ATP10D - ATPase phospholipid transporting 10D (putative) Gene

Also Known as ATPVD

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57205

About ATP10D

Cytogenetic location: 4p12 Genomic coordinates (GRCh38): 4:47,485,275-47,593,486 (from NCBI)

This gene has 7 transcripts (splice variants), 226 orthologues and 13 paralogues. Ubiquitous expression in placenta (RPKM 7.9), skin (RPKM 7.8) and 25 other tissues.

Summary

Enables glycosylceramide flippase activity. Predicted to be involved in phospholipid translocation. Located in endoplasmic reticulum; nucleoplasm; and plasma membrane. Is integral component of plasma membrane. Part of phospholipid-translocating ATPase complex. [provided by Alliance of Genome Resources, Apr 2022]

ATP10D Products (1)

mRNA Protein Name
NM_020453.4 NP_065186.3 phospholipid-transporting ATPase VD
Molecular Function GO Annotation Evidence References Source
enables glycosylceramide flippase activity IDA
IDA: Inferred from direct assay
30530492 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
21914794 GOA
Cellular Component GO Annotation Evidence References Source
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
21914794 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
located in plasma membrane IDA
IDA: Inferred from direct assay
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

ATP10D Protein Structure

E1-E2_ATPase

E1-E2_ATPase: E1-E2 ATPase (127 - 396)

HAD

HAD: haloacid dehalogenase-like hydrolase (436 - 1065)

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  • 1426 a.a.
Protein Preferred Names Protein Names

phospholipid-transporting ATPase VD

  • ATPase, class V, type 10D

Related Diseases

Diseases Alias
Leukoencephalopathy, Cystic, Without Megalencephaly
  • Cystic Leukoencephalopathy Without Megalencephaly

  • Rnaset2-Deficient Cystic Leukoencephalopathy

  • Rnase T2-Deficient Leukoencephalopathy

  • Clwm

  • Leukoencephalopathy With Bilateral Anterior Temporal Lobe Cysts

  • Infantile-Onset Rnaset2 Deficient Cystic Leukoencephalopathy

  • Lbatc

  • LCWM

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
Rattus norvegicus ATP10D RGD RGD:1588541
Felis catus ATP10D VGNC VGNC:107312
Bos taurus ATP10D VGNC VGNC:55156
Macaca mulatta ATP10D VGNC VGNC:100201
Canis familiaris ATP10D VGNC VGNC:55155
Mus musculus ATP10D MGD MGI:2450125
Others ATP10D NCBI