DDX19B DEAD-box helicase 19B [Homo sapiens (human)] - Gene

Summary

Official Symbol: DDX19Bprovided by HGNC
Official Full Name: DEAD-box helicase 19Bprovided by HGNC
Primary source: HGNC:HGNC:2742
See related: Ensembl:ENSG00000157349 MIM:605812; AllianceGenome:HGNC:2742
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: DBP5; RNAh; DDX19
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, which exhibits RNA-dependent ATPase and ATP-dependent RNA-unwinding activities. This protein is recruited to the cytoplasmic fibrils of the nuclear pore complex, where it participates in the export of mRNA from the nucleus. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in testis (RPKM 16.5), thyroid (RPKM 10.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q22.1

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (70289767..70335305)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (76100775..76146326)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (70323670..70369208)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

SUMOylation modulates the function of DDX19 in mRNA export.
Title: SUMOylation modulates the function of DDX19 in mRNA export.
Translation mediated by the nuclear cap-binding complex is confined to the perinuclear region via a CTIF-DDX19B interaction.
Title: Translation mediated by the nuclear cap-binding complex is confined to the perinuclear region via a CTIF-DDX19B interaction.
Emerging molecular functions and novel roles for the DEAD-box protein Dbp5/DDX19 in gene expression.
Title: Emerging molecular functions and novel roles for the DEAD-box protein Dbp5/DDX19 in gene expression.
Dbp5/DDX19 between Translational Readthrough and Nonsense Mediated Decay.
Title: Dbp5/DDX19 between Translational Readthrough and Nonsense Mediated Decay.
Results found that Nup159 did not accelerate ADP release, while Gle1 actually slowed it independently of Mg(2+) which is not consistent with Nup159 acting as a nucleotide exchange factor to promote ADP release and Dbp5 ATPase cycling. Instead, in the presence of Nup159, the interaction between Gle1 and ADP-bound Dbp5 was found more reduced, suggesting that Nup159 alters the Dbp5-Gle1 to aid Gle1 release from Dbp5.
Title: Nup159 Weakens Gle1 Binding to Dbp5 But Does Not Accelerate ADP Release.
These results imply that DBP5, GLE1 and IP6 have a conserved and individual function in the cytoplasmic mRNA expression. Variations in phenotype are due to the difference in each function of DBP5, GLE1 and IPPK in intracellular mRNA metabolism.
Title: Depletion of mRNA export regulator DBP5/DDX19, GLE1 or IPPK that is a key enzyme for the production of IP6, resulting in differentially altered cytoplasmic mRNA expression and specific cell defect.
DDX19 interacts with pre-termination complexes (preTCs) in a nucleotide-dependent manner. Furthermore, DDX19 increases the efficiency of termination complex (TC) formation and the peptide release in the presence of eukaryotic release factors. DDX19 also stabilizes ribosome complexes with translation elongation factors eEF1 and eEF2.
Title: RNA helicase DDX19 stabilizes ribosomal elongation and termination complexes.
Ddx19 is an RNA export factor required for nuclear import of the SRF coactivator MKL1
Title: RNA export factor Ddx19 is required for nuclear import of the SRF coactivator MKL1.
Dbp5, Gle1-IP6 and Nup159: a working model for mRNP export.
Title: Dbp5, Gle1-IP6 and Nup159: a working model for mRNP export.
Results describe the crystal structures of human DDX19, a DEXD/H-box protein, in its open and closed cleft conformations.
Title: The DEXD/H-box RNA helicase DDX19 is regulated by an {alpha}-helical switch.

Submit: New GeneRIF Correction See all GeneRIFs (12)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-53094 (e-PCR)
- UniSTS:16148

SHGC-60774 (e-PCR)
- UniSTS:292

Ddx19a (e-PCR), detects polymorphism
- UniSTS:479095

G22257 (e-PCR)
- UniSTS:1153

RH48691 (e-PCR)
- UniSTS:35735

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	TAS Traceable Author Statement more info	PubMed
enables RNA helicase activity	IBA Inferred from Biological aspect of Ancestor 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 helicase activity	TAS Traceable Author Statement more info	PubMed
enables mRNA binding	IBA Inferred from Biological aspect of Ancestor 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 mRNA export from nucleus	TAS Traceable Author Statement more info	PubMed
involved_in poly(A)+ mRNA export from nucleus	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
is_active_in cytoplasmic stress granule	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	HDA more info	PubMed
located_in nuclear envelope	IDA Inferred from Direct Assay more info
part_of nuclear pore	TAS Traceable Author Statement more info	PubMed
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ATP-dependent RNA helicase DDX19B

Names: ATP-dependent RNA helicase DDX19; DEAD (Asp-Glu-Ala-As) box polypeptide 19B; DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B; DEAD box protein 19B; DEAD-box RNA helicase DEAD5; DEAD-box protein 5; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog); dead box protein 5 homolog; yeast Dbp5 homolog

NP_001014449.1

EC 3.6.4.13

NP_001014451.1

EC 3.6.4.13

NP_001244101.1

EC 3.6.4.13

NP_001244102.1

EC 3.6.4.13

NP_001244103.1

EC 3.6.4.13

NP_001244104.1

EC 3.6.4.13

NP_001350867.1

EC 3.6.4.13

NP_009173.1

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_001014449.3 → NP_001014449.1 ATP-dependent RNA helicase DDX19B isoform 3

See identical proteins and their annotated locations for NP_001014449.1

Status: REVIEWED

Source sequence(s)

AC012184, BC003626, BC010008, BI756088, DC385044

Consensus CDS

CCDS42187.1

UniProtKB/TrEMBL

Q69YM2

Related

ENSP00000377267.2, ENST00000393657.6

Conserved Domains (1) summary

COG0513
Location:1 → 369

SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
NM_001014451.3 → NP_001014451.1 ATP-dependent RNA helicase DDX19B isoform 2

See identical proteins and their annotated locations for NP_001014451.1

Status: REVIEWED

Source sequence(s)

AC012184, AL136639, BC003626, BI756088, DC385044

Consensus CDS

CCDS32475.1

UniProtKB/TrEMBL

B4DS24

Related

ENSP00000348271.3, ENST00000355992.7

Conserved Domains (1) summary

COG0513
Location:101 → 447

SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
NM_001257172.2 → NP_001244101.1 ATP-dependent RNA helicase DDX19B isoform 4

Status: REVIEWED

Source sequence(s)

AC012184, AK302107

Consensus CDS

CCDS58478.1

UniProtKB/TrEMBL

B4DS24

Related

ENSP00000392639.3, ENST00000451014.7

Conserved Domains (3) summary

COG0513
Location:106 → 452

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

cd00079
Location:281 → 416

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:105 → 270

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
NM_001257173.2 → NP_001244102.1 ATP-dependent RNA helicase DDX19B isoform 3

See identical proteins and their annotated locations for NP_001244102.1

Status: REVIEWED

Source sequence(s)

AC012184, AK301938

Consensus CDS

CCDS42187.1

UniProtKB/TrEMBL

Q69YM2

Related

ENSP00000456757.1, ENST00000568625.5

Conserved Domains (1) summary

COG0513
Location:1 → 369

SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
NM_001257174.2 → NP_001244103.1 ATP-dependent RNA helicase DDX19B isoform 3

See identical proteins and their annotated locations for NP_001244103.1

Status: REVIEWED

Source sequence(s)

AC012184, AF353720

Consensus CDS

CCDS42187.1

UniProtKB/TrEMBL

Q69YM2

Related

ENSP00000456574.1, ENST00000563392.5

Conserved Domains (1) summary

COG0513
Location:1 → 369

SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
NM_001257175.2 → NP_001244104.1 ATP-dependent RNA helicase DDX19B isoform 5

See identical proteins and their annotated locations for NP_001244104.1

Status: REVIEWED

Source sequence(s)

AC012184, AK296868, DC385044

UniProtKB/TrEMBL

B4DL69, Q69YM2

Conserved Domains (2) summary

COG0513
Location:9 → 327

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

cl28899
Location:1 → 145

DEAD-like_helicase_N; N-terminal helicase domain of the DEAD-box helicase superfamily
NM_001363938.1 → NP_001350867.1 ATP-dependent RNA helicase DDX19B isoform 6

Status: REVIEWED

Source sequence(s)

AC012184

Consensus CDS

CCDS86540.1

UniProtKB/TrEMBL

H3BQK0, Q2NL95

Related

ENSP00000455813.1, ENST00000563206.5

Conserved Domains (1) summary

COG0513
Location:95 → 483

SrmB; Superfamily II DNA and RNA helicase [Replication, recombination and repair]
NM_007242.7 → NP_009173.1 ATP-dependent RNA helicase DDX19B isoform 1

See identical proteins and their annotated locations for NP_009173.1

Status: REVIEWED

Source sequence(s)

AC012184

Consensus CDS

CCDS10888.1

UniProtKB/Swiss-Prot

B3KNE9, B4DXS6, E7EMK4, Q6FIB7, Q6IAE0, Q96KE7, Q9H0U0, Q9UMR2

UniProtKB/TrEMBL

A0A0U4B4U6, Q53G16

Related

ENSP00000288071.7, ENST00000288071.11

Conserved Domains (2) summary

cd18787
Location:307 → 443

SF2_C_DEAD; C-terminal helicase domain of the DEAD box helicases

cl28899
Location:75 → 303

DEAD-like_helicase_N; N-terminal helicase domain of the DEAD-box helicase superfamily