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Aliases for MLANA Gene

Aliases for MLANA Gene

  • Melan-A 2 3
  • MART1 3 4 6
  • Antigen LB39-AA 3 4
  • Antigen SK29-AA 3 4
  • Protein Melan-A 3 4
  • MART-1 3 4
  • Melanoma Antigen Recognized By T-Cells 1 3

External Ids for MLANA Gene

Summaries for MLANA Gene

GeneCards Summary for MLANA Gene

MLANA (Melan-A) is a Protein Coding gene. Diseases associated with MLANA include undifferentiated pleomorphic sarcoma and juvenile xanthogranuloma.

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

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MLANA Gene

Genomics for MLANA Gene

Genomic Location for MLANA Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MLANA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MLANA Gene

Regulatory Elements 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

Proteomics data for MLANA Gene at MOPED

Post-translational modifications for MLANA Gene

Other Protein References for MLANA Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MLANA Gene

Domains for MLANA Gene

Protein Domains for MLANA Gene

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

No data available for Gene Families and 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.

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

Phenotypes for MLANA Gene

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

Animal Models for MLANA Gene

MGI Knock Outs for MLANA:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for MLANA Gene COMPARTMENTS Subcellular localization image for MLANA gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
plasma membrane 4
cytoskeleton 3
cytosol 2
nucleus 2
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for MLANA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IDA 15695812
GO:0005794 Golgi apparatus IDA 12191019
GO:0005802 trans-Golgi network IDA 12191019
GO:0005887 integral component of plasma membrane TAS 8170938
GO:0042470 melanosome IDA 15695812
genes like me logo Genes that share ontologies with MLANA: view

Pathways 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 for MLANA Gene

Compounds for MLANA Gene

(4) Novoseek inferred chemical compound relationships for MLANA Gene

Compound -log(P) Hits PubMed IDs
paraffin 37.8 3
hematoxylin 29.1 2
steroid 0 1
lactate 0 1
genes like me logo Genes that share compounds with MLANA: view

Transcripts for MLANA Gene

mRNA/cDNA for MLANA Gene

Unigene Clusters for MLANA Gene

Melan-A:
Representative Sequences:

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 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) (18.9) and Skin - Sun Exposed (Lower leg) (16.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for MLANA Gene

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

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 36
  • 100 (n)
  • 100 (a)
MLANA 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MLANA 36
  • 83.62 (n)
  • 74.58 (a)
MLANA 37
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MLANA 36
  • 85.31 (n)
  • 77.97 (a)
MLANA 37
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mlana 36
  • 77.58 (n)
  • 71.68 (a)
Mlana 16
Mlana 37
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MLANA 37
  • 60 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mlana 36
  • 78.74 (n)
  • 72.41 (a)
chicken
(Gallus gallus)
Aves MLANA 36
  • 60.71 (n)
  • 51.79 (a)
MLANA 37
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MLANA 37
  • 46 (a)
OneToOne
Species with no ortholog for MLANA:
  • 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 MAF
rs12090 -- 5,909,725(+) TGTGT(A/T)CTGCC utr-variant-3-prime
rs1052994 -- 5,894,344(-) CCTGT(C/T)TAACC intron-variant
rs1056796 -- 5,909,152(+) ACAGG(G/T)TAAGA utr-variant-3-prime
rs1056798 -- 5,909,259(+) GATCC(C/T)ATAGC utr-variant-3-prime
rs1331380 -- 5,900,426(-) AACTG(A/G)CTTTT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv892155 CNV Gain 21882294
nsv6464 CNV Insertion 18451855
nsv892156 CNV Gain 21882294

Relevant External Links for MLANA Gene

HapMap Linkage Disequilibrium report
MLANA

Disorders for MLANA Gene

(26) Novoseek inferred disease relationships for MLANA Gene

Disease -log(P) Hits PubMed IDs
melanoma 86.5 142
metastatic melanoma 84.5 9
microphthalmia 71.5 13
stage iii melanoma 70.9 1
nevi melanocytic 70.6 6

Relevant External Links for MLANA

Genetic Association Database (GAD)
MLANA
Human Genome Epidemiology (HuGE) Navigator
MLANA
genes like me logo Genes that share disorders with MLANA: view

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

Publications for MLANA Gene

  1. Cloning of the gene coding for a shared human melanoma antigen recognized by autologous T cells infiltrating into tumor. (PMID: 8170938) Kawakami Y. … Rosenberg S.A. (Proc. Natl. Acad. Sci. U.S.A. 1994) 3 4 23
  2. Expression of Melan-A/MART-1 in primary melanoma cell cultures has prognostic implication in metastatic melanoma patients. (PMID: 15305155) Murer K. … Dummer R. (Melanoma Res. 2004) 3 23
  3. MLANA/MART1 and SILV/PMEL17/GP100 are transcriptionally regulated by MITF in melanocytes and melanoma. (PMID: 12819038) Du J. … Fisher D.E. (Am. J. Pathol. 2003) 3 23
  4. Differential expression of melanocytic markers in myoid, lipomatous, and vascular components of renal angiomyolipomas. (PMID: 17227112) Roma A.A. … Zhou M. (Arch. Pathol. Lab. Med. 2007) 3 23
  5. Comparison of immunohistochemical markers in the differential diagnosis of adrenocortical tumors: immunohistochemical analysis of adrenocortical tumors. (PMID: 18091323) Zhang H. … Zhang Z. (Appl. Immunohistochem. Mol. Morphol. 2008) 3 23

Products for MLANA Gene

Sources for MLANA Gene

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