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Q16655

- MAR1_HUMAN

UniProt

Q16655 - MAR1_HUMAN

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Protein

Melanoma antigen recognized by T-cells 1

Gene
MLANA, MART1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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.3 Publications

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei27 – 4721Helical; Reviewed predictionAdd
BLAST
Topological domaini48 – 11871Cytoplasmic Reviewed predictionAdd
BLAST

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
Complete GO annotation...

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 GPR143.2 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.

Miscellaneous databases

EvolutionaryTraceiQ16655.

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 105 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

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