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

    Gene ID: 266971, updated on 12-Sep-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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    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. 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
    2. Transcription-mediated gene fusion in the human genome. Akiva P, et al. Genome Res, 2006 Jan. PMID 16344562, Free PMC Article
    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 (30) 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