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    Pds5a PDS5 cohesin associated factor A [ Mus musculus (house mouse) ]

    Gene ID: 71521, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Pds5aprovided by MGI
    Official Full Name
    PDS5 cohesin associated factor Aprovided by MGI
    Primary source
    MGI:MGI:1918771
    See related
    Ensembl:ENSMUSG00000029202 AllianceGenome:MGI:1918771
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    9030416H16Rik; B230308N11Rik; E230024D05Rik
    Summary
    Acts upstream of or within several processes, including lens development in camera-type eye; neuroblast migration; and roof of mouth development. Predicted to be located in chromatin; nucleoplasm; and plasma membrane. Predicted to be active in nucleus. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and sensory organ. Used to study Cornelia de Lange syndrome. Orthologous to human PDS5A (PDS5 cohesin associated factor A). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in CNS E11.5 (RPKM 19.5), limb E14.5 (RPKM 12.4) and 24 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Pds5a in Genome Data Viewer
    Location:
    5; 5 C3.1
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (65763062..65855579, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (65605719..65698236, complement)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene small integral membrane protein 14 Neighboring gene STARR-positive B cell enhancer ABC_E4758 Neighboring gene STARR-seq mESC enhancer starr_13264 Neighboring gene STARR-positive B cell enhancer ABC_E4759 Neighboring gene STARR-positive B cell enhancer ABC_E8059 Neighboring gene STARR-positive B cell enhancer ABC_E11290 Neighboring gene predicted gene, 40309 Neighboring gene ubiquitin-conjugating enzyme E2K Neighboring gene STARR-seq mESC enhancer starr_13267 Neighboring gene predicted gene, 24399 Neighboring gene STARR-positive B cell enhancer ABC_E3578 Neighboring gene STARR-seq mESC enhancer starr_13273 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:66156164-66156347 Neighboring gene predicted gene 5296 Neighboring gene NEDD4 binding protein 2 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:66186562-66186763 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:66242163-66242364 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:66249264-66249516 Neighboring gene predicted gene 3521

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Loss of cohesin regulator PDS5A reveals repressive role of Polycomb loops. Bsteh D, et al. Nat Commun, 2023 Dec 9. PMID 38071364, Free PMC Article
    2. PDS5A and PDS5B differentially affect gene expression without altering cohesin localization across the genome. Arruda NL, et al. Epigenetics Chromatin, 2022 Aug 19. PMID 35986423, Free PMC Article
    3. PDS5 proteins regulate the length of axial elements and telomere integrity during male mouse meiosis. Viera A, et al. EMBO Rep, 2020 Jun 4. PMID 32285610, Free PMC Article
    4. PDS5 proteins are required for proper cohesin dynamics and participate in replication fork protection. Morales C, et al. J Biol Chem, 2020 Jan 3. PMID 31757807, Free PMC Article
    5. Pds5B is required for cohesion establishment and Aurora B accumulation at centromeres. Carretero M, et al. EMBO J, 2013 Nov 13. PMID 24141881, Free PMC Article

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Loss of cohesin regulator PDS5A reveals repressive role of Polycomb loops.
      Title: Loss of cohesin regulator PDS5A reveals repressive role of Polycomb loops.
    2. PDS5A and PDS5B differentially affect gene expression without altering cohesin localization across the genome.
      Title: PDS5A and PDS5B differentially affect gene expression without altering cohesin localization across the genome.
    3. PDS5 proteins regulate the length of axial elements and telomere integrity during male mouse meiosis.
      Title: PDS5 proteins regulate the length of axial elements and telomere integrity during male mouse meiosis.
    4. While Pds5A(-/-) and Pds5B(-/-) mice die at birth, embryos harboring 3 mutant Pds5 alleles die between E11.5 and E12.5 most likely of heart failure, indicating that total Pds5 gene dosage is critical for normal development.
      Title: Dosage effects of cohesin regulatory factor PDS5 on mammalian development: implications for cohesinopathies.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • mKIAA0648

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in DNA repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within anterior/posterior pattern specification IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within heart morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within lens development in camera-type eye IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within metanephros development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitotic sister chromatid cohesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic sister chromatid cohesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitotic sister chromatid cohesion ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of DNA replication ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of DNA replication ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within neuroblast migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within roof of mouth development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in chromatin ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    sister chromatid cohesion protein PDS5 homolog A
    Names
    PDS5, regulator of cohesion maintenance, homolog A

    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)

    1. NM_001081321.3 → NP_001074790.1  sister chromatid cohesion protein PDS5 homolog A

      See identical proteins and their annotated locations for NP_001074790.1

      Status: VALIDATED

      Source sequence(s)
      AC112263
      UniProtKB/Swiss-Prot
      E9Q656, Q6A026
      UniProtKB/TrEMBL
      E9QPI5
      Related
      ENSMUSP00000144171.2, ENSMUST00000201948.4
      Conserved Domains (1) summary
      sd00044
      Location:282 → 312
      HEAT; HEAT repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      65763062..65855579 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030254809.2 → XP_030110669.1  sister chromatid cohesion protein PDS5 homolog A isoform X2

      UniProtKB/Swiss-Prot
      E9Q656, Q6A026
      Conserved Domains (1) summary
      sd00044
      Location:99 → 129
      HEAT; HEAT repeat [structural motif]

    2. XM_036165493.1 → XP_036021386.1  sister chromatid cohesion protein PDS5 homolog A isoform X3

      UniProtKB/Swiss-Prot
      E9Q656, Q6A026
      Conserved Domains (2) summary
      sd00044
      Location:99 → 129
      HEAT; HEAT repeat [structural motif]
      cd19953
      Location:1 → 487
      PDS5; Sister chromatid cohesion protein PDS5

    3. XM_006504115.5 → XP_006504178.1  sister chromatid cohesion protein PDS5 homolog A isoform X1

      See identical proteins and their annotated locations for XP_006504178.1

      UniProtKB/Swiss-Prot
      E9Q656, Q6A026
      Related
      ENSMUSP00000031104.7, ENSMUST00000031104.7
      Conserved Domains (1) summary
      sd00044
      Location:282 → 312
      HEAT; HEAT repeat [structural motif]

    RNA

    1. XR_001784747.2 RNA Sequence

    2. XR_001784748.2 RNA Sequence

    3. XR_004942563.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_027818.1: Suppressed sequence

      Description
      NM_027818.1: This RefSeq was removed because currently there is insufficient support for the transcript.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6A026.3 GenPept UniProtKB/Swiss-Prot:Q6A026

    Gene LinkOut

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

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