Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2315
Gene name Gene Name - the full gene name approved by the HGNC.
Melan-A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MLANA
Synonyms (NCBI Gene) Gene synonyms aliases
MART-1, MART1
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p24.1
miRNA miRNA information provided by mirtarbase database.
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 factor Regulation Reference
MITF Unknown 12819038;14744763
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605513 7124 ENSG00000120215
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Multiple Sclerosis Multiple sclerosis N/A N/A GWAS
Associations from Text Mining Disease 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