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TARDBP TAR DNA binding protein [ Homo sapiens (human) ]

Gene ID: 23435, updated on 17-Apr-2014
Official Symbol
TARDBPprovided by HGNC
Official Full Name
TAR DNA binding proteinprovided by HGNC
Primary source
HGNC:11571
Locus tag
RP4-635E18.2
See related
HPRD:05466; MIM:605078
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ALS10; TDP-43
Summary
HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. The protein encoded by this gene is a transcriptional repressor that binds to chromosomally integrated TAR DNA and represses HIV-1 transcription. In addition, this protein regulates alternate splicing of the CFTR gene. A similar pseudogene is present on chromosome 20. [provided by RefSeq, Jul 2008]
Location :
1p36.22
Sequence :
Chromosome: 1; NC_000001.11 (11012622..11025492)
See TARDBP in Epigenomics, MapViewer

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene chromosome 1 open reading frame 127 Neighboring gene cofilin 1 (non-muscle) pseudogene 6 Neighboring gene mannan-binding lectin serine peptidase 2 Neighboring gene spermidine synthase

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma.
NHGRI GWA Catalog
Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Tat, p14 tat TDP-43 is a cellular protein that binds specifically to pyrimidine-rich motifs in HIV-1 double-stranded TAR DNA and represses transcription from the HIV-1 LTR promoter in both the presence and absence of HIV-1 Tat PubMed

Go to the HIV-1, Human Protein Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
double-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
 
mRNA 3'-UTR binding IDA
Inferred from Direct Assay
more info
PubMed 
nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
poly(A) RNA binding IDA
Inferred from Direct Assay
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
 
sequence-specific DNA binding transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
3'-UTR-mediated mRNA stabilization IDA
Inferred from Direct Assay
more info
PubMed 
RNA splicing IDA
Inferred from Direct Assay
more info
PubMed 
cell death IEA
Inferred from Electronic Annotation
more info
 
mRNA processing IEA
Inferred from Electronic Annotation
more info
 
negative regulation by host of viral transcription IDA
Inferred from Direct Assay
more info
PubMed 
transcription from RNA polymerase II promoter TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
nucleus IDA
Inferred from Direct Assay
more info
 
Preferred Names
TAR DNA-binding protein 43
Names
TAR DNA-binding protein 43
TAR DNA-binding protein-43

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.

Genomic

  1. NG_008734.1 RefSeqGene

    Range
    5001..17871
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_659

mRNA and Protein(s)

  1. NM_007375.3NP_031401.1  TAR DNA-binding protein 43

    See proteins identical to NP_031401.1

    Status: REVIEWED

    Source sequence(s)
    AF311304, AL045296, AL050265, BC001487, BC059955, BI464234, BM716882, CD703666
    Consensus CDS
    CCDS122.1
    UniProtKB/Swiss-Prot
    Q13148
    UniProtKB/TrEMBL
    Q9H256
    Conserved Domains (2) summary
    cd12321
    Location:105181
    Blast Score: 443
    RRM1_TDP43; RNA recognition motif 1 in TAR DNA-binding protein 43 (TDP-43) and similar proteins
    cd12322
    Location:191261
    Blast Score: 381
    RRM2_TDP43; RNA recognition motif 2 in TAR DNA-binding protein 43 (TDP-43) and similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38 Primary Assembly

    Range
    11012622..11025492
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000133.1 Alternate HuRef

    Range
    10224341..10237229
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    11060321..11073209
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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