ID   MAR1_HUMAN              Reviewed;         118 AA.
AC   Q16655;
DT   01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT   01-NOV-1996, sequence version 1.
DT   03-NOV-2009, entry version 67.
DE   RecName: Full=Melanoma antigen recognized by T-cells 1;
DE            Short=MART-1;
DE            Short=Melan-A protein;
DE   AltName: Full=Antigen SK29-AA;
DE   AltName: Full=Antigen LB39-AA;
GN   Name=MLANA; Synonyms=MART1;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RC   TISSUE=Melanoma;
RX   MEDLINE=94224770; 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
RT   recognized 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   MEDLINE=94275389; 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
RT   autologous 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=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
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [4]
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-
RT   AMART-1 influences the processing of its HLA-A2-restricted epitope.";
RL   J. Biol. Chem. 276:43189-43196(2001).
RN   [5]
RP   SUBCELLULAR LOCATION, AND ACYLATION.
RX   PubMed=12191019;
RA   De Maziere A.M., Muehlethaler K., van Donselaar E., Salvi S.,
RA   Davoust J., 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   [6]
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.,
RA   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).
CC   -!- FUNCTION: Plays a vital role in the expression, stability,
CC       trafficking, and processing of melanocyte protein SILV/PMEL17,
CC       which is critical to the formation of stage II melanosomes.
CC   -!- SUBUNIT: Interacts with SILV/PMEL17.
CC   -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass
CC       type III membrane protein. Golgi apparatus. Golgi apparatus,
CC       trans-Golgi network membrane. Melanosome. Note=Also found in small
CC       vesicles and tubules dispersed over the entire cytoplasm. A small
CC       fraction of the protein is inserted into the membrane in an
CC       inverted orientation. Inversion of membrane topology results in
CC       the relocalization of the protein from a predominant Golgi/post-
CC       Golgi area to the endoplasmic reticulum. Melanoma cells expressing
CC       the protein with an inverted membrane topology are more
CC       effectively recognized by specific cytolytic T-lymphocytes than
CC       those expressing the protein in its native membrane orientation.
CC   -!- TISSUE SPECIFICITY: Expression is restricted to melanoma and
CC       melanocyte cell lines and retina.
CC   -!- PTM: Acylated.
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DR   EMBL; U06452; AAA19238.1; -; mRNA.
DR   EMBL; U06654; AAA20389.1; -; mRNA.
DR   EMBL; BC014423; AAH14423.1; -; mRNA.
DR   IPI; IPI00003426; -.
DR   PIR; A55253; A55253.
DR   RefSeq; NP_005502.1; -.
DR   UniGene; Hs.154069; -.
DR   PDB; 2GT9; X-ray; 1.75 A; C/F=26-35.
DR   PDB; 2GTW; X-ray; 1.55 A; C/F=28-35.
DR   PDB; 2GTZ; X-ray; 1.70 A; C/F=29-35.
DR   PDB; 2GUO; X-ray; 1.90 A; C/F=27-35.
DR   PDBsum; 2GT9; -.
DR   PDBsum; 2GTW; -.
DR   PDBsum; 2GTZ; -.
DR   PDBsum; 2GUO; -.
DR   STRING; Q16655; -.
DR   PhosphoSite; Q16655; -.
DR   PRIDE; Q16655; -.
DR   Ensembl; ENST00000381471; ENSP00000370880; ENSG00000120215; Homo sapiens.
DR   Ensembl; ENST00000381476; ENSP00000370885; ENSG00000120215; Homo sapiens.
DR   Ensembl; ENST00000381477; ENSP00000370886; ENSG00000120215; Homo sapiens.
DR   GeneID; 2315; -.
DR   KEGG; hsa:2315; -.
DR   UCSC; uc003zjo.1; human.
DR   CTD; 2315; -.
DR   GeneCards; GC09P005880; -.
DR   H-InvDB; HIX0007904; -.
DR   HGNC; HGNC:7124; MLANA.
DR   HPA; CAB000057; -.
DR   MIM; 605513; gene.
DR   PharmGKB; PA30842; -.
DR   HOGENOM; Q16655; -.
DR   HOVERGEN; Q16655; -.
DR   OMA; YRTLTDK; -.
DR   NextBio; 9401; -.
DR   ArrayExpress; Q16655; -.
DR   Bgee; Q16655; -.
DR   CleanEx; HS_MLANA; -.
DR   Genevestigator; Q16655; -.
DR   GermOnline; ENSG00000120215; Homo sapiens.
DR   GO; GO:0005789; C:endoplasmic reticulum membrane; IDA:UniProtKB.
DR   GO; GO:0005887; C:integral to plasma membrane; TAS:ProtInc.
DR   GO; GO:0042470; C:melanosome; IDA:UniProtKB.
DR   GO; GO:0005802; C:trans-Golgi network; IDA:UniProtKB.
DR   GO; GO:0005515; F:protein binding; IPI:UniProtKB.
PE   1: Evidence at protein level;
KW   3D-structure; Complete proteome; Endoplasmic reticulum;
KW   Golgi apparatus; Membrane; Transmembrane.
FT   CHAIN         1    118       Melanoma antigen recognized by T-cells 1.
FT                                /FTId=PRO_0000096238.
FT   TRANSMEM     27     47       Potential.
FT   TOPO_DOM     48    118       Cytoplasmic (Potential).
SQ   SEQUENCE   118 AA;  13157 MW;  B755BFF39CFCB16E CRC64;
     MPREDAHFIY GYPKKGHGHS YTTAEEAAGI GILTVILGVL LLIGCWYCRR RNGYRALMDK
     SLHVGTQCAL TRRCPQEGFD HRDSKVSLQE KNCEPVVPNA PPAYEKLSAE QSPPPYSP
//