Q16655 (MAR1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	MLANA
Synonyms:	MART1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	118 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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. Ref.10 Ref.11
Subunit structure	Interacts with PMEL. Interacts with GPR143. Ref.10 Ref.11
Subcellular location	Endoplasmic reticulum membrane; Single-pass type III membrane protein. Golgi apparatus. Golgi apparatus › trans-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. Ref.8 Ref.9 Ref.10
Tissue specificity	Expression is restricted to melanoma and melanocyte cell lines and retina.
Post-translational modification	Acylated.

Ontologies

Keywords
Cellular component	Endoplasmic reticulum Golgi apparatus Membrane
Domain	Transmembrane Transmembrane helix
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	Golgi apparatus Inferred from direct assay Ref.9Ref.10. Source: UniProtKB endoplasmic reticulum membrane Inferred from direct assay Ref.10. Source: UniProtKB integral to plasma membrane Traceable author statement Ref.1. Source: ProtInc melanosome Inferred from direct assay Ref.10. Source: UniProtKB trans-Golgi network Inferred from direct assay Ref.9. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 118

118

Melanoma antigen recognized by T-cells 1

PRO_0000096238

Regions

Transmembrane

27 – 47

21

Helical; Potential

Topological domain

48 – 118

71

Cytoplasmic Potential

Amino acid modifications

Modified residue

108

1

Phosphoserine Ref.12

Secondary structure

1

.

.

.

118

Helix Strand Turn

Details...

Beta strand

29 – 31

3

Sequences

	Sequence		Length	Mass (Da)
	Q16655 [UniParc]. Last modified November 1, 1996. Version 1. Checksum: B755BFF39CFCB16E	FASTA	118	13,157
	10 20 30 40 50 60 MPREDAHFIY GYPKKGHGHS YTTAEEAAGI GILTVILGVL LLIGCWYCRR RNGYRALMDK 70 80 90 100 110 SLHVGTQCAL TRRCPQEGFD HRDSKVSLQE KNCEPVVPNA PPAYEKLSAE QSPPPYSP

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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]	Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases 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, ACYLATION.
[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.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

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.

IPI

IPI00003426.

PIR

A55253.

RefSeq

NP_005502.1. NM_005511.1.

UniGene

Hs.154069.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2GT9	X-ray	1.75	C/F	26-35	[»]
2GTW	X-ray	1.55	C/F	28-35	[»]
2GTZ	X-ray	1.70	C/F	29-35	[»]
2GUO	X-ray	1.90	C/F	27-35	[»]
3L6F	X-ray	2.10	C	100-114	[»]
3MRO	X-ray	2.35	P	28-35	[»]
3MRP	X-ray	2.10	P	28-35	[»]
3MRQ	X-ray	2.20	P	28-35	[»]

ProteinModelPortal

Q16655.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q16655. 1 interaction.

STRING

9606.ENSP00000370880.

PTM databases

PhosphoSite

Q16655.

Polymorphism databases

DMDM

2833278.

Proteomic databases

PaxDb

Q16655.

PRIDE

Q16655.

Protocols and materials databases

DNASU

2315.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000381471; ENSP00000370880; ENSG00000120215.
ENST00000381476; ENSP00000370885; ENSG00000120215.
ENST00000381477; ENSP00000370886; ENSG00000120215.

GeneID

2315.

KEGG

hsa:2315.

UCSC

uc003zjo.1. human.

Organism-specific databases

CTD

2315.

GeneCards

GC09P005846.

HGNC

HGNC:7124. MLANA.

HPA

CAB000057.

MIM

605513. gene.

neXtProt

NX_Q16655.

PharmGKB

PA30842.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG39695.

HOGENOM

HOG000113481.

HOVERGEN

HBG006327.

InParanoid

Q16655.

OMA

MPREEAH.

OrthoDB

EOG4FTW23.

PhylomeDB

Q16655.

Gene expression databases

Bgee

Q16655.

CleanEx

HS_MLANA.

Genevestigator

Q16655.

GermOnline

ENSG00000120215. Homo sapiens.

Family and domain databases

ProtoNet

Search...

Other

EvolutionaryTrace

Q16655.

GenomeRNAi

2315.

NextBio

9401.

SOURCE

Search...

Entry information

Entry name

MAR1_HUMAN

Accession

Primary (citable) accession number: Q16655
Secondary accession number(s): Q6ICU4

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	November 1, 1996
Last modified:	April 3, 2013
This is version 93 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.