1. Gene
  2. ATP10B - ATPase phospholipid transporting 10B (putative) Gene

ATP10B - ATPase phospholipid transporting 10B (putative) Gene

Homo sapiens

Also known as ATPVB

Gene ID: 23120 | Gene type: protein coding

About ATP10B

Cytogenetic location: 5q34 Genomic coordinates (GRCh38): 5:160,563,120-160,929,360 (from NCBI)

This gene has 12 transcripts (splice variants), 211 orthologues and 13 paralogues. Biased expression in colon (RPKM 23.9), duodenum (RPKM 11.1) and 7 other tissues.

Summary

Enables glycosylceramide flippase activity and phosphatidylcholine flippase activity. Involved in lysosomal membrane organization. Located in endoplasmic reticulum. Is integral component of lysosomal membrane. Part of phospholipid-translocating ATPase complex. [provided by Alliance of Genome Resources, Apr 2022]

ATP10B Products(9)

mRNA Protein Name
NM_001366652.1 NP_001353581.1 phospholipid-transporting ATPase VB isoform 1
NM_001366653.2 NP_001353582.1 phospholipid-transporting ATPase VB isoform 2
NM_001366654.2 NP_001353583.1 phospholipid-transporting ATPase VB isoform 3
NM_001366655.1 NP_001353584.1 phospholipid-transporting ATPase VB isoform 1
NM_001366656.2 NP_001353585.1 phospholipid-transporting ATPase VB isoform 2
NM_001366657.1 NP_001353586.1 phospholipid-transporting ATPase VB isoform 4
NM_001366658.2 NP_001353587.1 phospholipid-transporting ATPase VB isoform 5
NM_001410822.1 NP_001397751.1 phospholipid-transporting ATPase VB isoform 6
NM_025153.3 NP_079429.2 phospholipid-transporting ATPase VB isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables glycosylceramide flippase activity IDA
IDA: Inferred from direct assay
32172343 GOA
enables phosphatidylcholine flippase activity IDA
IDA: Inferred from direct assay
32172343 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
21914794 GOA
Biological Process GO Annotation Evidence Reference Source
involved in lysosomal membrane organization IDA
IDA: Inferred from direct assay
32172343 GOA
Cellular Component GO Annotation Evidence Reference Source
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
21914794 GOA
located in late endosome membrane IDA
IDA: Inferred from direct assay
26567335 GOA
located in lysosomal membrane IDA
IDA: Inferred from direct assay
25947375 GOA
located in membrane IDA
IDA: Inferred from direct assay
25947375 GOA
part of phospholipid-translocating ATPase complex IDA
IDA: Inferred from direct assay
25947375 GOA
part of phospholipid-translocating ATPase complex IPI
IPI: Inferred from physical interaction
25947375 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

ATP10B Protein Structure

E1-E2_ATPase

E1-E2_ATPase: E1-E2 ATPase (126 - 391)

HAD

HAD: haloacid dehalogenase-like hydrolase (430 - 1064)

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  • 1461 a.a.
Protein Preferred Names Protein Names

phospholipid-transporting ATPase VB

ATPase, class V, type 10B

Related Diseases

Diseases Alias
Waardenburg Syndrome, Type 4c

Waardenburg Syndrome Type 4c

WS4C

Waardenburg Syndrome Type Ivc

Waardenburg Syndrome With Hirschsprung Disease Type 4c

Waardenburg Syndrome With Hirschsprung Disease, Type 4c

Waardenburg Syndrome, Type Ivc

Waardenburg Syndrome 4c

Hirschsprung Disease With Pigmentary Anomaly

Shah-Waardenburg Syndrome

Waardenburg-Shah Syndrome

Waardenburg Syndrome, Type 4a

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
Mus musculus ATP10B MGD MGI:2442688
Rattus norvegicus ATP10B RGD RGD:1565126
Felis catus ATP10B VGNC VGNC:102165
Macaca mulatta ATP10B VGNC VGNC:84281