26022416 GOA
involved in positive regulation of DNA methylation-dependent heterochromatin formation IDA
IDA: 通过直接分析推断
28581500 GOA
involved in protein localization to heterochromatin IDA
IDA: 通过直接分析推断
28581500 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

PPHLN1 蛋白结构

Lge1

Lge1: Transcriptional regulatory protein LGE1 (234 - 341)

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

periphilin-1

CDC7 expression repressor

PPHLN1 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 PPHLN1 Q8NEY8 CCDC57 Homo sapiens Q2TAC2
Validated Y2H
25416956
Intra PPHLN1 Q8NEY8 CCDC57 Homo sapiens Q2TAC2
Y2H Prey Pooling
25416956
Intra PPHLN1 Q8NEY8 TSGA10 Homo sapiens Q9BZW7
Validated Y2H
25416956
Intra PPHLN1 Q8NEY8 TSGA10 Homo sapiens Q9BZW7
Y2H Prey Pooling
25416956
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
Sarcomatous Intrahepatic Cholangiocarcinoma

Sarcomatoid Intrahepatic Cholangiocarcinoma
Bile Duct Adenoma

Cholangioadenoma

Adenoma Bile Duct

Adenoma, Bile Duct
Ichthyosis

Ichthyoses

Non-Syndromic Ichthyosis

Congenital Ichthyosis
Intrahepatic Cholangiocarcinoma

Cholangiocarcinoma

Intrahepatic Bile Duct Carcinoma

Peripheral Cholangiocarcinoma

Peripheral Intrahepatic Cholangiocarcinoma

Adenocarcinoma Of Intra-Hepatic Bile Ducts

Cholangiocarcinoma, Unspecified Site

Cholangiocarcinoma Of Liver
Gastric Cancer

Stomach Cancer

Gastric Carcinoma

Stomach Carcinoma

Gastric Cancer, Somatic

Gastric Neoplasm

Carcinoma Of Stomach

Stomach Neoplasms

Malignant Neoplasm Of Stomach

Gastric Cancer Risk After H. Pylori Infection

Cancer Of The Stomach

Adult Stomach Cancer

Adult Stomach Carcinoma

GASC

Gastric Cancer Intestinal

Gastric Cancers

Gastric Carcinomas

Cancer, Gastric

Stomach Neoplasm

Malignant Neoplasm Of Body Of Stomach

Malignant Tumor Of Lesser Curve Of Stomach

Gastrocarcinoma Of Unspecified Site

Leather Bottle Stomach

Carcinoma Of Fundus Of Stomach

Cancer Of Fundus Of Stomach

Primary Malignant Neoplasm Of Body Of Stomach

Cancer Of Body Of Stomach

Primary Malignant Neoplasm Of Pyloric Antrum

Pyloric Antrum Cancer

Malignant Tumour Of Stomach
Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies
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-RS10945 PPHLN1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris PPHLN1 VGNC VGNC:57445
Rattus norvegicus PPHLN1 RGD RGD:1306207
Bos taurus PPHLN1 VGNC VGNC:33194
Felis catus PPHLN1 VGNC VGNC:64308
Mus musculus PPHLN1 MGD MGI:1917029
Macaca mulatta PPHLN1 VGNC VGNC:76074
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