ID   AP5S1_HUMAN             Reviewed;         200 AA.
AC   Q9NUS5; B3KSD0; D3DVY7;
DT   19-SEP-2002, integrated into UniProtKB/Swiss-Prot.
DT   01-OCT-2000, sequence version 1.
DT   03-AUG-2022, entry version 136.
DE   RecName: Full=AP-5 complex subunit sigma-1;
DE   AltName: Full=Adaptor-related protein complex 5 sigma subunit;
DE            Short=Sigma5;
GN   Name=AP5S1; Synonyms=C20orf29;
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, and Testis;
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=11780052; DOI=10.1038/414865a;
RA   Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA   Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA   Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA   Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA   Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA   Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA   Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA   Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA   Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA   Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA   Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA   Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA   Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA   Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA   Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA   Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA   Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA   Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA   Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA   Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA   Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA   Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA   Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT   "The DNA sequence and comparative analysis of human chromosome 20.";
RL   Nature 414:865-871(2001).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA   Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA   Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA   Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA   Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA   Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA   Hunkapiller M.W., Myers E.W., Venter J.C.;
RL   Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Lymph;
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   [5]
RP   FUNCTION, AND INTERACTION WITH AP5Z1; AP5B1; ZFYVE26 AND SPG11.
RX   PubMed=20613862; DOI=10.1371/journal.pbio.1000408;
RA   Slabicki M., Theis M., Krastev D.B., Samsonov S., Mundwiller E.,
RA   Junqueira M., Paszkowski-Rogacz M., Teyra J., Heninger A.K., Poser I.,
RA   Prieur F., Truchetto J., Confavreux C., Marelli C., Durr A.,
RA   Camdessanche J.P., Brice A., Shevchenko A., Pisabarro M.T., Stevanin G.,
RA   Buchholz F.;
RT   "A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene
RT   associated with hereditary spastic paraplegia.";
RL   PLoS Biol. 8:E1000408-E1000408(2010).
RN   [6]
RP   FUNCTION IN ENDOSOME TRANSPORT, IDENTIFICATION AS PART OF AP-5, SUBCELLULAR
RP   LOCATION, AND INTERACTION WITH AP5B1 AND AP5M1.
RX   PubMed=22022230; DOI=10.1371/journal.pbio.1001170;
RA   Hirst J., Barlow L.D., Francisco G.C., Sahlender D.A., Seaman M.N.,
RA   Dacks J.B., Robinson M.S.;
RT   "The fifth adaptor protein complex.";
RL   PLoS Biol. 9:E1001170-E1001170(2011).
CC   -!- FUNCTION: As part of AP-5, a probable fifth adaptor protein complex it
CC       may be involved in endosomal transport. According to PubMed:20613862,
CC       it is required for efficient homologous recombination DNA double-strand
CC       break repair. {ECO:0000269|PubMed:20613862,
CC       ECO:0000269|PubMed:22022230}.
CC   -!- SUBUNIT: Probably part of the adaptor protein complex 5 (AP-5) a
CC       tetramer composed of AP5B1, AP5M1, AP5S1 and AP5Z1. Interacts with
CC       ZFYVE26 and SPG11. {ECO:0000269|PubMed:20613862,
CC       ECO:0000269|PubMed:22022230}.
CC   -!- SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:22022230}.
CC       Late endosome membrane {ECO:0000305|PubMed:22022230}; Peripheral
CC       membrane protein {ECO:0000305|PubMed:22022230}; Cytoplasmic side
CC       {ECO:0000305|PubMed:22022230}. Lysosome membrane
CC       {ECO:0000305|PubMed:22022230}; Peripheral membrane protein
CC       {ECO:0000305|PubMed:22022230}; Cytoplasmic side
CC       {ECO:0000305|PubMed:22022230}.
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DR   EMBL; AK002030; BAA92045.1; -; mRNA.
DR   EMBL; AK093332; BAG52692.1; -; mRNA.
DR   EMBL; AL109804; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471133; EAX10483.1; -; Genomic_DNA.
DR   EMBL; CH471133; EAX10484.1; -; Genomic_DNA.
DR   EMBL; CH471133; EAX10485.1; -; Genomic_DNA.
DR   EMBL; CH471133; EAX10486.1; -; Genomic_DNA.
DR   EMBL; BC043344; AAH43344.1; -; mRNA.
DR   CCDS; CCDS13070.1; -.
DR   RefSeq; NP_001191375.1; NM_001204446.1.
DR   RefSeq; NP_001191376.1; NM_001204447.1.
DR   RefSeq; NP_060817.1; NM_018347.2.
DR   AlphaFoldDB; Q9NUS5; -.
DR   BioGRID; 120599; 21.
DR   ComplexPortal; CPX-5181; AP-5 Adaptor complex.
DR   CORUM; Q9NUS5; -.
DR   DIP; DIP-60182N; -.
DR   IntAct; Q9NUS5; 2.
DR   STRING; 9606.ENSP00000481750; -.
DR   iPTMnet; Q9NUS5; -.
DR   PhosphoSitePlus; Q9NUS5; -.
DR   BioMuta; AP5S1; -.
DR   DMDM; 23396535; -.
DR   EPD; Q9NUS5; -.
DR   jPOST; Q9NUS5; -.
DR   MassIVE; Q9NUS5; -.
DR   MaxQB; Q9NUS5; -.
DR   PaxDb; Q9NUS5; -.
DR   PeptideAtlas; Q9NUS5; -.
DR   PRIDE; Q9NUS5; -.
DR   ProteomicsDB; 82717; -.
DR   Antibodypedia; 64737; 11 antibodies from 7 providers.
DR   DNASU; 55317; -.
DR   Ensembl; ENST00000246041.6; ENSP00000246041.2; ENSG00000125843.11.
DR   Ensembl; ENST00000379567.6; ENSP00000368886.2; ENSG00000125843.11.
DR   Ensembl; ENST00000615891.2; ENSP00000481750.1; ENSG00000125843.11.
DR   GeneID; 55317; -.
DR   KEGG; hsa:55317; -.
DR   MANE-Select; ENST00000615891.2; ENSP00000481750.1; NM_018347.3; NP_060817.1.
DR   UCSC; uc002wjs.3; human.
DR   CTD; 55317; -.
DR   GeneCards; AP5S1; -.
DR   HGNC; HGNC:15875; AP5S1.
DR   HPA; ENSG00000125843; Low tissue specificity.
DR   MIM; 614824; gene.
DR   neXtProt; NX_Q9NUS5; -.
DR   OpenTargets; ENSG00000125843; -.
DR   PharmGKB; PA25744; -.
DR   VEuPathDB; HostDB:ENSG00000125843; -.
DR   eggNOG; ENOG502RZ3F; Eukaryota.
DR   GeneTree; ENSGT00390000013178; -.
DR   HOGENOM; CLU_114672_1_0_1; -.
DR   InParanoid; Q9NUS5; -.
DR   OMA; NHRFAQS; -.
DR   OrthoDB; 1469638at2759; -.
DR   PhylomeDB; Q9NUS5; -.
DR   TreeFam; TF332332; -.
DR   PathwayCommons; Q9NUS5; -.
DR   SignaLink; Q9NUS5; -.
DR   BioGRID-ORCS; 55317; 10 hits in 1082 CRISPR screens.
DR   GenomeRNAi; 55317; -.
DR   Pharos; Q9NUS5; Tdark.
DR   PRO; PR:Q9NUS5; -.
DR   Proteomes; UP000005640; Chromosome 20.
DR   RNAct; Q9NUS5; protein.
DR   Bgee; ENSG00000125843; Expressed in biceps brachii and 150 other tissues.
DR   ExpressionAtlas; Q9NUS5; baseline and differential.
DR   Genevisible; Q9NUS5; HS.
DR   GO; GO:0044599; C:AP-5 adaptor complex; IC:ComplexPortal.
DR   GO; GO:0030119; C:AP-type membrane coat adaptor complex; IDA:UniProtKB.
DR   GO; GO:0005829; C:cytosol; IDA:HPA.
DR   GO; GO:0005770; C:late endosome; IDA:UniProtKB.
DR   GO; GO:0031902; C:late endosome membrane; IEA:UniProtKB-SubCell.
DR   GO; GO:0005765; C:lysosomal membrane; IEA:UniProtKB-SubCell.
DR   GO; GO:0005764; C:lysosome; IDA:UniProtKB.
DR   GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR   GO; GO:0000724; P:double-strand break repair via homologous recombination; IMP:UniProtKB.
DR   GO; GO:0016197; P:endosomal transport; IMP:UniProtKB.
DR   GO; GO:0015031; P:protein transport; IEA:UniProtKB-KW.
DR   GO; GO:0016192; P:vesicle-mediated transport; IC:ComplexPortal.
DR   InterPro; IPR029392; AP-5_subunit_s1.
DR   PANTHER; PTHR16120; PTHR16120; 1.
DR   Pfam; PF15001; AP-5_subunit_s1; 1.
PE   1: Evidence at protein level;
KW   Cytoplasm; DNA damage; DNA repair; Endosome; Lysosome; Membrane;
KW   Protein transport; Reference proteome; Transport.
FT   CHAIN           1..200
FT                   /note="AP-5 complex subunit sigma-1"
FT                   /id="PRO_0000079423"
SQ   SEQUENCE   200 AA;  22522 MW;  B007496045724E34 CRC64;
     MVHAFLIHTL RAPNTEDTGL CRVLYSCVFG AEKSPDDPRP HGAERDRLLR KEQILAVARQ
     VESMCRLQQQ ASGRPPMDLQ PQSSDEQVPL HEAPRGAFRL AAENPFQEPR TVVWLGVLSL
     GFALVLDAHE NLLLAEGTLR LLTRLLLDHL RLLAPSTSLL LRADRIEGIL TRFLPHGQLL
     FLNDQFVQGL EKEFSAAWPR