ANKRD1 (ankyrin repeat domain 1)

2008-05-01  

Identity

HGNC
ANKRD1
LOCATION
10q23.31
LOCUSID
27063
ALIAS
ALRP,C-193,CARP,CVARP,MCARP,bA320F15.2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 27063
MIM: 609599
HGNC: 15819
Ensembl: ENSG00000148677

Variants:

dbSNP: 27063
ClinVar: 27063
TCGA: ENSG00000148677
COSMIC: ANKRD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000148677ENST00000371697Q15327
ENSG00000148677ENST00000371697A0A384NYH5

Expression (GTEx)

0
500
1000
1500
2000
2500
3000
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

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)REACTOMER-HSA-400206
PPARA activates gene expressionREACTOMER-HSA-1989781

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
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
196080312009Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy.54
196080312009Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy.54
196080302009ANKRD1, the gene encoding cardiac ankyrin repeat protein, is a novel dilated cardiomyopathy gene.51
196080302009ANKRD1, the gene encoding cardiac ankyrin repeat protein, is a novel dilated cardiomyopathy gene.51
195252942009Mutations in the ANKRD1 gene encoding CARP are responsible for human dilated cardiomyopathy.32
195252942009Mutations in the ANKRD1 gene encoding CARP are responsible for human dilated cardiomyopathy.32
120546672002Cardiac ankyrin repeat protein, a negative regulator of cardiac gene expression, is augmented in human heart failure.29
206286242010Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot".29
221856182011Muscle ankyrin repeat proteins: their role in striated muscle function in health and disease.29
205996642010A novel role for cardiac ankyrin repeat protein Ankrd1/CARP as a co-activator of the p53 tumor suppressor protein.27

Citation

Dessen P

ANKRD1 (ankyrin repeat domain 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-05-01

Online version: http://atlasgeneticsoncology.org/gene/50102/ankrd1