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    MLANA melan-A [ Homo sapiens (human) ]

    Gene ID: 2315, updated on 27-Nov-2024

    Summary

    Official Symbol
    MLANAprovided by HGNC
    Official Full Name
    melan-Aprovided by HGNC
    Primary source
    HGNC:HGNC:7124
    See related
    Ensembl:ENSG00000120215 MIM:605513; AllianceGenome:HGNC:7124
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MART1; MART-1
    Summary
    Located in endoplasmic reticulum membrane; melanosome; and trans-Golgi network. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in skin (RPKM 15.6) and colon (RPKM 0.2) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MLANA in Genome Data Viewer
    Location:
    9p24.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (5890889..5910606)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (5896039..5915758)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (5890889..5910606)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene endoplasmic reticulum metallopeptidase 1 Neighboring gene adenylate kinase 4 pseudogene 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:5879621-5880122 Neighboring gene small nucleolar RNA U13 Neighboring gene bromodomain containing 10 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:5909826-5911025 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19758 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28180 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19759 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:6007511-6008012 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:6008013-6008512 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28181 Neighboring gene microRNA 4665 Neighboring gene RAN binding protein 6

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of melan-A (MLANA) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in melanosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in melanosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in melanosome membrane TAS
    Traceable Author Statement
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in trans-Golgi network IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    melanoma antigen recognized by T-cells 1
    Names
    antigen LB39-AA
    antigen SK29-AA
    epididymis secretory sperm binding protein
    protein Melan-A

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_005511.2NP_005502.1  melanoma antigen recognized by T-cells 1

      See identical proteins and their annotated locations for NP_005502.1

      Status: VALIDATED

      Source sequence(s)
      AL365360, U06452
      Consensus CDS
      CCDS6466.1
      UniProtKB/Swiss-Prot
      Q16655, Q6ICU4
      UniProtKB/TrEMBL
      A0A384MR46
      Related
      ENSP00000370886.3, ENST00000381477.8
      Conserved Domains (1) summary
      pfam14991
      Location:2118
      MLANA; Protein melan-A

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      5890889..5910606
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      5896039..5915758
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)