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Q16655

- MAR1_HUMAN

UniProt

Q16655 - MAR1_HUMAN

Protein

Melanoma antigen recognized by T-cells 1

Gene

MLANA

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
  1. Functioni

    Involved in melanosome biogenesis by ensuring the stability of GPR143. Plays a vital role in the expression, stability, trafficking, and processing of melanocyte protein PMEL, which is critical to the formation of stage II melanosomes.2 Publications

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Melanoma antigen recognized by T-cells 1
    Short name:
    MART-1
    Alternative name(s):
    Antigen LB39-AA
    Antigen SK29-AA
    Protein Melan-A
    Gene namesi
    Name:MLANA
    Synonyms:MART1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:7124. MLANA.

    Subcellular locationi

    Endoplasmic reticulum membrane; Single-pass type III membrane protein. Golgi apparatus. Golgi apparatustrans-Golgi network membrane. Melanosome
    Note: Also found in small vesicles and tubules dispersed over the entire cytoplasm. A small fraction of the protein is inserted into the membrane in an inverted orientation. Inversion of membrane topology results in the relocalization of the protein from a predominant Golgi/post-Golgi area to the endoplasmic reticulum. Melanoma cells expressing the protein with an inverted membrane topology are more effectively recognized by specific cytolytic T-lymphocytes than those expressing the protein in its native membrane orientation.

    GO - Cellular componenti

    1. endoplasmic reticulum membrane Source: UniProtKB
    2. Golgi apparatus Source: UniProtKB
    3. integral component of plasma membrane Source: ProtInc
    4. melanosome Source: UniProtKB
    5. trans-Golgi network Source: UniProtKB

    Keywords - Cellular componenti

    Endoplasmic reticulum, Golgi apparatus, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA30842.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 118118Melanoma antigen recognized by T-cells 1PRO_0000096238Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei108 – 1081Phosphoserine1 Publication

    Post-translational modificationi

    Acylated.1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    PaxDbiQ16655.
    PRIDEiQ16655.

    PTM databases

    PhosphoSiteiQ16655.

    Expressioni

    Tissue specificityi

    Expression is restricted to melanoma and melanocyte cell lines and retina.

    Gene expression databases

    BgeeiQ16655.
    CleanExiHS_MLANA.
    GenevestigatoriQ16655.

    Organism-specific databases

    HPAiCAB000057.
    HPA048662.

    Interactioni

    Subunit structurei

    Interacts with PMEL. Interacts with GPR143.3 Publications

    Protein-protein interaction databases

    BioGridi108604. 3 interactions.
    IntActiQ16655. 3 interactions.
    MINTiMINT-7889633.
    STRINGi9606.ENSP00000370880.

    Structurei

    Secondary structure

    1
    118
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi29 – 313

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2GT9X-ray1.75C/F26-35[»]
    2GTWX-ray1.55C/F27-35[»]
    2GTZX-ray1.70C/F27-35[»]
    2GUOX-ray1.90C/F27-35[»]
    3HG1X-ray3.00C26-35[»]
    3L6FX-ray2.10C100-114[»]
    3MROX-ray2.35P26-35[»]
    3MRPX-ray2.10P26-35[»]
    3MRQX-ray2.20P26-35[»]
    3QDMX-ray2.80C26-35[»]
    3QEQX-ray2.59C27-35[»]
    3QFDX-ray1.68C/F27-35[»]
    4EUPX-ray2.88C/F27-35[»]
    4EUQX-ray2.69C/F26-35[»]
    4JFFX-ray2.43C26-35[»]
    4L3EX-ray2.56C26-35[»]
    ProteinModelPortaliQ16655.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ16655.

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini48 – 11871CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei27 – 4721HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG39695.
    HOGENOMiHOG000113481.
    HOVERGENiHBG006327.
    InParanoidiQ16655.
    KOiK17303.
    OMAiATRAHNE.
    OrthoDBiEOG708W29.
    PhylomeDBiQ16655.
    TreeFamiTF338577.

    Family and domain databases

    InterProiIPR029242. MLANA.
    [Graphical view]
    PfamiPF14991. MLANA. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q16655-1 [UniParc]FASTAAdd to Basket

    « Hide

    MPREDAHFIY GYPKKGHGHS YTTAEEAAGI GILTVILGVL LLIGCWYCRR    50
    RNGYRALMDK SLHVGTQCAL TRRCPQEGFD HRDSKVSLQE KNCEPVVPNA 100
    PPAYEKLSAE QSPPPYSP 118
    Length:118
    Mass (Da):13,157
    Last modified:November 1, 1996 - v1
    Checksum:iB755BFF39CFCB16E
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U06452 mRNA. Translation: AAA19238.1.
    U06654 mRNA. Translation: AAA20389.1.
    CR450299 mRNA. Translation: CAG29295.1.
    AK312149 mRNA. Translation: BAG35083.1.
    AL365360 Genomic DNA. Translation: CAI95312.1.
    CH471071 Genomic DNA. Translation: EAW58755.1.
    CH471071 Genomic DNA. Translation: EAW58756.1.
    BC014423 mRNA. Translation: AAH14423.1.
    CCDSiCCDS6466.1.
    PIRiA55253.
    RefSeqiNP_005502.1. NM_005511.1.
    XP_006716805.1. XM_006716742.1.
    UniGeneiHs.154069.

    Genome annotation databases

    EnsembliENST00000381471; ENSP00000370880; ENSG00000120215.
    ENST00000381476; ENSP00000370885; ENSG00000120215.
    ENST00000381477; ENSP00000370886; ENSG00000120215.
    GeneIDi2315.
    KEGGihsa:2315.
    UCSCiuc003zjo.1. human.

    Polymorphism databases

    DMDMi2833278.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U06452 mRNA. Translation: AAA19238.1 .
    U06654 mRNA. Translation: AAA20389.1 .
    CR450299 mRNA. Translation: CAG29295.1 .
    AK312149 mRNA. Translation: BAG35083.1 .
    AL365360 Genomic DNA. Translation: CAI95312.1 .
    CH471071 Genomic DNA. Translation: EAW58755.1 .
    CH471071 Genomic DNA. Translation: EAW58756.1 .
    BC014423 mRNA. Translation: AAH14423.1 .
    CCDSi CCDS6466.1.
    PIRi A55253.
    RefSeqi NP_005502.1. NM_005511.1.
    XP_006716805.1. XM_006716742.1.
    UniGenei Hs.154069.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2GT9 X-ray 1.75 C/F 26-35 [» ]
    2GTW X-ray 1.55 C/F 27-35 [» ]
    2GTZ X-ray 1.70 C/F 27-35 [» ]
    2GUO X-ray 1.90 C/F 27-35 [» ]
    3HG1 X-ray 3.00 C 26-35 [» ]
    3L6F X-ray 2.10 C 100-114 [» ]
    3MRO X-ray 2.35 P 26-35 [» ]
    3MRP X-ray 2.10 P 26-35 [» ]
    3MRQ X-ray 2.20 P 26-35 [» ]
    3QDM X-ray 2.80 C 26-35 [» ]
    3QEQ X-ray 2.59 C 27-35 [» ]
    3QFD X-ray 1.68 C/F 27-35 [» ]
    4EUP X-ray 2.88 C/F 27-35 [» ]
    4EUQ X-ray 2.69 C/F 26-35 [» ]
    4JFF X-ray 2.43 C 26-35 [» ]
    4L3E X-ray 2.56 C 26-35 [» ]
    ProteinModelPortali Q16655.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108604. 3 interactions.
    IntActi Q16655. 3 interactions.
    MINTi MINT-7889633.
    STRINGi 9606.ENSP00000370880.

    PTM databases

    PhosphoSitei Q16655.

    Polymorphism databases

    DMDMi 2833278.

    Proteomic databases

    PaxDbi Q16655.
    PRIDEi Q16655.

    Protocols and materials databases

    DNASUi 2315.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000381471 ; ENSP00000370880 ; ENSG00000120215 .
    ENST00000381476 ; ENSP00000370885 ; ENSG00000120215 .
    ENST00000381477 ; ENSP00000370886 ; ENSG00000120215 .
    GeneIDi 2315.
    KEGGi hsa:2315.
    UCSCi uc003zjo.1. human.

    Organism-specific databases

    CTDi 2315.
    GeneCardsi GC09P005846.
    HGNCi HGNC:7124. MLANA.
    HPAi CAB000057.
    HPA048662.
    MIMi 605513. gene.
    neXtProti NX_Q16655.
    PharmGKBi PA30842.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG39695.
    HOGENOMi HOG000113481.
    HOVERGENi HBG006327.
    InParanoidi Q16655.
    KOi K17303.
    OMAi ATRAHNE.
    OrthoDBi EOG708W29.
    PhylomeDBi Q16655.
    TreeFami TF338577.

    Miscellaneous databases

    EvolutionaryTracei Q16655.
    GeneWikii MLANA.
    GenomeRNAii 2315.
    NextBioi 9401.
    PROi Q16655.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q16655.
    CleanExi HS_MLANA.
    Genevestigatori Q16655.

    Family and domain databases

    InterProi IPR029242. MLANA.
    [Graphical view ]
    Pfami PF14991. MLANA. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Cloning of the gene coding for a shared human melanoma antigen recognized by autologous T cells infiltrating into tumor."
      Kawakami Y., Eliyahu S., Delgado C.H., Robbins P.F., Rivoltini L., Topalian S.L., Miki T., Rosenberg S.A.
      Proc. Natl. Acad. Sci. U.S.A. 91:3515-3519(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Melanoma.
    2. "A new gene coding for a differentiation antigen recognized by autologous cytolytic T lymphocytes on HLA-A2 melanomas."
      Coulie P.G., Brichard V., van Pel A., Woelfel T., Schneider J., Traversari C., Mattei S., de Plaen E., Lurquin C., Szikora J.-P., Renauld J.-C., Boon T.
      J. Exp. Med. 180:35-42(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Amygdala.
    4. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
      Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
      Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    5. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Skin.
    8. "Subcellular localization of the melanoma-associated protein Melan-AMART-1 influences the processing of its HLA-A2-restricted epitope."
      Rimoldi D., Muehlethaler K., Salvi S., Valmori D., Romero P., Cerottini J.C., Levy F.
      J. Biol. Chem. 276:43189-43196(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    9. "The melanocytic protein Melan-A/MART-1 has a subcellular localization distinct from typical melanosomal proteins."
      De Maziere A.M., Muehlethaler K., van Donselaar E., Salvi S., Davoust J., Cerottini J.-C., Levy F., Slot J.W., Rimoldi D.
      Traffic 3:678-693(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    10. "MART-1 is required for the function of the melanosomal matrix protein PMEL17/GP100 and the maturation of melanosomes."
      Hoashi T., Watabe H., Muller J., Yamaguchi Y., Vieira W.D., Hearing V.J.
      J. Biol. Chem. 280:14006-14016(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH SILV.
    11. "The ocular albinism type 1 (OA1) G-protein-coupled receptor functions with MART-1 at early stages of melanogenesis to control melanosome identity and composition."
      Giordano F., Bonetti C., Surace E.M., Marigo V., Raposo G.
      Hum. Mol. Genet. 18:4530-4545(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, INTERACTION WITH GPR143.
    12. "Structural basis for the presentation of tumor-associated MHC class II-restricted phosphopeptides to CD4+ T cells."
      Li Y., Depontieu F.R., Sidney J., Salay T.M., Engelhard V.H., Hunt D.F., Sette A., Topalian S.L., Mariuzza R.A.
      J. Mol. Biol. 399:596-603(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.1 ANGSTROMS) OF 100-114 IN COMPLEX WITH HLA-DR1, PHOSPHORYLATION AT SER-108.

    Entry informationi

    Entry nameiMAR1_HUMAN
    AccessioniPrimary (citable) accession number: Q16655
    Secondary accession number(s): Q6ICU4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: November 1, 1996
    Last modified: October 1, 2014
    This is version 106 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 9
      Human chromosome 9: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references

    External Data

    Dasty 3