DDX27 DEAD-box helicase 27 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DDX27provided by HGNC
Official Full Name: DEAD-box helicase 27provided by HGNC
Primary source: HGNC:HGNC:15837
See related: Ensembl:ENSG00000124228 MIM:616621; AllianceGenome:HGNC:15837
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: DRS1; RHLP; Drs1p; PP3241; HSPC259; dJ686N3.1
Summary: 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. This gene encodes a DEAD box protein involved in the processing of 5.8S and 28S ribosomal RNAs. More specifically, the encoded protein localizes to the nucleolus, where it interacts with the PeBoW complex to ensure proper 3' end formation of 47S rRNA. [provided by RefSeq, Jan 2017]
Expression: Ubiquitous expression in testis (RPKM 18.7), lymph node (RPKM 16.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.13

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (49219416..49244073)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (50988932..51013575)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (47835953..47860610)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DDX27 regulates oral squamous cell carcinoma development through targeting CSE1L.
Title: DDX27 regulates oral squamous cell carcinoma development through targeting CSE1L.
DEAD-box Helicase 27 Promotes Hepatocellular Carcinoma Progression Through ERK Signaling.
Title: DEAD-box Helicase 27 Promotes Hepatocellular Carcinoma Progression Through ERK Signaling.
DEAD-box helicase 27 enhances stem cell-like properties with poor prognosis in breast cancer.
Title: DEAD-box helicase 27 enhances stem cell-like properties with poor prognosis in breast cancer.
Data found that DDX27 expression is significantly up-regulated in colorectal cancer (CRC) at mRNA and protein levels. DDX27 mRNA overexpression was positively correlated with DNA copy number gain and associated with poor prognosis in CRC patients. Further evidences prove that DDX27 plays a pivotal oncogenic role in CRC.
Title: DEAD-box helicase 27 promotes colorectal cancer growth and metastasis and predicts poor survival in CRC patients.
The DDX27 can interact specifically with the Pes1 and Bop1 but fulfils critical function(s) for proper 3' end formation of 47S rRNA independently of the PeBoW-complex.
Title: DEAD-box helicase DDX27 regulates 3' end formation of ribosomal 47S RNA and stably associates with the PeBoW-complex.
Levels of DDX27 mRNA and protein were increased in early-stage gastric tumors, and may be a potential diagnostic and prognostic marker for Gastric cancer.
Title: An integrative approach identified genes associated with drug response in gastric cancer.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Tandem affinity purification and mass spectrometry analysis identify DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Gag-Pol	gag-pol	Tandem affinity purification and mass spectrometry analysis identify DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Nef	nef	Tandem affinity purification and mass spectrometry analysis identify DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Pr55(Gag)	gag	Tandem affinity purification and mass spectrometry analysis identify DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:434012 (e-PCR)
- UniSTS:157204

G66598 (e-PCR)
- UniSTS:230436

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

D11S3114 (e-PCR)
- UniSTS:152207

WI-13369 (e-PCR)
- UniSTS:62667

Clone Names

MGC1018, FLJ12917, FLJ20596, FLJ22238, MGC163147, DKFZp667N057

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 ATP-dependent H2AZ histone chaperone activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent H3-H4 histone complex chaperone activity	IEA Inferred from Electronic Annotation more info
enables DNA clamp loader activity	IEA Inferred from Electronic Annotation more info
enables RNA binding	HDA more info	PubMed
enables RNA helicase activity	IEA Inferred from Electronic Annotation more info
enables chromatin extrusion motor activity	IEA Inferred from Electronic Annotation more info
enables cohesin loader 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 chromatin looping	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in rRNA processing	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in chromosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleolus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: probable ATP-dependent RNA helicase DDX27

Names: DEAD (Asp-Glu-Ala-Asp) box polypeptide 27; DEAD box protein 27; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27; Deficiency of ribosomal subunits protein 1 homolog; RNA helicase-like protein

NP_001335116.2

EC 3.6.4.13

NP_060365.8

EC 3.6.4.13

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)

NM_001348187.2 → NP_001335116.2 probable ATP-dependent RNA helicase DDX27 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AL049766, AL357560

UniProtKB/TrEMBL

B3GQE6

Conserved Domains (2) summary

COG0513
Location:188 → 674

SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]

cd17947
Location:198 → 424

DEADc_DDX27; DEAD-box helicase domain of DEAD box protein 27
NM_017895.8 → NP_060365.8 probable ATP-dependent RNA helicase DDX27 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AL049766, AL357560

Consensus CDS

CCDS13416.2

UniProtKB/TrEMBL

B3GQE6, B7Z6D5

Related

ENSP00000482680.1, ENST00000618172.5

Conserved Domains (2) summary

COG0513
Location:188 → 643

SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]

cd17947
Location:198 → 393

DEADc_DDX27; DEAD-box helicase domain of DEAD box protein 27