MLANA Gene (Protein Coding)

Melan-A

GC09P005846
GIFtS:
39

Aliases for MLANA Gene

Aliases for MLANA Gene

  • Melan-A 2 3 5
  • Melanoma Antigen Recognized By T-Cells 1 3 4
  • Antigen LB39-AA 3 4
  • Antigen SK29-AA 3 4
  • Protein Melan-A 3 4
  • MART-1 3 4
  • MART1 3 4
  • Epididymis Secretory Sperm Binding Protein 3

External Ids for MLANA Gene

Previous GeneCards Identifiers for MLANA Gene

  • GC09P006044
  • GC09P005872
  • GC09P005880
  • GC09P005892

Summaries for MLANA Gene

GeneCards Summary for MLANA Gene

MLANA (Melan-A) is a Protein Coding gene. Diseases associated with MLANA include Angiomyolipoma and Perivascular Epithelioid Cell Tumor. Among its related pathways are NF-kappaB Signaling.

UniProtKB/Swiss-Prot Summary for MLANA Gene

  • 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.

Gene Wiki entry for MLANA Gene

Additional gene information for MLANA Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MLANA Gene

Genomics for MLANA Gene

GeneHancer (GH) Regulatory Elements for MLANA Gene

Promoters and enhancers for MLANA Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH09J005890 Promoter 0.3 EPDnew 500.7 0.0 -15 0.1 MLANA RF01210-392 KIAA2026
GH09J005850 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 12.5 -38.6 -38599 3.6 EP300 JUND RCOR1 TRIM22 BCL11A TCF12 FOS CEBPG SRF ARNT MLANA CD274 ERMP1 RIC1 PLGRKT AK4P4 lnc-ERMP1-3 lnc-ERMP1-2
GH09J005817 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.6 -72.6 -72588 3 TCF12 USF1 JUND CUX1 TOE1 EP300 TEAD1 CTBP1 ZNF316 CEBPB RF00017-7411 MLANA ERMP1 NONHSAG051723.2
GH09J005828 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.2 -62.3 -62288 1.6 NCOR1 KDM6A TBX3 FOXA2 SAP130 NBN SPI1 CREM FOXP1 ELF1 MLANA ERMP1 NONHSAG051723.2 RF00017-7411
GH09J005864 Enhancer 0.9 Ensembl ENCODE dbSUPER 13.2 -27.7 -27688 1.2 EP300 DEK TCF7L2 RXRA THRB HNF4A RXRB SP1 FOXA2 MLANA ERMP1 AK4P4 lnc-ERMP1-3 piR-43107-302 KIAA2026
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MLANA on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MLANA

Top Transcription factor binding sites by QIAGEN in the MLANA gene promoter:
  • AP-4
  • AREB6
  • C/EBPbeta
  • Chx10
  • CUTL1
  • GATA-6
  • p53
  • POU2F1
  • POU2F1a
  • TGIF

Genomic Locations for MLANA Gene

Genomic Locations for MLANA Gene
chr9:5,890,889-5,910,606
(GRCh38/hg38)
Size:
19,718 bases
Orientation:
Plus strand
chr9:5,890,802-5,910,606
(GRCh37/hg19)
Size:
19,805 bases
Orientation:
Plus strand

Genomic View for MLANA Gene

Genes around MLANA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MLANA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MLANA Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MLANA Gene

Proteins for MLANA Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for MLANA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16655-MAR1_HUMAN
    Recommended name:
    Melanoma antigen recognized by T-cells 1
    Protein Accession:
    Q16655
    Secondary Accessions:
    • Q6ICU4

    Protein attributes for MLANA Gene

    Size:
    118 amino acids
    Molecular mass:
    13157 Da
    Quaternary structure:
    • Interacts with PMEL. Interacts with GPR143.

    Three dimensional structures from OCA and Proteopedia for MLANA Gene

neXtProt entry for MLANA Gene

Protein Expression for MLANA Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MLANA Gene

Other Protein References for MLANA Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for MLANA

No data available for DME Specific Peptides for MLANA Gene

Domains & Families for MLANA Gene

Gene Families for MLANA Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for MLANA Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MLANA Gene

GenScript: Design optimal peptide antigens:
  • Protein Melan-A (MAR1_HUMAN)
  • cDNA, FLJ92434, Homo sapiens melan-A (MLANA), mRNA (Q6ICU4_HUMAN)
genes like me logo Genes that share domains with MLANA: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MLANA Gene

Function for MLANA Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for MLANA Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for MLANA Gene

Gene Ontology (GO) - Molecular Function for MLANA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15695812
genes like me logo Genes that share ontologies with MLANA: view
genes like me logo Genes that share phenotypes with MLANA: view

Animal Models for MLANA Gene

MGI Knock Outs for MLANA:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MLANA Gene

Localization for MLANA Gene

Subcellular locations from UniProtKB/Swiss-Prot for MLANA Gene

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MLANA gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 4
extracellular 3
cytoskeleton 3
nucleus 3
cytosol 3
mitochondrion 2
endosome 2
lysosome 2
peroxisome 0

Gene Ontology (GO) - Cellular Components for MLANA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IBA,IDA 15695812
GO:0005794 Golgi apparatus IDA,IEA 12191019
GO:0005802 trans-Golgi network IBA,IDA 12191019
GO:0005887 integral component of plasma membrane TAS 8170938
genes like me logo Genes that share ontologies with MLANA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MLANA Gene

Pathways & Interactions for MLANA Gene

PathCards logo

SuperPathways for MLANA Gene

SuperPathway Contained pathways
1 NF-kappaB Signaling
NF-kappaB Signaling
-
genes like me logo Genes that share pathways with MLANA: view

Pathways by source for MLANA Gene

1 Cell Signaling Technology pathway for MLANA Gene

SIGNOR curated interactions for MLANA Gene

Is activated by:

Gene Ontology (GO) - Biological Process for MLANA Gene

None

Drugs & Compounds for MLANA Gene

Products:

  1. Drug

(4) Additional Compounds for MLANA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MLANA: view

Transcripts for MLANA Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for MLANA Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MLANA Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c
SP1: - - -
SP2: -
SP3: - -
SP4: - -
SP5:

Relevant External Links for MLANA Gene

GeneLoc Exon Structure for
MLANA

Expression for MLANA Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MLANA Gene

mRNA expression in normal human tissues for MLANA Gene
mRNA expression by BioGPS for MLANA GenemRNA expression by GTEx for MLANA Gene

mRNA differential expression in normal tissues according to GTEx for MLANA Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x18.9) and Skin - Sun Exposed (Lower leg) (x16.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MLANA Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MLANA

SOURCE GeneReport for Unigene cluster for MLANA Gene:

Hs.154069

mRNA Expression by UniProt/SwissProt for MLANA Gene:

Q16655-MAR1_HUMAN
Tissue specificity: Expression is restricted to melanoma and melanocyte cell lines and retina.

Evidence on tissue expression from TISSUES for MLANA Gene

  • Skin(4.9)
  • Nervous system(4.2)
  • Lymph node(2.5)
  • Muscle(2.4)
  • Blood(2.3)
  • Adrenal gland(2.2)
  • Eye(2.2)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with MLANA: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MLANA Gene

Orthologs for MLANA Gene

This gene was present in the common ancestor of chordates.

Orthologs for MLANA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia MLANA 31 30
  • 100 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia MLANA 31 30
  • 85.31 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia MLANA 31 30
  • 83.62 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Mlana 30
  • 78.74 (n)
mouse
(Mus musculus)
 Mammalia Mlana 17 31 30
  • 77.58 (n)
oppossum
(Monodelphis domestica)
 Mammalia MLANA 31
  • 60 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves MLANA 31 30
  • 60.71 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia MLANA 31
  • 46 (a)
 OneToOne
Species where no ortholog for MLANA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for MLANA Gene

ENSEMBL:
Gene Tree for MLANA (if available)
TreeFam:
Gene Tree for MLANA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MLANA: view image

Paralogs for MLANA Gene

No data available for Paralogs for MLANA Gene

Variants for MLANA Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Additional dbSNP identifiers (rs#s) for MLANA Gene

Structural Variations from Database of Genomic Variants (DGV) for MLANA Gene

Variant ID Type Subtype PubMed ID
nsv1029665 CNV gain 25217958
nsv1033546 CNV loss 25217958
nsv6464 CNV insertion 18451855

Variation tolerance for MLANA Gene

Residual Variation Intolerance Score: 66.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.73; 15.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MLANA Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MLANA

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MLANA Gene

Disorders for MLANA Gene

MalaCards: The human disease database

(131) MalaCards diseases for MLANA Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
angiomyolipoma
  • angiomyolipoma of kidney
perivascular epithelioid cell tumor
  • neoplasm with perivascular epithelioid cell differentiation
granular cell tumor
  • neoplasm of granular cell
melanoma in congenital melanocytic nevus
  • malignant melanoma in congenital melanocytic nevus
melanoma
  • malignant melanoma
- elite association - COSMIC cancer census association via MalaCards
Search MLANA in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MLANA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MLANA: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MLANA Gene

Publications for MLANA Gene

  1. The melanocytic protein Melan-A/MART-1 has a subcellular localization distinct from typical melanosomal proteins. (PMID: 12191019) De Mazière AM … Rimoldi D (Traffic (Copenhagen, Denmark) 2002) 2 3 4 54
  2. Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. (PMID: 22190364) Patsopoulos NA … de Bakker PI (Annals of neurology 2011) 3 41 54
  3. Structural basis for the presentation of tumor-associated MHC class II-restricted phosphopeptides to CD4+ T cells. (PMID: 20417641) Li Y … Mariuzza RA (Journal of molecular biology 2010) 3 4 54
  4. Pigmentation-related genes and their implication in malignant melanoma susceptibility. (PMID: 19320733) Fernandez LP … Ribas G (Experimental dermatology 2009) 3 41 54
  5. 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. (PMID: 19717472) Giordano F … Raposo G (Human molecular genetics 2009) 3 4 54

ExternalLinks

View latest publications for MLANA gene in Mastermind

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