1. Gene
  2. ATP11B - ATPase phospholipid transporting 11B (putative) Gene

ATP11B - ATPase phospholipid transporting 11B (putative) Gene

Homo sapiens

Also known as ATPIF; ATPIR

Gene ID: 23200 | Gene type: protein coding

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

ATP11B Protein Structure

E1-E2_ATPase

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

Hydrolase

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

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  • 1177 a.a.
Protein Preferred Names Protein Names

phospholipid-transporting ATPase IF

ATPase IR

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