Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
27072
Gene name Gene Name - the full gene name approved by the HGNC.
VPS41 subunit of HOPS complex
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
VPS41
Synonyms (NCBI Gene) Gene synonyms aliases
HVPS41, HVSP41, SCAR29, hVps41p
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p14.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605485 12713 ENSG00000006715
Protein
UniProt ID 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
 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer and/or colorectal cancer N/A N/A GWAS
Neuroticism Neuroticism N/A N/A GWAS
Spinocerebellar Ataxia spinocerebellar ataxia, autosomal recessive 29 N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Lymphoma Primary Effusion Associate 21685375
Neoplasms Associate 21685375