ATP9B - ATPase phospholipid transporting 9B (putative) Gene
Also Known as NEO1L; hMMR1; ATPIIB; ATPASEP; HUSSY-20
Species: Homo sapiens
About ATP9B
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 |
ATP9B Protein Structure
E1-E2_ATPase: E1-E2 ATPase (188 - 445)
Hydrolase: haloacid dehalogenase-like hydrolase (466 - 886)
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- 1147 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
probable phospholipid-transporting ATPase IIB |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 |
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