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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CONTACT DERMATITIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DERMATITIS, CONTACT CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MELANOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Actinic keratosis Actinic keratosis LHGDN 18494818
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 11277411, 27865795, 29432785
★☆☆☆☆
Found in Text Mining only
Alveolar Soft Part Sarcoma Alveolar Sarcoma BEFREE 28009610
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 29899062
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 28630054 Stimulate
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 8671669
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 18697715
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 22820661
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma Pubtator 24051699 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 22892601, 24618616, 26527083, 29713041, 35980471 Associate
★☆☆☆☆
Found in Text Mining only