PharmGKB: The Pharmacogenomics Knowledge Base

Gene:
ATP8B1
ATPase, class I, type 8B, member 1

Overview

Alternate Names: ATPase ,Class I, type 8B, member 1; ATPase, Class I, type 8B, member 1; E1-E2 ATPase; Homo sapiens, ATPase, Class I, type 8B, member 1.; OTTHUMP00000163615; benign recurrent intrahepatic cholestasis; familial intrahepatic cholestasis 1, (progressive, Byler disease and benign recurrent); familial intrahepatic cholestasis type 1; phospholipid-transporting ATPase IC; progressive familial intrahepatic cholestasis 1, Byler disease
Alternate Symbols: AF038007.1; ATPIC; BRIC; FIC1; PFIC; PFIC1
PharmGKB Accession Id: PA265

Details

Cytogenetic Location: chr18 : q21.31
GP mRNA Boundary†: chr18 : 53466583 - 53550037
GP Gene Boundary†: chr18 : 53463583 - 53560037
Strand: minus
Product Name: ATPase, Class I, type 8B, member 1, E1-E2 ATPase, benign recurrent intrahepatic cholestasis, familial intrahepatic cholestasis type 1, phospholipid-transporting ATPase IC, progressive familial intrahepatic cholestasis 1, Byler disease
† The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

Non-Curated Information

A list of non-curated publications that mention this gene along with other genes is available.

Non-Curated Information

A list of non-curated publications that mention this gene along with other drugs is available.

Curated Information

The following diseases are in curated knowledge about this gene.

  Disease Relationship Evidence
Phenotype data available Genotype Data Available Literature annotations available Not annotated
Breast Neoplasms
  • CO
  •   
  •   
  •   
  • GN
Publications

Non-Curated Information

A list of non-curated publications that mention this gene along with other diseases is available.

Downloads

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LinkOuts

Entrez Gene ID:
5205
OMIM Accession:
211600
243300
602397
UCSC Genome Browser ID:
NM_005603
Ref Seq NM Accession:
NM_005603
Ref Seq NP Accession:
AAC04328
AAC63461
AAH03534
AAI72221
EAW63054
EAW63055
NP_005594
O43520
Ref Seq NT Accession:
AC_000061
AC_000150
NC_000018
NG_007148
NT_025028
NW_001838469
NW_927106
UniProtKB Accesssion:
AT8B1_HUMAN (O43520)
Ensembl ID:
ENSG00000081923
GenAtlas ID:
ATP8B1
GeneCard ID:
ATP8B1
SOURCE ID:
ATP8B1
MutDB ID:
ATP8B1
HuGE ID:
ATP8B1
Comparative Toxicogenomics Acc ID:
5205
ModBase:
O43520

Common Searches

Non-Curated Publications

A list of non-curated publications that mention this gene is available.

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