1. Gene
  2. ATP9B - ATPase phospholipid transporting 9B (putative) Gene

ATP9B - ATPase phospholipid transporting 9B (putative) Gene

Homo sapiens

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

Gene ID: 374868 | Gene type: protein coding

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

ATP9B Protein Structure

E1-E2_ATPase

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

Hydrolase

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

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  • 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