SWSAP1
entrez
126074
canonical
uniprot
Q6NVH7
canonical
ensembl
ENSG00000173928
resolver
ensp
ENSP00000310008
resolver
ensp
ENSP00000501355
resolver
enst
ENST00000312423
resolver
genesymbol
SWSAP1
resolver
genesymbol_syn
C19orf39
resolver
hgnc
HGNC:26638
resolver
uniprot
A0A6I8PRB2
resolver
uniprot
Q8NAM1
resolver
uniprot_entry
SWAP1_HUMAN
resolver
uniprot_sec
A0A6I8PRB2
resolver
uniprot_sec
Q8NAM1
resolver
amino_acid_sequence
MAETLRRVLTRGGAAWSGEENMPAAGPPLLLLGTPGSGKTALLFAAALEAAGEGQGPVLFLTRRPLQSMPRGTGTTLDPMRLQKIRFQYPPSTRELFRLLCSAHEAPGPAPSLLLLDGLEEYLAEDPEPQEAAYLIALLLDTAAHFSHRLGPGRDCGLMVALQTQEEAGSGDVLHLALLQRYFPAQCWLQPDAPGPGEHGLRACLEPGGLGPRTEWWVTFRSDGEMMIAPWPTQAGDPSSGKGSSSGGQP
uniprot
proteins
disease_involvement
DISEASE: Note=Ovarian dysgenesis (PubMed:40991243). An autosomal recessive form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, dysgenic ovaries and hypergonadotropic hypogonadism as a result of streak gonads (PubMed:40991243). The disease is caused by variants affecting the gene represented in this entry (PubMed:40991243). {ECO:0000269|PubMed:40991243}.
uniprot
proteins
ec_number
3.6.4.-
uniprot
proteins
function
FUNCTION: Single-stranded DNA-stimulated ATPase involved in DNA double-strand break (DSB) repair via homologous recombination (HR) (PubMed:21965664, PubMed:34253720, PubMed:39169038, PubMed:40345587). Forms a heterodimeric complex with ZSWIM7/SWS1 that promotes HR by regulating replication protein-A (RPA) dynamics on single-stranded DNA, thereby stabilizing RAD51 and DMC1 filaments on DNA (PubMed:34253720, PubMed:39169038, PubMed:40345587). The SWSAP1-ZSWIM7/SWS1 heterodimer is essential during meiosis by stabilizing DMC1 filaments (By similarity). In contrast, it is critical for only certain types of homologous-directed DNA repair, such as inter-homolog homologous recombination (IR-HR) (PubMed:34253720). IR-HR is a DNA repair mechanism where a cell repairs a DSB on one chromosome using the matching homologous chromosome as a template, rather than the sister chromatid (PubMed:34253720). Also promotes homologous recombination by inactivating the FIGNL1-FIRRM complex to protect RAD51 filament from premature disassembly (PubMed:30926776). Has a DNA-binding activity which is independent of its ATPase activity: preferentially binds DNA with an exposed 5' end (PubMed:40345587). {ECO:0000250|UniProtKB:Q8VCI7, ECO:0000269|PubMed:21965664, ECO:0000269|PubMed:30926776, ECO:0000269|PubMed:34253720, ECO:0000269|PubMed:39169038, ECO:0000269|PubMed:40345587}.
uniprot
proteins
mass_dalton
26597
uniprot
proteins
mutagenesis
MUTAGEN 39; /note="K->A: Loss of ATPase activity. Does not affect ability to promote DNA repair via inter-homolog homologous recombination (IR-HR)."; /evidence="ECO:0000269|PubMed:21965664, ECO:0000269|PubMed:34253720, ECO:0000269|PubMed:40345587"; MUTAGEN 44..47; /note="FAAA->EAAE: Abolished interaction with RAD51 and ability to promote DNA repair via homologous recombination."; /evidence="ECO:0000269|PubMed:30926776"; MUTAGEN 44; /note="F->A: Abolished ability to promote DNA repair via inter-homolog homologous recombination (IR-HR)."; /evidence="ECO:0000269|PubMed:34253720"; MUTAGEN 117; /note="D->A: Loss of ATPase activity. Does not affect ability to promote DNA repair via inter-homolog homologous recombination (IR-HR)."; /evidence="ECO:0000269|PubMed:21965664, ECO:0000269|PubMed:34253720, ECO:0000269|PubMed:40345587
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21965664
uniprot
proteins
pubmed
30926776
uniprot
proteins
pubmed
34253720
uniprot
proteins
pubmed
39169038
uniprot
proteins
pubmed
40345587
uniprot
proteins
pubmed
40991243
uniprot
proteins
sequence_length
250
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Chromosome {ECO:0000305|PubMed:21965664}. Nucleus {ECO:0000305|PubMed:21965664}.
uniprot
proteins