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Aliases for MLANA Gene

Aliases for MLANA Gene

  • Melan-A 2 3 5
  • Antigen LB39-AA 3 4
  • Antigen SK29-AA 3 4
  • Protein Melan-A 3 4
  • MART-1 3 4
  • MART1 3 4
  • Melanoma Antigen Recognized By T-Cells 1 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 Melanoma and Microphthalmia.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for MLANA Gene

Genomics for MLANA Gene

Regulatory Elements for MLANA Gene

Enhancers for MLANA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H005850 1.6 FANTOM5 Ensembl ENCODE dbSUPER 12.5 -38.5 -38513 3 HDGF PKNOX1 RAD21 BATF ELK1 FOS ATF7 RUNX3 CREM IKZF2 MLANA CD274 ERMP1 RIC1 PLGRKT AK4P4 GC09M005843
GH09H005817 1.1 ENCODE dbSUPER 11.5 -72.7 -72739 1 PKNOX1 RCOR1 FOS ATF7 USF2 CEBPB ZEB2 ZNF217 MAFF SMARCA4 MLANA ERMP1 PIR31344
GH09H005828 1.1 ENCODE dbSUPER 11.2 -62.2 -62227 0 ELF3 SOX13 FOXA2 SAP130 ARID4B THRB RARA LCORL CREM HOMEZ MLANA ERMP1 PIR31344
GH09H005892 1.3 FANTOM5 ENCODE 9 +3.2 3178 2 PKNOX1 FOXA2 ARID4B YY1 FOS REST MIER2 PPARG KAT8 NFIL3 ERMP1 MLANA GC09P005918
GH09H005799 0.9 Ensembl ENCODE 11.8 -91.3 -91276 0 CTCF ZNF654 TRIM22 REST ZBTB40 RAD21 RFX5 YY1 CC2D1A ZNF316 ERMP1 MLANA PIR31344
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MLANA on UCSC Golden Path with GeneCards custom track

Genomic Location for MLANA Gene

Chromosome:
9
Start:
5,890,802 bp from pter
End:
5,910,606 bp from pter
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 StructureGene Density

RefSeq DNA sequence for MLANA Gene

Proteins for MLANA Gene

  • 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

Post-translational modifications for MLANA Gene

Other Protein References for MLANA Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for MLANA (Melan-A/MART-1)

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

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MLANA: view

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

Function for MLANA Gene

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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MLANA
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
plasma membrane 5
endoplasmic reticulum 5
golgi apparatus 5
extracellular 3
cytoskeleton 3
nucleus 2
cytosol 2
mitochondrion 1
peroxisome 1
lysosome 1

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 IEA,IDA 15695812
GO:0005794 Golgi apparatus IDA,IEA 12191019
GO:0005802 trans-Golgi network 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

SuperPathways for MLANA Gene

No Data Available

Gene Ontology (GO) - Biological Process for MLANA Gene

None

No data available for Pathways by source and SIGNOR curated interactions for MLANA Gene

Drugs & Compounds for MLANA Gene

(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

Unigene Clusters for MLANA Gene

Melan-A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MLANA
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
ECgene alternative splicing isoforms for
MLANA

Expression for MLANA Gene

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



NURSA nuclear receptor signaling pathways regulating expression of MLANA Gene:

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(2.1)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with MLANA: view

Primer Products

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 33 34
  • 100 (n)
dog
(Canis familiaris)
Mammalia MLANA 33 34
  • 85.31 (n)
cow
(Bos Taurus)
Mammalia MLANA 33 34
  • 83.62 (n)
rat
(Rattus norvegicus)
Mammalia Mlana 33
  • 78.74 (n)
mouse
(Mus musculus)
Mammalia Mlana 33 16 34
  • 77.58 (n)
oppossum
(Monodelphis domestica)
Mammalia MLANA 34
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves MLANA 33 34
  • 60.71 (n)
lizard
(Anolis carolinensis)
Reptilia MLANA 34
  • 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)

Paralogs for MLANA Gene

No data available for Paralogs for MLANA Gene

Variants for MLANA Gene

Sequence variations from dbSNP and Humsavar for MLANA Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1000054310 -- 5,899,100(+) ACCCG(A/G)AGGCA intron-variant, utr-variant-3-prime
rs1000070152 -- 5,899,702(+) CTTGT(A/G)ATTGG intron-variant
rs1000116506 -- 5,893,641(+) GTTAG(C/G)GTATC intron-variant
rs1000121993 -- 5,908,139(+) CTCTC(G/T)GTGCC intron-variant
rs1000162093 -- 5,892,027(+) TAACT(C/T)TGGAG intron-variant, nc-transcript-variant, utr-variant-3-prime

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)

Relevant External Links for MLANA Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MLANA Gene

Disorders for MLANA Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
melanoma
  • malignant melanoma
microphthalmia
  • microphthalmos
uveal melanoma
  • melanoma of uvea
lentigo maligna melanoma
  • hutchison melanotic freckle
balloon cell malignant melanoma
- elite association - COSMIC cancer census association via MalaCards
Search MLANA in MalaCards View complete list of genes associated with diseases

Relevant External Links for MLANA

Genetic Association Database (GAD)
MLANA
Human Genome Epidemiology (HuGE) Navigator
MLANA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MLANA
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 60
  2. Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. (PMID: 22190364) Patsopoulos NA … de Bakker PI (Annals of neurology 2011) 3 45 60
  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 60
  4. 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 60
  5. Pigmentation-related genes and their implication in malignant melanoma susceptibility. (PMID: 19320733) Fernandez LP … Ribas G (Experimental dermatology 2009) 3 45 60

Products for MLANA Gene

Sources for MLANA Gene

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