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

Gene ID: 11137, updated on 5-Jul-2020

Summary

Official Symbol
PWP1provided by HGNC
Official Full Name
PWP1 homolog, endonucleinprovided by HGNC
Primary source
HGNC:HGNC:17015
See related
Ensembl:ENSG00000136045
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
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

Genomic context

See PWP1 in Genome Data Viewer
Location:
12q23.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (107685732..107713162)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (108079590..108106257)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene SET pseudogene 7 Neighboring gene BTB domain containing 11 Neighboring gene RNA, 5S ribosomal pseudogene 371 Neighboring gene uncharacterized LOC101929162 Neighboring gene ribosomal protein L17 pseudogene 38 Neighboring gene PR/SET domain 4

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
H4K20me3 modified histone binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
histone H4-K20 trimethylation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of peptidyl-serine phosphorylation of STAT protein IEA
Inferred from Electronic Annotation
more info
 
positive regulation of stem cell differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription of nucleolar large rRNA by RNA polymerase I IDA
Inferred from Direct Assay
more info
PubMed 
ribosome biogenesis IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
chromosome IEA
Inferred from Electronic Annotation
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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)

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)

  1. NM_001317962.1NP_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
    Related
    ENSP00000445249.1, ENST00000541166.1
    Conserved Domains (2) summary
    sd00039
    Location:197233
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:191424
    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 ...
  2. NM_001317963.1NP_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:4783
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:41202
    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 ...
  3. NM_007062.3NP_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
    Q13610
    UniProtKB/TrEMBL
    A0A024RBH5
    Related
    ENSP00000387365.3, ENST00000412830.8
    Conserved Domains (2) summary
    sd00039
    Location:259295
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:253486
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    107685732..107713162
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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