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VPS41 VPS41, HOPS complex subunit [ Homo sapiens (human) ]

Gene ID: 27072, updated on 2-Oct-2018

Summary

Official Symbol
VPS41provided by HGNC
Official Full Name
VPS41, HOPS complex subunitprovided by HGNC
Primary source
HGNC:HGNC:12713
See related
Ensembl:ENSG00000006715 MIM:605485; Vega:OTTHUMG00000023629
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HVPS41; HVSP41; hVps41p
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]
Expression
Ubiquitous expression in brain (RPKM 18.7), gall bladder (RPKM 13.0) and 25 other tissues See more
Orthologs

Genomic context

See VPS41 in Genome Data Viewer
Location:
7p14.1
Exon count:
31
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (38722975..38909200, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (38763543..38948800, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene keratin 8 pseudogene 20 Neighboring gene acyloxyacyl hydrolase (neutrophil) Neighboring gene POU6F2 antisense RNA 2 Neighboring gene POU class 6 homeobox 2 Neighboring gene uncharacterized LOC105375239 Neighboring gene small nucleolar RNA, H/ACA box 20B

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
microtubule binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein self-association IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
autophagy IEA
Inferred from Electronic Annotation
more info
 
endosomal vesicle fusion IMP
Inferred from Mutant Phenotype
more info
PubMed 
endosome to lysosome transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
intracellular protein transport IEA
Inferred from Electronic Annotation
more info
 
late endosome to lysosome transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulated exocytosis IEA
Inferred from Electronic Annotation
more info
 
regulation of SNARE complex assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vacuole fusion, non-autophagic IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with AP-3 adaptor complex IDA
Inferred from Direct Assay
more info
PubMed 
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
Golgi-associated vesicle IEA
Inferred from Electronic Annotation
more info
 
HOPS complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
HOPS complex IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with clathrin complex IDA
Inferred from Direct Assay
more info
PubMed 
clathrin-coated vesicle IDA
Inferred from Direct Assay
more info
PubMed 
early endosome IEA
Inferred from Electronic Annotation
more info
 
endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
late endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
late endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal membrane HDA PubMed 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
microtubule cytoskeleton IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
vacuolar protein sorting-associated protein 41 homolog
Names
S53
vacuolar assembly protein 41
vacuolar protein sorting 41 homolog

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_014396.3NP_055211.2  vacuolar protein sorting-associated protein 41 homolog isoform 1

    See identical proteins and their annotated locations for NP_055211.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the full-length isoform (1).
    Source sequence(s)
    AC004850, BC044851, U87309
    Consensus CDS
    CCDS5457.1
    UniProtKB/Swiss-Prot
    P49754
    Related
    ENSP00000309457.4, OTTHUMP00000135322, ENST00000310301.8, OTTHUMT00000226986
    Conserved Domains (3) summary
    smart00299
    Location:571708
    CLH; Clathrin heavy chain repeat homology
    sd00039
    Location:138169
    7WD40; WD40 repeat [structural motif]
    cd16690
    Location:787841
    RING-H2_Vps41; RING finger, H2 subclass, found in vacuolar protein sorting-associated protein 41 (Vps41) and similar proteins
  2. NM_080631.3NP_542198.2  vacuolar protein sorting-associated protein 41 homolog isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) is missing a sequence segment in the coding region compared to transcript variant 1. However, it maintains the same reading frame and encodes an isoform (2) which is 25 aa shorter than isoform 1.
    Source sequence(s)
    AC004850, BC044851, U87309
    Consensus CDS
    CCDS5458.2
    UniProtKB/Swiss-Prot
    P49754
    Related
    ENSP00000379297.2, OTTHUMP00000135323, ENST00000395969.6, OTTHUMT00000226987
    Conserved Domains (2) summary
    smart00299
    Location:546683
    CLH; Clathrin heavy chain repeat homology
    cd16690
    Location:762816
    RING-H2_Vps41; RING finger, H2 subclass, found in vacuolar protein sorting-associated protein 41 (Vps41) and similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    38722975..38909200 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011988.1XP_016867477.1  vacuolar protein sorting-associated protein 41 homolog isoform X1

RNA

  1. XR_926930.3 RNA Sequence

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