ATP9B - ATPase phospholipid transporting 9B (putative) Gene

Also Known as NEO1L; hMMR1; ATPIIB; ATPASEP; HUSSY-20

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 374868

About ATP9B

Cytogenetic location: 18q23 Genomic coordinates (GRCh38): 18:79,069,394-79,378,283 (from NCBI)

This gene has 25 transcripts (splice variants), 1 gene allele, 210 orthologues and 13 paralogues. Ubiquitous expression in testis (RPKM 2.8), thyroid (RPKM 2.2) and 25 other tissues.

Summary

Predicted to enable ATPase-coupled intramembrane lipid transporter activity. Predicted to be involved in endocytosis; phospholipid translocation; and retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum. Located in perinuclear region of cytoplasm and trans-Golgi network. [provided by Alliance of Genome Resources, Apr 2022]

ATP9B Products (2)

mRNA Protein Name
NM_001306085.2 NP_001293014.1 probable phospholipid-transporting ATPase IIB isoform 2
NM_198531.5 NP_940933.3 probable phospholipid-transporting ATPase IIB isoform 1
Cellular Component GO Annotation Evidence References Source
located in perinuclear region of cytoplasm IDA
IDA: Inferred from direct assay
21914794 GOA
located in trans-Golgi network 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

ATP9B Protein Structure

E1-E2_ATPase

E1-E2_ATPase: E1-E2 ATPase (188 - 445)

Hydrolase

Hydrolase: haloacid dehalogenase-like hydrolase (466 - 886)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1147 a.a.
Protein Preferred Names Protein Names

probable phospholipid-transporting ATPase IIB

  • ATPase type IV, phospholipid transporting (P-type)

Related Diseases

Diseases Alias
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

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 ATP9B VGNC VGNC:80424
Mus musculus ATP9B MGD MGI:1354757
Canis familiaris ATP9B VGNC VGNC:98512
Macaca mulatta ATP9B VGNC VGNC:101436
Rattus norvegicus ATP9B RGD RGD:1563006