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Metastasis-associated in colon cancer protein 1 (SH3 domain-containing protein 7a5)

 MACC1_HUMAN             Reviewed;         852 AA.
Q6ZN28; A8MUS5; B2RNR9; Q6ZQN8; Q7Z5A5;
08-APR-2008, integrated into UniProtKB/Swiss-Prot.
08-APR-2008, sequence version 2.
07-NOV-2018, entry version 110.
RecName: Full=Metastasis-associated in colon cancer protein 1;
AltName: Full=SH3 domain-containing protein 7a5;
Name=MACC1;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, AND TISSUE
SPECIFICITY.
TISSUE=Colon carcinoma, and Trachea;
PubMed=19098908; DOI=10.1038/nm.1889;
Stein U., Walther W., Arlt F., Schwabe H., Smith J., Fichtner I.,
Birchmeier W., Schlag P.M.;
"MACC1, a newly identified key regulator of HGF-MET signaling,
predicts colon cancer metastasis.";
Nat. Med. 15:59-67(2009).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS VAL-31; LEU-515
AND THR-804.
TISSUE=Tongue;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=12690205; DOI=10.1126/science.1083423;
Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
Kanematsu E., Gentles S., Christopoulos C.C., Choufani S.,
Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z.,
Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C.,
Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J.,
Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F.,
Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F.,
Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H.,
Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G.,
Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P.,
Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J.,
Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F.,
Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B.,
Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W.,
Mural R.J., Adams M.D., Tsui L.-C.;
"Human chromosome 7: DNA sequence and biology.";
Science 300:767-772(2003).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=12853948; DOI=10.1038/nature01782;
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H.,
Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R.,
Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E.,
Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H.,
Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A.,
Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J.,
Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A.,
Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S.,
Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M.,
Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C.,
Latreille P., Miller N., Johnson D., Murray J., Woessner J.P.,
Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J.,
Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L.,
Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R.,
Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E.,
Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K.,
Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S.,
Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M.,
Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R.,
Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D.,
Waterston R.H., Wilson R.K.;
"The DNA sequence of human chromosome 7.";
Nature 424:157-164(2003).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Lung;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[7]
INTERACTION WITH FASLG.
PubMed=19807924; DOI=10.1186/1471-2172-10-53;
Voss M., Lettau M., Janssen O.;
"Identification of SH3 domain interaction partners of human FasL
(CD178) by phage display screening.";
BMC Immunol. 10:53-53(2009).
[8]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-19, AND IDENTIFICATION
BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Erythroleukemia;
PubMed=23186163; DOI=10.1021/pr300630k;
Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
Mohammed S.;
"Toward a comprehensive characterization of a human cancer cell
phosphoproteome.";
J. Proteome Res. 12:260-271(2013).
-!- FUNCTION: Acts as a transcription activator for MET and as a key
regulator of HGF-MET signaling. Promotes cell motility,
proliferation and hepatocyte growth factor (HGF)-dependent
scattering in vitro and tumor growth and metastasis in vivo.
{ECO:0000269|PubMed:19098908}.
-!- SUBUNIT: Interacts with FASLG. {ECO:0000269|PubMed:19807924}.
-!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19098908}.
Nucleus {ECO:0000269|PubMed:19098908}. Note=Mainly found in the
cytoplasm in non-metastasizing tumors.
-!- TISSUE SPECIFICITY: Preferentially expressed in metastasizing
tumors. {ECO:0000269|PubMed:19098908}.
-!- SEQUENCE CAUTION:
Sequence=BAC87646.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Sequence=EAW93719.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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EMBL; AJ313524; CAC86408.1; -; mRNA.
EMBL; AK128850; BAC87646.1; ALT_INIT; mRNA.
EMBL; AK131400; BAD18547.1; -; mRNA.
EMBL; CH236948; EAL24276.1; -; Genomic_DNA.
EMBL; AC007001; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471073; EAW93719.1; ALT_SEQ; Genomic_DNA.
EMBL; BC137090; AAI37091.1; -; mRNA.
CCDS; CCDS5369.1; -.
RefSeq; NP_877439.3; NM_182762.3.
UniGene; Hs.598388; -.
ProteinModelPortal; Q6ZN28; -.
BioGrid; 131381; 8.
IntAct; Q6ZN28; 2.
STRING; 9606.ENSP00000328410; -.
iPTMnet; Q6ZN28; -.
PhosphoSitePlus; Q6ZN28; -.
BioMuta; MACC1; -.
DMDM; 182627616; -.
EPD; Q6ZN28; -.
MaxQB; Q6ZN28; -.
PaxDb; Q6ZN28; -.
PeptideAtlas; Q6ZN28; -.
PRIDE; Q6ZN28; -.
ProteomicsDB; 67968; -.
Ensembl; ENST00000332878; ENSP00000328410; ENSG00000183742.
Ensembl; ENST00000400331; ENSP00000383185; ENSG00000183742.
Ensembl; ENST00000589011; ENSP00000466864; ENSG00000183742.
GeneID; 346389; -.
KEGG; hsa:346389; -.
UCSC; uc003sus.5; human.
CTD; 346389; -.
DisGeNET; 346389; -.
EuPathDB; HostDB:ENSG00000183742.12; -.
GeneCards; MACC1; -.
H-InvDB; HIX0025430; -.
HGNC; HGNC:30215; MACC1.
HPA; CAB068194; -.
HPA; HPA020081; -.
HPA; HPA020103; -.
HPA; HPA029476; -.
MIM; 612646; gene.
neXtProt; NX_Q6ZN28; -.
OpenTargets; ENSG00000183742; -.
PharmGKB; PA164722150; -.
eggNOG; ENOG410IHUQ; Eukaryota.
eggNOG; ENOG410YRKQ; LUCA.
GeneTree; ENSGT00390000013151; -.
HOGENOM; HOG000015297; -.
InParanoid; Q6ZN28; -.
OMA; VCGHSYM; -.
OrthoDB; EOG091G012M; -.
PhylomeDB; Q6ZN28; -.
TreeFam; TF105572; -.
GenomeRNAi; 346389; -.
PRO; PR:Q6ZN28; -.
Proteomes; UP000005640; Chromosome 7.
Bgee; ENSG00000183742; Expressed in 99 organ(s), highest expression level in intestine.
Genevisible; Q6ZN28; HS.
GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
GO; GO:0005739; C:mitochondrion; IDA:HPA.
GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IDA:NTNU_SB.
GO; GO:0008083; F:growth factor activity; IEA:UniProtKB-KW.
GO; GO:0000977; F:RNA polymerase II regulatory region sequence-specific DNA binding; IDA:NTNU_SB.
GO; GO:0051781; P:positive regulation of cell division; IEA:UniProtKB-KW.
GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:NTNU_SB.
InterPro; IPR001452; SH3_domain.
InterPro; IPR000906; ZU5_dom.
Pfam; PF00791; ZU5; 1.
PROSITE; PS50002; SH3; 1.
PROSITE; PS51145; ZU5; 1.
1: Evidence at protein level;
Activator; Complete proteome; Cytoplasm; Growth factor; Mitogen;
Nucleus; Phosphoprotein; Polymorphism; Reference proteome; SH3 domain;
Transcription; Transcription regulation.
CHAIN 1 852 Metastasis-associated in colon cancer
protein 1.
/FTId=PRO_0000329032.
DOMAIN 212 349 ZU5. {ECO:0000255|PROSITE-
ProRule:PRU00485}.
DOMAIN 549 619 SH3. {ECO:0000255|PROSITE-
ProRule:PRU00192}.
MOD_RES 19 19 Phosphoserine.
{ECO:0000244|PubMed:23186163}.
VARIANT 31 31 L -> V (in dbSNP:rs4721888).
{ECO:0000269|PubMed:14702039}.
/FTId=VAR_042620.
VARIANT 50 50 P -> L (in dbSNP:rs17142503).
/FTId=VAR_042621.
VARIANT 515 515 S -> L (in dbSNP:rs975263).
{ECO:0000269|PubMed:14702039}.
/FTId=VAR_042622.
VARIANT 728 728 E -> A (in dbSNP:rs12671170).
/FTId=VAR_042623.
VARIANT 804 804 R -> T (in dbSNP:rs3735615).
{ECO:0000269|PubMed:14702039}.
/FTId=VAR_042624.
CONFLICT 171 171 L -> P (in Ref. 2; BAD18547).
{ECO:0000305}.
CONFLICT 264 264 D -> N (in Ref. 2; BAD18547).
{ECO:0000305}.
CONFLICT 383 383 S -> N (in Ref. 2; BAD18547).
{ECO:0000305}.
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


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