PWP1 PWP1 homolog, endonuclein [Homo sapiens (human)] - Gene

Summary

Official Symbol: PWP1provided by HGNC
Official Full Name: PWP1 homolog, endonucleinprovided by HGNC
Primary source: HGNC:HGNC:17015
See related: Ensembl:ENSG00000136045 MIM:620055; AllianceGenome:HGNC:17015
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NCLB; IEF-SSP-9502
Summary: The protein encoded by this gene contains several WD-40 repeats and is found mostly in the nucleus. The expression and localization of this protein are cell cycle dependent. Expression of this gene is upregulated in pancreatic adenocarcinoma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
Expression: Ubiquitous expression in testis (RPKM 14.1), brain (RPKM 13.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q23.3

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (107685799..107713162)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (107649292..107676654)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (108079576..108106939)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

High PWP1 expression is associated with head and neck squamous cell carcinoma.
Title: PWP1 Mediates Nutrient-Dependent Growth Control through Nucleolar Regulation of Ribosomal Gene Expression.
Endonuclein interacts with several proteins indicating a broad function including signal transduction and chaperone activity
Title: Identification and characterization of endonuclein binding proteins: evidence of modulatory effects on signal transduction and chaperone activity.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-7102 (e-PCR)
- UniSTS:21543

D12S1163E (e-PCR)
- UniSTS:151445

STS-L07758 (e-PCR)
- UniSTS:16895

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables H4K20me3 modified histone binding	IEA Inferred from Electronic Annotation more info
enables histone chaperone activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in DNA-templated transcription	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of stem cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription of nucleolar large rRNA by RNA polymerase I	IDA Inferred from Direct Assay more info	PubMed
involved_in rRNA processing	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in chromosome	IEA Inferred from Electronic Annotation more info
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: periodic tryptophan protein 1 homolog

Names: endonuclein; keratinocyte protein IEF SSP 9502; nuclear phosphoprotein similar to S. cerevisiae PWP1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001317962.2 → NP_001304891.1 periodic tryptophan protein 1 homolog isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate first exon in place of that of variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AC007622, AK296252, CA449439

Consensus CDS

CCDS81735.1

UniProtKB/TrEMBL

B4DJV5, Q53FW9

Related

ENSP00000445249.1, ENST00000541166.1

Conserved Domains (2) summary

sd00039
Location:197 → 233

7WD40; WD40 repeat [structural motif]

cl25539
Location:191 → 424

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_001317963.2 → NP_001304892.1 periodic tryptophan protein 1 homolog isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice junction at the 5' end of an exon compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AC007622, BC010921, CA449439, DC380488, L07758

UniProtKB/Swiss-Prot

Q13610

Conserved Domains (2) summary

sd00039
Location:47 → 83

7WD40; WD40 repeat [structural motif]

cl29593
Location:41 → 202

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_007062.3 → NP_008993.1 periodic tryptophan protein 1 homolog isoform 1

See identical proteins and their annotated locations for NP_008993.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AC007622, CA449439, DC380488, L07758

Consensus CDS

CCDS9114.1

UniProtKB/Swiss-Prot

A8K3R6, Q13610, Q7Z3X9

UniProtKB/TrEMBL

Q53FW9

Related

ENSP00000387365.3, ENST00000412830.8

Conserved Domains (2) summary

sd00039
Location:259 → 295

7WD40; WD40 repeat [structural motif]

cl29593
Location:253 → 486

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...