DDX11 (DEAD/H-box helicase 11)

2003-02-01 Affiliation

Identity

HGNC

DDX11

LOCATION

12p11.21

LOCUSID

1663

ALIAS

CHL1,CHLR1,KRG2,WABS

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 1663
MIM: 601150
HGNC: 2736
Ensembl: ENSG00000013573

Variants:

dbSNP: 1663
ClinVar: 1663
TCGA: ENSG00000013573
COSMIC: DDX11

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000013573	ENST00000228264	Q96FC9
ENSG00000013573	ENST00000350437	Q96FC9
ENSG00000013573	ENST00000415475	F5GXJ8
ENSG00000013573	ENST00000435753	Q96FC9
ENSG00000013573	ENST00000438391	C9K0E8
ENSG00000013573	ENST00000535317	F5GXL6
ENSG00000013573	ENST00000538345	H0YGX9
ENSG00000013573	ENST00000539049	F5H235
ENSG00000013573	ENST00000539702	H0YFY8
ENSG00000013573	ENST00000540935	F6WZM0
ENSG00000013573	ENST00000542129	B4DMS8
ENSG00000013573	ENST00000542244	F5GYY1
ENSG00000013573	ENST00000542838	Q96FC9
ENSG00000013573	ENST00000543756	F5H2V9
ENSG00000013573	ENST00000544652	R4GNE1
ENSG00000013573	ENST00000545115	H0YGL4
ENSG00000013573	ENST00000545668	Q96FC9

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Metabolism of proteins	REACTOME	R-HSA-392499
Unfolded Protein Response (UPR)	REACTOME	R-HSA-381119
IRE1alpha activates chaperones	REACTOME	R-HSA-381070
XBP1(S) activates chaperone genes	REACTOME	R-HSA-381038

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
15520935	2005	Mapping of a major locus that determines telomere length in humans.	109
20124417	2010	Human Timeless and Tipin stabilize replication forks and facilitate sister-chromatid cohesion.	58
17105772	2006	The DNA helicase ChlR1 is required for sister chromatid cohesion in mammalian cells.	53
17189189	2006	ChlR1 is required for loading papillomavirus E2 onto mitotic chromosomes and viral genome maintenance.	51
22102414	2012	Biochemical characterization of Warsaw breakage syndrome helicase.	46
18499658	2008	Studies with the human cohesin establishment factor, ChlR1. Association of ChlR1 with Ctf18-RFC and Fen1.	41
23033317	2013	Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome.	34
24487782	2014	Molecular functions and cellular roles of the ChlR1 (DDX11) helicase defective in the rare cohesinopathy Warsaw breakage syndrome.	24
25561740	2015	A distinct triplex DNA unwinding activity of ChlR1 helicase.	20
26503245	2016	Tim/Timeless, a member of the replication fork protection complex, operates with the Warsaw breakage syndrome DNA helicase DDX11 in the same fork recovery pathway.	17

Citation

Dessen P

DDX11 (DEAD/H-box helicase 11)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40284/ddx11-(dead-h-box-helicase-11)