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Aliases for PDS5A Gene

Aliases for PDS5A Gene

  • PDS5 Cohesin Associated Factor A 2 3 5
  • Cell Proliferation-Inducing Gene 54 Protein 3 4
  • Sister Chromatid Cohesion Protein 112 3 4
  • SCC-112 3 4
  • PDS5, Regulator Of Cohesion Maintenance, Homolog A (S. Cerevisiae) 2
  • PDS5, Regulator Of Cohesion Maintenance, Homolog A 3
  • Sister Chromatid Cohesion Protein PDS5 Homolog A 3
  • KIAA0648 4
  • SCC112 3
  • PIG54 3
  • PDS5 4

External Ids for PDS5A Gene

Previous GeneCards Identifiers for PDS5A Gene

  • GC04M039501
  • GC04M039148

Summaries for PDS5A Gene

Entrez Gene Summary for PDS5A Gene

  • The protein encoded by this gene binds to the cohesin complex and associates with chromatin through most of the cell cycle. The encoded protein may play a role in regulating sister chromatid cohesion during mitosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

GeneCards Summary for PDS5A Gene

PDS5A (PDS5 Cohesin Associated Factor A) is a Protein Coding gene. Diseases associated with PDS5A include Cornelia De Lange Syndrome. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Mitotic Metaphase and Anaphase. GO annotations related to this gene include binding. An important paralog of this gene is PDS5B.

UniProtKB/Swiss-Prot for PDS5A Gene

  • Probable regulator of sister chromatid cohesion in mitosis which may stabilize cohesin complex association with chromatin. May couple sister chromatid cohesion during mitosis to DNA replication. Cohesion ensures that chromosome partitioning is accurate in both meiotic and mitotic cells and plays an important role in DNA repair.

Gene Wiki entry for PDS5A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDS5A Gene

Genomics for PDS5A Gene

Regulatory Elements for PDS5A Gene

Enhancers for PDS5A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G039468 1.5 Ensembl ENCODE dbSUPER 12 +508.4 508420 1.5 ATF1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 ZNF143 RPL9 PDS5A LOC105374419 SMIM14 KLB RNU6-887P LOC401127
GH04G039945 1 Ensembl ENCODE 16.9 +31.1 31123 2.7 HDGF MTA2 TRIM22 CEBPB CEBPG EBF1 DPF2 TBX21 RELA ARID3A PDS5A N4BP2 LOC344967 RNA5SP159 PABPC1P1
GH04G039942 0.6 ENCODE 12.6 +35.4 35371 0.6 MTA2 CEBPB ZNF664 ATF3 IKZF1 EED ZBTB33 IKZF2 PDS5A RNA5SP159 PABPC1P1
GH04G039975 1.2 ENCODE 5.4 +0.9 942 3.4 HDGF ARNT CREB3L1 MLX AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 N4BP2 ENSG00000250568 ZBTB12BP LOC105374419 SMIM14 PDS5A
GH04G040505 1.2 Ensembl ENCODE dbSUPER 4.5 -528.2 -528231 2.4 TBP SOX13 HDGF CTCF PKNOX1 MAX CEBPG EBF1 RAD21 GATA3 PDS5A MIR4802 RBM47
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PDS5A on UCSC Golden Path with GeneCards custom track

Promoters for PDS5A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000167671 556 2400 HDGF ARNT CREB3L1 MLX AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF2

Genomic Location for PDS5A Gene

Chromosome:
4
Start:
39,822,863 bp from pter
End:
39,977,956 bp from pter
Size:
155,094 bases
Orientation:
Minus strand

Genomic View for PDS5A Gene

Genes around PDS5A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDS5A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDS5A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDS5A Gene

Proteins for PDS5A Gene

  • Protein details for PDS5A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q29RF7-PDS5A_HUMAN
    Recommended name:
    Sister chromatid cohesion protein PDS5 homolog A
    Protein Accession:
    Q29RF7
    Secondary Accessions:
    • Q2TTR5
    • Q68DF7
    • Q8N7J4
    • Q8NG14
    • Q9Y4D4

    Protein attributes for PDS5A Gene

    Size:
    1337 amino acids
    Molecular mass:
    150830 Da
    Quaternary structure:
    • Interacts with the cohesin complex. Interacts with WAPL (via FGF motifs) or CDCA5 (via the FGF motif); the interaction is direct, cohesin-dependent and competitive. Interacts with SMC3. Interacts with TP63.
    Miscellaneous:
    • HeLa cells with a reduced level of PDS5A show a mild defect in sister chromatid cohesion. HeLa cells with a reduced level of RAD21 show reduced association of PDS5A with chromatin.
    SequenceCaution:
    • Sequence=AAI26226.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAM82347.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=CAH18263.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PDS5A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PDS5A Gene

Post-translational modifications for PDS5A Gene

  • Ubiquitination at posLast=308308, Lys584, Lys820, and posLast=974974
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PDS5A Gene

Domains & Families for PDS5A Gene

Protein Domains for PDS5A Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PDS5A Gene

Graphical View of Domain Structure for InterPro Entry

Q29RF7

UniProtKB/Swiss-Prot:

PDS5A_HUMAN :
  • Belongs to the PDS5 family.
Family:
  • Belongs to the PDS5 family.
genes like me logo Genes that share domains with PDS5A: view

No data available for Gene Families for PDS5A Gene

Function for PDS5A Gene

Molecular function for PDS5A Gene

UniProtKB/Swiss-Prot Function:
Probable regulator of sister chromatid cohesion in mitosis which may stabilize cohesin complex association with chromatin. May couple sister chromatid cohesion during mitosis to DNA replication. Cohesion ensures that chromosome partitioning is accurate in both meiotic and mitotic cells and plays an important role in DNA repair.

Gene Ontology (GO) - Molecular Function for PDS5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15837422
genes like me logo Genes that share ontologies with PDS5A: view
genes like me logo Genes that share phenotypes with PDS5A: view

Animal Models for PDS5A Gene

MGI Knock Outs for PDS5A:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PDS5A Gene

Localization for PDS5A Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDS5A Gene

Nucleus. Note=Associated with chromatin through most of the cell cycle. Dissociates from chromatin in late prophase, reassociates during late telophase. {ECO:0000269 PubMed:11076961, ECO:0000269 PubMed:15019998}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PDS5A gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytosol 5

Gene Ontology (GO) - Cellular Components for PDS5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region TAS --
GO:0000785 chromatin IDA 16682347
GO:0005634 nucleus IEA,IBA --
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome TAS --
genes like me logo Genes that share ontologies with PDS5A: view

Pathways & Interactions for PDS5A Gene

genes like me logo Genes that share pathways with PDS5A: view

Pathways by source for PDS5A Gene

Gene Ontology (GO) - Biological Process for PDS5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IBA --
GO:0007049 cell cycle IEA --
GO:0007062 sister chromatid cohesion TAS --
GO:0007064 mitotic sister chromatid cohesion IPI 21111234
GO:0007067 mitotic nuclear division IEA --
genes like me logo Genes that share ontologies with PDS5A: view

No data available for SIGNOR curated interactions for PDS5A Gene

Drugs & Compounds for PDS5A Gene

No Compound Related Data Available

Transcripts for PDS5A Gene

Unigene Clusters for PDS5A Gene

PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for PDS5A Gene

No ASD Table

Relevant External Links for PDS5A Gene

GeneLoc Exon Structure for
PDS5A
ECgene alternative splicing isoforms for
PDS5A

Expression for PDS5A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PDS5A Gene

Protein differential expression in normal tissues from HIPED for PDS5A Gene

This gene is overexpressed in Bone (35.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PDS5A Gene



Protein tissue co-expression partners for PDS5A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PDS5A Gene:

PDS5A

SOURCE GeneReport for Unigene cluster for PDS5A Gene:

Hs.331431

mRNA Expression by UniProt/SwissProt for PDS5A Gene:

Q29RF7-PDS5A_HUMAN
Tissue specificity: Highest level in colon. Low levels in lung, ovary, breast and kidney. Reduced level in renal tumor tissue. Isoform 2 is expressed in kidney.

Evidence on tissue expression from TISSUES for PDS5A Gene

  • Liver(4.3)
  • Nervous system(3.4)
genes like me logo Genes that share expression patterns with PDS5A: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PDS5A Gene

Orthologs for PDS5A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PDS5A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PDS5A 35
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PDS5A 35
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PDS5A 34 35
  • 95.24 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PDS5A 35
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PDS5A 34 35
  • 92.77 (n)
rat
(Rattus norvegicus)
Mammalia Pds5a 34
  • 91.72 (n)
mouse
(Mus musculus)
Mammalia Pds5a 34 16 35
  • 91.69 (n)
chicken
(Gallus gallus)
Aves PDS5A 34 35
  • 84.75 (n)
lizard
(Anolis carolinensis)
Reptilia PDS5A 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490474 34
  • 76.45 (n)
zebrafish
(Danio rerio)
Actinopterygii pds5a 34 35
  • 71.64 (n)
-- 34
fruit fly
(Drosophila melanogaster)
Insecta pds5 35
  • 36 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea evl-14 35
  • 17 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PDS5 35 37
  • 17 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G47690 34
  • 41.42 (n)
rice
(Oryza sativa)
Liliopsida Os06g0286351 34
  • 41.79 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 36 (a)
OneToMany
Species where no ortholog for PDS5A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PDS5A Gene

ENSEMBL:
Gene Tree for PDS5A (if available)
TreeFam:
Gene Tree for PDS5A (if available)

Paralogs for PDS5A Gene

Paralogs for PDS5A Gene

(1) SIMAP similar genes for PDS5A Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with PDS5A: view

Variants for PDS5A Gene

Sequence variations from dbSNP and Humsavar for PDS5A Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1000003182 -- 39,937,591(+) ATTTA(G/T)TATTA intron-variant
rs1000025569 -- 39,965,285(+) CCAGC(C/T)GGGTC intron-variant
rs1000056665 -- 39,965,030(+) GTAGA(C/T)TAATC intron-variant
rs1000078721 -- 39,886,644(+) GGAGG(C/T)GGAGG intron-variant
rs1000123937 -- 39,882,244(+) CTTAA(C/G)TAGTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PDS5A Gene

Variant ID Type Subtype PubMed ID
dgv5194n100 CNV gain 25217958
dgv9019n54 CNV gain 21841781
dgv9020n54 CNV loss 21841781
dgv9021n54 CNV gain 21841781
esv2422397 CNV duplication 17116639
esv24476 CNV loss 19812545
esv2667051 CNV deletion 23128226
esv2671895 CNV deletion 23128226
esv2727471 CNV deletion 23290073
esv3333160 CNV insertion 20981092
esv3575688 CNV gain 25503493
esv3600293 CNV loss 21293372
esv3600294 CNV loss 21293372
esv3600295 CNV loss 21293372
nsv1010235 CNV gain 25217958
nsv1126685 CNV deletion 24896259
nsv1143081 CNV tandem duplication 24896259
nsv290515 CNV deletion 16902084
nsv461338 CNV loss 19166990
nsv520312 CNV gain 19592680
nsv594030 CNV gain 21841781
nsv594031 CNV loss 21841781
nsv594032 CNV gain 21841781
nsv594033 CNV gain 21841781
nsv594042 CNV loss 21841781
nsv594043 CNV gain 21841781
nsv822541 CNV gain 20364138
nsv967739 CNV duplication 23825009

Variation tolerance for PDS5A Gene

Residual Variation Intolerance Score: 8.28% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.33; 26.29% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PDS5A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDS5A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDS5A Gene

Disorders for PDS5A Gene

MalaCards: The human disease database

(1) MalaCards diseases for PDS5A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cornelia de lange syndrome
  • brachmann de lange syndrome
- elite association - COSMIC cancer census association via MalaCards
Search PDS5A in MalaCards View complete list of genes associated with diseases

Relevant External Links for PDS5A

Genetic Association Database (GAD)
PDS5A
Human Genome Epidemiology (HuGE) Navigator
PDS5A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PDS5A
genes like me logo Genes that share disorders with PDS5A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PDS5A Gene

Publications for PDS5A Gene

  1. Functional contribution of Pds5 to cohesin-mediated cohesion in human cells and Xenopus egg extracts. (PMID: 15855230) Losada A. … Hirano T. (J. Cell Sci. 2005) 2 3 4 64
  2. Characterization of vertebrate cohesin complexes and their regulation in prophase. (PMID: 11076961) Sumara I. … Peters J.-M. (J. Cell Biol. 2000) 2 3 4 64
  3. Pds5B is required for cohesion establishment and Aurora B accumulation at centromeres. (PMID: 24141881) Carretero M. … Losada A. (EMBO J. 2013) 2 3 64
  4. Sororin mediates sister chromatid cohesion by antagonizing wapl. (PMID: 21111234) Nishiyama T. … Peters J.M. (Cell 2010) 3 4 64
  5. Cohesin acetylation speeds the replication fork. (PMID: 19907496) Terret M.E. … Jallepalli P.V. (Nature 2009) 3 4 64

Products for PDS5A Gene

Sources for PDS5A Gene

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