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
