ID   MACC1_HUMAN             Reviewed;         852 AA.
AC   Q6ZN28; A8MUS5; B2RNR9; Q6ZQN8; Q7Z5A5;
DT   08-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT   08-APR-2008, sequence version 2.
DT   24-JAN-2024, entry version 138.
DE   RecName: Full=Metastasis-associated in colon cancer protein 1;
DE   AltName: Full=SH3 domain-containing protein 7a5;
GN   Name=MACC1;
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 [MRNA], FUNCTION, SUBCELLULAR LOCATION, AND TISSUE
RP   SPECIFICITY.
RC   TISSUE=Colon carcinoma, and Trachea;
RX   PubMed=19098908; DOI=10.1038/nm.1889;
RA   Stein U., Walther W., Arlt F., Schwabe H., Smith J., Fichtner I.,
RA   Birchmeier W., Schlag P.M.;
RT   "MACC1, a newly identified key regulator of HGF-MET signaling, predicts
RT   colon cancer metastasis.";
RL   Nat. Med. 15:59-67(2009).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS VAL-31; LEU-515 AND
RP   THR-804.
RC   TISSUE=Tongue;
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=12690205; DOI=10.1126/science.1083423;
RA   Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA   Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA   Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA   Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D.,
RA   Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S.,
RA   Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R.,
RA   Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N.,
RA   Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E.,
RA   Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R.,
RA   Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T.,
RA   Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W.,
RA   Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A.,
RA   Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X.,
RA   Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E.,
RA   Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA   Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J.,
RA   Adams M.D., Tsui L.-C.;
RT   "Human chromosome 7: DNA sequence and biology.";
RL   Science 300:767-772(2003).
RN   [4]
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   [5]
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN   [6]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Lung;
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   [7]
RP   INTERACTION WITH FASLG.
RX   PubMed=19807924; DOI=10.1186/1471-2172-10-53;
RA   Voss M., Lettau M., Janssen O.;
RT   "Identification of SH3 domain interaction partners of human FasL (CD178) by
RT   phage display screening.";
RL   BMC Immunol. 10:53-53(2009).
RN   [8]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-19, AND IDENTIFICATION BY
RP   MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Erythroleukemia;
RX   PubMed=23186163; DOI=10.1021/pr300630k;
RA   Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA   Mohammed S.;
RT   "Toward a comprehensive characterization of a human cancer cell
RT   phosphoproteome.";
RL   J. Proteome Res. 12:260-271(2013).
CC   -!- FUNCTION: Acts as a transcription activator for MET and as a key
CC       regulator of HGF-MET signaling. Promotes cell motility, proliferation
CC       and hepatocyte growth factor (HGF)-dependent scattering in vitro and
CC       tumor growth and metastasis in vivo. {ECO:0000269|PubMed:19098908}.
CC   -!- SUBUNIT: Interacts with FASLG. {ECO:0000269|PubMed:19807924}.
CC   -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19098908}. Nucleus
CC       {ECO:0000269|PubMed:19098908}. Note=Mainly found in the cytoplasm in
CC       non-metastasizing tumors.
CC   -!- TISSUE SPECIFICITY: Preferentially expressed in metastasizing tumors.
CC       {ECO:0000269|PubMed:19098908}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=BAC87646.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC       Sequence=EAW93719.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR   EMBL; AJ313524; CAC86408.1; -; mRNA.
DR   EMBL; AK128850; BAC87646.1; ALT_INIT; mRNA.
DR   EMBL; AK131400; BAD18547.1; -; mRNA.
DR   EMBL; CH236948; EAL24276.1; -; Genomic_DNA.
DR   EMBL; AC007001; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471073; EAW93719.1; ALT_SEQ; Genomic_DNA.
DR   EMBL; BC137090; AAI37091.1; -; mRNA.
DR   CCDS; CCDS5369.1; -.
DR   RefSeq; NP_877439.3; NM_182762.3.
DR   AlphaFoldDB; Q6ZN28; -.
DR   BioGRID; 131381; 16.
DR   IntAct; Q6ZN28; 5.
DR   MINT; Q6ZN28; -.
DR   STRING; 9606.ENSP00000383185; -.
DR   iPTMnet; Q6ZN28; -.
DR   PhosphoSitePlus; Q6ZN28; -.
DR   BioMuta; MACC1; -.
DR   DMDM; 182627616; -.
DR   EPD; Q6ZN28; -.
DR   jPOST; Q6ZN28; -.
DR   MassIVE; Q6ZN28; -.
DR   MaxQB; Q6ZN28; -.
DR   PaxDb; 9606-ENSP00000383185; -.
DR   PeptideAtlas; Q6ZN28; -.
DR   ProteomicsDB; 67968; -.
DR   Pumba; Q6ZN28; -.
DR   Antibodypedia; 11924; 218 antibodies from 33 providers.
DR   DNASU; 346389; -.
DR   Ensembl; ENST00000332878.8; ENSP00000328410.4; ENSG00000183742.13.
DR   Ensembl; ENST00000400331.10; ENSP00000383185.3; ENSG00000183742.13.
DR   Ensembl; ENST00000589011.1; ENSP00000466864.1; ENSG00000183742.13.
DR   GeneID; 346389; -.
DR   KEGG; hsa:346389; -.
DR   MANE-Select; ENST00000400331.10; ENSP00000383185.3; NM_182762.4; NP_877439.3.
DR   UCSC; uc003sus.5; human.
DR   AGR; HGNC:30215; -.
DR   CTD; 346389; -.
DR   DisGeNET; 346389; -.
DR   GeneCards; MACC1; -.
DR   HGNC; HGNC:30215; MACC1.
DR   HPA; ENSG00000183742; Tissue enhanced (intestine).
DR   MIM; 612646; gene.
DR   neXtProt; NX_Q6ZN28; -.
DR   OpenTargets; ENSG00000183742; -.
DR   PharmGKB; PA164722150; -.
DR   VEuPathDB; HostDB:ENSG00000183742; -.
DR   eggNOG; ENOG502QZDM; Eukaryota.
DR   GeneTree; ENSGT00390000013151; -.
DR   HOGENOM; CLU_013080_1_0_1; -.
DR   InParanoid; Q6ZN28; -.
DR   OMA; PPMLNHD; -.
DR   OrthoDB; 4019548at2759; -.
DR   PhylomeDB; Q6ZN28; -.
DR   TreeFam; TF105572; -.
DR   PathwayCommons; Q6ZN28; -.
DR   SignaLink; Q6ZN28; -.
DR   SIGNOR; Q6ZN28; -.
DR   BioGRID-ORCS; 346389; 14 hits in 1160 CRISPR screens.
DR   ChiTaRS; MACC1; human.
DR   GenomeRNAi; 346389; -.
DR   Pharos; Q6ZN28; Tbio.
DR   PRO; PR:Q6ZN28; -.
DR   Proteomes; UP000005640; Chromosome 7.
DR   RNAct; Q6ZN28; Protein.
DR   Bgee; ENSG00000183742; Expressed in nasal cavity epithelium and 98 other cell types or tissues.
DR   GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR   GO; GO:0005739; C:mitochondrion; IDA:HPA.
DR   GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR   GO; GO:0008083; F:growth factor activity; IEA:UniProtKB-KW.
DR   GO; GO:0051781; P:positive regulation of cell division; IEA:UniProtKB-KW.
DR   GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:NTNU_SB.
DR   CDD; cd01670; Death; 1.
DR   Gene3D; 2.60.220.30; -; 1.
DR   InterPro; IPR001452; SH3_domain.
DR   InterPro; IPR000906; ZU5_dom.
DR   PANTHER; PTHR15603:SF1; METASTASIS-ASSOCIATED IN COLON CANCER PROTEIN 1; 1.
DR   PANTHER; PTHR15603; SH3 DOMAIN-CONTAINING PROTEIN; 1.
DR   PROSITE; PS50002; SH3; 1.
DR   PROSITE; PS51145; ZU5; 1.
DR   Genevisible; Q6ZN28; HS.
PE   1: Evidence at protein level;
KW   Activator; Cytoplasm; Growth factor; Mitogen; Nucleus; Phosphoprotein;
KW   Reference proteome; SH3 domain; Transcription; Transcription regulation.
FT   CHAIN           1..852
FT                   /note="Metastasis-associated in colon cancer protein 1"
FT                   /id="PRO_0000329032"
FT   DOMAIN          212..349
FT                   /note="ZU5"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00485"
FT   DOMAIN          549..619
FT                   /note="SH3"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00192"
FT   MOD_RES         19
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0007744|PubMed:23186163"
FT   VARIANT         31
FT                   /note="L -> V (in dbSNP:rs4721888)"
FT                   /evidence="ECO:0000269|PubMed:14702039"
FT                   /id="VAR_042620"
FT   VARIANT         50
FT                   /note="P -> L (in dbSNP:rs17142503)"
FT                   /id="VAR_042621"
FT   VARIANT         515
FT                   /note="S -> L (in dbSNP:rs975263)"
FT                   /evidence="ECO:0000269|PubMed:14702039"
FT                   /id="VAR_042622"
FT   VARIANT         728
FT                   /note="E -> A (in dbSNP:rs12671170)"
FT                   /id="VAR_042623"
FT   VARIANT         804
FT                   /note="R -> T (in dbSNP:rs3735615)"
FT                   /evidence="ECO:0000269|PubMed:14702039"
FT                   /id="VAR_042624"
FT   CONFLICT        171
FT                   /note="L -> P (in Ref. 2; BAD18547)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        264
FT                   /note="D -> N (in Ref. 2; BAD18547)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        383
FT                   /note="S -> N (in Ref. 2; BAD18547)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   852 AA;  96639 MW;  9272110E1F91489A CRC64;
     MLITERKHFR SGRIAQSMSE ANLIDMEAGK LSKSCNITEC QDPDLLHNWP DAFTLRGNNA
     SKVANPFWNQ LSASNPFLDD ITQLRNNRKR NNISILKEDP FLFCREIENG NSFDSSGDEL
     DVHQLLRQTS SRNSGRSKSV SELLDILDDT AHAHQSIHNS DQILLHDLEW LKNDREAYKM
     AWLSQRQLAR SCLDLNTISQ SPGWAQTQLA EVTIACKVNH QGGSVQLPES DITVHVPQGH
     VAVGEFQEVS LRAFLDPPHM LNHDLSCTVS PLLEIMLGNL NTMEALLLEM KIGAEVRKDP
     FSQVMTEMVC LHSLGKEGPF KVLSNCYIYK DTIQVKLIDL SQVMYLVVAA QAKALPSPAA
     TIWDYIHKTT SIGIYGPKYI HPSFTVVLTV CGHNYMPGQL TISDIKKGGK NISPVVFQLW
     GKQSFLLDKP QDLSISIFSC DPDFEVKTEG ERKEIKQKQL EAGEVVHQQF LFSLVEHREM
     HLFDFCVQVE PPNGEPVAQF SITTPDPTPN LKRLSNLPGY LQKKEEIKSA PLSPKILVKY
     PTFQDKTLNF SNYGVTLKAV LRQSKIDYFL EYFKGDTIAL LGEGKVKAIG QSKVKEWYVG
     VLRGKIGLVH CKNVKVISKE QVMFMSDSVF TTRNLLEQIV LPLKKLTYIY SVVLTLVSEK
     VYDWKVLADV LGYSHLSLED FDQIQADKES EKVSYVIKKL KEDCHTERNT RKFLYELIVA
     LLKMDCQELV ARLIQEAAVL TSAVKLGKGW RELAEKLVRL TKQQMEAYEI PHRGNTGDVA
     VEMMWKPAYD FLYTWSAHYG NNYRDVLQDL QSALDRMKNP VTKHWRELTG VLILVNSLEV
     LRVTAFSTSE EV
//