Aliases for SWSAP1 Gene

Aliases for SWSAP1 Gene

  • SWIM-Type Zinc Finger 7 Associated Protein 1 2 3 5
  • SWS1-Associated Protein 1 2 3 4
  • ZSWIM7AP1 2 3 4
  • Zinc Finger, SWIM-Type Containing 7 Associated Protein 1 2 3
  • ZSWIM7-Associated Protein 1 3 4
  • ATPase SWSAP1 3 4
  • C19orf39 3 4
  • SWS1AP1 2 3
  • SWIM-Type Zinc Finger 7-Associated Protein 1 4
  • Chromosome 19 Open Reading Frame 39 2
  • FLJ35119 2
  • SWSAP1 5

External Ids for SWSAP1 Gene

Previous HGNC Symbols for SWSAP1 Gene

  • C19orf39

Previous GeneCards Identifiers for SWSAP1 Gene

  • GC19P011486

Summaries for SWSAP1 Gene

GeneCards Summary for SWSAP1 Gene

SWSAP1 (SWIM-Type Zinc Finger 7 Associated Protein 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include ATPase activity and single-stranded DNA binding.

UniProtKB/Swiss-Prot Summary for SWSAP1 Gene

  • ATPase which is preferentially stimulated by single-stranded DNA and is involved in homologous recombination repair (HRR). Has a DNA-binding activity which is independent of its ATPase activity.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SWSAP1 Gene

Genomics for SWSAP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SWSAP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SWSAP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SWSAP1

Genomic Locations for SWSAP1 Gene

Latest Assembly
chr19:11,374,666-11,376,951
(GRCh38/hg38)
Size:
2,286 bases
Orientation:
Plus strand

Previous Assembly
chr19:11,485,342-11,486,845
(GRCh37/hg19 by Entrez Gene)
Size:
1,504 bases
Orientation:
Plus strand

chr19:11,485,361-11,487,627
(GRCh37/hg19 by Ensembl)
Size:
2,267 bases
Orientation:
Plus strand

Genomic View for SWSAP1 Gene

Genes around SWSAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SWSAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SWSAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SWSAP1 Gene

Proteins for SWSAP1 Gene

  • Protein details for SWSAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6NVH7-SWAP1_HUMAN
    Recommended name:
    ATPase SWSAP1
    Protein Accession:
    Q6NVH7
    Secondary Accessions:
    • Q8NAM1

    Protein attributes for SWSAP1 Gene

    Size:
    229 amino acids
    Molecular mass:
    24311 Da
    Quaternary structure:
    • Interacts with ZSWIM7; they form a functional complex involved in homologous recombination repair and stabilize each other. Interacts with RAD51, RAD51B, RAD51C, RAD51D and XRCC3; involved in homologous recombination repair.

neXtProt entry for SWSAP1 Gene

Post-translational modifications for SWSAP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SWSAP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SWSAP1 Gene

Domains & Families for SWSAP1 Gene

Gene Families for SWSAP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SWSAP1 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with SWSAP1: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SWSAP1 Gene

Function for SWSAP1 Gene

Molecular function for SWSAP1 Gene

UniProtKB/Swiss-Prot Function:
ATPase which is preferentially stimulated by single-stranded DNA and is involved in homologous recombination repair (HRR). Has a DNA-binding activity which is independent of its ATPase activity.

Phenotypes From GWAS Catalog for SWSAP1 Gene

Gene Ontology (GO) - Molecular Function for SWSAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003697 single-stranded DNA binding IBA,IDA 21965664
GO:0005515 protein binding IPI 21965664
GO:0016887 ATPase activity IBA,IDA 21965664
genes like me logo Genes that share ontologies with SWSAP1: view
genes like me logo Genes that share phenotypes with SWSAP1: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SWSAP1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SWSAP1 Gene

Localization for SWSAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SWSAP1 Gene

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 SWSAP1 gene
Compartment Confidence
nucleus 4
extracellular 1
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SWSAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0097196 Shu complex IDA 21965664
genes like me logo Genes that share ontologies with SWSAP1: view

Pathways & Interactions for SWSAP1 Gene

PathCards logo

SuperPathways for SWSAP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SWSAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000724 double-strand break repair via homologous recombination IBA,IMP 21965664
GO:0006281 DNA repair IEA --
GO:0006310 DNA recombination IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0050821 protein stabilization IMP 21965664
genes like me logo Genes that share ontologies with SWSAP1: view

No data available for Pathways by source and SIGNOR curated interactions for SWSAP1 Gene

Drugs & Compounds for SWSAP1 Gene

No Compound Related Data Available

Transcripts for SWSAP1 Gene

mRNA/cDNA for SWSAP1 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SWSAP1

Alternative Splicing Database (ASD) splice patterns (SP) for SWSAP1 Gene

No ASD Table

Relevant External Links for SWSAP1 Gene

GeneLoc Exon Structure for
SWSAP1

Expression for SWSAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SWSAP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SWSAP1

SOURCE GeneReport for Unigene cluster for SWSAP1 Gene:

Hs.631619

Evidence on tissue expression from TISSUES for SWSAP1 Gene

  • Spleen(4.1)
genes like me logo Genes that share expression patterns with SWSAP1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SWSAP1 Gene

Orthologs for SWSAP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SWSAP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SWSAP1 30 31
  • 99.42 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SWSAP1 30 31
  • 84.59 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SWSAP1 30 31
  • 83.64 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Swsap1 30
  • 76.38 (n)
Mouse
(Mus musculus)
Mammalia Swsap1 30 17 31
  • 72.99 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SWSAP1 31
  • 45 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SWSAP1 31
  • 41 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SWSAP1 31
  • 36 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii swsap1 31
  • 22 (a)
OneToOne
Species where no ortholog for SWSAP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SWSAP1 Gene

ENSEMBL:
Gene Tree for SWSAP1 (if available)
TreeFam:
Gene Tree for SWSAP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SWSAP1: view image

Paralogs for SWSAP1 Gene

No data available for Paralogs for SWSAP1 Gene

Variants for SWSAP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SWSAP1 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs317926 - p.Asp171Gly

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SWSAP1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SWSAP1 Gene

Variant ID Type Subtype PubMed ID
esv26258 CNV loss 19812545
nsv519802 CNV loss 19592680
nsv833752 CNV loss 17160897

Variation tolerance for SWSAP1 Gene

Residual Variation Intolerance Score: 40.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.70; 46.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SWSAP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SWSAP1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SWSAP1 Gene

Disorders for SWSAP1 Gene

Additional Disease Information for SWSAP1

No disorders were found for SWSAP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SWSAP1 Gene

Publications for SWSAP1 Gene

  1. hSWS1·SWSAP1 is an evolutionarily conserved complex required for efficient homologous recombination repair. (PMID: 21965664) Liu T … Huang J (The Journal of biological chemistry 2011) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. The human Shu complex functions with PDS5B and SPIDR to promote homologous recombination. (PMID: 31665741) Martino J … Bernstein KA (Nucleic acids research 2019) 3
  5. Human RAD51 paralogue SWSAP1 fosters RAD51 filament by regulating the anti-recombinase FIGNL1 AAA+ ATPase. (PMID: 30926776) Matsuzaki K … Shinohara A (Nature communications 2019) 3

Products for SWSAP1 Gene

Sources for SWSAP1 Gene