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

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 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.

Additional gene information for SWSAP1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SWSAP1 Gene

Genomics for SWSAP1 Gene

GeneHancer (GH) Regulatory Elements for SWSAP1 Gene

Promoters and enhancers for SWSAP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I011373 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 550.8 +1.6 1635 6.2 HDGF PKNOX1 SMAD1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ENSG00000267277 SWSAP1 PIR61774 ILF3 KRI1 ZNF627 ZNF136 ZNF442 ZNF844 ZNF44
GH19I010379 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 19.5 -994.2 -994158 1.9 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF213 TYK2 GC19P010382 ILF3 KRI1 FBXL12 DNMT1 PPAN RAVER1 LOC100419831 ZNF561
GH19I011086 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.3 -282.3 -282315 11 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC LDLR ILF3 RAVER1 ZNF491 ZNF441 KRI1 ZNF700 ZNF844 ZNF627 PPAN
GH19I011639 Promoter/Enhancer 1.5 Ensembl ENCODE 21.3 +265.4 265356 1.8 PKNOX1 ARID4B SIN3A ZNF2 ZNF48 POLR2B GLIS2 ZNF416 KLF7 FOS ENSG00000197332 ILF3 ZNF44 ZNF20 ZNF763 ZNF564 ZNF700 ZNF136 ZNF878 ZNF627
GH19I011150 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 12.3 -220.9 -220862 6.3 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SPC24 KRI1 ILF3 TIMM29 ZNF20 RAVER1 ZNF627 ZNF433 ZNF878 ZNF700
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SWSAP1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for SWSAP1 Gene

Genomic Locations for SWSAP1 Gene
chr19:11,374,685-11,376,951
(GRCh38/hg38)
Size:
2,267 bases
Orientation:
Plus strand
chr19:11,485,361-11,487,627
(GRCh37/hg19)

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

No Post-translational modifications

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 secreted proteins

Protein Domains for SWSAP1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

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

No data available for Suggested Antigen Peptide Sequences 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 IDA 21965664
GO:0005515 protein binding IPI 21965664
GO:0016887 ATPase activity IDA 21965664
genes like me logo Genes that share ontologies with SWSAP1: view
genes like me logo Genes that share phenotypes with SWSAP1: view

Animal Model Products

Clone Products

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 2
mitochondrion 2
cytosol 1

Gene Ontology (GO) - Cellular Components for SWSAP1 Gene

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SWSAP1 Gene

Pathways & Interactions for SWSAP1 Gene

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 IMP 21965664
GO:0000725 recombinational repair IEA --
GO:0006281 DNA repair IEA --
GO:0006310 DNA recombination IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
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) Additional mRNA sequences :
(53) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SWSAP1 Gene

SWIM-type zinc finger 7 associated protein 1:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for SWSAP1 Gene

GeneLoc Exon Structure for
SWSAP1
ECgene alternative splicing isoforms for
SWSAP1

Expression for SWSAP1 Gene

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

NURSA nuclear receptor signaling pathways regulating expression of SWSAP1 Gene:

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

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 33 34
  • 99.42 (n)
dog
(Canis familiaris)
Mammalia SWSAP1 33 34
  • 84.59 (n)
cow
(Bos Taurus)
Mammalia SWSAP1 33 34
  • 83.64 (n)
rat
(Rattus norvegicus)
Mammalia Swsap1 33
  • 76.38 (n)
mouse
(Mus musculus)
Mammalia Swsap1 33 16 34
  • 72.99 (n)
oppossum
(Monodelphis domestica)
Mammalia SWSAP1 34
  • 45 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SWSAP1 34
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SWSAP1 34
  • 36 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii swsap1 34
  • 22 (a)
OneToOne
Species where no ortholog for SWSAP1 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)
  • 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 squirt (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)

Paralogs for SWSAP1 Gene

No data available for Paralogs for SWSAP1 Gene

Variants for SWSAP1 Gene

Sequence variations from dbSNP and Humsavar for SWSAP1 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs141524122 likely-benign, Familial erythrocytosis 11,377,407(+) T/A/C downstream_transcript_variant
rs542954029 likely-benign, Familial erythrocytosis 11,377,300(+) G/T downstream_transcript_variant
rs771124995 likely-benign, Familial erythrocytosis 11,377,314(+) C/T downstream_transcript_variant
rs886054191 uncertain-significance, Familial erythrocytosis 11,377,365(+) G/A downstream_transcript_variant
rs1001934794 -- 11,373,680(+) C/A upstream_transcript_variant

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

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

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

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 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. Evolutionary and functional analysis of the invariant SWIM domain in the conserved Shu2/SWS1 protein family from Saccharomyces cerevisiae to Homo sapiens. (PMID: 25659377) Godin SK … Bernstein KA (Genetics 2015) 3 58
  5. Interactome mapping suggests new mechanistic details underlying Alzheimer's disease. (PMID: 21163940) Soler-López M … Aloy P (Genome research 2011) 3 58

Products for SWSAP1 Gene

Sources for SWSAP1 Gene

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