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AMZ1_HUMAN
ID   AMZ1_HUMAN              Reviewed;         498 AA.
AC   Q400G9; B3KRS0; Q8TF51;
DT   10-JAN-2006, integrated into UniProtKB/Swiss-Prot.
DT   27-SEP-2005, sequence version 1.
DT   03-AUG-2022, entry version 126.
DE   RecName: Full=Archaemetzincin-1;
DE            EC=3.4.-.- {ECO:0000250|UniProtKB:Q8TXW1};
DE   AltName: Full=Archeobacterial metalloproteinase-like protein 1;
GN   Name=AMZ1; Synonyms=KIAA1950;
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] (ISOFORM 1).
RC   TISSUE=Brain;
RX   PubMed=11853319; DOI=10.1093/dnares/8.6.319;
RA   Nagase T., Kikuno R., Ohara O.;
RT   "Prediction of the coding sequences of unidentified human genes. XXII. The
RT   complete sequences of 50 new cDNA clones which code for large proteins.";
RL   DNA Res. 8:319-327(2001).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=12853948; DOI=10.1038/nature01782;
RA   Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
RA   Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K.,
RA   Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A.,
RA   Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H.,
RA   Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A.,
RA   Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P.,
RA   Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M.,
RA   Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S.,
RA   Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R.,
RA   Strowmatt C., Latreille P., Miller N., Johnson D., Murray J.,
RA   Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W.,
RA   Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E.,
RA   Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A.,
RA   Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
RA   Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E.,
RA   Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A.,
RA   Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A.,
RA   Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R.,
RA   McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H.,
RA   Wilson R.K.;
RT   "The DNA sequence of human chromosome 7.";
RL   Nature 424:157-164(2003).
RN   [4]
RP   RETRACTED PAPER.
RX   PubMed=15972818; DOI=10.1074/jbc.m504533200;
RA   Diaz-Perales A., Quesada V., Peinado J.R., Ugalde A.P., Alvarez J.,
RA   Suarez M.F., Gomis-Rueth X., Lopez-Otin C.;
RT   "Identification and characterization of human archaemetzincin-1 and - 2,
RT   two novel members of a family of metalloproteases widely distributed in
RT   Archaea.";
RL   J. Biol. Chem. 280:30367-30375(2005).
RN   [5]
RP   RETRACTION NOTICE OF PUBMED:15972818.
RX   PubMed=30808005; DOI=10.1074/jbc.w118.007328;
RA   Diaz-Perales A., Quesada V., Peinado J.R., Ugalde A.P., Alvarez J.,
RA   Suarez M.F., Gomis-Rueth F.X., Lopez-Otin C.;
RL   J. Biol. Chem. 294:1434-1434(2019).
CC   -!- FUNCTION: Probable zinc metalloprotease.
CC       {ECO:0000250|UniProtKB:Q8TXW1}.
CC   -!- COFACTOR:
CC       Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
CC         Evidence={ECO:0000250|UniProtKB:Q8TXW1};
CC       Note=Binds 2 Zn(2+) ions per subunit. One is catalytic, whereas the
CC       other seems to have a structural role. {ECO:0000250|UniProtKB:Q8TXW1};
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q400G9-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q400G9-2; Sequence=VSP_055187, VSP_055188;
CC   -!- SIMILARITY: Belongs to the peptidase M54 family. {ECO:0000305}.
CC   -!- CAUTION: An article reported the identification and characterization of
CC       this protein as zinc metalloprotease in different tissues; however,
CC       this paper was later retracted. {ECO:0000269|PubMed:15972818,
CC       ECO:0000305|PubMed:30808005}.
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DR   EMBL; AJ635357; CAG25749.1; -; mRNA.
DR   EMBL; AB075830; BAB85536.2; -; mRNA.
DR   EMBL; AK092107; BAG52482.1; -; mRNA.
DR   EMBL; AC006028; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   CCDS; CCDS34589.1; -. [Q400G9-1]
DR   CCDS; CCDS64582.1; -. [Q400G9-2]
DR   RefSeq; NP_001271284.1; NM_001284355.2. [Q400G9-2]
DR   RefSeq; NP_001308695.1; NM_001321766.1.
DR   RefSeq; NP_597720.1; NM_133463.3. [Q400G9-1]
DR   RefSeq; XP_011513452.1; XM_011515150.2.
DR   AlphaFoldDB; Q400G9; -.
DR   SMR; Q400G9; -.
DR   BioGRID; 127579; 55.
DR   IntAct; Q400G9; 12.
DR   STRING; 9606.ENSP00000308149; -.
DR   MEROPS; M54.003; -.
DR   iPTMnet; Q400G9; -.
DR   PhosphoSitePlus; Q400G9; -.
DR   BioMuta; AMZ1; -.
DR   DMDM; 85540611; -.
DR   MassIVE; Q400G9; -.
DR   PaxDb; Q400G9; -.
DR   PeptideAtlas; Q400G9; -.
DR   PRIDE; Q400G9; -.
DR   ProteomicsDB; 3612; -.
DR   ProteomicsDB; 61924; -. [Q400G9-1]
DR   Antibodypedia; 11135; 54 antibodies from 18 providers.
DR   DNASU; 155185; -.
DR   Ensembl; ENST00000312371.8; ENSP00000308149.4; ENSG00000174945.14. [Q400G9-1]
DR   Ensembl; ENST00000407112.1; ENSP00000386020.1; ENSG00000174945.14. [Q400G9-2]
DR   Ensembl; ENST00000683327.1; ENSP00000506962.1; ENSG00000174945.14. [Q400G9-1]
DR   GeneID; 155185; -.
DR   KEGG; hsa:155185; -.
DR   MANE-Select; ENST00000683327.1; ENSP00000506962.1; NM_001384743.1; NP_001371672.1.
DR   UCSC; uc003smr.3; human. [Q400G9-1]
DR   CTD; 155185; -.
DR   DisGeNET; 155185; -.
DR   GeneCards; AMZ1; -.
DR   HGNC; HGNC:22231; AMZ1.
DR   HPA; ENSG00000174945; Tissue enriched (brain).
DR   MIM; 615168; gene.
DR   neXtProt; NX_Q400G9; -.
DR   OpenTargets; ENSG00000174945; -.
DR   PharmGKB; PA162376413; -.
DR   VEuPathDB; HostDB:ENSG00000174945; -.
DR   eggNOG; ENOG502QV2Q; Eukaryota.
DR   GeneTree; ENSGT00530000063996; -.
DR   HOGENOM; CLU_029710_0_0_1; -.
DR   InParanoid; Q400G9; -.
DR   OMA; IEEHGRW; -.
DR   PhylomeDB; Q400G9; -.
DR   TreeFam; TF328603; -.
DR   PathwayCommons; Q400G9; -.
DR   SignaLink; Q400G9; -.
DR   BioGRID-ORCS; 155185; 15 hits in 1065 CRISPR screens.
DR   ChiTaRS; AMZ1; human.
DR   GenomeRNAi; 155185; -.
DR   Pharos; Q400G9; Tdark.
DR   PRO; PR:Q400G9; -.
DR   Proteomes; UP000005640; Chromosome 7.
DR   RNAct; Q400G9; protein.
DR   Bgee; ENSG00000174945; Expressed in amygdala and 134 other tissues.
DR   ExpressionAtlas; Q400G9; baseline and differential.
DR   Genevisible; Q400G9; HS.
DR   GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR   GO; GO:0008237; F:metallopeptidase activity; IEA:UniProtKB-KW.
DR   GO; GO:0006508; P:proteolysis; IEA:UniProtKB-KW.
DR   CDD; cd11375; Peptidase_M54; 1.
DR   Gene3D; 3.40.390.10; -; 1.
DR   InterPro; IPR024079; MetalloPept_cat_dom_sf.
DR   InterPro; IPR012962; Pept_M54_archaemetzincn.
DR   PROSITE; PS00142; ZINC_PROTEASE; 1.
PE   2: Evidence at transcript level;
KW   Alternative splicing; Hydrolase; Metal-binding; Metalloprotease; Protease;
KW   Reference proteome; Zinc.
FT   CHAIN           1..498
FT                   /note="Archaemetzincin-1"
FT                   /id="PRO_0000159614"
FT   REGION          332..381
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        356..372
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   ACT_SITE        262
FT                   /note="Proton acceptor"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU10095"
FT   BINDING         261
FT                   /ligand="Zn(2+)"
FT                   /ligand_id="ChEBI:CHEBI:29105"
FT                   /ligand_label="1"
FT                   /ligand_note="catalytic"
FT                   /evidence="ECO:0000250|UniProtKB:Q8TXW1"
FT   BINDING         265
FT                   /ligand="Zn(2+)"
FT                   /ligand_id="ChEBI:CHEBI:29105"
FT                   /ligand_label="1"
FT                   /ligand_note="catalytic"
FT                   /evidence="ECO:0000250|UniProtKB:Q8TXW1"
FT   BINDING         272
FT                   /ligand="Zn(2+)"
FT                   /ligand_id="ChEBI:CHEBI:29105"
FT                   /ligand_label="2"
FT                   /evidence="ECO:0000250|UniProtKB:Q8TXW1"
FT   BINDING         277
FT                   /ligand="Zn(2+)"
FT                   /ligand_id="ChEBI:CHEBI:29105"
FT                   /ligand_label="2"
FT                   /evidence="ECO:0000250|UniProtKB:Q8TXW1"
FT   BINDING         296
FT                   /ligand="Zn(2+)"
FT                   /ligand_id="ChEBI:CHEBI:29105"
FT                   /ligand_label="2"
FT                   /evidence="ECO:0000250|UniProtKB:Q8TXW1"
FT   BINDING         299
FT                   /ligand="Zn(2+)"
FT                   /ligand_id="ChEBI:CHEBI:29105"
FT                   /ligand_label="2"
FT                   /evidence="ECO:0000250|UniProtKB:Q8TXW1"
FT   VAR_SEQ         201..297
FT                   /note="EVGVCSFARFSGEFPKSGPSAPDLALVEAAADGPEAPLQDRGWALCFSALGM
FT                   VQCCKVTCHELCHLLGLGNCRWLRCLMQGALSLDEALRRPLDLCP -> GHVPRALPPS
FT                   GPGELPLAPLPHAGCAQPGRGPAAAPGPLSHLPEEAAACPGFQAHREVPETLHLDSGGG
FT                   GDVAQPGGGGAVSVGGHPACQRRLGHVL (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_055187"
FT   VAR_SEQ         298..498
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_055188"
FT   VARIANT         491
FT                   /note="R -> H (in dbSNP:rs7776970)"
FT                   /id="VAR_024849"
SQ   SEQUENCE   498 AA;  54924 MW;  64FB132F82CB0E0C CRC64;
     MLQCRPAQEF SFGPRALKDA LVSTDAALQQ LYVSAFSPAE RLFLAEAYNP QRTLFCTLLI
     RTGFDWLLSR PEAPEDFQTF HASLQHRKPR LARKHIYLQP IDLSEEPVGS SLLHQLCSCT
     EAFFLGLRVK CLPSVAAASI RCSSRPSRDS DRLQLHTDGI LSFLKNNKPG DALCVLGLTL
     SDLYPHEAWS FTFSKFLPGH EVGVCSFARF SGEFPKSGPS APDLALVEAA ADGPEAPLQD
     RGWALCFSAL GMVQCCKVTC HELCHLLGLG NCRWLRCLMQ GALSLDEALR RPLDLCPICL
     RKLQHVLGFR LIERYQRLYT WTQAVVGTWP SQEAGEPSVW EDTPPASADS GMCCESDSEP
     GTSVSEPLTP DAGSHTFASG PEEGLSYLAA SEAPLPPGGP AEAIKEHERW LAMCIQALQR
     EVAEEDLVQV DRAVDALDRW EMFTGQLPAT RQDPPSSRDS VGLRKVLGDK FSSLRRKLSA
     RKLARAESAP RPWDGEES
 
 
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