DDX31 DEAD-box helicase 31 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DDX31provided by HGNC
Official Full Name: DEAD-box helicase 31provided by HGNC
Primary source: HGNC:HGNC:16715
See related: Ensembl:ENSG00000125485 MIM:616533; AllianceGenome:HGNC:16715
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: PPP1R25
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 DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2016]
Expression: Ubiquitous expression in thyroid (RPKM 4.3), ovary (RPKM 2.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.13

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (132592997..132669983, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (144804196..144881203, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (135468384..135545370, complement)

Chromosome 9 - NC_000009.12 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: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DDX31 cooperates with mutp53 and EGFR to promote progression of muscle invasive bladder cancer.
Title: A DDX31/Mutant-p53/EGFR Axis Promotes Multistep Progression of Muscle-Invasive Bladder Cancer.
Findings define a mechanism through which control of the DDX31-NPM1 complex is likely to play critical roles in renal carcinogenesis.
Title: DDX31 regulates the p53-HDM2 pathway and rRNA gene transcription through its interaction with NPM1 in renal cell carcinomas.

Submit: New GeneRIF Correction

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

DDX31_4688 (e-PCR)
- UniSTS:462859

A009E13 (e-PCR)
- UniSTS:83264

D9S2127 (e-PCR)
- UniSTS:473724

WI-20657 (e-PCR)
- UniSTS:6024

WI-16882 (e-PCR)
- UniSTS:8356

G59510 (e-PCR)
- UniSTS:136674

RH48740 (e-PCR)
- UniSTS:20717

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 isomerase 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 ribosome biogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in ribosome biogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in nucleolus	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ATP-dependent DNA helicase DDX31

Names: DEAD (Asp-Glu-Ala-Asp) box polypeptide 31; DEAD box protein 31; DEAD/DEXH helicase DDX31; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31; G2 helicase; helicain; probable ATP-dependent RNA helicase DDX31; protein phosphatase 1, regulatory subunit 25

NP_001309269.2

EC 3.6.4.13

NP_001309270.1

EC 3.6.4.13

NP_001309271.1

EC 3.6.4.13

NP_001309272.1

EC 3.6.4.13

NP_001309273.2

EC 3.6.4.13

NP_073616.7

EC 3.6.4.13

NP_619526.2

EC 3.6.4.13

XP_011517223.2

EC 3.6.4.13

XP_011517224.2

EC 3.6.4.13

XP_047279689.1

EC 3.6.4.13

XP_047279690.1

EC 3.6.4.13

XP_047279691.1

EC 3.6.4.13

XP_047279692.1

EC 3.6.4.13

XP_047279693.1

EC 3.6.4.13

XP_047279694.1

EC 3.6.4.13

XP_047279695.1

EC 3.6.4.13

XP_054219531.1

EC 3.6.4.13

XP_054219532.1

EC 3.6.4.13

XP_054219533.1

EC 3.6.4.13

XP_054219534.1

EC 3.6.4.13

XP_054219535.1

EC 3.6.4.13

XP_054219536.1

EC 3.6.4.13

XP_054219537.1

EC 3.6.4.13

XP_054219538.1

EC 3.6.4.13

XP_054219539.1

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_001322340.2 → NP_001309269.2 ATP-dependent DNA helicase DDX31 isoform 3

Status: REVIEWED

Source sequence(s)

AL160165, AL354735

UniProtKB/TrEMBL

B4DYZ1

Conserved Domains (2) summary

PRK01297
Location:21 → 507

PRK01297; ATP-dependent RNA helicase RhlB; Provisional

cd17949
Location:136 → 339

DEADc_DDX31; DEAD-box helicase domain of DEAD box protein 31
NM_001322341.2 → NP_001309270.1 ATP-dependent DNA helicase DDX31 isoform 4

Status: REVIEWED

Source sequence(s)

AL160165, AL354735

UniProtKB/TrEMBL

B4DYZ1

Conserved Domains (4) summary

PRK01297
Location:37 → 570

PRK01297; ATP-dependent RNA helicase RhlB; Provisional

cd00268
Location:136 → 348

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 ...

pfam00271
Location:405 → 527

Helicase_C; Helicase conserved C-terminal domain

pfam13959
Location:597 → 658

DUF4217; Domain of unknown function (DUF4217)
NM_001322342.1 → NP_001309271.1 ATP-dependent DNA helicase DDX31 isoform 5

Status: REVIEWED

Source sequence(s)

AL160165, AL354735

UniProtKB/TrEMBL

B4DYZ1

Conserved Domains (4) summary

smart00487
Location:77 → 274

DEXDc; DEAD-like helicases superfamily

cd00268
Location:55 → 267

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 ...

pfam00271
Location:324 → 446

Helicase_C; Helicase conserved C-terminal domain

pfam13959
Location:516 → 577

DUF4217; Domain of unknown function (DUF4217)
NM_001322343.1 → NP_001309272.1 ATP-dependent DNA helicase DDX31 isoform 6

Status: REVIEWED

Source sequence(s)

AL160165, AL354735

UniProtKB/TrEMBL

B4DYZ1

Conserved Domains (4) summary

PRK01297
Location:1 → 537

PRK01297; ATP-dependent RNA helicase RhlB; Provisional

cd00268
Location:103 → 315

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 ...

pfam00271
Location:372 → 494

Helicase_C; Helicase conserved C-terminal domain

pfam13959
Location:564 → 625

DUF4217; Domain of unknown function (DUF4217)
NM_001322344.2 → NP_001309273.2 ATP-dependent DNA helicase DDX31 isoform 7

Status: REVIEWED

Source sequence(s)

AL160165

Consensus CDS

CCDS83433.2

Related

ENSP00000479697.2, ENST00000480876.3

Conserved Domains (2) summary

PRK01297
Location:28 → 189

PRK01297; ATP-dependent RNA helicase RhlB; Provisional

cl28899
Location:136 → 196

DEAD-like_helicase_N; N-terminal helicase domain of the DEAD-box helicase superfamily
NM_022779.9 → NP_073616.7 ATP-dependent DNA helicase DDX31 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AL160165, AL354735

Consensus CDS

CCDS6951.2

UniProtKB/TrEMBL

B4DYZ1

Related

ENSP00000361232.4, ENST00000372159.8

Conserved Domains (3) summary

COG0513
Location:123 → 617

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

cd17949
Location:136 → 339

DEADc_DDX31; DEAD-box helicase domain of DEAD box protein 31

pfam13959
Location:589 → 649

DUF4217; Domain of unknown function (DUF4217)
NM_138620.2 → NP_619526.2 ATP-dependent DNA helicase DDX31 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) has a shorter and alternate 3' region, as compared to variant 1. Since the first 3 nt of the alternate region is just an in-frame translation stop codon, this variant encodes a C-terminal truncated isoform (2) compared to isoform 1.

Source sequence(s)

AL160165

Consensus CDS

CCDS6952.2

UniProtKB/TrEMBL

A0AAK2PNZ4

Related

ENSP00000310539.2, ENST00000310532.7

Conserved Domains (2) summary

cd17949
Location:136 → 339

DEADc_DDX31; DEAD-box helicase domain of DEAD box protein 31

cl38915
Location:376 → 480

DEAD-like_helicase_C; C-terminal helicase domain of the DEAD-like helicases