1. Gene
  2. CHMP5 - charged multivesicular body protein 5 Gene

CHMP5 - charged multivesicular body protein 5 Gene

Homo sapiens

Also known as Vps60; CGI-34; PNAS-2; C9orf83; HSPC177; SNF7DC2

Gene ID: 51510 | Gene type: protein coding

About CHMP5

Cytogenetic location: 9p13.3 Genomic coordinates (GRCh38): 9:33,265,049-33,282,070 (from NCBI)

This gene has 3 transcripts (splice variants), 290 orthologues and 4 paralogues. Ubiquitous expression in colon (RPKM 33.4), thyroid (RPKM 32.0) and 25 other tissues.

Summary

CHMP5 belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface Receptor Proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]

CHMP5 Products(2)

mRNA Protein Name
NM_001195536.2 NP_001182465.1 charged multivesicular body protein 5 isoform 2
NM_016410.6 NP_057494.3 charged multivesicular body protein 5 isoform 1

CHMP5 Protein Structure

Snf7

Snf7: Snf7 (13 - 195)

  • 0
  • 100
  • 200
  • 219 a.a.
Protein Preferred Names Protein Names

charged multivesicular body protein 5

SNF7 domain containing 2

Related Diseases

Diseases Alias
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

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
Canis familiaris CHMP5 VGNC VGNC:103666
Macaca mulatta CHMP5 VGNC VGNC:103250
Felis catus CHMP5 VGNC VGNC:60865
Mus musculus CHMP5 MGD MGI:1924209
Rattus norvegicus CHMP5 RGD RGD:1305968
Bos taurus CHMP5 VGNC VGNC:27304