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  2. VPS41 - VPS41 subunit of HOPS complex Gene

VPS41 - VPS41 subunit of HOPS complex Gene

Homo sapiens

Also known as HVPS41; HVSP41; SCAR29; hVps41p

Gene ID: 27072 | Gene type: protein coding

About VPS41

Cytogenetic location: 7p14.1 Genomic coordinates (GRCh38): 7:38,722,974-38,909,191 (from NCBI)

This gene has 14 transcripts (splice variants), 209 orthologues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 18.7), gall bladder (RPKM 13.0) and 25 other tissues.

Summary

Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human ortholog of yeast Vps41 protein which is also conserved in Drosophila, tomato, and Arabidopsis. Expression studies in yeast and human indicate that this protein may be involved in the formation and fusion of transport vesicles from the Golgi. Several transcript variants encoding different isoforms have been described for this gene, however, the full-length nature of not all is known. [provided by RefSeq, Jul 2008]

VPS41 Products(2)

mRNA Protein Name
NM_014396.4 NP_055211.2 vacuolar protein sorting-associated protein 41 homolog isoform 1
NM_080631.4 NP_542198.2 vacuolar protein sorting-associated protein 41 homolog isoform 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
24210660 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
19109425 GOA
Biological Process GO Annotation Evidence Reference Source
involved in Golgi vesicle transport IMP
IMP: Inferred from mutant phenotype
11412045 GOA
involved in endosomal vesicle fusion IMP
IMP: Inferred from mutant phenotype
23167963 GOA
involved in endosome to lysosome transport IMP
IMP: Inferred from mutant phenotype
25783203 GOA
involved in late endosome to lysosome transport IMP
IMP: Inferred from mutant phenotype
23167963 GOA
involved in vesicle-mediated transport IMP
IMP: Inferred from mutant phenotype
33851776 GOA
Cellular Component GO Annotation Evidence Reference Source
part of AP-3 adaptor complex IDA
IDA: Inferred from direct assay
21411634 GOA
located in Golgi-associated vesicle IMP
IMP: Inferred from mutant phenotype
11412045 GOA
part of HOPS complex IDA
IDA: Inferred from direct assay
19109425 GOA
part of HOPS complex IMP
IMP: Inferred from mutant phenotype
33851776 GOA
part of clathrin complex IDA
IDA: Inferred from direct assay
21411634 GOA
located in clathrin-coated vesicle IDA
IDA: Inferred from direct assay
21411634 GOA
located in cytosol IDA
IDA: Inferred from direct assay
11412045 GOA
located in endosome membrane IDA
IDA: Inferred from direct assay
21411634 GOA
located in late endosome IDA
IDA: Inferred from direct assay
33422265 GOA
located in late endosome membrane IDA
IDA: Inferred from direct assay
23167963 GOA
part of lysosomal HOPS complex IDA
IDA: Inferred from direct assay
21802320 GOA
located in lysosomal membrane IDA
IDA: Inferred from direct assay
23167963 GOA
located in lysosome IDA
IDA: Inferred from direct assay
21802320 GOA
located in membrane IDA
IDA: Inferred from direct assay
11412045 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

VPS41 Protein Structure

Clathrin

Clathrin: Region in Clathrin and VPS (573 - 710)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 854 a.a.
Protein Preferred Names Protein Names

vacuolar protein sorting-associated protein 41 homolog

S53

VPS41 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
VPS41 P49754 VPS18 Homo sapiens Q9P253
Anti Tag CoIP
33961781
Intra
VPS41 P49754 VPS18 Homo sapiens Q9P253
Anti Tag CoIP
35271311
Intra
VPS41 P49754 VPS11 Homo sapiens Q9H270
Anti Tag CoIP
33961781
Intra
VPS41 P49754 VPS11 Homo sapiens Q9H270
Anti Tag CoIP
25500191
Intra
VPS41 P49754 PLEKHM1 Homo sapiens Q9Y4G2
Anti Tag CoIP
25500191
Intra
VPS41 P49754 STX17 Homo sapiens P56962
Anti Tag CoIP
33422265
Intra
VPS41 P49754 VIPAS39 Homo sapiens Q9H9C1
Anti Tag CoIP
19109425
Intra
VPS41 P49754 VIPAS39 Homo sapiens Q9H9C1
Anti Bait CoIP
19109425
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Spinocerebellar Ataxia, Autosomal Recessive 29

SCAR29

Barakat-Van Ham-Kaya Syndrome

Bavahaka

Neurodevelopmental Disorder With Hypotonia And Cerebellar Ataxia

Nedhca

Spinocerebellar Ataxia, Autosomal Recessive, 29

Spinocerebellar Ataxia, Autosomal Recessive 4

SCAR4

Scasi

Spinocerebellar Ataxia With Saccadic Intrusions

Autosomal Recessive Cerebellar Ataxia-Saccadic Intrusion Syndrome

Spinocerebellar Ataxia 24

Autosomal Recessive Spinocerebellar Ataxia 4

Sca24

Spinocerebellar Ataxia 24, Formerly

Sca24, Formerly

Spinocerebellar Ataxia Autosomal Recessive 4

Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome

Chromosome 1q21.1 Duplication Syndrome

1q21.1 Microduplication Syndrome

Trisomy 1q21.1

1q21.1 Duplication Syndrome

1q21.1 Microduplication

1q21.1 Duplication

Dup(1)(Q21.1)

Atypical Neurofibroma
Cockayne Syndrome A

Cockayne Syndrome Type 1

Cockayne Syndrome, Type A

Cockayne Syndrome Type I

CSA

Cockayne Syndrome Classic Form

Cockayne Syndrome Classical

Cockayne Syndrome Type A

Ckn1

Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia

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 VPS41 RGD RGD:1560511
Canis familiaris VPS41 VGNC VGNC:48291
Macaca mulatta VPS41 VGNC VGNC:78776
Felis catus VPS41 VGNC VGNC:66968
Mus musculus VPS41 MGD MGI:1929215
Bos taurus VPS41 VGNC VGNC:36823