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

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

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		/	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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