Homo sapiens Protein: MLANA
Summary
InnateDB Protein IDBP-48023.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MLANA
Protein Name melan-A
Synonyms MART-1; MART1;
Species Homo sapiens
Ensembl Protein ENSP00000370886
InnateDB Gene IDBG-48021 (MLANA)
Protein Structure
UniProt Annotation
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:0000269PubMed:15695812, ECO:0000269PubMed:19717472}.
Subcellular Localization 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.
Disease Associations
Tissue Specificity Expression is restricted to melanoma and melanocyte cell lines and retina.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
Cellular Component
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005802 trans-Golgi network
GO:0005887 integral component of plasma membrane
GO:0042470 melanosome
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q16655
PhosphoSite PhosphoSite-Q16655
TrEMBL
UniProt Splice Variant
Entrez Gene 2315
UniGene Hs.154069
RefSeq NP_005502
HUGO HGNC:7124
OMIM 605513
CCDS CCDS6466
HPRD 09269
IMGT
EMBL AK312149 AL365360 BC014423 CH471071 CR450299 U06452 U06654
GenPept AAA19238 AAA20389 AAH14423 BAG35083 CAG29295 CAI95312 EAW58755 EAW58756