Human Gene MLANA (ENST00000381477.8_4) from GENCODE V47lift37
  Description: melan-A (from RefSeq NM_005511.2)
Gencode Transcript: ENST00000381477.8_4
Gencode Gene: ENSG00000120215.10_7
Transcript (Including UTRs)
   Position: hg19 chr9:5,890,889-5,910,606 Size: 19,718 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr9:5,892,475-5,908,708 Size: 16,234 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:5,890,889-5,910,606)mRNA (may differ from genome)Protein (118 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MAR1_HUMAN
DESCRIPTION: RecName: Full=Melanoma antigen recognized by T-cells 1; Short=MART-1; AltName: Full=Antigen LB39-AA; AltName: Full=Antigen SK29-AA; AltName: Full=Protein Melan-A;
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.
SUBUNIT: Interacts with PMEL. Interacts with GPR143.
SUBCELLULAR LOCATION: 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.
TISSUE SPECIFICITY: Expression is restricted to melanoma and melanocyte cell lines and retina.
PTM: Acylated.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MLANA
Diseases sorted by gene-association score: melanoma (15), microphthalmia (5), uveal melanoma (4), lentigo maligna melanoma (3), balloon cell malignant melanoma (3), halo nevi (3), gallbladder melanoma (3), malignant peripheral nerve sheath tumor (3), tuberous sclerosis (3), epithelioid cell melanoma (3), malignant anus melanoma (2), diffuse meningeal melanocytosis (2), ovarian melanoma (2), melanoacanthoma (2), pigmented basal cell carcinoma (2), cell type cancer (2), melanotic neurilemmoma (2), infiltrating angiolipoma (2), large cell acanthoma (2), juvenile type testicular granulosa cell tumor (2), vulvar melanoma (2), testicular granulosa cell tumor (2), integumentary system cancer (2), meningeal melanocytoma (2), central nervous system melanocytic neoplasm (1), conjunctival nevus (1), breast angiosarcoma (1), nervous system benign neoplasm (1), infiltrative basal cell carcinoma (1), nasal cavity squamous cell carcinoma (1), small cell sarcoma (1), brain sarcoma (1), myxosarcoma (1), ovarian cystic teratoma (1), spindle cell liposarcoma (1), malignant skin fibrous histiocytoma (1), malignant dermis tumor (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.36 RPKM in Skin - Not Sun Exposed (Suprapubic)
Total median expression: 12.48 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -13.6073-0.186 Picture PostScript Text
3' UTR -464.301898-0.245 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF14991 - Protein melan-A

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2GT9 - X-ray MuPIT 2GTW - X-ray MuPIT 2GTZ - X-ray MuPIT 2GUO - X-ray MuPIT 3L6F - X-ray MuPIT 3MRO - X-ray MuPIT 3MRP - X-ray MuPIT 3MRQ - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q16655
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005802 trans-Golgi network
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0042470 melanosome


-  Descriptions from all associated GenBank mRNAs
  U06654 - Human differentiation antigen melan-A protein mRNA, complete cds.
BC014423 - Homo sapiens melan-A, mRNA (cDNA clone MGC:20165 IMAGE:4639927), complete cds.
GQ900930 - Homo sapiens clone HEL-T-42 epididymis secretory sperm binding protein mRNA, complete cds.
GQ900964 - Homo sapiens clone HEL-T-76 epididymis secretory sperm binding protein mRNA, complete cds.
AK312149 - Homo sapiens cDNA, FLJ92434, Homo sapiens melan-A (MLANA), mRNA.
U06452 - Human melanoma antigen recognized by T-cells (MART-1) mRNA.
KJ891185 - Synthetic construct Homo sapiens clone ccsbBroadEn_00579 MLANA gene, encodes complete protein.
CR450299 - Homo sapiens full open reading frame cDNA clone RZPDo834C111D for gene MLANA, melan-A; complete cds; without stopcodon.
DQ892257 - Synthetic construct clone IMAGE:100004887; FLH184640.01X; RZPDo839A04146D melan-A (MLANA) gene, encodes complete protein.
DQ895459 - Synthetic construct Homo sapiens clone IMAGE:100009919; FLH184636.01L; RZPDo839A04145D melan-A (MLANA) gene, encodes complete protein.
JD023710 - Sequence 4734 from Patent EP1572962.
JD031481 - Sequence 12505 from Patent EP1572962.
JD346228 - Sequence 327252 from Patent EP1572962.
JD201365 - Sequence 182389 from Patent EP1572962.
JD558603 - Sequence 539627 from Patent EP1572962.
JD176158 - Sequence 157182 from Patent EP1572962.
JD542630 - Sequence 523654 from Patent EP1572962.
JD212543 - Sequence 193567 from Patent EP1572962.
JD345672 - Sequence 326696 from Patent EP1572962.
JD225356 - Sequence 206380 from Patent EP1572962.
JD230784 - Sequence 211808 from Patent EP1572962.
JD362061 - Sequence 343085 from Patent EP1572962.
JD089844 - Sequence 70868 from Patent EP1572962.
JD095978 - Sequence 77002 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000381477.1, ENST00000381477.2, ENST00000381477.3, ENST00000381477.4, ENST00000381477.5, ENST00000381477.6, ENST00000381477.7, MAR1_HUMAN, MART1, NM_005511, Q16655, Q6ICU4, uc318qgz.1, uc318qgz.2
UCSC ID: ENST00000381477.8_4
RefSeq Accession: NM_005511.2
Protein: Q16655 (aka MAR1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.