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DDX47 DEAD-box helicase 47 [ Homo sapiens (human) ]

Gene ID: 51202, updated on 17-Sep-2024

Summary

Official Symbol
DDX47provided by HGNC
Official Full Name
DEAD-box helicase 47provided by HGNC
Primary source
HGNC:HGNC:18682
See related
Ensembl:ENSG00000213782 MIM:615428; AllianceGenome:HGNC:18682
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
RRP3; E4-DBP; HQ0256; MSTP162
Summary
This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene can shuttle between the nucleus and the cytoplasm, and has an RNA-independent ATPase activity. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in thyroid (RPKM 25.1), lymph node (RPKM 21.1) and 25 other tissues See more
Orthologs
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Genomic context

See DDX47 in Genome Data Viewer
Location:
12p13.1
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (12813346..12829981)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (12686924..12703560)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (12966280..12982915)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene apolipoprotein L domain containing 1 Neighboring gene microRNA 613 Neighboring gene syntaxin 8 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4267 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4268 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:12955832-12956332 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:12956863-12958062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6031 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:12975829-12977028 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:12987821-12989020 Neighboring gene ribosomal protein L37a pseudogene 9 Neighboring gene ribosomal protein S6 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Rev rev HIV-1 Rev interacting protein, DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 (DDX47), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with DDX47 is increased by RRE 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

Potential readthrough

Included gene: APOLD1

Clone Names

  • FLJ30012, DKFZp564O176

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
 
enables RNA binding HDA PubMed 
enables RNA helicase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in RNA splicing IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in extrinsic apoptotic signaling pathway via death domain receptors IDA
Inferred from Direct Assay
more info
PubMed 
involved_in mRNA processing IEA
Inferred from Electronic Annotation
more info
 
involved_in rRNA processing IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in rRNA processing IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in membrane HDA PubMed 
located_in nucleolus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
probable ATP-dependent RNA helicase DDX47
Names
DEAD (Asp-Glu-Ala-Asp) box polypeptide 47
DEAD box polypeptide 47
DEAD box protein 47
E4-DEAD box protein
NP_057439.2
NP_957518.1

NCBI Reference Sequences (RefSeq)

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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_016355.4NP_057439.2  probable ATP-dependent RNA helicase DDX47 isoform 1

    See identical proteins and their annotated locations for NP_057439.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AL136666, BC009379
    Consensus CDS
    CCDS8655.1
    UniProtKB/Swiss-Prot
    B3KXP4, G5E955, Q96GM0, Q96NV8, Q9H0S4, Q9UI98
    UniProtKB/TrEMBL
    Q9H4E3
    Related
    ENSP00000350698.3, ENST00000358007.7
    Conserved Domains (3) summary
    PRK11192
    Location:24446
    PRK11192; ATP-dependent RNA helicase SrmB; Provisional
    cd00079
    Location:237366
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    cd00268
    Location:26227
    DEADc; DEAD-box helicases. A diverse family of proteins involved in ATP-dependent RNA unwinding, needed in a variety of cellular processes including splicing, ribosome biogenesis and RNA degradation. The name derives from the sequence of the Walker B motif ...
  2. NM_201224.2NP_957518.1  probable ATP-dependent RNA helicase DDX47 isoform 2

    See identical proteins and their annotated locations for NP_957518.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, as compared to variant 1. The encoded isoform (2) is thus missing an internal segment, as compared to isoform 1.
    Source sequence(s)
    AF078843, AL136666, BC009379
    Consensus CDS
    CCDS8656.1
    UniProtKB/TrEMBL
    Q9H4E3
    Related
    ENSP00000319578.6, ENST00000352940.8
    Conserved Domains (3) summary
    PRK11192
    Location:24397
    PRK11192; ATP-dependent RNA helicase SrmB; Provisional
    cd00079
    Location:184317
    HELICc; Helicase superfamily c-terminal domain; associated with DEXDc-, DEAD-, and DEAH-box proteins, yeast initiation factor 4A, Ski2p, and Hepatitis C virus NS3 helicases; this domain is found in a wide variety of helicases and helicase related proteins; may ...
    cd00268
    Location:26227
    DEADc; DEAD-box helicases. A diverse family of proteins involved in ATP-dependent RNA unwinding, needed in a variety of cellular processes including splicing, ribosome biogenesis and RNA degradation. The name derives from the sequence of the Walker B motif ...

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    12813346..12829981
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    12686924..12703560
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)