Human Gene VPS25 (uc002ibi.3) Description and Page Index
Description: Homo sapiens vacuolar protein sorting 25 homolog (S. cerevisiae) (VPS25), mRNA. RefSeq Summary (NM_032353): This gene encodes a protein that is a subunit of the endosomal sorting complex required for transport II (ESCRT-II). This protein complex functions in sorting of ubiquitinated membrane proteins during endocytosis. A pseudogene of this gene is present on chromosome 1. [provided by RefSeq, Jul 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC006282.2, SRR5189658.41531.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000253794.7/ ENSP00000253794.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr17:40,925,454-40,931,617 Size: 6,164 Total Exon Count: 6 Strand: + Coding Region Position: hg19 chr17:40,925,494-40,931,087 Size: 5,594 Coding Exon Count: 6
ID:VPS25_HUMAN DESCRIPTION: RecName: Full=Vacuolar protein-sorting-associated protein 25; Short=hVps25; AltName: Full=Dermal papilla-derived protein 9; AltName: Full=ELL-associated protein of 20 kDa; AltName: Full=ESCRT-II complex subunit VPS25; FUNCTION: Component of the ESCRT-II complex (endosomal sorting complex required for transport II), which is required for multivesicular body (MVB) formation and sorting of endosomal cargo proteins into MVBs. The MVB pathway mediates delivery of transmembrane proteins into the lumen of the lysosome for degradation. The ESCRT-II complex is probably involved in the recruitment of the ESCRT-III complex. The ESCRT-II complex may also play a role in transcription regulation, possibly via its interaction with ELL. The ESCRT-II complex may be involved in facilitating the budding of certain RNA viruses. SUBUNIT: Component of a complex at least composed of ELL, SNF8/EAP30, VPS25/EAP20 and VPS36/EAP45 (By similarity). Component of the endosomal sorting complex required for transport II (ESCRT- II), composed of SNF8, VPS36 and 2 copies of VPS25. Interacts with CFTR; the interaction requires misfolded CFTR. Interacts (via C- terminal half) with the ESCRT-III subunit CHMP6 (via N-terminal half). SUBCELLULAR LOCATION: Cytoplasm. Endosome membrane. Nucleus, nucleoplasm. Note=Distributes diffusely throughout the cytoplasm and nucleoplasm, but exhibits a punctate distribution on coexpression with CHMP6. TISSUE SPECIFICITY: Expressed at the mRNA level in kidney, liver, pancreas, and placenta. Lower levels of expression are found in heart, skeletal muscle, brain and lung. SIMILARITY: Belongs to the VPS25 family.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): VPS25 CDC HuGE Published Literature: VPS25
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9BRG1
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0007175 negative regulation of epidermal growth factor-activated receptor activity GO:0015031 protein transport GO:0016197 endosomal transport GO:0016236 macroautophagy GO:0036258 multivesicular body assembly GO:0043328 protein targeting to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway GO:0071985 multivesicular body sorting pathway