1. Gene
  2. VPS4B - vacuolar protein sorting 4 homolog B Gene

VPS4B - vacuolar protein sorting 4 homolog B Gene

Homo sapiens

Also known as MIG1; SKD1; SKD1B; VPS4-2

Gene ID: 9525 | Gene type: protein coding

About VPS4B

Cytogenetic location: 18q21.33 Genomic coordinates (GRCh38): 18:63,389,190-63,422,476 (from NCBI)

This gene has 7 transcripts (splice variants), 263 orthologues, 9 paralogues and is associated with 1 phenotype. Ubiquitous expression in esophagus (RPKM 35.7), colon (RPKM 23.8) 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. Mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be a 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 18; the gene for the other resides on chromosome 16. [provided by RefSeq, Jul 2008]

VPS4B Products(1)

mRNA Protein Name
NM_004869.4 NP_004860.2 vacuolar protein sorting-associated protein 4B

VPS4B Protein Structure

MIT

MIT: MIT (microtubule interacting and transport) domain (8 - 76)

AAA

AAA: ATPase family associated with various cellular activities (AAA) (170 - 300)

Vps4_C

Vps4_C: Vps4 C terminal oligomerisation domain (381 - 441)

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  • 444 a.a.
Protein Preferred Names Protein Names

vacuolar protein sorting-associated protein 4B

cell migration-inducing 1

Related Diseases

Diseases Alias
Dentin Dysplasia, Type I

Radicular Dentin Dysplasia

DTDP1

Rootless Teeth

Dentin Dysplasia Type I

Dd-I

Dentin Dysplasia Shields Type I

Dentin Dysplasia, Shields Type I

Dentin Dysplasia, Type I, With Microdontia And Misshapen Teeth

Dentin Dysplasia, Type 1

Atypical Dentin Dysplasia Due To Smoc2 Deficiency

Dentin Dysplasia Type 1 With Microdontia And Shape Anomalies

Dentin Dysplasia, Radicular

Dentin Dysplasia 1

Dentin Dysplasia 1, With Extreme Microdontia And Misshapen Teeth

DTDP1-MMT

Dentin Dysplasia, Type I, With Extreme Microdontia And Misshapen Teeth

Dysplasia, Dentin, Type I

Dentin Dysplasia

Dentinal Dysplasia

Dd

Dysplasia, Dentin

Shell Teeth

Meckel Syndrome, Type 6

Meckel Syndrome 6

MKS6

Meckel-Gruber Syndrome, Type 6

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 VPS4B RGD RGD:1305969
Bos taurus VPS4B VGNC VGNC:36825
Canis familiaris VPS4B VGNC VGNC:48293
Felis catus VPS4B VGNC VGNC:66970
Mus musculus VPS4B MGD MGI:1100499
Macaca mulatta VPS4B VGNC VGNC:78555