Gene Gene information from NCBI Gene database.
Entrez ID 126074
Gene name SWIM-type zinc finger 7 associated protein 1
Gene symbol SWSAP1
Synonyms (NCBI Gene)
C19orf39SWS1AP1ZSWIM7AP1
Chromosome 19
Chromosome location 19p13.2
miRNA miRNA information provided by mirtarbase database.
144
miRTarBase ID miRNA Experiments Reference
MIRT632350 hsa-miR-125a-3p HITS-CLIP 23824327
MIRT632349 hsa-miR-764 HITS-CLIP 23824327
MIRT632348 hsa-miR-3934-5p HITS-CLIP 23824327
MIRT632347 hsa-miR-4421 HITS-CLIP 23824327
MIRT632346 hsa-miR-5699-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0000724 Process Double-strand break repair via homologous recombination IBA
GO:0000724 Process Double-strand break repair via homologous recombination IMP 21965664
GO:0003677 Function DNA binding IEA
GO:0003697 Function Single-stranded DNA binding IBA
GO:0003697 Function Single-stranded DNA binding IDA 21965664
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614536 26638 ENSG00000173928
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6NVH7
Protein name ATPase SWSAP1 (SWIM-type zinc finger 7-associated protein 1) (SWS1-associated protein 1) (ZSWIM7-associated protein 1) (ZSWIM7AP1)
Protein 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.
Family and domains
Sequence
MPAAGPPLLLLGTPGSGKTALLFAAALEAAGEGQGPVLFLTRRPLQSMPRGTGTTLDPMR
LQKIRFQYPPSTRELFRLLCSAHEAPGPAPSLLLLDGLEEYLAEDPEPQEAAYLIALLLD
TAAHFSHRLGPGRDCGLMVALQTQEEAGSGDVLHLALLQRYFPAQCWLQPDAPGPGEHGL
RACLEPGGLGPRTEWWVTFRSDGEMMIAPWPTQAGDPSSGKGSSSGGQP
Sequence length 229
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
MYOCARDIAL INFARCTION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations