ATP11B - ATPase phospholipid transporting 11B (putative) Gene

Also Known as ATPIF; ATPIR

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23200

About ATP11B

Cytogenetic location: 3q26.33 Genomic coordinates (GRCh38): 3:182,793,504-182,921,629 (from NCBI)

This gene has 10 transcripts (splice variants), 225 orthologues and 13 paralogues. Ubiquitous expression in esophagus (RPKM 12.0), bone marrow (RPKM 11.3) and 25 other tissues.

Summary

P-type ATPases, such as ATP11B, are phosphorylated in their intermediate state and drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily transports heavy metal ions, such as Cu(2+) or Cd(2+). Another subfamily transports non-heavy metal ions, such as H(+), Na(+), K(+), or CA(+). A third subfamily transports amphipaths, such as phosphatidylserine.[supplied by OMIM, Feb 2005]

ATP11B Products (1)

mRNA Protein Name
NM_014616.3 NP_055431.1 phospholipid-transporting ATPase IF
Molecular Function GO Annotation Evidence Verweise Source
enables protein binding IPI
IPI: Inferred from physical interaction
21914794 GOA
Cellular Component GO Annotation Evidence Verweise Source
located in early endosome membrane IDA
IDA: Inferred from direct assay
31571211 GOA
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
21914794 GOA
located in membrane IPI
IPI: Inferred from physical interaction
31571211 GOA
part of phospholipid-translocating ATPase complex IPI
IPI: Inferred from physical interaction
31571211 GOA
located in recycling endosome IDA
IDA: Inferred from direct assay
21914794 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ATP11B Protein Structure

E1-E2_ATPase

E1-E2_ATPase: E1-E2 ATPase (94 - 368)

Hydrolase

Hydrolase: haloacid dehalogenase-like hydrolase (404 - 832)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1177 a.a.
Protein Preferred Names Protein Names

phospholipid-transporting ATPase IF

  • ATPase IR

ATP11B Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
ATP11B Q9Y2G3 IFNA21 Homo sapiens P01568 33961781
Intra
ATP11B Q9Y2G3 IFNA21 Homo sapiens P01568 28514442
Intra
ATP11B Q9Y2G3 TMEM30A Homo sapiens Q9NV96 31571211
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Hypoparathyroidism, X-Linked
  • HYPX

  • X-Linked Hypoparathyroidism

  • Parathyroid Glands, Agenesis Of

  • Agenesis Of Parathyroid Glands

  • Hypoparathyroidism X-Linked

  • Hypoparathyroidism - X-Linked

Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
  • Dysequilibrium Syndrome

  • CAMRQ1

  • Des

  • Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 1

  • Cerebellar Hypoplasia, Vldlr-Associated

  • Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion 1

  • Cerebellar Ataxia, Mental Retardation And Dysequlibrium Syndrome

  • Uner Tan Syndrome

  • Vldlr Cerebellar Hypoplasia

  • Vldlrch

  • Vldlr-Associated Cerebellar Hypoplasia

  • Cerebellar Ataxia And Mental Retardation With Or Without Quadrupedal Locomotion 1

  • Cerebellar Ataxia, Congenital, And Mental Retardation, Autosomal Recessive

  • Camrq

  • Cerebellar Ataxia, Mental Retardation, Dysequilibrium Syndrome 1

  • Cerebellar Disorder, Nonprogressive, With Intellectual Disability

  • Cerebellar Hypoplasia, Vldlr Associated

  • Autosomal Recessive Cerebellar Ataxia With Mental Retardation

  • Autosomal Recessive Cerebellar Hypoplasia With Cerebral Gyral Simplification

  • Cerebellar Disorder, Nonprogressive, With Mental Retardation

  • Cerebellar Hypoplasia And Mental Retardation With Or Without Quadrupedal Locomotion

  • Chmrq1

  • Des-Vldlr

  • Dysequilibrium Syndrome-Vldlr

  • Vldlr-Ch

  • Camrq Syndrome

  • Cerebellar Ataxia-Intellectual Disability-Dysequilibrium Syndrome Syndrome

  • Non-Progressive Cerebellar Ataxia-Intellectual Disability Syndrome

  • Uts

  • Cerebellar Hypoplasia Vldlr-Associated

  • Dialysis Disequilibrium Syndrome

Cholestasis, Progressive Familial Intrahepatic, 1
  • PFIC1

  • Byler Disease

  • Cholestasis, Progressive Familial Intrahepatic 1

  • Progressive Familial Intrahepatic Cholestasis 1

  • Progressive Familial Intrahepatic Cholestasis Type 1

  • Fic1 Deficiency

  • Byler'S Disease

  • Cholestasis, Fatal Intrahepatic

  • Progressive Familial Intrahepatic Cholestasis

  • Severe Atp8b1 Deficiency

  • Fatal Intrahepatic Cholestasis

  • Cholestasis, Intrahepatic, Familial, Progressive, Type 1

  • Progressive Intrahepatic Cholestasis

  • Cholestasis, Progressive Familial Intrahepatic 3

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus ATP11B VGNC VGNC:102600
Macaca mulatta ATP11B VGNC VGNC:84236
Rattus norvegicus ATP11B RGD RGD:1561719
Mus musculus ATP11B MGD MGI:1923545
Bos taurus ATP11B VGNC VGNC:54671
Others ATP11B NCBI