MLANA (melan-A)

2003-06-01  

Identity

HGNC
LOCATION
9p24.1
LOCUSID
ALIAS
MART-1,MART1
FUSION GENES

Other Information

Locus ID:

NCBI: 2315
MIM: 605513
HGNC: 7124
Ensembl: ENSG00000120215

Variants:

dbSNP: 2315
ClinVar: 2315
TCGA: ENSG00000120215
COSMIC: MLANA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000120215ENST00000381471Q16655
ENSG00000120215ENST00000381471A0A384MR46
ENSG00000120215ENST00000381476Q16655
ENSG00000120215ENST00000381476A0A384MR46
ENSG00000120215ENST00000381477Q16655
ENSG00000120215ENST00000381477A0A384MR46

Expression (GTEx)

0
5
10
15

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
128190382003MLANA/MART1 and SILV/PMEL17/GP100 are transcriptionally regulated by MITF in melanocytes and melanoma.69
170506712006Role of the mitogen-activated protein kinase signaling pathway in the regulation of human melanocytic antigen expression.54
177190622007Structures of MART-126/27-35 Peptide/HLA-A2 complexes reveal a remarkable disconnect between antigen structural homology and T cell recognition.46
156958122005MART-1 is required for the function of the melanosomal matrix protein PMEL17/GP100 and the maturation of melanosomes.44
225292532012Functional T cells targeting NY-ESO-1 or Melan-A are predictive for survival of patients with distant melanoma metastasis.44
118543612002Thymic selection generates a large T cell pool recognizing a self-peptide in humans.35
197174722009The ocular albinism type 1 (OA1) G-protein-coupled receptor functions with MART-1 at early stages of melanogenesis to control melanosome identity and composition.29
121193452002Degeneracy of antigen recognition as the molecular basis for the high frequency of naive A2/Melan-a peptide multimer(+) CD8(+) T cells in humans.27
129252142003Cytotoxic T lymphocyte reactivity to gp100, MelanA/MART-1, and tyrosinase, in HLA-A2-positive vitiligo patients.24
229259302012Analysis of the processing of seven human tumor antigens by intermediate proteasomes.24

Citation

Dessen P

MLANA (melan-A)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/41373/mlana