MAMD1_MOUSE
ID MAMD1_MOUSE Reviewed; 803 AA.
AC P0C6A2; B1AW19;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-FEB-2008, sequence version 1.
DT 03-AUG-2022, entry version 90.
DE RecName: Full=Mastermind-like domain-containing protein 1;
GN Name=Mamld1;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [2]
RP FUNCTION.
RX PubMed=18162467; DOI=10.1074/jbc.m703289200;
RA Fukami M., Wada Y., Okada M., Kato F., Katsumata N., Baba T., Morohashi K.,
RA Laporte J., Kitagawa M., Ogata T.;
RT "Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the
RT Hes3 promoter, augments testosterone production, and contains the SF1
RT target sequence.";
RL J. Biol. Chem. 283:5525-5532(2008).
CC -!- FUNCTION: Transactivates the HES3 promoter independently of NOTCH
CC proteins. HES3 is a non-canonical NOTCH target gene which lacks binding
CC sites for RBPJ (By similarity). Required for testosterone production.
CC {ECO:0000250, ECO:0000269|PubMed:18162467}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Note=Punctate nuclear
CC localization. {ECO:0000250}.
CC -!- SIMILARITY: Belongs to the mastermind family. {ECO:0000305}.
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DR EMBL; AL731843; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS57759.1; -.
DR RefSeq; NP_001074823.2; NM_001081354.2.
DR RefSeq; XP_011245924.1; XM_011247622.2.
DR AlphaFoldDB; P0C6A2; -.
DR STRING; 10090.ENSMUSP00000080737; -.
DR iPTMnet; P0C6A2; -.
DR PhosphoSitePlus; P0C6A2; -.
DR PaxDb; P0C6A2; -.
DR PRIDE; P0C6A2; -.
DR ProteomicsDB; 292084; -.
DR Antibodypedia; 16946; 65 antibodies from 18 providers.
DR Ensembl; ENSMUST00000082088; ENSMUSP00000080737; ENSMUSG00000059401.
DR GeneID; 333639; -.
DR KEGG; mmu:333639; -.
DR UCSC; uc009tjk.1; mouse.
DR CTD; 10046; -.
DR MGI; MGI:3045303; Mamld1.
DR VEuPathDB; HostDB:ENSMUSG00000059401; -.
DR eggNOG; ENOG502QV1F; Eukaryota.
DR GeneTree; ENSGT00730000111366; -.
DR InParanoid; P0C6A2; -.
DR OMA; YCPEKLS; -.
DR OrthoDB; 399810at2759; -.
DR TreeFam; TF332922; -.
DR Reactome; R-MMU-2122947; NOTCH1 Intracellular Domain Regulates Transcription.
DR Reactome; R-MMU-350054; Notch-HLH transcription pathway.
DR Reactome; R-MMU-8941856; RUNX3 regulates NOTCH signaling.
DR BioGRID-ORCS; 333639; 1 hit in 71 CRISPR screens.
DR PRO; PR:P0C6A2; -.
DR Proteomes; UP000000589; Chromosome X.
DR RNAct; P0C6A2; protein.
DR Bgee; ENSMUSG00000059401; Expressed in diaphragm and 62 other tissues.
DR ExpressionAtlas; P0C6A2; baseline and differential.
DR GO; GO:0005813; C:centrosome; ISO:MGI.
DR GO; GO:0005794; C:Golgi apparatus; ISO:MGI.
DR GO; GO:0016604; C:nuclear body; ISO:MGI.
DR GO; GO:0005654; C:nucleoplasm; ISO:MGI.
DR GO; GO:0008584; P:male gonad development; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IMP:MGI.
DR InterPro; IPR026131; MAMLD1.
DR PANTHER; PTHR15275; PTHR15275; 4.
PE 3: Inferred from homology;
KW Activator; Nucleus; Reference proteome; Transcription;
KW Transcription regulation.
FT CHAIN 1..803
FT /note="Mastermind-like domain-containing protein 1"
FT /id="PRO_0000317430"
FT REGION 22..50
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 292..374
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 420..452
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 486..641
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 29..44
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 294..312
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 313..342
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 343..374
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 486..568
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 575..592
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 593..621
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 622..641
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 803 AA; 87598 MW; 7AD9FE05DBE365D3 CRC64;
MDDWKSRLVI ENMLPHFNMV GNRQETRKLQ ESGTSKRRQE GENFHFTGMA DGSYPNKIKR
PCLEDVTLSM GPGAHPTSLS TEMQMPTLNM NPTSADLGVA GQSLLLENNP LDSNVVNSSA
MGSPFGVPST ADTGLKGHAV PYYEKNNSMP AVDQELQDLL EELTKIQEPS SNDLDLEKIL
GSKPEEPLVL HNPQAPLGPP AKLPVQMPHM ESLGSSKEFA SSCSQVAGTS LPIMPSSTGM
SYSIPSSSKQ IVSSSSSTAQ AQVKNQVQNM LPVTMPPLSV PQWHHAHQLK ALAASKQGSA
TKQGSNRNWS SLPPPGLSPP YLPVPSPHPP PPQPPPPPFS PQNFTASCMS SSSLSGSAVQ
SSPNALLSSM APSSNASLGP TLPYVPAKLP GLPLNQQPQF SPQSSILANL VSSSVKSPQG
HLISALPTST PGPSPPYRPE NLSSPGLPQQ SFTPQYSLIR SLTPTSNLLS QQQQQQQQQQ
QQQQQQQQQQ QQQQHQANSI FKPMTSSQQP KTLSMIMQQG LSSSSPEAPE PFTFSNTKPL
SHFVSEPSPQ KMASMSTHSR QSSLLHYLPQ ATPAHAPSAT ASSTATATLQ LQHHHQQHHH
QQHHHQQQHH QQQHHQQHHH QQQQHQQQQH QQQQQQQPDQ SSFLLQQIMQ QPQRFQRMMA
SDSMPALPGQ GCCHRCAWTS TALWLEHQHQ QWNSLTSTHG HVPPSNLTHV DKACKLGEAR
PPHVSLGRQP PSRQALGSES FLPGSSFAHE LARVTSTSSY NTSEAAPWGG WDPKAWRQVP
APLLPSCDAA AREAEIRSYG NDP
