MAR1_HUMAN
ID MAR1_HUMAN Reviewed; 118 AA.
AC Q16655; Q6ICU4;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1996, sequence version 1.
DT 03-AUG-2022, entry version 158.
DE RecName: Full=Melanoma antigen recognized by T-cells 1;
DE Short=MART-1;
DE AltName: Full=Antigen LB39-AA;
DE AltName: Full=Antigen SK29-AA;
DE AltName: Full=Protein Melan-A;
GN Name=MLANA; Synonyms=MART1;
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=Melanoma;
RX PubMed=8170938; DOI=10.1073/pnas.91.9.3515;
RA Kawakami Y., Eliyahu S., Delgado C.H., Robbins P.F., Rivoltini L.,
RA Topalian S.L., Miki T., Rosenberg S.A.;
RT "Cloning of the gene coding for a shared human melanoma antigen recognized
RT by autologous T cells infiltrating into tumor.";
RL Proc. Natl. Acad. Sci. U.S.A. 91:3515-3519(1994).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=8006593; DOI=10.1084/jem.180.1.35;
RA Coulie P.G., Brichard V., van Pel A., Woelfel T., Schneider J.,
RA Traversari C., Mattei S., de Plaen E., Lurquin C., Szikora J.-P.,
RA Renauld J.-C., Boon T.;
RT "A new gene coding for a differentiation antigen recognized by autologous
RT cytolytic T lymphocytes on HLA-A2 melanomas.";
RL J. Exp. Med. 180:35-42(1994).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Amygdala;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton 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 (SEP-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 SUBCELLULAR LOCATION.
RX PubMed=11551907; DOI=10.1074/jbc.m103221200;
RA Rimoldi D., Muehlethaler K., Salvi S., Valmori D., Romero P.,
RA Cerottini J.C., Levy F.;
RT "Subcellular localization of the melanoma-associated protein Melan-AMART-1
RT influences the processing of its HLA-A2-restricted epitope.";
RL J. Biol. Chem. 276:43189-43196(2001).
RN [9]
RP SUBCELLULAR LOCATION.
RX PubMed=12191019; DOI=10.1034/j.1600-0854.2002.30909.x;
RA De Maziere A.M., Muehlethaler K., van Donselaar E., Salvi S., Davoust J.,
RA Cerottini J.-C., Levy F., Slot J.W., Rimoldi D.;
RT "The melanocytic protein Melan-A/MART-1 has a subcellular localization
RT distinct from typical melanosomal proteins.";
RL Traffic 3:678-693(2002).
RN [10]
RP FUNCTION, SUBCELLULAR LOCATION, AND INTERACTION WITH SILV.
RX PubMed=15695812; DOI=10.1074/jbc.m413692200;
RA Hoashi T., Watabe H., Muller J., Yamaguchi Y., Vieira W.D., Hearing V.J.;
RT "MART-1 is required for the function of the melanosomal matrix protein
RT PMEL17/GP100 and the maturation of melanosomes.";
RL J. Biol. Chem. 280:14006-14016(2005).
RN [11]
RP FUNCTION, AND INTERACTION WITH GPR143.
RX PubMed=19717472; DOI=10.1093/hmg/ddp415;
RA Giordano F., Bonetti C., Surace E.M., Marigo V., Raposo G.;
RT "The ocular albinism type 1 (OA1) G-protein-coupled receptor functions with
RT MART-1 at early stages of melanogenesis to control melanosome identity and
RT composition.";
RL Hum. Mol. Genet. 18:4530-4545(2009).
RN [12]
RP X-RAY CRYSTALLOGRAPHY (2.1 ANGSTROMS) OF 100-114 IN COMPLEX WITH HLA-DR1,
RP AND PHOSPHORYLATION AT SER-108.
RX PubMed=20417641; DOI=10.1016/j.jmb.2010.04.037;
RA Li Y., Depontieu F.R., Sidney J., Salay T.M., Engelhard V.H., Hunt D.F.,
RA Sette A., Topalian S.L., Mariuzza R.A.;
RT "Structural basis for the presentation of tumor-associated MHC class II-
RT restricted phosphopeptides to CD4+ T cells.";
RL J. Mol. Biol. 399:596-603(2010).
CC -!- FUNCTION: Involved in melanosome biogenesis by ensuring the stability
CC of GPR143. Plays a vital role in the expression, stability,
CC trafficking, and processing of melanocyte protein PMEL, which is
CC critical to the formation of stage II melanosomes.
CC {ECO:0000269|PubMed:15695812, ECO:0000269|PubMed:19717472}.
CC -!- SUBUNIT: Interacts with PMEL. Interacts with GPR143.
CC {ECO:0000269|PubMed:15695812, ECO:0000269|PubMed:19717472,
CC ECO:0000269|PubMed:20417641}.
CC -!- INTERACTION:
CC Q16655; O95208-2: EPN2; NbExp=3; IntAct=EBI-2509726, EBI-12135243;
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type
CC III membrane protein. Golgi apparatus. Golgi apparatus, trans-Golgi
CC network membrane. Melanosome. Note=Also found in small vesicles and
CC tubules dispersed over the entire cytoplasm. A small fraction of the
CC protein is inserted into the membrane in an inverted orientation.
CC Inversion of membrane topology results in the relocalization of the
CC protein from a predominant Golgi/post-Golgi area to the endoplasmic
CC reticulum. Melanoma cells expressing the protein with an inverted
CC membrane topology are more effectively recognized by specific cytolytic
CC T-lymphocytes than those expressing the protein in its native membrane
CC orientation.
CC -!- TISSUE SPECIFICITY: Expression is restricted to melanoma and melanocyte
CC cell lines and retina.
CC -!- PTM: Acylated. {ECO:0000269|PubMed:12191019}.
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DR EMBL; U06452; AAA19238.1; -; mRNA.
DR EMBL; U06654; AAA20389.1; -; mRNA.
DR EMBL; CR450299; CAG29295.1; -; mRNA.
DR EMBL; AK312149; BAG35083.1; -; mRNA.
DR EMBL; AL365360; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471071; EAW58755.1; -; Genomic_DNA.
DR EMBL; CH471071; EAW58756.1; -; Genomic_DNA.
DR EMBL; BC014423; AAH14423.1; -; mRNA.
DR CCDS; CCDS6466.1; -.
DR PIR; A55253; A55253.
DR RefSeq; NP_005502.1; NM_005511.1.
DR PDB; 2GT9; X-ray; 1.75 A; C/F=26-35.
DR PDB; 2GTW; X-ray; 1.55 A; C/F=27-35.
DR PDB; 2GTZ; X-ray; 1.70 A; C/F=27-35.
DR PDB; 2GUO; X-ray; 1.90 A; C/F=27-35.
DR PDB; 3HG1; X-ray; 3.00 A; C=26-35.
DR PDB; 3L6F; X-ray; 2.10 A; C=100-114.
DR PDB; 3MRO; X-ray; 2.35 A; P=26-35.
DR PDB; 3MRP; X-ray; 2.10 A; P=26-35.
DR PDB; 3MRQ; X-ray; 2.20 A; P=26-35.
DR PDB; 3QDM; X-ray; 2.80 A; C=26-35.
DR PDB; 3QEQ; X-ray; 2.59 A; C=27-35.
DR PDB; 3QFD; X-ray; 1.68 A; C/F=27-35.
DR PDB; 4EUP; X-ray; 2.88 A; C/F=27-35.
DR PDB; 4JFF; X-ray; 2.43 A; C=26-35.
DR PDB; 4L3E; X-ray; 2.56 A; C=26-35.
DR PDB; 4QOK; X-ray; 3.00 A; C=26-35.
DR PDB; 4WJ5; X-ray; 1.65 A; C/F=28-34.
DR PDB; 5E9D; X-ray; 2.51 A; C/H=26-35.
DR PDB; 5NHT; X-ray; 3.20 A; P=26-35.
DR PDB; 5NQK; X-ray; 3.25 A; P=26-35.
DR PDB; 6D78; X-ray; 2.35 A; C=27-35.
DR PDB; 6DKP; X-ray; 2.97 A; C=26-35.
DR PDB; 6TMO; X-ray; 2.10 A; C=26-35.
DR PDBsum; 2GT9; -.
DR PDBsum; 2GTW; -.
DR PDBsum; 2GTZ; -.
DR PDBsum; 2GUO; -.
DR PDBsum; 3HG1; -.
DR PDBsum; 3L6F; -.
DR PDBsum; 3MRO; -.
DR PDBsum; 3MRP; -.
DR PDBsum; 3MRQ; -.
DR PDBsum; 3QDM; -.
DR PDBsum; 3QEQ; -.
DR PDBsum; 3QFD; -.
DR PDBsum; 4EUP; -.
DR PDBsum; 4JFF; -.
DR PDBsum; 4L3E; -.
DR PDBsum; 4QOK; -.
DR PDBsum; 4WJ5; -.
DR PDBsum; 5E9D; -.
DR PDBsum; 5NHT; -.
DR PDBsum; 5NQK; -.
DR PDBsum; 6D78; -.
DR PDBsum; 6DKP; -.
DR PDBsum; 6TMO; -.
DR AlphaFoldDB; Q16655; -.
DR SMR; Q16655; -.
DR BioGRID; 108604; 3.
DR IntAct; Q16655; 5.
DR MINT; Q16655; -.
DR STRING; 9606.ENSP00000370886; -.
DR GlyGen; Q16655; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q16655; -.
DR PhosphoSitePlus; Q16655; -.
DR SwissPalm; Q16655; -.
DR BioMuta; MLANA; -.
DR DMDM; 2833278; -.
DR EPD; Q16655; -.
DR jPOST; Q16655; -.
DR MassIVE; Q16655; -.
DR PaxDb; Q16655; -.
DR PeptideAtlas; Q16655; -.
DR PRIDE; Q16655; -.
DR ProteomicsDB; 61014; -.
DR ABCD; Q16655; 7 sequenced antibodies.
DR Antibodypedia; 3661; 2335 antibodies from 48 providers.
DR DNASU; 2315; -.
DR Ensembl; ENST00000381471.1; ENSP00000370880.1; ENSG00000120215.10.
DR Ensembl; ENST00000381476.5; ENSP00000370885.1; ENSG00000120215.10.
DR Ensembl; ENST00000381477.8; ENSP00000370886.3; ENSG00000120215.10.
DR GeneID; 2315; -.
DR KEGG; hsa:2315; -.
DR MANE-Select; ENST00000381477.8; ENSP00000370886.3; NM_005511.2; NP_005502.1.
DR UCSC; uc003zjo.2; human.
DR CTD; 2315; -.
DR DisGeNET; 2315; -.
DR GeneCards; MLANA; -.
DR HGNC; HGNC:7124; MLANA.
DR HPA; ENSG00000120215; Tissue enriched (skin).
DR MIM; 605513; gene.
DR neXtProt; NX_Q16655; -.
DR OpenTargets; ENSG00000120215; -.
DR PharmGKB; PA30842; -.
DR VEuPathDB; HostDB:ENSG00000120215; -.
DR eggNOG; ENOG502S51B; Eukaryota.
DR GeneTree; ENSGT00390000009531; -.
DR HOGENOM; CLU_167667_0_0_1; -.
DR InParanoid; Q16655; -.
DR OMA; GMPRGDF; -.
DR PhylomeDB; Q16655; -.
DR TreeFam; TF338577; -.
DR PathwayCommons; Q16655; -.
DR SignaLink; Q16655; -.
DR SIGNOR; Q16655; -.
DR BioGRID-ORCS; 2315; 10 hits in 1059 CRISPR screens.
DR ChiTaRS; MLANA; human.
DR EvolutionaryTrace; Q16655; -.
DR GeneWiki; MLANA; -.
DR GenomeRNAi; 2315; -.
DR Pharos; Q16655; Tbio.
DR PRO; PR:Q16655; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q16655; protein.
DR Bgee; ENSG00000120215; Expressed in upper leg skin and 105 other tissues.
DR ExpressionAtlas; Q16655; baseline and differential.
DR Genevisible; Q16655; HS.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IDA:UniProtKB.
DR GO; GO:0005794; C:Golgi apparatus; IDA:UniProtKB.
DR GO; GO:0005887; C:integral component of plasma membrane; TAS:ProtInc.
DR GO; GO:0042470; C:melanosome; IDA:UniProtKB.
DR GO; GO:0005802; C:trans-Golgi network; IDA:UniProtKB.
DR InterPro; IPR029242; MLANA.
DR PANTHER; PTHR15305; PTHR15305; 1.
DR Pfam; PF14991; MLANA; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Endoplasmic reticulum; Golgi apparatus; Membrane;
KW Phosphoprotein; Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..118
FT /note="Melanoma antigen recognized by T-cells 1"
FT /id="PRO_0000096238"
FT TRANSMEM 27..47
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 48..118
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REGION 78..118
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 108
FT /note="Phosphoserine"
FT /evidence="ECO:0000269|PubMed:20417641"
FT STRAND 29..31
FT /evidence="ECO:0007829|PDB:2GTW"
SQ SEQUENCE 118 AA; 13157 MW; B755BFF39CFCB16E CRC64;
MPREDAHFIY GYPKKGHGHS YTTAEEAAGI GILTVILGVL LLIGCWYCRR RNGYRALMDK
SLHVGTQCAL TRRCPQEGFD HRDSKVSLQE KNCEPVVPNA PPAYEKLSAE QSPPPYSP
