MLANA melan-A [Homo sapiens] - Gene

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Summary

Official Symbol: MLANAprovided by HGNC
Official Full Name: melan-Aprovided by HGNC
Primary source: HGNC:7124
Locus tag: RP11-546N22.1
See related: Ensembl:ENSG00000120215; HPRD:09269; MIM:605513; Vega:OTTHUMG00000019510
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MART1; MART-1

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Genomic context

Location :: 9p24.1

Sequence :: Chromosome: 9; NC_000009.11 (5890909..5909822)

See MLANA in Epigenomics, MapViewer

Chromosome 9 - NC_000009.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Aberrant expression of Melan-A and MART-1 in AFX and undifferentiated pleomorphic sarcoma of the skin represents an important diagnostic pitfall with potential for misdiagnosis as melanoma.
Title: Aberrant Melan-A expression in atypical fibroxanthoma and undifferentiated pleomorphic sarcoma of the skin.
MART-1- and gp100-expressing and -non-expressing melanoma cells are equally proliferative in tumors and clonogenic in vitro.
Title: MART-1- and gp100-expressing and -non-expressing melanoma cells are equally proliferative in tumors and clonogenic in vitro.
we established several CD4 T-cell clones that recognized a peptide that is embedded within Melan-A/MART-121-50, in a HLA-DPB1*0501 restricted manner
Title: Identification of an HLA-DPB1*0501 restricted Melan-A/MART-1 epitope recognized by CD4+ T lymphocytes: prevalence for immunotherapy in Asian populations.
Melanocyte MART-1 may correlate to the autoimmune mechanism in children with vitiligo.
Title: [Detection of serum autoantibodies to melanocyte and correlation between melanoma antigen recognized by T-cells and vitiligo in children].
The differential expression of Mart-1 was investigated in four human uveal melanoma cells.
Title: Differential expression of Mart-1 in human uveal melanoma cells.
Translocation of the BCL2 gene on the chromosome band 18q21.3 and MYC translocation to 14q32/IGH or less commonly to 2p11/IGK in an identical cell is termed BCL2 and MYC dual-hit lymphoma/leukemia
Title: An immunohistochemical comparison between MiTF and MART-1 with Azure blue counterstaining in the setting of solar lentigo and melanoma in situ.
Both semiscale and fullscale quantitative analyses of Ki67/MART1 stains are valuable diagnostic tools to distinguish melanomas and nevi with a large degree of certainty.
Title: Immunohistochemical double stains against Ki67/MART1 and HMB45/MITF: promising diagnostic tools in melanocytic lesions.
Molecular upstaging of MART-1 using rt-pcr was correlated with prognosis in melanoma patients
Title: Molecular upstaging based on paraffin-embedded sentinel lymph nodes: ten-year follow-up confirms prognostic utility in melanoma patients.
determined the crystal structure of a phosphopeptide derived from melanoma antigen recognized by T cells-1 (pMART-1), selectively expressed by melanomas, in complex with HLA-DR1
Title: Structural basis for the presentation of tumor-associated MHC class II-restricted phosphopeptides to CD4+ T cells.
OA1 interacts with MART-1 at early stages of melanogenesis to control melanosome identity and composition.
Title: 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.

Submit: New GeneRIF Correction See all (36)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
BioGRID:108604	BioGRID:123747	ITCH	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:108604	BioGRID:110811	NEDD4	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:108604	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
integral to plasma membrane	TAS Traceable Author Statement more info	PubMed
melanosome	IDA Inferred from Direct Assay more info	PubMed
membrane	IEA Inferred from Electronic Annotation more info
trans-Golgi network	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: melanoma antigen recognized by T-cells 1

Names: melanoma antigen recognized by T-cells 1; antigen LB39-AA; antigen SK29-AA; protein Melan-A

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_005511.1 → NP_005502.1 melanoma antigen recognized by T-cells 1

Status: VALIDATED

Source sequence(s)

U06452

Consensus CDS

CCDS6466.1

UniProtKB/Swiss-Prot

Q16655

UniProtKB/TrEMBL

Q6ICU4

Related

ENSP00000370886, OTTHUMP00000021036, ENST00000381477, OTTHUMT00000051643

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000009.11 Reference GRCh37.p5 Primary Assembly

Range

5890909..5909822

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000141.1 Alternate HuRef

Range

5846729..5865643

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL365360.9	CAI95312.1
genomic	CH471071.2	EAW58755.1
		EAW58756.1
mRNA	AK312149.1	BAG35083.1
mRNA	BC014423.1	AAH14423.1
mRNA	CR450299.1	CAG29295.1
mRNA	U06452.1	AAA19238.1
mRNA	U06654.1	AAA20389.1
other-genetic	DQ892257.2	ABM83183.1
other-genetic	DQ895459.2	ABM86385.1