MLANA melan-A [Homo sapiens (human)] - Gene

Summary

Official Symbol: MLANAprovided by HGNC
Official Full Name: melan-Aprovided by HGNC
Primary source: HGNC:HGNC:7124
See related: Ensembl:ENSG00000120215 MIM:605513; AllianceGenome:HGNC:7124
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
Summary: Located in endoplasmic reticulum membrane; melanosome; and trans-Golgi network. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in skin (RPKM 15.6) and colon (RPKM 0.2) See more
Orthologs: mouse all
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Genomic context

Location:: 9p24.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (5890889..5910606)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (5896039..5915758)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (5890889..5910606)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Expression of Melan-A in cutaneous granular cell tumours: a diagnostic pitfall.
Title: Expression of Melan-A in cutaneous granular cell tumours: a diagnostic pitfall.
Staged Excision of Lentigo Maligna of the Head and Neck: Assessing Surgical Excision Margins With Melan A, SOX10, and PRAME Immunohistochemistry.
Title: Staged Excision of Lentigo Maligna of the Head and Neck: Assessing Surgical Excision Margins With Melan A, SOX10, and PRAME Immunohistochemistry.
in vitro-generated MART-1-specific T cells used almost all TRAV gene families and displayed unique CDR3 lengths.
Title: In vitro-generated MART-1-specific CD8 T cells display a broader T-cell receptor repertoire than ex vivo naïve and tumor-infiltrating lymphocytes.
work shows that antigen-specific and MHC-restricted gammadelta T cells can be generated in vitro and that MART-1-specific gammadelta T cells can also be found and cloned from the naive repertoire
Title: Generation and molecular recognition of melanoma-associated antigen-specific human γδ T cells.
Expression of HMB45, MelanA and SOX10 is evident but exceedingly rare in non-small cell lung cancer cases
Title: Expression of HMB45, MelanA and SOX10 is rare in non-small cell lung cancer.
Melan-A-stained slides shows definitive invasion.
Title: Detection of Occult Invasion in Melanoma In Situ.
Report automated quantification of proliferation with automated hot-spot selection in phosphohistone H3/MART1 dual-stained stage I/II melanoma.
Title: Automated quantification of proliferation with automated hot-spot selection in phosphohistone H3/MART1 dual-stained stage I/II melanoma.
Suggest MelanA-negative spindle-cell associated melanoma constitutes a distinct inflammatory phenotype correlated with dense infiltration of CD163 macrophages and loss of E-cadherin.
Title: MelanA-negative spindle-cell associated melanoma, a distinct inflammatory phenotype correlated with dense infiltration of CD163 macrophages and loss of E-cadherin.
Inhibin alpha-subunit, Melan A and MNF116 were not sensitive for pheochromocytomas.
Title: Inhibin alpha-subunit, Melan A and MNF116 in pheochromocytomas.
the presence of antibody and T-cell immune responses directed against the melanocyte-differentiation-antigens MART-1 (Melan-A), tyrosinase and gp100 in patients with melanoma-associated leucoderma, as compared to patients with vitiligo.
Title: The antibody response against MART-1 differs in patients with melanoma-associated leucoderma and vitiligo.

Submit: New GeneRIF Correction See all GeneRIFs (56)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of melan-A (MLANA) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

RH47692 (e-PCR)
- UniSTS:7891

RH98492 (e-PCR)
- UniSTS:83923

MLANA_186 (e-PCR)
- UniSTS:277488

Gene Ontology Provided by GOA

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

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in melanosome	IBA Inferred from Biological aspect of Ancestor more info
located_in melanosome	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed
is_active_in trans-Golgi network	IBA Inferred from Biological aspect of Ancestor more info
located_in trans-Golgi network	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: melanoma antigen recognized by T-cells 1

Names: antigen LB39-AA; antigen SK29-AA; epididymis secretory sperm binding protein; protein Melan-A

NCBI Reference Sequences (RefSeq)

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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.