VPS4A - vacuolar protein sorting 4 homolog A Gene

Homo sapiens

Also known as SKD1; SKD2; VPS4; SKD1A; CIMDAG; VPS4-1

Gene ID: 27183 | Gene type: protein coding

About VPS4A

Cytogenetic location: 16q22.1 Genomic coordinates (GRCh38): 16:69,311,350-69,326,939 (from NCBI)

This gene has 4 transcripts (splice variants), 213 orthologues, 9 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 45.1), fat (RPKM 36.4) and 25 other tissues.

Summary

The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein. In humans, two paralogs of the yeast protein have been identified. The former share a high degree of aa sequence similarity with each Other, and also with yeast Vps4 and mouse Skd1 proteins. The mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be really an yeast Vps4 ortholog. Functional studies indicate that both human paralogs associate with the endosomal compartments, and are involved in intracellular protein trafficking, similar to Vps4 protein in yeast. The gene encoding this paralog has been mapped to chromosome 16; the gene for the Other resides on chromosome 18. [provided by RefSeq, Jul 2008]

VPS4A Products(1)

mRNA	Protein	Name
NM_013245.3	NP_037377.1	vacuolar protein sorting-associated protein 4A

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	11559748	GOA
enables protein-containing complex binding	IPI IPI: Inferred from physical interaction	18606141	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in abscission	IMP IMP: Inferred from mutant phenotype	24814515	GOA
involved in cell division	IDA IDA: Inferred from direct assay	17853893	GOA
involved in endosomal transport	IMP IMP: Inferred from mutant phenotype	11559748	GOA
involved in endosomal vesicle fusion	IMP IMP: Inferred from mutant phenotype	15075231	GOA
involved in midbody abscission	IMP IMP: Inferred from mutant phenotype	20616062	GOA
involved in mitotic cytokinesis checkpoint signaling	IMP IMP: Inferred from mutant phenotype	24814515	GOA
involved in mitotic metaphase chromosome alignment	IMP IMP: Inferred from mutant phenotype	20616062	GOA
involved in negative regulation of cytokinesis	IMP IMP: Inferred from mutant phenotype	24814515	GOA
involved in nucleus organization	IMP IMP: Inferred from mutant phenotype	20616062	GOA
involved in positive regulation of exosomal secretion	IMP IMP: Inferred from mutant phenotype	22660413	GOA
involved in positive regulation of viral budding via host ESCRT complex	IMP IMP: Inferred from mutant phenotype	24878737	GOA
involved in protein targeting to lysosome	IMP IMP: Inferred from mutant phenotype	16973552	GOA
involved in regulation of protein localization	IMP IMP: Inferred from mutant phenotype	18005716	GOA
involved in regulation of protein localization to plasma membrane	IMP IMP: Inferred from mutant phenotype	24878737	GOA
involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IMP IMP: Inferred from mutant phenotype	22547407	GOA
involved in ubiquitin-independent protein catabolic process via the multivesicular body sorting pathway	IMP IMP: Inferred from mutant phenotype	22547407	GOA
involved in vesicle budding from membrane	IMP IMP: Inferred from mutant phenotype	15075231	GOA
involved in vesicle uncoating	IMP IMP: Inferred from mutant phenotype	15075231	GOA
involved in vesicle-mediated transport	IDA IDA: Inferred from direct assay	11563910	GOA
involved in viral budding from plasma membrane	IMP IMP: Inferred from mutant phenotype	16193069	GOA
involved in viral budding via host ESCRT complex	IGI IGI: Inferred from genetic interaction	24107264	GOA
involved in viral release from host cell	IMP IMP: Inferred from mutant phenotype	11595185	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Flemming body	IDA IDA: Inferred from direct assay	20616062	GOA
located in centrosome	IDA IDA: Inferred from direct assay	20616062	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	11563910	GOA
located in early endosome	IDA IDA: Inferred from direct assay	15075231	GOA
located in endosome	IDA IDA: Inferred from direct assay	17940959	GOA
located in endosome membrane	IMP IMP: Inferred from mutant phenotype	18606141	GOA
located in late endosome	IDA IDA: Inferred from direct assay	15075231	GOA
located in midbody	IDA IDA: Inferred from direct assay	17853893	GOA
located in nucleus	IDA IDA: Inferred from direct assay	20616062	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	11563910	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	17940959	GOA
located in spindle pole	IDA IDA: Inferred from direct assay	20616062	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

VPS4A Protein Structure

MIT

AAA

Vps4_C

0
100
200
300
400
437 a.a.

Protein Preferred Names

Protein Names

vacuolar protein sorting-associated protein 4A

SKD1-homolog

VPS4A Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	VPS4A	Q9UN37	CHMP1A	Homo sapiens	Q9HD42	Anti Tag CoIP	33961781
Intra	VPS4A	Q9UN37	CHMP1A	Homo sapiens	Q9HD42	Anti Tag CoIP	35271311
Intra	VPS4A	Q9UN37	CHMP1A	Homo sapiens	Q9HD42	Y2H	16730941
Intra	VPS4A	Q9UN37	CHMP1B	Homo sapiens	Q7LBR1	Y2H	16730941
Intra	VPS4A	Q9UN37	CHMP2A	Homo sapiens	O43633	Anti Tag CoIP	35271311
Intra	VPS4A	Q9UN37	CFTR	Homo sapiens	P13569	Ub Reconstruction	35156780

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Cimdag Syndrome

Cerebellar Hypoplasia-Intellectual Disability-Congenital Microcephaly-Dystonia-Anemia-Growth Retardation Syndrome	CIMDAG
Cerebellar Hypoplasia, Cataracts, Impaired Intellectual Development, Congenital Microcephaly, Dystonia, Dyserythropoietic Anemia, And Growth Retardation

Congenital Dyserythropoietic Anemia

Congenital Dyshaematopoietic Anaemia	Dyserythropoietic Anemia, Congenital
Cda	Anemia, Dyserythropoietic, Congenital
Anemia Dyserythropoietic Congenital	Cda - [Congenital Dyserythropoietic Anaemia]
Dyserythropoietic Dyshaematopoietic Congenital Anaemia	Dyshaematopoietic Anaemia
Dyserythropoietic Anaemia

Pontocerebellar Hypoplasia, Type 8

Pontocerebellar Hypoplasia Type 8	PCH8
Pontocerebellar Hypoplasia Due To Chmp1a Mutation	Pontocerebellar Hypoplasia 8
Hypoplasia, Pontocerebellar, Type 8

Meckel Syndrome, Type 6

Meckel Syndrome 6	MKS6
Meckel-Gruber Syndrome, Type 6

Developmental And Epileptic Encephalopathy 33

DEE33	Epileptic Encephalopathy, Early Infantile, 33
Eiee33	Developmental And Epileptic Encephalopathy, 33
Early Infantile Epileptic Encephalopathy 33	Encephalopathy, Epileptic, Early Infantile, Type 33

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7

Ftd3	Frontotemporal Dementia, Chromosome 3-Linked
Amyotrophic Lateral Sclerosis, Chmp2b-Related	Chromosome 3-Linked Frontotemporal Dementia
FTDALS7	Chmp2b-Related Frontotemporal Dementia
Amyotrophic Lateral Sclerosis 17, Formerly	Als17, Formerly
Amyotrophic Lateral Sclerosis Type 17	Dtm1
Ftd-3	Ftd-Chmp2b
Als17	Amyotrophic Lateral Sclerosis 17
Sclerosis, Lateral, Amyotrophic, Type 17	Dementia, Frontotemporal, Chromosome 3-Linked

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15693	VPS4A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	VPS4A	MGD	MGI:1890520
Felis catus	VPS4A	VGNC	VGNC:110164
Rattus norvegicus	VPS4A	RGD	RGD:628810
Canis familiaris	VPS4A	VGNC	VGNC:110108
Bos taurus	VPS4A	VGNC	VGNC:110076

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