help  | about  | cite  | software

Gene : ATP8B1 Homo sapiens

Name  ? ATPase phospholipid transporting 8B1 Cytological Location  18q21.31
Brief Description  ATPase phospholipid transporting 8B1
Description  This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Mutations in this gene may result in progressive familial intrahepatic cholestasis type 1 and in benign recurrent intrahepatic cholestasis. [provided by RefSeq, Jul 2008]
  • synonyms:
  • PFIC,
  • ATPase, aminophospholipid transporter, class I, type 8B, member 1,
  • PFIC1,
  • ATP8B1,
  • ATPase, class I, type 8B, member 1,
  • BRIC,
  • FIC1,
  • ATPIC,
  • AF038007,
  • PFIC1,
  • ATPase, Class I, type 8B, member 1,
  • FIC1,
  • ICP1,
  • NM_005603,
  • BRIC,
  • HGNC:3706,
  • OTTHUMG00000180255,
  • ATPIC,
  • uc002lgw.5,
  • PFIC
  • identifiers:
  • 5205,
  • ENSG00000081923,
  • ATP8B1

Genome feature

Region: gene ? Length: 157397  
Location: 18:57646426-57803822 reverse strand Cyto location: 18q21.31


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

3 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Gene --> Orthologues

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

271 SN Ps

5 Cross References

19 Data Sets

18 Homologues

0 Located Features

97 Rna Seq Results