Ddx11 DEAD/H box helicase 11 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ddx11provided by MGI
Official Full Name: DEAD/H box helicase 11provided by MGI
Primary source: MGI:MGI:2443590
See related: Ensembl:ENSMUSG00000035842 AllianceGenome:MGI:2443590
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: CHL1; KRG2; CHLR1; essa15a; 4732462I11Rik
Summary: Predicted to enable several functions, including 5'-3' DNA helicase activity; ATP-dependent activity, acting on RNA; and nucleic acid binding activity. Predicted to be involved in several processes, including cellular response to bleomycin; chromosome organization; and positive regulation of nucleobase-containing compound metabolic process. Predicted to be located in several cellular components, including extracellular exosome; microtubule cytoskeleton; and nuclear lumen. Predicted to be part of Ctf18 RFC-like complex. Predicted to be active in nucleus. Is expressed in several structures, including cerebral cortex; extraembryonic component; and placenta. Human ortholog(s) of this gene implicated in Warsaw breakage syndrome. Orthologous to several human genes including DDX11 (DEAD/H-box helicase 11). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 7.2), limb E14.5 (RPKM 5.7) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 E1.1; 17 35.26 cM

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (66430508..66459169)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (66123513..66152174)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ChlR1 is essential for embryonic development and the prevention of aneuploidy in mammals.
Title: Loss of ChlR1 helicase in mouse causes lethality due to the accumulation of aneuploid cells generated by cohesion defects and placental malformation.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Targeted (1) 1 citation

General gene information

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Markers

Chl1 (e-PCR), detects polymorphism
- UniSTS:531331

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 4 iron, 4 sulfur cluster binding	IEA Inferred from Electronic Annotation more info
enables 5'-3' DNA helicase activity	ISS Inferred from Sequence or Structural Similarity more info
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 ATP-dependent activity, acting on DNA	ISO Inferred from Sequence Orthology more info
enables ATP-dependent activity, acting on RNA	ISO Inferred from Sequence Orthology more info
enables ATP-dependent activity, acting on RNA	ISS Inferred from Sequence or Structural Similarity more info
enables DNA binding	ISO Inferred from Sequence Orthology more info
enables DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables DNA clamp loader activity	IEA Inferred from Electronic Annotation more info
enables DNA helicase activity	IBA Inferred from Biological aspect of Ancestor more info
enables DNA helicase activity	ISO Inferred from Sequence Orthology more info
enables DNA replication origin binding	ISO Inferred from Sequence Orthology more info
enables DNA replication origin binding	ISS Inferred from Sequence or Structural Similarity more info
enables G-quadruplex DNA binding	ISO Inferred from Sequence Orthology more info
enables G-quadruplex DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables chromatin binding	ISO Inferred from Sequence Orthology more info
enables chromatin binding	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 double-stranded DNA binding	ISO Inferred from Sequence Orthology more info
enables double-stranded DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables double-stranded DNA helicase activity	IEA Inferred from Electronic Annotation more info
enables forked DNA-dependent helicase activity	IEA Inferred from Electronic Annotation more info
enables four-way junction helicase activity	IEA Inferred from Electronic Annotation more info
enables helicase activity	ISO Inferred from Sequence Orthology more info
enables helicase activity	ISS Inferred from Sequence or Structural Similarity more info
enables isomerase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables single-stranded 3'-5' DNA helicase activity	IEA Inferred from Electronic Annotation more info
enables single-stranded DNA binding	ISO Inferred from Sequence Orthology more info
enables single-stranded DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables single-stranded RNA binding	ISO Inferred from Sequence Orthology more info
enables single-stranded RNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables triplex DNA binding	ISO Inferred from Sequence Orthology more info
enables triplex DNA binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in DNA damage response	ISS Inferred from Sequence or Structural Similarity more info
involved_in DNA duplex unwinding	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA duplex unwinding	ISS Inferred from Sequence or Structural Similarity more info
involved_in DNA repair	IEA Inferred from Electronic Annotation more info
involved_in G-quadruplex DNA unwinding	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to bleomycin	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to cisplatin	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to hydroxyurea	ISS Inferred from Sequence or Structural Similarity more info
involved_in chromatin looping	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in establishment of sister chromatid cohesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of protein binding	ISS Inferred from Sequence or Structural Similarity more info
involved_in nucleolar chromatin organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of chromatin binding	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of double-strand break repair	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of endodeoxyribonuclease activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of sister chromatid cohesion	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription of nucleolar large rRNA by RNA polymerase I	ISS Inferred from Sequence or Structural Similarity more info
involved_in replication fork processing	ISS Inferred from Sequence or Structural Similarity more info
involved_in sister chromatid cohesion	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of Ctf18 RFC-like complex	ISO Inferred from Sequence Orthology more info
part_of Ctf18 RFC-like complex	ISS Inferred from Sequence or Structural Similarity more info
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in centrosome	ISS Inferred from Sequence or Structural Similarity more info
located_in chromatin	ISO Inferred from Sequence Orthology more info
located_in chromatin	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	ISS Inferred from Sequence or Structural Similarity more info
located_in midbody	ISO Inferred from Sequence Orthology more info
located_in midbody	ISS Inferred from Sequence or Structural Similarity more info
NOT part_of mitotic cohesin complex	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in nucleolus	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with nucleus	ISO Inferred from Sequence Orthology more info
located_in spindle pole	ISO Inferred from Sequence Orthology more info
located_in spindle pole	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: ATP-dependent DNA helicase DDX11

Names: DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11; DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (CHL1-like helicase homolog, S. cerevisiae); DNA 5'-3' helicase DDX11; probable ATP-dependent RNA helicase DDX11

NP_001003919.1

EC 5.6.2.3

NP_001335221.1

EC 5.6.2.3

XP_006524472.1

EC 5.6.2.3

XP_006524473.1

EC 5.6.2.3

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_001003919.2 → NP_001003919.1 ATP-dependent DNA helicase DDX11 isoform 1

See identical proteins and their annotated locations for NP_001003919.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) uses an alternate in-frame splice site in the 5' coding region compared to variant 2. The encoded isoform (1) is shorter than isoform 2.

Source sequence(s)

BC079656, CT025671

Consensus CDS

CCDS28945.1

UniProtKB/TrEMBL

A0A2Y9CZM3

Related

ENSMUSP00000130440.3, ENSMUST00000163605.3

Conserved Domains (3) summary

TIGR00604
Location:199 → 863

rad3; DNA repair helicase (rad3)

pfam13307
Location:664 → 853

Helicase_C_2; Helicase C-terminal domain

cl21455
Location:22 → 408

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
NM_001348292.1 → NP_001335221.1 ATP-dependent DNA helicase DDX11 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) represents the longer transcript and encodes the longer isoform (2).

Source sequence(s)

AK152868, BC079656, CT025671

Consensus CDS

CCDS89137.1

UniProtKB/Swiss-Prot

A0A286YDJ5, Q6AXC6

Related

ENSMUSP00000153436.2, ENSMUST00000224497.2

Conserved Domains (1) summary

TIGR00604
Location:225 → 889

rad3; DNA repair helicase (rad3)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000083.7 Reference GRCm39 C57BL/6J

Range

66430508..66459169

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006524410.5 → XP_006524473.1 ATP-dependent DNA helicase DDX11 isoform X2

Conserved Domains (1) summary

cl28899
Location:22 → 434

DEAD-like_helicase_N; N-terminal helicase domain of the DEAD-box helicase superfamily
XM_006524409.4 → XP_006524472.1 ATP-dependent DNA helicase DDX11 isoform X1

See identical proteins and their annotated locations for XP_006524472.1

UniProtKB/Swiss-Prot

A0A286YDJ5, Q6AXC6

Conserved Domains (1) summary

TIGR00604
Location:225 → 889

rad3; DNA repair helicase (rad3)