2. Gene
  3. PPHLN1 - periphilin 1 Gene

PPHLN1 - periphilin 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as CR; HSPC206; HSPC232

Gene ID: 51535 | Gene type: protein coding

About 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.

Summary

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 Products(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
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Biological Process GO Annotation Evidence Reference Source
involved in negative regulation of gene expression, epigenetic IDA
IDA: Inferred from direct assay
26022416 GOA
involved in positive regulation of DNA methylation-dependent heterochromatin formation IDA
IDA: Inferred from direct assay
28581500 GOA
involved in protein localization to heterochromatin IDA
IDA: Inferred from direct assay
28581500 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PPHLN1 Protein Structure

Lge1

Lge1: Transcriptional regulatory protein LGE1 (234 - 341)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 458 a.a.
Protein Preferred Names Protein Names

periphilin-1

CDC7 expression repressor

PPHLN1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
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
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS10945 PPHLN1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source 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