CHMP4A - charged multivesicular body protein 4A Gene

Also Known as SNF7; CHMP4; SHAX2; CHMP4B; SNF7-1; VPS32A; HSPC134; VPS32-1; C14orf123

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 29082

About CHMP4A

Cytogenetic location: 14q12 Genomic coordinates (GRCh38): 14:24,209,615-24,213,488 (from NCBI)

This gene has 10 transcripts (splice variants), 1 gene allele, 77 orthologues and 4 paralogues. Ubiquitous expression in fat (RPKM 27.3), lymph node (RPKM 25.9) and 25 other tissues.

Summary

CHMP4A 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]

CHMP4A Products (1)

mRNA Protein Name
NM_014169.5 NP_054888.3 charged multivesicular body protein 4a
Molecular Function GO Annotation Evidence Références Source
enables ATPase binding IPI
IPI: Inferred from physical interaction
18209100 GOA
enables identical protein binding IPI
IPI: Inferred from physical interaction
18209100 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
14505570 GOA
enables protein homodimerization activity IPI
IPI: Inferred from physical interaction
14519844 GOA
Biological Process GO Annotation Evidence Références Source
involved in autophagosome maturation IMP
IMP: Inferred from mutant phenotype
17984323 GOA
involved in autophagy IMP
IMP: Inferred from mutant phenotype
17984323 GOA
involved in late endosome to lysosome transport IMP
IMP: Inferred from mutant phenotype
17984323 GOA
involved in membrane invagination IMP
IMP: Inferred from mutant phenotype
24878737 GOA
involved in midbody abscission IMP
IMP: Inferred from mutant phenotype
20616062 GOA
involved in mitotic metaphase chromosome alignment IMP
IMP: Inferred from mutant phenotype
20616062 GOA
involved in multivesicular body sorting pathway IDA
IDA: Inferred from direct assay
16554368 GOA
involved in multivesicular body sorting pathway IMP
IMP: Inferred from mutant phenotype
21975012 GOA
involved in nervous system process IMP
IMP: Inferred from mutant phenotype
21975012 GOA
involved in nuclear membrane reassembly IMP
IMP: Inferred from mutant phenotype
26040713 GOA
involved in nucleus organization IMP
IMP: Inferred from mutant phenotype
20616062 GOA
involved in plasma membrane repair IDA
IDA: Inferred from direct assay
24482116 GOA
involved in plasma membrane tubulation IGI
IGI: Inferred from genetic interaction
18209100 GOA
involved in plasma membrane tubulation IMP
IMP: Inferred from mutant phenotype
18209100 GOA
involved in post-translational protein targeting to endoplasmic reticulum membrane IMP
IMP: Inferred from mutant phenotype
21975012 GOA
involved in protein polymerization IMP
IMP: Inferred from mutant phenotype
18209100 GOA
involved in regulation of mitotic spindle assembly IMP
IMP: Inferred from mutant phenotype
20616062 GOA
involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway IDA
IDA: Inferred from direct assay
17984323 GOA
involved in vesicle budding from membrane IGI
IGI: Inferred from genetic interaction
18209100 GOA
involved in vesicle budding from membrane IMP
IMP: Inferred from mutant phenotype
18209100 GOA
involved in viral budding from plasma membrane IDA
IDA: Inferred from direct assay
24878737 GOA
involved in viral budding via host ESCRT complex IDA
IDA: Inferred from direct assay
24878737 GOA
involved in viral budding via host ESCRT complex IGI
IGI: Inferred from genetic interaction
24107264 GOA
Cellular Component GO Annotation Evidence Références Source
part of ESCRT III complex IDA
IDA: Inferred from direct assay
18209100 GOA
located in amphisome membrane IDA
IDA: Inferred from direct assay
17984323 GOA
located in autophagosome membrane IDA
IDA: Inferred from direct assay
17984323 GOA
located in cytoplasm IDA
IDA: Inferred from direct assay
21975012 GOA
located in cytoplasmic side of plasma membrane IDA
IDA: Inferred from direct assay
18209100 GOA
colocalizes with endosome IDA
IDA: Inferred from direct assay
24878737 GOA
located in kinetochore IDA
IDA: Inferred from direct assay
26040712 GOA
located in kinetochore microtubule IDA
IDA: Inferred from direct assay
26040712 GOA
located in lysosomal membrane IDA
IDA: Inferred from direct assay
17984323 GOA
part of membrane coat IMP
IMP: Inferred from mutant phenotype
24878737 GOA
located in midbody IDA
IDA: Inferred from direct assay
22724069 GOA
located in multivesicular body membrane IDA
IDA: Inferred from direct assay
16554368 GOA
part of nuclear pore IDA
IDA: Inferred from direct assay
26040713 GOA
located in nucleus IDA
IDA: Inferred from direct assay
21975012 GOA
colocalizes with plasma membrane IDA
IDA: Inferred from direct assay
24878737 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
24878737 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

CHMP4A Protein Structure

Snf7

Snf7: Snf7 (21 - 199)

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

charged multivesicular body protein 4a

  • SNF7 homolog associated with Alix-2

CHMP4A Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
CHMP4A Q9BY43 PDCD6IP Homo sapiens Q8WUM4 17350572
Intra
CHMP4A Q9BY43 SYT17 Homo sapiens Q9BSW7 16189514
Intra
CHMP4A Q9BY43 SYT17 Homo sapiens Q9BSW7 25416956
Intra
CHMP4A Q9BY43 CHMP4B Homo sapiens Q9H444
Y2H
16730941
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Cataract 31, Multiple Types
  • Cataract, Posterior Polar, 3

  • Ctpp3

  • Cataract 31 Multiple Types

  • CTRCT31

  • Cpp3

  • Posterior Polar Cataract 3

  • Cataract, Type 31, Multiple Types

Cataract 32, Multiple Types
  • Cataract, Posterior Polar, 5

  • Ctpp5

  • CTRCT32

  • Ctaa1

  • Cataract, Anterior Polar

  • Cap

  • Cataract 32 Multiple Types

  • Cataract, Anterior Polar, 1

  • Anterior Polar Cataract 1

  • Posterior Polar Cataract 5

  • Cataract, Anterior Polar 1

Cataract 16, Multiple Types
  • Cataract 16 Multiple Types

  • CTRCT16

  • Ctpp2

  • Cataract, Posterior Polar, 2

  • Posterior Polar Cataract 2

  • Cataract, Congenital Lamellar

  • Congenital Lamellar Cataract

Cataract 11, Multiple Types
  • Cataract, Posterior Polar, 4

  • Ctpp4

  • Cpp4

  • Cataract 11 Multiple Types

  • CTRCT11

  • Cataract 11, Syndromic, Autosomal Recessive

  • Cataract 11 With Microphthalmia And Neurodevelopmental Abnormalities

  • Posterior Polar Cataract 4

  • Posterior Polar Cataract, 4

  • Cataract Posterior Polar 4

  • Syndromic Cataract 11

  • Cataract, Type 11, Multiple Types

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