MACC1_HUMAN
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 03-AUG-2022, entry version 130.
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; 15.
DR IntAct; Q6ZN28; 4.
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; Q6ZN28; -.
DR PeptideAtlas; Q6ZN28; -.
DR PRIDE; Q6ZN28; -.
DR ProteomicsDB; 67968; -.
DR Antibodypedia; 11924; 183 antibodies from 32 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 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; YSWSLRY; -.
DR OrthoDB; 140316at2759; -.
DR PhylomeDB; Q6ZN28; -.
DR TreeFam; TF105572; -.
DR PathwayCommons; Q6ZN28; -.
DR SignaLink; Q6ZN28; -.
DR SIGNOR; Q6ZN28; -.
DR BioGRID-ORCS; 346389; 12 hits in 1082 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 96 other tissues.
DR Genevisible; Q6ZN28; HS.
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 InterPro; IPR001452; SH3_domain.
DR InterPro; IPR000906; ZU5_dom.
DR Pfam; PF00791; ZU5; 1.
DR PROSITE; PS50002; SH3; 1.
DR PROSITE; PS51145; ZU5; 1.
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
