DDX25 DEAD-box helicase 25 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DDX25provided by HGNC
Official Full Name: DEAD-box helicase 25provided by HGNC
Primary source: HGNC:HGNC:18698
See related: Ensembl:ENSG00000109832 MIM:607663; AllianceGenome:HGNC:18698
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: GRTH
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 the 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 encoded protein is a gonadotropin-regulated and developmentally expressed testicular RNA helicase. It may serve to maintain testicular functions related to steroidogenesis and spermatogenesis. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward testis (RPKM 40.9) See more
Orthologs: mouse all
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Genomic context

Location:: 11q24.2

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (125903328..125928843)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (125932197..125957695)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (125773223..125798738)

Chromosome 11 - NC_000011.10 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: 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?

Targeted knock-in mice with a human mutation in GRTH/DDX25 reveals the essential role of phosphorylated GRTH in spermatid development during spermatogenesis.
Title: Targeted knock-in mice with a human mutation in GRTH/DDX25 reveals the essential role of phosphorylated GRTH in spermatid development during spermatogenesis.
Characterization of the Phosphorylation Site of GRTH/DDX25 and Protein Kinase A Binding Interface Provides Structural Basis for the Design of a Non-Hormonal Male Contraceptive.
Title: Characterization of the Phosphorylation Site of GRTH/DDX25 and Protein Kinase A Binding Interface Provides Structural Basis for the Design of a Non-Hormonal Male Contraceptive.
Analysed the association of GRTH gene IVS6+55G/T and c.852C/T polymorphisms with male infertility. The c.852 T allele was associated with an increased risk of male infertility (OR: 3.16, P = 0.008), whereas IVS6+55G/T allele conferred no risk.
Title: Association of the gonadotrophin-regulated testicular RNA helicase gene polymorphism with human male infertility.
multifunctional RNA helicase that is an essential regulator of spermatogenesis
Title: Gonadotropin-regulated testicular RNA helicase (GRTH/DDX25): a multifunctional protein essential for spermatogenesis.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array.
Data show that the Arg(242)His missense mutation of the GRTH/DDX25 gene associated with expression of a protein with reduced basicity, and the absence of the phospho-GRTH species, could impact on germ cell development and/or function.
Title: Polymorphism of the GRTH/DDX25 gene in normal and infertile Japanese men: a missense mutation associated with loss of GRTH phosphorylation.
Observational study of gene-disease association. (HuGE Navigator)
Title: Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent.
The association of GRTH mutations with male infertility underlines the importance of GRTH as a central, post-transcriptional regulator of spermatogenesis.
Title: Gonadotropin-regulated testicular helicase (GRTH/DDX25): an essential regulator of spermatogenesis.
SNP IVS6+55G-->T and c.852C-->T of GRTH gene may be associated with male infertility with azoospermia or severe oligozoospermia.
Title: Single nucleotide polymorphisms of the gonadotrophin-regulated testicular helicase (GRTH) gene may be associated with the human spermatogenesis impairment.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	ISS Inferred from Sequence or Structural Similarity 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 helicase activity	IBA Inferred from Biological aspect of Ancestor more info
enables RNA helicase activity	ISS Inferred from Sequence or Structural Similarity 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 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	ISS Inferred from Sequence or Structural Similarity more info
involved_in poly(A)+ mRNA export from nucleus	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of translation	ISS Inferred from Sequence or Structural Similarity more info
involved_in spermatid development	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in chromatoid body	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasmic stress granule	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: ATP-dependent RNA helicase DDX25

Names: DEAD (Asp-Glu-Ala-Asp) box helicase 25; DEAD (Asp-Glu-Ala-Asp) box polypeptide 25; DEAD box protein 25; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 25; epididymis secretory sperm binding protein; gonadotropin-regulated testicular RNA helicase

NP_001317367.1

EC 3.6.4.13

NP_037396.3

EC 3.6.4.13

XP_047282805.1

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_001330438.2 → NP_001317367.1 ATP-dependent RNA helicase DDX25 isoform 2

Status: REVIEWED

Source sequence(s)

AL520666, AL534333, AP000842

Consensus CDS

CCDS81646.1

UniProtKB/TrEMBL

A0A384NYS3, E9PR46

Related

ENSP00000490224.1, ENST00000525943.1

Conserved Domains (2) summary

cd18787
Location:198 → 334

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

cl28899
Location:1 → 194

DEAD-like_helicase_N; N-terminal helicase domain of the DEAD-box helicase superfamily
NM_013264.5 → NP_037396.3 ATP-dependent RNA helicase DDX25 isoform 1

See identical proteins and their annotated locations for NP_037396.3

Status: REVIEWED

Source sequence(s)

AF155140, AL563479, AP000842, BC050360

Consensus CDS

CCDS44766.1

UniProtKB/Swiss-Prot

B2R6Z0, Q5XVN2, Q86W81, Q8IYP1, Q9UHL0

UniProtKB/TrEMBL

J3QL17

Related

ENSP00000263576.6, ENST00000263576.11

Conserved Domains (3) summary

smart00487
Location:112 → 315

DEXDc; DEAD-like helicases superfamily

cd00079
Location:311 → 447

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:111 → 301

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases