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MLANA melan-A [ Homo sapiens (human) ]

Gene ID: 2315, updated on 8-Dec-2018

Summary

Official Symbol
MLANAprovided by HGNC
Official Full Name
melan-Aprovided by HGNC
Primary source
HGNC:HGNC:7124
See related
Ensembl:ENSG00000120215 MIM:605513
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
Expression
Biased expression in skin (RPKM 15.6) and colon (RPKM 0.2) See more
Orthologs

Genomic context

See MLANA in Genome Data Viewer
Location:
9p24.1
Exon count:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (5890909..5909822)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (5890895..5909822)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene endoplasmic reticulum metallopeptidase 1 Neighboring gene Sharpr-MPRA regulatory region 2314 Neighboring gene KIAA2026 Neighboring gene adenylate kinase 4 pseudogene 4 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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci.
NHGRI GWA 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

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_005511.1NP_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)
    U06452
    Consensus CDS
    CCDS6466.1
    UniProtKB/Swiss-Prot
    Q16655
    Related
    ENSP00000370886.3, ENST00000381477.7
    Conserved Domains (1) summary
    pfam14991
    Location:2118
    MLANA; Protein melan-A

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    5890909..5909822
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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