SWAP1_HUMAN
ID SWAP1_HUMAN Reviewed; 229 AA.
AC Q6NVH7; Q8NAM1;
DT 10-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 123.
DE RecName: Full=ATPase SWSAP1;
DE AltName: Full=SWIM-type zinc finger 7-associated protein 1;
DE AltName: Full=SWS1-associated protein 1;
DE AltName: Full=ZSWIM7-associated protein 1;
DE Short=ZSWIM7AP1;
GN Name=SWSAP1; Synonyms=C19orf39;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Placenta;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Spleen;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP FUNCTION IN HOMOLOGOUS RECOMBINATION REPAIR, SUBCELLULAR LOCATION, ATPASE
RP ACTIVITY, DNA-BINDING ACTIVITY, INTERACTION WITH RAD51; RAD51B; RAD51C;
RP RAD51D; XRCC3; ZSWIM7, AND MUTAGENESIS OF LYS-18 AND ASP-96.
RX PubMed=21965664; DOI=10.1074/jbc.m111.271080;
RA Liu T., Wan L., Wu Y., Chen J., Huang J.;
RT "hSWS1.SWSAP1 is an evolutionarily conserved complex required for efficient
RT homologous recombination repair.";
RL J. Biol. Chem. 286:41758-41766(2011).
CC -!- FUNCTION: ATPase which is preferentially stimulated by single-stranded
CC DNA and is involved in homologous recombination repair (HRR). Has a
CC DNA-binding activity which is independent of its ATPase activity.
CC {ECO:0000269|PubMed:21965664}.
CC -!- SUBUNIT: Interacts with ZSWIM7; they form a functional complex involved
CC in homologous recombination repair and stabilize each other. Interacts
CC with RAD51, RAD51B, RAD51C, RAD51D and XRCC3; involved in homologous
CC recombination repair. {ECO:0000269|PubMed:21965664}.
CC -!- INTERACTION:
CC Q6NVH7; Q7L775: EPM2AIP1; NbExp=3; IntAct=EBI-5281637, EBI-6255981;
CC Q6NVH7; Q06609: RAD51; NbExp=2; IntAct=EBI-5281637, EBI-297202;
CC Q6NVH7; O15315: RAD51B; NbExp=2; IntAct=EBI-5281637, EBI-2824089;
CC Q6NVH7; O43502: RAD51C; NbExp=2; IntAct=EBI-5281637, EBI-2267048;
CC Q6NVH7; O75771: RAD51D; NbExp=2; IntAct=EBI-5281637, EBI-1055693;
CC Q6NVH7; Q9NZD8: SPG21; NbExp=6; IntAct=EBI-5281637, EBI-742688;
CC Q6NVH7; O43542: XRCC3; NbExp=2; IntAct=EBI-5281637, EBI-2849976;
CC Q6NVH7; Q19AV6: ZSWIM7; NbExp=11; IntAct=EBI-5281637, EBI-5281647;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305|PubMed:21965664}.
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DR EMBL; AK092438; BAC03891.1; -; mRNA.
DR EMBL; AC024575; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC068071; AAH68071.1; -; mRNA.
DR EMBL; BC119677; AAI19678.1; -; mRNA.
DR RefSeq; NP_787067.2; NM_175871.3.
DR AlphaFoldDB; Q6NVH7; -.
DR BioGRID; 125954; 41.
DR IntAct; Q6NVH7; 11.
DR STRING; 9606.ENSP00000310008; -.
DR iPTMnet; Q6NVH7; -.
DR PhosphoSitePlus; Q6NVH7; -.
DR BioMuta; SWSAP1; -.
DR DMDM; 74736850; -.
DR EPD; Q6NVH7; -.
DR jPOST; Q6NVH7; -.
DR MassIVE; Q6NVH7; -.
DR MaxQB; Q6NVH7; -.
DR PaxDb; Q6NVH7; -.
DR PeptideAtlas; Q6NVH7; -.
DR PRIDE; Q6NVH7; -.
DR ProteomicsDB; 66719; -.
DR Antibodypedia; 53827; 56 antibodies from 12 providers.
DR DNASU; 126074; -.
DR Ensembl; ENST00000312423.4; ENSP00000310008.1; ENSG00000173928.4.
DR GeneID; 126074; -.
DR KEGG; hsa:126074; -.
DR UCSC; uc002mrg.2; human.
DR CTD; 126074; -.
DR DisGeNET; 126074; -.
DR GeneCards; SWSAP1; -.
DR HGNC; HGNC:26638; SWSAP1.
DR HPA; ENSG00000173928; Low tissue specificity.
DR MIM; 614536; gene.
DR neXtProt; NX_Q6NVH7; -.
DR OpenTargets; ENSG00000173928; -.
DR PharmGKB; PA144596472; -.
DR VEuPathDB; HostDB:ENSG00000173928; -.
DR eggNOG; ENOG502S62D; Eukaryota.
DR GeneTree; ENSGT00390000007170; -.
DR HOGENOM; CLU_099283_0_0_1; -.
DR InParanoid; Q6NVH7; -.
DR OMA; EMTITPW; -.
DR OrthoDB; 1081973at2759; -.
DR PhylomeDB; Q6NVH7; -.
DR TreeFam; TF337313; -.
DR PathwayCommons; Q6NVH7; -.
DR SignaLink; Q6NVH7; -.
DR BioGRID-ORCS; 126074; 12 hits in 1081 CRISPR screens.
DR GenomeRNAi; 126074; -.
DR Pharos; Q6NVH7; Tbio.
DR PRO; PR:Q6NVH7; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q6NVH7; protein.
DR Bgee; ENSG00000173928; Expressed in monocyte and 118 other tissues.
DR ExpressionAtlas; Q6NVH7; baseline and differential.
DR Genevisible; Q6NVH7; HS.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0097196; C:Shu complex; IDA:UniProtKB.
DR GO; GO:0016887; F:ATP hydrolysis activity; IDA:UniProtKB.
DR GO; GO:0003697; F:single-stranded DNA binding; IDA:UniProtKB.
DR GO; GO:0000724; P:double-strand break repair via homologous recombination; IMP:UniProtKB.
DR GO; GO:0050821; P:protein stabilization; IMP:UniProtKB.
DR Gene3D; 3.40.50.300; -; 1.
DR InterPro; IPR027417; P-loop_NTPase.
DR SUPFAM; SSF52540; SSF52540; 1.
PE 1: Evidence at protein level;
KW DNA damage; DNA recombination; DNA repair; DNA-binding; Nucleus;
KW Reference proteome.
FT CHAIN 1..229
FT /note="ATPase SWSAP1"
FT /id="PRO_0000294240"
FT REGION 209..229
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 171
FT /note="D -> G (in dbSNP:rs317926)"
FT /id="VAR_033151"
FT MUTAGEN 18
FT /note="K->A: Loss of function in HRR associated with
FT altered ssDNA-stimulated ATPase activity."
FT /evidence="ECO:0000269|PubMed:21965664"
FT MUTAGEN 96
FT /note="D->A: Loss of function in HRR associated with
FT altered ssDNA-stimulated ATPase activity."
FT /evidence="ECO:0000269|PubMed:21965664"
FT CONFLICT 113
FT /note="Y -> C (in Ref. 1; BAC03891)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 229 AA; 24311 MW; AB940178B7A4A6C6 CRC64;
MPAAGPPLLL LGTPGSGKTA LLFAAALEAA GEGQGPVLFL TRRPLQSMPR GTGTTLDPMR
LQKIRFQYPP STRELFRLLC SAHEAPGPAP SLLLLDGLEE YLAEDPEPQE AAYLIALLLD
TAAHFSHRLG PGRDCGLMVA LQTQEEAGSG DVLHLALLQR YFPAQCWLQP DAPGPGEHGL
RACLEPGGLG PRTEWWVTFR SDGEMMIAPW PTQAGDPSSG KGSSSGGQP
