ATP8B1 (ATPase phospholipid transporting 8B1)

2007-02-01  

Identity

HGNC
ATP8B1
LOCATION
18q21.31
LOCUSID
5205
ALIAS
ATPIC,BRIC,FIC1,ICP1,PFIC,PFIC1

Other Information

Locus ID:

NCBI: 5205
MIM: 602397
HGNC: 3706
Ensembl: ENSG00000081923

Variants:

dbSNP: 5205
ClinVar: 5205
TCGA: ENSG00000081923
COSMIC: ATP8B1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000081923ENST00000585322K7ESK2
ENSG00000081923ENST00000591728K7EQC4
ENSG00000081923ENST00000642462A0A2R8Y5C5
ENSG00000081923ENST00000648039A0A2R8Y5C5
ENSG00000081923ENST00000648467A0A3B3IRQ1
ENSG00000081923ENST00000648908O43520

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Ion transport by P-type ATPasesREACTOMER-HSA-936837

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid 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
367942872023ATP8B1: A prognostic prostate cancer biomarker identified via genetic analysis.1
379803522023Activation and substrate specificity of the human P4-ATPase ATP8B1.2
367942872023ATP8B1: A prognostic prostate cancer biomarker identified via genetic analysis.1
379803522023Activation and substrate specificity of the human P4-ATPase ATP8B1.2
349422792022Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort.2
353493442022Structural insights into the activation of autoinhibited human lipid flippase ATP8B1 upon substrate binding.12
354167732022Autoinhibition and regulation by phosphoinositides of ATP8B1, a human lipid flippase associated with intrahepatic cholestatic disorders.14
355858252022Modulation of ATP8B1 Gene Expression in Colorectal Cancer Cells Suggest its Role as a Tumor Suppressor.1
358942402022Clinical phenotype of adult-onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1.7
362931992022ATP8B1 Deficiency Results in Elevated Mitochondrial Phosphatidylethanolamine Levels and Increased Mitochondrial Oxidative Phosphorylation in Human Hepatoma Cells.2
349422792022Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort.2
353493442022Structural insights into the activation of autoinhibited human lipid flippase ATP8B1 upon substrate binding.12
354167732022Autoinhibition and regulation by phosphoinositides of ATP8B1, a human lipid flippase associated with intrahepatic cholestatic disorders.14
355858252022Modulation of ATP8B1 Gene Expression in Colorectal Cancer Cells Suggest its Role as a Tumor Suppressor.1
358942402022Clinical phenotype of adult-onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1.7

Citation

Dessen P

ATP8B1 (ATPase phospholipid transporting 8B1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45755/js/lib/gene-explorer/teaching-explorer/js/lib/zoomerang.js