1. Gene
  2. ATP10D - ATPase phospholipid transporting 10D (putative) Gene

ATP10D - ATPase phospholipid transporting 10D (putative) Gene

Homo sapiens

Also known as ATPVD

Gene ID: 57205 | Gene type: protein coding

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

ATP10D Protein Structure

E1-E2_ATPase

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

HAD

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

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 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