InnateDB Protein
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IDBP-48025.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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MLANA
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Protein Name
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melan-A
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Synonyms
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MART-1; MART1;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000370885
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InnateDB Gene
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IDBG-48021 (MLANA)
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Protein Structure
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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}.
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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.
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Disease Associations |
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Tissue Specificity |
Expression is restricted to melanoma and melanocyte cell lines and retina.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
6
[view]
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Protein-Protein |
6
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q16655
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PhosphoSite |
PhosphoSite-Q16655
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
2315
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UniGene |
Hs.154069
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RefSeq |
XP_006716805
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HUGO |
HGNC:7124
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OMIM |
605513
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CCDS |
CCDS6466
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HPRD |
09269
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IMGT |
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EMBL |
AK312149
AL365360
BC014423
CH471071
CR450299
U06452
U06654
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GenPept |
AAA19238
AAA20389
AAH14423
BAG35083
CAG29295
CAI95312
EAW58755
EAW58756
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