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DDX56 DEAD-box helicase 56 [ Homo sapiens (human) ]

Gene ID: 54606, updated on 7-Jun-2020

Summary

Official Symbol
DDX56provided by HGNC
Official Full Name
DEAD-box helicase 56provided by HGNC
Primary source
HGNC:HGNC:18193
See related
Ensembl:ENSG00000136271 MIM:608023
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
DDX21; DDX26; NOH61
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 shows ATPase activity in the presence of polynucleotides and associates with nucleoplasmic 65S preribosomal particles. This gene may be involved in ribosome synthesis, most likely during assembly of the large 60S ribosomal subunit. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]
Expression
Ubiquitous expression in thyroid (RPKM 15.8), lymph node (RPKM 15.1) and 25 other tissues See more
Orthologs

Genomic context

See DDX56 in Genome Data Viewer
Location:
7p13
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (44565417..44574538, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (44605016..44614542, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ribosomal protein L36a pseudogene 27 Neighboring gene NPC1 like intracellular cholesterol transporter 1 Neighboring gene transmembrane p24 trafficking protein 4 Neighboring gene oxoglutarate dehydrogenase Neighboring gene OGDH intron CAGE-defined high expression enhancer

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?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Rev rev DDX56 interacts with HIV-1 Rev and enhances the Rev function. DDX56 alters the subcellular localization of Rev from nucleolus to nucleus and co-localizes with Rev in the nucleus PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: TMED4

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
RNA binding HDA PubMed 
Process Evidence Code Pubs
positive regulation of neuron projection development IEA
Inferred from Electronic Annotation
more info
 
rRNA processing IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
membrane HDA PubMed 
nucleolus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
probable ATP-dependent RNA helicase DDX56
Names
61-kd nucleolar helicase
ATP-dependent 61 kDa nucleolar RNA helicase
DEAD (Asp-Glu-Ala-Asp) box helicase 56
DEAD (Asp-Glu-Ala-Asp) box polypeptide 56
DEAD box protein 21
DEAD box protein 56
DEAD-box RNA helicase
nucleolar helicase of 61 kDa
putative nucleolar RNA helicase
NP_001244118.1
NP_061955.1

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_001257189.1NP_001244118.1  probable ATP-dependent RNA helicase DDX56 isoform 2

    See identical proteins and their annotated locations for NP_001244118.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.
    Source sequence(s)
    AC004938, AK315363, CA423604
    Consensus CDS
    CCDS59053.1
    UniProtKB/Swiss-Prot
    Q9NY93
    Related
    ENSP00000393488.1, ENST00000431640.5
    Conserved Domains (3) summary
    COG0513
    Location:9473
    SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
    cd00079
    Location:234348
    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 ...
    cl21455
    Location:9219
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  2. NM_019082.3NP_061955.1  probable ATP-dependent RNA helicase DDX56 isoform 1

    See identical proteins and their annotated locations for NP_061955.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform 1).
    Source sequence(s)
    AK125595, BC001235, BM787430, CA423604
    Consensus CDS
    CCDS5492.1
    UniProtKB/Swiss-Prot
    Q9NY93
    Related
    ENSP00000258772.5, ENST00000258772.9
    Conserved Domains (3) summary
    COG0513
    Location:9513
    SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
    pfam00271
    Location:257380
    Helicase_C; Helicase conserved C-terminal domain
    cl21455
    Location:9219
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    44565417..44574538 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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