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

Gene ID: 71521, updated on 2-Nov-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, Nov 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 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

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