Reviewed, UniProtKB/Swiss-Prot Q16655 (MAR1_HUMAN)

Names and origin

Protein names

Recommended name:
    Melanoma antigen recognized by T-cells 1
      Short name=MART-1
      Short name=Melan-A protein
Alternative name(s):
    Antigen SK29-AA
    Antigen LB39-AA

Gene names

Name:	MLANA
Synonyms:	MART1

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	118 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Plays a vital role in the expression, stability, trafficking, and processing of melanocyte protein SILV/PMEL17, which is critical to the formation of stage II melanosomes. Ref.6
Subunit structure	Interacts with SILV/PMEL17. Ref.6
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.6 Ref.4 Ref.5
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
Technical term	3D-structure Complete proteome
Gene Ontology (GO)
Cellular component	endoplasmic reticulum membrane Ref.6 Inferred from direct assay. Source: UniProtKB integral to plasma membrane Ref.1 Traceable author statement. Source: ProtInc melanosome Ref.6 Inferred from direct assay. Source: UniProtKB trans-Golgi network Ref.5 Inferred from direct assay. Source: UniProtKB
Molecular function	protein binding Ref.6 Inferred from physical interaction. 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	Potential
	Topological domain	48 – 118	71	Cytoplasmic Potential

Sequences

	Sequence		Length	Mass (Da)
	Q16655-1 [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: 8170938] [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: 8006593] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[3]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Skin.
[4]	"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: 11551907] [Abstract] Cited for: SUBCELLULAR LOCATION.
[5]	"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: 12191019] [Abstract] Cited for: SUBCELLULAR LOCATION, ACYLATION.
[6]	"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: 15695812] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH SILV.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBLGenBankDDBJ

U06452 mRNA. Translation: AAA19238.1.
U06654 mRNA. Translation: AAA20389.1.
BC014423 mRNA. Translation: AAH14423.1.

IPI

IPI00003426.

PIR

A55253.

RefSeq

NP_005502.1.

UniGene

Hs.154069

3D structure databases

PDBPDBe

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	[»]

ModBase

Search...

Protein-protein interaction databases

STRING

Q16655.

PTM databases

PhosphoSite

Q16655.

Proteomic databases

PRIDE

Q16655.

Genome annotation databases

Ensembl

ENST00000381471; ENSP00000370880; ENSG00000120215; Homo sapiens. [Genome view]
ENST00000381476; ENSP00000370885; ENSG00000120215; Homo sapiens. [Genome view]
ENST00000381477; ENSP00000370886; ENSG00000120215; Homo sapiens. [Genome view]

GeneID

2315.

KEGG

hsa:2315.

UCSC

uc003zjo.1. human.

Organism-specific databases

CTD

2315.

GeneCards

GC09P005880.

H-InvDB

HIX0007904.

HGNC

HGNC:7124. MLANA.

HPA

CAB000057.

MIM

605513. gene.

PharmGKB

PA30842.

GenAtlas

Search...

Phylogenomic databases

HOGENOM

Q16655.

HOVERGEN

Q16655.

OMA

YRTLTDK.

Gene expression databases

ArrayExpress

Q16655.

Bgee

Q16655.

CleanEx

HS_MLANA.

Genevestigator

Q16655.

GermOnline

ENSG00000120215. Homo sapiens.

Family and domain databases

ProtoNet

Search...

Other Resources

NextBio

9401.

SOURCE

Search...

Entry information

Entry name

MAR1_HUMAN

Accession

Primary (citable) accession number: Q16655

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	November 1, 1996
Last modified:	November 3, 2009
This is version 67 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.