ANKLE1 (ankyrin repeat and LEM domain containing 1)

2016-12-01  

Identity

HGNC
ANKLE1
LOCATION
19p13.11
LOCUSID
126549
ALIAS
ANKRD41,LEM3,LEMD6
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 126549
HGNC: 26812
Ensembl: ENSG00000160117

Variants:

dbSNP: 126549
ClinVar: 126549
TCGA: ENSG00000160117
COSMIC: ANKLE1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160117ENST00000394458A0A499FJM0
ENSG00000160117ENST00000404085Q8NAG6
ENSG00000160117ENST00000404261A0A0A0MSC6
ENSG00000160117ENST00000594072M0QX15
ENSG00000160117ENST00000598347M0R002
ENSG00000160117ENST00000652132A0A494C092

Expression (GTEx)

0
5
10
15
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
208526312010A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.178
208526332010Common variants at 19p13 are associated with susceptibility to ovarian cancer.136
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
223998002012The endonuclease Ankle1 requires its LEM and GIY-YIG motifs for DNA cleavage in vivo.22
283628172017Cis-eQTL-based trans-ethnic meta-analysis reveals novel genes associated with breast cancer risk.14
289573212017Identification of breast cancer associated variants that modulate transcription factor binding.11
272452142016Nucleo-cytoplasmic shuttling of the endonuclease ankyrin repeats and LEM domain-containing protein 1 (Ankle1) is mediated by canonical nuclear export- and nuclear import signals.1

Citation

Dessen P

ANKLE1 (ankyrin repeat and LEM domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-12-01

Online version: http://atlasgeneticsoncology.org/gene/56679/ankle1