Gene Gene information from NCBI Gene database.
Entrez ID 2315
Gene name Melan-A
Gene symbol MLANA
Synonyms (NCBI Gene)
MART-1MART1
Chromosome 9
Chromosome location 9p24.1
miRNA miRNA information provided by mirtarbase database.
304
miRTarBase ID miRNA Experiments Reference
MIRT445311 hsa-miR-4432 PAR-CLIP 22100165
MIRT445312 hsa-miR-8087 PAR-CLIP 22100165
MIRT445310 hsa-miR-562 PAR-CLIP 22100165
MIRT445309 hsa-miR-144-3p PAR-CLIP 22100165
MIRT445308 hsa-miR-4645-3p PAR-CLIP 22100165
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
MITF Unknown 12819038;14744763
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15695812, 19717472, 20491914, 32296183, 37219487
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IBA
GO:0005789 Component Endoplasmic reticulum membrane IDA 15695812
GO:0005789 Component Endoplasmic reticulum membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605513 7124 ENSG00000120215
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q16655
Protein name Melanoma antigen recognized by T-cells 1 (MART-1) (Antigen LB39-AA) (Antigen SK29-AA) (Protein Melan-A)
Protein 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. {ECO:0000
PDB 2GT9 , 2GTW , 2GTZ , 2GUO , 3HG1 , 3L6F , 3MRO , 3MRP , 3MRQ , 3QDM , 3QEQ , 3QFD , 4EUP , 4JFF , 4L3E , 4QOK , 4WJ5 , 5E9D , 5NHT , 5NQK , 6D78 , 6DKP , 6TMO , 7Q9B , 7TR4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14991 MLANA 2 118 Protein melan-A Family
Tissue specificity TISSUE SPECIFICITY: Expression is restricted to melanoma and melanocyte cell lines and retina.
Sequence
Sequence length 118
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Thyroid cancer, nonmedullary, 1 Uncertain significance rs140942317 RCV005939333
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenoma Associate 25120827
Adrenocortical Adenoma Associate 40490431
Angiomyolipoma Associate 11800647, 17227112, 26617918
Autoimmune Diseases Stimulate 28630054
Carcinoma Associate 24051699
Carcinoma Non Small Cell Lung Associate 30205833
Carcinoma Renal Cell Associate 22892601, 24618616, 26527083, 29713041, 35980471
Cysts Associate 26617918
Drug Related Side Effects and Adverse Reactions Associate 37075611
Epilepsy Associate 25896248