ATP8B4 - ATPase phospholipid transporting 8B4 (putative) Gene

Also Known as ATPIM

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 79895

About ATP8B4

Cytogenetic location: 15q21.2 Genomic coordinates (GRCh38): 15:49,858,238-50,181,854 (from NCBI)

This gene has 19 transcripts (splice variants), 194 orthologues and 13 paralogues. Broad expression in bone marrow (RPKM 8.4), placenta (RPKM 2.4) and 14 other tissues.

Summary

This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

ATP8B4 Products (1)

mRNA Protein Name
NM_024837.4 NP_079113.2 probable phospholipid-transporting ATPase IM
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
20947505 GOA
Cellular Component GO Annotation Evidence References Source
located in Golgi apparatus IDA
IDA: Inferred from direct assay
20947505 GOA
part of phospholipid-translocating ATPase complex IPI
IPI: Inferred from physical interaction
20961850 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
20947505 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

ATP8B4 Protein Structure

E1-E2_ATPase

E1-E2_ATPase: E1-E2 ATPase (84 - 349)

HAD

HAD: haloacid dehalogenase-like hydrolase (389 - 824)

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  • 1192 a.a.
Protein Preferred Names Protein Names

probable phospholipid-transporting ATPase IM

  • ATPase, class I, type 8B, member 4

ATP8B4 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ATP8B4 Q8TF62 TMEM30A Homo sapiens Q9NV96 20961850
Intra
ATP8B4 Q8TF62 TMEM30A Homo sapiens Q9NV96 20961850
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Intellectual Developmental Disorder, X-Linked 109
  • Fraxe Syndrome

  • Fragile Xe Syndrome

  • Mental Retardation, X-Linked, Fraxe Type

  • XLID109

  • Mrx109

  • Mental Retardation, X-Linked, Associated With Fragile Site Fraxe

  • Fraxe Mental Retardation Syndrome

  • X-Linked Intellectual Developmental Disorder 109

  • Fraxe Intellectual Disability

  • Fraxe

  • Mental Retardation, X-Linked 109

  • Fragile Site On Chromosome Xq28

  • Fragile Site, Folic Acid Type

  • X-Linked Intellectual Disability Associated With Fragile Site Fraxe

  • Fraxe Intellectual Deficit

  • Intellectual Disability Associated With Fragile Site Fraxe

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 ATP8B4 RGD RGD:1306712
Canis familiaris ATP8B4 VGNC VGNC:59104
Macaca mulatta ATP8B4 VGNC VGNC:84311
Mus musculus ATP8B4 MGD MGI:1859664
Felis catus ATP8B4 VGNC VGNC:81033
Others ATP8B4 NCBI