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PIPSL PIP5K1A and PSMD4 like (pseudogene) [ Homo sapiens (human) ]

Gene ID: 266971, updated on 10-Dec-2024

Summary

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Official Symbol
PIPSLprovided by HGNC
Official Full Name
PIP5K1A and PSMD4 like (pseudogene)provided by HGNC
Primary source
HGNC:HGNC:23733
See related
Ensembl:ENSG00000293162 AllianceGenome:HGNC:23733
Gene type
pseudo
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PSMD4P2; PIP5K1L1; PIP5K1P3; bA429H9.1
Summary
This locus is a transcribed pseudogene with similarity to two adjacent chromosome 1 loci: phosphatidylinositol-4-phosphate 5-kinase, type I, alpha (PIP5K1A, GeneID 8394) and proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 (PSMD4, GeneID 5710). The pseudogene is believed to have occurred from L1 retrotransposition into chromosome 10 of a read-through transcript between the two adjacent loci. Evidence of transcription has been found (PubMed IDs: 16344562 and 17623810), but the latter publication found no evidence that the predicted protein is translated. The NCBI RefSeq Project therefore continues to treat this as a transcribed pseudogene. [provided by RefSeq, Jan 2009]
Annotation information
Note: This locus is a transcribed pseudogene with similarity to two adjacent chromosome 1 loci: phosphatidylinositol-4-phosphate 5-kinase, type I, alpha (PIP5K1A, GeneID 8394) and proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 (PSMD4, GeneID 5710). The pseudogene is believed to have occurred from L1 retrotransposition into chromosome 10 of a read-through transcript between the two adjacent loci. Evidence of transcription has been found (PubMed IDs: 16344562 and 17623810), but the latter publication found no evidence that the predicted protein is translated. The NCBI RefSeq Project therefore continues to treat this as a transcribed pseudogene. [13 Feb 2013]
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Genomic context

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See PIPSL in Genome Data Viewer
Location:
10q23.33
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (93958140..93961915, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (94837222..94841009, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (95717897..95721672, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2630 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2631 Neighboring gene RAB11A, member RAS oncogene family pseudogene 1 Neighboring gene solute carrier family 35 member G1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:95686691-95687890 Neighboring gene uncharacterized LOC105378438 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2632 Neighboring gene phospholipase C epsilon 1 Neighboring gene RNY4 pseudogene 26

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Transcription-mediated gene fusion in the human genome. Akiva P, et al. Genome Res, 2006 Jan. PMID 16344562, Free PMC Article
  2. Inference for the initial stage of domain shuffling: tracing the evolutionary fate of the PIPSL retrogene in hominoids. Ohshima K, et al. Mol Biol Evol, 2010 Nov. PMID 20525901
  3. A novel testis ubiquitin-binding protein gene arose by exon shuffling in hominoids. Babushok DV, et al. Genome Res, 2007 Aug. PMID 17623810, Free PMC Article
  4. Identification and proteomic analysis of distinct UBE3A/E6AP protein complexes. Martínez-Noël G, et al. Mol Cell Biol, 2012 Aug. PMID 22645313, Free PMC Article
  5. Characterization of Dynamic UbR-Proteasome Subcomplexes by In vivo Cross-linking (X) Assisted Bimolecular Tandem Affinity Purification (XBAP) and Label-free Quantitation. Yu C, et al. Mol Cell Proteomics, 2016 Jul. PMID 27114451, Free PMC Article

See all (33) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The first evidence for the translation of PIPSL in humans, is provided.
    Title: Inference for the initial stage of domain shuffling: tracing the evolutionary fate of the PIPSL retrogene in hominoids.
  2. PIPSL is a tightly regulated, testis-specific novel ubiquitin-binding protein formed by an unusual exon-shuffling mechanism in hominoid primates and represents a key example of rapid evolution of a testis-specific gene.
    Title: A novel testis ubiquitin-binding protein gene arose by exon shuffling in hominoids.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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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

Other Names

  • PIP5K1A-PSMD4
  • phosphatidylinositol-4-phosphate 5-kinase, type I, alpha pseudogene
  • phosphatidylinositol-4-phosphate 5-kinase, type I-like 1
  • proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2
  • proteasome 26S non-ATPase subunit 4 pseudogene
  • putative PIP5K1A and PSMD4-like protein

Clone Names

  • FLJ33990, MGC87444

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 1-phosphatidylinositol-4-phosphate 5-kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in phosphatidylinositol phosphate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

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.

RNA

  1. NR_002319.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL365510
    Related
    ENST00000480546.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    93958140..93961915 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    94837222..94841009 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NG_002395.1: Suppressed sequence

    Description
    NG_002395.1: This RefSeq was permanently suppressed because it is now thought that this gene is a transcribed pseudogene and is now represented by NR_002319.

  2. NG_006440.1: Suppressed sequence

    Description
    NG_006440.1: This RefSeq was permanently suppressed because it is now thought that this gene is a transcribed pseudogene.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A2A3N6.1 GenPept UniProtKB/Swiss-Prot:A2A3N6

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Other Literature Sources
Chemical Information
Molecular Biology Databases
Research Materials