MAD3_HUMAN
ID MAD3_HUMAN Reviewed; 206 AA.
AC Q9BW11; B4E0J1; Q53HK1; Q7Z4Y0; Q8NDJ7; Q96ME3;
DT 17-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 157.
DE RecName: Full=Max dimerization protein 3;
DE Short=Max dimerizer 3;
DE AltName: Full=Class C basic helix-loop-helix protein 13;
DE Short=bHLHc13;
DE AltName: Full=Max-associated protein 3;
DE AltName: Full=Max-interacting transcriptional repressor MAD3;
DE AltName: Full=Myx;
GN Name=MXD3; Synonyms=BHLHC13, MAD3;
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).
RA Zhang P.Z., Yu L., Ding J.B., Dai F.Y., Fu S.N., Zhao S.Y.;
RT "Cloning and sequencing of a new human cDNA homologous to Rattus norvegicus
RT Myx mRNA.";
RL Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4).
RC TISSUE=Thymus;
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 MRNA] (ISOFORM 1).
RC TISSUE=Coronary artery;
RA Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y.,
RA Tanaka A., Yokoyama S.;
RL Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15372022; DOI=10.1038/nature02919;
RA Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S.,
RA Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M.,
RA She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.,
RA Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M.,
RA Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M.,
RA Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A.,
RA Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R.,
RA Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L.,
RA Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N.,
RA Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J.,
RA Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A.,
RA Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.;
RT "The DNA sequence and comparative analysis of human chromosome 5.";
RL Nature 431:268-274(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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).
CC -!- FUNCTION: Transcriptional repressor. Binds with MAX to form a sequence-
CC specific DNA-binding protein complex which recognizes the core sequence
CC 5'-CAC[GA]TG-3'. Antagonizes MYC transcriptional activity by competing
CC for MAX and suppresses MYC dependent cell transformation (By
CC similarity). {ECO:0000250}.
CC -!- SUBUNIT: Efficient DNA binding requires dimerization with another bHLH
CC protein. Binds DNA as a heterodimer with MAX. Interacts with SIN3A AND
CC SIN3B. Interacts with RNF17 (By similarity). {ECO:0000250}.
CC -!- INTERACTION:
CC Q9BW11; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-741574, EBI-3867333;
CC Q9BW11; Q15323: KRT31; NbExp=3; IntAct=EBI-741574, EBI-948001;
CC Q9BW11; Q07627: KRTAP1-1; NbExp=3; IntAct=EBI-741574, EBI-11959885;
CC Q9BW11; Q8IUG1: KRTAP1-3; NbExp=3; IntAct=EBI-741574, EBI-11749135;
CC Q9BW11; P60409: KRTAP10-7; NbExp=3; IntAct=EBI-741574, EBI-10172290;
CC Q9BW11; Q9BYR6: KRTAP3-3; NbExp=3; IntAct=EBI-741574, EBI-3957694;
CC Q9BW11; Q7Z3S9: NOTCH2NLA; NbExp=4; IntAct=EBI-741574, EBI-945833;
CC Q9BW11; P0DPK4: NOTCH2NLC; NbExp=3; IntAct=EBI-741574, EBI-22310682;
CC Q9BW11; P37198: NUP62; NbExp=3; IntAct=EBI-741574, EBI-347978;
CC Q9BW11; Q9UBB9: TFIP11; NbExp=3; IntAct=EBI-741574, EBI-1105213;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q9BW11-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BW11-2; Sequence=VSP_021109;
CC Name=3;
CC IsoId=Q9BW11-3; Sequence=VSP_021110;
CC Name=4;
CC IsoId=Q9BW11-4; Sequence=VSP_057220;
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DR EMBL; AF114834; AAP97233.1; -; mRNA.
DR EMBL; AK057034; BAB71352.1; -; mRNA.
DR EMBL; AK303397; BAG64453.1; -; mRNA.
DR EMBL; AK316468; BAH14839.1; -; mRNA.
DR EMBL; AK222579; BAD96299.1; -; mRNA.
DR EMBL; AL833959; CAD38809.2; -; mRNA.
DR EMBL; AC146507; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC000745; AAH00745.1; -; mRNA.
DR CCDS; CCDS4416.1; -. [Q9BW11-1]
DR CCDS; CCDS47347.1; -. [Q9BW11-3]
DR RefSeq; NP_001136407.1; NM_001142935.1. [Q9BW11-3]
DR RefSeq; NP_112590.1; NM_031300.3. [Q9BW11-1]
DR AlphaFoldDB; Q9BW11; -.
DR SMR; Q9BW11; -.
DR BioGRID; 123658; 38.
DR IntAct; Q9BW11; 32.
DR STRING; 9606.ENSP00000401867; -.
DR iPTMnet; Q9BW11; -.
DR PhosphoSitePlus; Q9BW11; -.
DR BioMuta; MXD3; -.
DR DMDM; 74733390; -.
DR EPD; Q9BW11; -.
DR jPOST; Q9BW11; -.
DR MassIVE; Q9BW11; -.
DR MaxQB; Q9BW11; -.
DR PaxDb; Q9BW11; -.
DR PeptideAtlas; Q9BW11; -.
DR PRIDE; Q9BW11; -.
DR ProteomicsDB; 5676; -.
DR ProteomicsDB; 79247; -. [Q9BW11-1]
DR ProteomicsDB; 79248; -. [Q9BW11-2]
DR ProteomicsDB; 79249; -. [Q9BW11-3]
DR ABCD; Q9BW11; 2 sequenced antibodies.
DR Antibodypedia; 17372; 233 antibodies from 29 providers.
DR DNASU; 83463; -.
DR Ensembl; ENST00000423571.6; ENSP00000389716.2; ENSG00000213347.11. [Q9BW11-4]
DR Ensembl; ENST00000427908.6; ENSP00000416921.2; ENSG00000213347.11. [Q9BW11-3]
DR Ensembl; ENST00000439742.7; ENSP00000401867.2; ENSG00000213347.11. [Q9BW11-1]
DR Ensembl; ENST00000513063.5; ENSP00000421463.1; ENSG00000213347.11. [Q9BW11-1]
DR GeneID; 83463; -.
DR KEGG; hsa:83463; -.
DR MANE-Select; ENST00000439742.7; ENSP00000401867.2; NM_031300.4; NP_112590.1.
DR UCSC; uc003mga.4; human. [Q9BW11-1]
DR CTD; 83463; -.
DR DisGeNET; 83463; -.
DR GeneCards; MXD3; -.
DR HGNC; HGNC:14008; MXD3.
DR HPA; ENSG00000213347; Tissue enhanced (bone).
DR MIM; 609450; gene.
DR neXtProt; NX_Q9BW11; -.
DR OpenTargets; ENSG00000213347; -.
DR PharmGKB; PA134892226; -.
DR VEuPathDB; HostDB:ENSG00000213347; -.
DR eggNOG; KOG2483; Eukaryota.
DR GeneTree; ENSGT00940000161050; -.
DR HOGENOM; CLU_882682_0_0_1; -.
DR InParanoid; Q9BW11; -.
DR OMA; IVFDCVD; -.
DR PhylomeDB; Q9BW11; -.
DR TreeFam; TF315654; -.
DR PathwayCommons; Q9BW11; -.
DR SignaLink; Q9BW11; -.
DR SIGNOR; Q9BW11; -.
DR BioGRID-ORCS; 83463; 10 hits in 1096 CRISPR screens.
DR ChiTaRS; MXD3; human.
DR GenomeRNAi; 83463; -.
DR Pharos; Q9BW11; Tbio.
DR PRO; PR:Q9BW11; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9BW11; protein.
DR Bgee; ENSG00000213347; Expressed in ventricular zone and 133 other tissues.
DR ExpressionAtlas; Q9BW11; baseline and differential.
DR Genevisible; Q9BW11; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0090575; C:RNA polymerase II transcription regulator complex; IEA:Ensembl.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IEA:Ensembl.
DR GO; GO:0046983; F:protein dimerization activity; IEA:InterPro.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR Gene3D; 4.10.280.10; -; 1.
DR InterPro; IPR011598; bHLH_dom.
DR InterPro; IPR036638; HLH_DNA-bd_sf.
DR Pfam; PF00010; HLH; 1.
DR SMART; SM00353; HLH; 1.
DR SUPFAM; SSF47459; SSF47459; 1.
DR PROSITE; PS50888; BHLH; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; DNA-binding; Nucleus; Reference proteome; Repressor;
KW Transcription; Transcription regulation.
FT CHAIN 1..206
FT /note="Max dimerization protein 3"
FT /id="PRO_0000253707"
FT DOMAIN 57..109
FT /note="bHLH"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00981"
FT REGION 8..25
FT /note="Interaction with SIN3A and SIN3B"
FT /evidence="ECO:0000250"
FT REGION 25..67
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 146..171
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 60..68
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_021109"
FT VAR_SEQ 169..206
FT /note="EELEVDVESLVFGGEAELLRGFVAGQEHSYSHGGGAWL -> VLPNENGGTP
FT NHRPTGRGNNISSHH (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_021110"
FT VAR_SEQ 169..206
FT /note="EELEVDVESLVFGGEAELLRGFVAGQEHSYSHGGGAWL -> GECPEAEGLC
FT GPRGEPGLLTGPLPAQRSWRWMWRAWCLGVRPSCCGASSPARSTATRTAAAPGYDVPHP
FT GRASALYSCQAHLPGRSPPQAFRAARSHLLEWTKRTLVWEQVLPKHPAAGCQAGPLEGK
FT GQDSSGPPWTPAGQAAWARAQAFGSAAPKGTGSLLGLFPSWTRPPAFASHKLYSIFIKS
FT LFHNFPSIVLPNENGGTPNHRPTGRGNNISSHH (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_057220"
FT VARIANT 114
FT /note="Q -> H (in dbSNP:rs35691394)"
FT /id="VAR_049546"
FT CONFLICT 88
FT /note="A -> G (in Ref. 1; AAP97233)"
FT /evidence="ECO:0000305"
FT CONFLICT 129
FT /note="S -> G (in Ref. 3; BAD96299)"
FT /evidence="ECO:0000305"
FT CONFLICT 134..135
FT /note="LE -> WM (in Ref. 1; AAP97233)"
FT /evidence="ECO:0000305"
FT CONFLICT 155
FT /note="D -> N (in Ref. 1; AAP97233)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 206 AA; 23477 MW; 2C49E02C10F9FC2E CRC64;
MEPLASNIQV LLQAAEFLER REREAEHGYA SLCPHRSPGP IHRRKKRPPQ APGAQDSGRS
VHNELEKRRR AQLKRCLERL KQQMPLGADC ARYTTLSLLR RARMHIQKLE DQEQRARQLK
ERLRSKQQSL QRQLEQLRGL AGAAERERLR ADSLDSSGLS SERSDSDQEE LEVDVESLVF
GGEAELLRGF VAGQEHSYSH GGGAWL
