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Protein

Melanoma antigen recognized by T-cells 1

Gene

MLANA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

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 Componenti: 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.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei27 – 4721HelicalSequence AnalysisAdd
BLAST
Topological domaini48 – 11871CytoplasmicSequence AnalysisAdd
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 GPR143.3 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 – 313Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
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[»]
4QOKX-ray3.00C26-35[»]
ProteinModelPortaliQ16655.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ16655.

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG39695.
GeneTreeiENSGT00390000009531.
HOGENOMiHOG000113481.
HOVERGENiHBG006327.
InParanoidiQ16655.
KOiK17303.
OMAiHQDSKLP.
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

        10         20         30         40         50
MPREDAHFIY GYPKKGHGHS YTTAEEAAGI GILTVILGVL LLIGCWYCRR
60 70 80 90 100
RNGYRALMDK SLHVGTQCAL TRRCPQEGFD HRDSKVSLQE KNCEPVVPNA
110
PPAYEKLSAE QSPPPYSP
Length:118
Mass (Da):13,157
Last modified:November 1, 1996 - v1
Checksum:iB755BFF39CFCB16E
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
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[»]
4QOKX-ray3.00C26-35[»]
ProteinModelPortaliQ16655.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

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

PTM databases

PhosphoSiteiQ16655.

Polymorphism databases

DMDMi2833278.

Proteomic databases

PaxDbiQ16655.
PRIDEiQ16655.

Protocols and materials databases

DNASUi2315.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi2315.
GeneCardsiGC09P005846.
HGNCiHGNC:7124. MLANA.
HPAiCAB000057.
HPA048662.
MIMi605513. gene.
neXtProtiNX_Q16655.
PharmGKBiPA30842.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG39695.
GeneTreeiENSGT00390000009531.
HOGENOMiHOG000113481.
HOVERGENiHBG006327.
InParanoidiQ16655.
KOiK17303.
OMAiHQDSKLP.
OrthoDBiEOG708W29.
PhylomeDBiQ16655.
TreeFamiTF338577.

Miscellaneous databases

ChiTaRSiMLANA. human.
EvolutionaryTraceiQ16655.
GeneWikiiMLANA.
GenomeRNAii2315.
NextBioi9401.
PROiQ16655.
SOURCEiSearch...

Gene expression databases

BgeeiQ16655.
CleanExiHS_MLANA.
GenevestigatoriQ16655.

Family and domain databases

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

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(1993) [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(1993) [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(2003) [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 (APR-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(2003) [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(2003) [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(2000) [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(2001) [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(2004) [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(2008) [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(2009) [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: March 4, 2015
This is version 110 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.