Gene Gene information from NCBI Gene database.
Entrez ID 27072
Gene name VPS41 subunit of HOPS complex
Gene symbol VPS41
Synonyms (NCBI Gene)
HVPS41HVSP41SCAR29hVps41p
Chromosome 7
Chromosome location 7p14.1
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 vacuol
miRNA miRNA information provided by mirtarbase database.
406
miRTarBase ID miRNA Experiments Reference
MIRT052120 hsa-let-7b-5p CLASH 23622248
MIRT048028 hsa-miR-148a-3p CLASH 23622248
MIRT632253 hsa-miR-652-3p HITS-CLIP 23824327
MIRT632251 hsa-miR-4714-3p HITS-CLIP 23824327
MIRT632250 hsa-miR-6736-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
57
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 19109425, 21802320, 23901104, 23918659, 24554770, 25445562, 25500191, 26496610, 28325809, 33422265, 33452816, 33845483, 33961781, 34232536, 35271311, 37821429
GO:0005737 Component Cytoplasm IEA
GO:0005764 Component Lysosome IDA 21802320
GO:0005764 Component Lysosome IEA
GO:0005765 Component Lysosomal membrane HDA 17897319
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605485 12713 ENSG00000006715
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P49754
Protein name Vacuolar protein sorting-associated protein 41 homolog (S53)
Protein function Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Acts as a component of the HOPS endosomal tethering complex. This complex is proposed to be involv
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00637 Clathrin 571 711 Region in Clathrin and VPS Family
Tissue specificity TISSUE SPECIFICITY: Expressed in cerebral cortex and cerebellum. Highly expressed in Purkinje cells. {ECO:0000269|PubMed:33764426}.
Sequence
MAEAEEQETGSLEESTDESEEEESEEEPKLKYERLSNGVTEILQKDAASCMTVHDKFLAL
GTHYGKVYLLDVQGNITQKFDVSPVKINQISLDESGEHMGVCSEDGKVQVFGLYSGEEFH
ETFDCPIKIIAVHPHFVRSSCKQFVTGGKKLLLFERSWMNRWKSAVLHEGEGNIRSVKWR
GHLIAWANNMGVKIFDIISKQRITNVPRDDISLRPDMYPCSLCWKDNVTLIIGWGTSVKV
CSVKERHASEMRDLPSRYVEIVSQFETEFYISGLAPLCDQLVVLSYVKEISEKTEREYCA
RPRLDIIQPLSETCEEISSDALTVRGFQENECRDYHLEYSEGESLFYIVSPRDVVVAKER
DQDDHIDWLLEKKKYEEALMAAEISQKNIKRHKILDIGLAYINHLVERGDYDIAARKCQK
ILGKNAALWEYEVYKFKEIGQLKAISPYLPRGDPVLKPLIYEMILHEFLESDYEGFATLI
REWPGDLYNNSVIVQAVRDHLKKDSQNKTLLKTLAELYTYDKNYGNALEIYLTLRHKDVF
QLIHKHNLFSSIKDKIVLLMDFDSEKAVDMLLDNEDKISIKKVVEELEDRPELQHVYLHK
LFKRDHHKGQRYHEKQISLYAEYDRPNLLPFLRDSTHCPLEKALEICQQRNFVEETVYLL
SRMGNSRSALKMIMEELHDVDKAIEFAKEQDDGELWEDLILYSIDKPPFIT
GLLNNIGTH
VDPILLIHRIKEGMEIPNLRDSLVKILQDYNLQILLREGCKKILVADSLSLLKKMHRTQM
KGVLVDEENICESCLSPILPSDAAKPFSVVVFHCRHMFHKECLPMPSMNSAAQFCNICSA
KNRGPGSAILEMKK
Sequence length 854
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Autophagy - animal
Efferocytosis
Salmonella infection
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
14
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hyperimmunoglobulin D with periodic fever Likely pathogenic rs544223875 RCV004813176
Spinocerebellar ataxia, autosomal recessive 29 Pathogenic; Likely pathogenic rs2116102196, rs544223875, rs1246628003, rs1220530084, rs199716160, rs1244049089, rs759692686 RCV001375925
RCV001530966
RCV001530967
RCV001530968
RCV001530969
RCV001530970
RCV003225793
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs112468126 RCV005922346
Sarcoma Benign rs112468126 RCV005922347
Thymoma Uncertain significance rs144271652 RCV005932300
Thyroid cancer, nonmedullary, 1 Uncertain significance rs376616603 RCV005931035
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Lymphoma Primary Effusion Associate 21685375
Neoplasms Associate 21685375