MAGB1_HUMAN
ID MAGB1_HUMAN Reviewed; 347 AA.
AC P43366; B2RC79; O00601; O75862; Q6FHJ0; Q96CW8;
DT 01-NOV-1995, integrated into UniProtKB/Swiss-Prot.
DT 26-SEP-2001, sequence version 2.
DT 03-AUG-2022, entry version 154.
DE RecName: Full=Melanoma-associated antigen B1;
DE AltName: Full=Cancer/testis antigen 3.1;
DE Short=CT3.1;
DE AltName: Full=DSS-AHC critical interval MAGE superfamily 10;
DE Short=DAM10;
DE AltName: Full=MAGE-B1 antigen;
DE AltName: Full=MAGE-XP antigen;
GN Name=MAGEB1; Synonyms=MAGEL1, MAGEXP;
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].
RC TISSUE=Testis;
RX PubMed=7761436; DOI=10.1073/pnas.92.11.4987;
RA Muscatelli F., Walker A.P., De Plaen E., Stafford A.N., Monaco A.P.;
RT "Isolation and characterization of a MAGE gene family in the Xp21.3
RT region.";
RL Proc. Natl. Acad. Sci. U.S.A. 92:4987-4991(1995).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RC TISSUE=Testis;
RX PubMed=8535061; DOI=10.1007/bf00352360;
RA Dabovic B., Zanaria E., Bardoni B., Lisa A., Bordignon C., Russo V.,
RA Matessi C., Traversari C., Camerino G.;
RT "A family of rapidly evolving genes from the sex reversal critical region
RT in Xp21.";
RL Mamm. Genome 6:571-580(1995).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S., Neubert P.,
RA Kstrang K., Schatten R., Shen B., Henze S., Mar W., Korn B., Zuo D., Hu Y.,
RA LaBaer J.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [6]
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 [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Skin;
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 [8]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- TISSUE SPECIFICITY: Expressed only in testis.
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DR EMBL; X82539; CAA57889.1; -; mRNA.
DR EMBL; S80936; AAC97145.1; -; Genomic_DNA.
DR EMBL; CR541762; CAG46562.1; -; mRNA.
DR EMBL; AK314977; BAG37476.1; -; mRNA.
DR EMBL; AC005185; AAD10634.1; -; Genomic_DNA.
DR EMBL; CH471074; EAW99049.1; -; Genomic_DNA.
DR EMBL; BC013772; AAH13772.1; -; mRNA.
DR CCDS; CCDS14222.1; -.
DR RefSeq; NP_002354.2; NM_002363.4.
DR RefSeq; NP_796379.1; NM_177404.2.
DR RefSeq; NP_803134.1; NM_177415.2.
DR PDB; 6R7T; X-ray; 2.68 A; B=99-347.
DR PDBsum; 6R7T; -.
DR AlphaFoldDB; P43366; -.
DR SMR; P43366; -.
DR BioGRID; 110286; 8.
DR IntAct; P43366; 2.
DR STRING; 9606.ENSP00000368264; -.
DR iPTMnet; P43366; -.
DR PhosphoSitePlus; P43366; -.
DR BioMuta; MAGEB1; -.
DR DMDM; 17380136; -.
DR EPD; P43366; -.
DR MassIVE; P43366; -.
DR MaxQB; P43366; -.
DR PaxDb; P43366; -.
DR PeptideAtlas; P43366; -.
DR PRIDE; P43366; -.
DR ProteomicsDB; 55629; -.
DR ABCD; P43366; 1 sequenced antibody.
DR Antibodypedia; 380; 311 antibodies from 27 providers.
DR DNASU; 4112; -.
DR Ensembl; ENST00000378981.8; ENSP00000368264.3; ENSG00000214107.9.
DR Ensembl; ENST00000397548.4; ENSP00000380681.2; ENSG00000214107.9.
DR Ensembl; ENST00000397550.6; ENSP00000380683.1; ENSG00000214107.9.
DR GeneID; 4112; -.
DR KEGG; hsa:4112; -.
DR MANE-Select; ENST00000397548.4; ENSP00000380681.2; NM_177404.3; NP_796379.1.
DR UCSC; uc004dcc.4; human.
DR CTD; 4112; -.
DR DisGeNET; 4112; -.
DR GeneCards; MAGEB1; -.
DR HGNC; HGNC:6808; MAGEB1.
DR HPA; ENSG00000214107; Tissue enriched (testis).
DR MIM; 300097; gene.
DR neXtProt; NX_P43366; -.
DR OpenTargets; ENSG00000214107; -.
DR PharmGKB; PA30554; -.
DR VEuPathDB; HostDB:ENSG00000214107; -.
DR eggNOG; KOG4562; Eukaryota.
DR GeneTree; ENSGT00940000166106; -.
DR HOGENOM; CLU_039582_1_0_1; -.
DR InParanoid; P43366; -.
DR OMA; WRNDEER; -.
DR OrthoDB; 1195799at2759; -.
DR PhylomeDB; P43366; -.
DR TreeFam; TF328505; -.
DR PathwayCommons; P43366; -.
DR SignaLink; P43366; -.
DR BioGRID-ORCS; 4112; 12 hits in 700 CRISPR screens.
DR GenomeRNAi; 4112; -.
DR Pharos; P43366; Tbio.
DR PRO; PR:P43366; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; P43366; protein.
DR Bgee; ENSG00000214107; Expressed in right testis and 17 other tissues.
DR Genevisible; P43366; HS.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR Gene3D; 1.10.10.1200; -; 1.
DR Gene3D; 1.10.10.1210; -; 1.
DR InterPro; IPR037445; MAGE.
DR InterPro; IPR021072; MAGE_N.
DR InterPro; IPR041898; MAGE_WH1.
DR InterPro; IPR041899; MAGE_WH2.
DR InterPro; IPR002190; MHD_dom.
DR PANTHER; PTHR11736; PTHR11736; 1.
DR Pfam; PF01454; MAGE; 1.
DR Pfam; PF12440; MAGE_N; 1.
DR SMART; SM01373; MAGE; 1.
DR SMART; SM01392; MAGE_N; 1.
DR PROSITE; PS50838; MAGE; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Reference proteome; Tumor antigen.
FT CHAIN 1..347
FT /note="Melanoma-associated antigen B1"
FT /id="PRO_0000156712"
FT DOMAIN 108..307
FT /note="MAGE"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00127"
FT REGION 1..104
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 315..347
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 43..75
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 88..104
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 322..347
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 267
FT /note="R -> C (in dbSNP:rs7062640)"
FT /id="VAR_053499"
FT CONFLICT 5
FT /note="Q -> E (in Ref. 3; CAG46562)"
FT /evidence="ECO:0000305"
FT CONFLICT 23..24
FT /note="QG -> HY (in Ref. 7; AAH13772)"
FT /evidence="ECO:0000305"
FT CONFLICT 28
FT /note="A -> R (in Ref. 1; CAA57889)"
FT /evidence="ECO:0000305"
FT CONFLICT 144..145
FT /note="DH -> EY (in Ref. 7; AAH13772)"
FT /evidence="ECO:0000305"
FT CONFLICT 172
FT /note="G -> S (in Ref. 1; CAA57889)"
FT /evidence="ECO:0000305"
FT CONFLICT 327
FT /note="T -> I (in Ref. 2; AAC97145)"
FT /evidence="ECO:0000305"
FT HELIX 107..124
FT /evidence="ECO:0007829|PDB:6R7T"
FT HELIX 131..136
FT /evidence="ECO:0007829|PDB:6R7T"
FT HELIX 147..160
FT /evidence="ECO:0007829|PDB:6R7T"
FT HELIX 196..200
FT /evidence="ECO:0007829|PDB:6R7T"
FT HELIX 201..210
FT /evidence="ECO:0007829|PDB:6R7T"
FT TURN 211..213
FT /evidence="ECO:0007829|PDB:6R7T"
FT HELIX 217..226
FT /evidence="ECO:0007829|PDB:6R7T"
FT TURN 236..238
FT /evidence="ECO:0007829|PDB:6R7T"
FT HELIX 241..246
FT /evidence="ECO:0007829|PDB:6R7T"
FT HELIX 248..251
FT /evidence="ECO:0007829|PDB:6R7T"
FT STRAND 254..258
FT /evidence="ECO:0007829|PDB:6R7T"
FT STRAND 269..272
FT /evidence="ECO:0007829|PDB:6R7T"
FT HELIX 274..279
FT /evidence="ECO:0007829|PDB:6R7T"
FT HELIX 282..291
FT /evidence="ECO:0007829|PDB:6R7T"
FT STRAND 292..295
FT /evidence="ECO:0007829|PDB:6R7T"
FT HELIX 297..299
FT /evidence="ECO:0007829|PDB:6R7T"
FT HELIX 301..315
FT /evidence="ECO:0007829|PDB:6R7T"
SQ SEQUENCE 347 AA; 39037 MW; 538A65E02DC34155 CRC64;
MPRGQKSKLR AREKRRKARE ETQGLKVAHA TAAEKEECPS SSPVLGDTPT SSPAAGIPQK
PQGAPPTTTA AAAVSCTESD EGAKCQGEEN ASFSQATTST ESSVKDPVAW EAGMLMHFIL
RKYKMREPIM KADMLKVVDE KYKDHFTEIL NGASRRLELV FGLDLKEDNP SGHTYTLVSK
LNLTNDGNLS NDWDFPRNGL LMPLLGVIFL KGNSATEEEI WKFMNVLGAY DGEEHLIYGE
PRKFITQDLV QEKYLKYEQV PNSDPPRYQF LWGPRAYAET TKMKVLEFLA KMNGATPRDF
PSHYEEALRD EEERAQVRSS VRARRRTTAT TFRARSRAPF SRSSHPM
