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MALAT1 metastasis associated lung adenocarcinoma transcript 1 [ Homo sapiens (human) ]

Gene ID: 378938, updated on 21-May-2019

Summary

Official Symbol
MALAT1provided by HGNC
Official Full Name
metastasis associated lung adenocarcinoma transcript 1provided by HGNC
Primary source
HGNC:HGNC:29665
See related
Ensembl:ENSG00000251562 MIM:607924
Gene type
ncRNA
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HCN; NEAT2; PRO2853; LINC00047; NCRNA00047
Summary
This gene produces a precursor transcript from which a long non-coding RNA is derived by RNase P cleavage of a tRNA-like small ncRNA (known as mascRNA) from its 3' end. The resultant mature transcript lacks a canonical poly(A) tail but is instead stabilized by a 3' triple helical structure. This transcript is retained in the nucleus where it is thought to form molecular scaffolds for ribonucleoprotein complexes. It may act as a transcriptional regulator for numerous genes, including some genes involved in cancer metastasis and cell migration, and it is involved in cell cycle regulation. Its upregulation in multiple cancerous tissues has been associated with the proliferation and metastasis of tumor cells. [provided by RefSeq, Mar 2015]
Expression
Ubiquitous expression in bone marrow (RPKM 137.2), thyroid (RPKM 115.3) and 24 other tissues See more
Orthologs

Genomic context

See MALAT1 in Genome Data Viewer
Location:
11q13.1
Exon count:
2
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (65497738..65506516)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65265224..65273940)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs1759 Neighboring gene long intergenic non-protein coding RNA 2736 Neighboring gene ZFP161 motif-containing MPRA enhancer 21/22 Neighboring gene MALAT1 antisense transcript Neighboring gene MALAT1-associated small cytoplasmic RNA Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 19 Neighboring gene SCY1 like pseudokinase 1 Neighboring gene latent transforming growth factor beta binding protein 3

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 association study identifies three novel susceptibility loci for severe Acne vulgaris.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Other Names

  • hepcarcin
  • long intergenic non-protein coding RNA 47
  • metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)
  • nuclear enriched abundant transcript 2
  • nuclear paraspeckle assembly transcript 2 (non-protein coding)

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cellular response to hypoxia IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cardiac muscle myoblast proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell motility IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

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.

RNA

  1. NR_002819.4 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the unspliced, longest transcript.
    Source sequence(s)
    AI805768, CA394984, EF177381
    Related
    ENST00000534336.1
  2. NR_144567.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as long) lacks an alternate segment in the 5' region compared to variant 1.
    Source sequence(s)
    AI805768, BK001418, CA394984, EF177381
  3. NR_144568.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3, also known as short) lacks two alternate segments compared to variant 1.
    Source sequence(s)
    AI805768, BK001411, CA394984, EF177381

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_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    65497738..65506516
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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