Human Gene VPS54 (ENST00000272322.9) from GENCODE V39
Description: Homo sapiens VPS54 subunit of GARP complex (VPS54), transcript variant 1, mRNA. (from RefSeq NM_016516) RefSeq Summary (NM_016516): This gene encodes for a protein that in yeast forms part of a trimeric vacuolar-protein-sorting complex that is required for retrograde transport of proteins from prevacuoles to the late Golgi compartment. As in yeast, mammalian Vps54 proteins contain a coiled-coil region and dileucine motifs. Alternative splicing results in multiple transcript variants encoding different isoforms [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000272322.9 Gencode Gene: ENSG00000143952.20 Transcript (Including UTRs) Position: hg38 chr2:63,892,150-64,019,428 Size: 127,279 Total Exon Count: 23 Strand: - Coding Region Position: hg38 chr2:63,893,430-63,983,999 Size: 90,570 Coding Exon Count: 22
ID:VPS54_HUMAN DESCRIPTION: RecName: Full=Vacuolar protein sorting-associated protein 54; AltName: Full=Hepatocellular carcinoma protein 8; AltName: Full=Tumor antigen HOM-HCC-8; AltName: Full=Tumor antigen SLP-8p; FUNCTION: May be involved in retrograde transport from early and late endosomes to the late Golgi. The GARP complex is required for the maintenance of the cycling of mannose 6-phosphate receptors between the TGN and endosomes, this cycling is necessary for proper lysosomal sorting of acid hydrolases such as CTSD. SUBUNIT: Component of the Golgi-associated retrograde protein (GARP) complex, also called VFT (VPS fifty-three) complex, composed of VPS51, VPS52, VPS53 and VPS54. SIMILARITY: Belongs to the VPS54 family. SEQUENCE CAUTION: Sequence=BAA92134.1; Type=Erroneous initiation;
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.
Pfam Domains: PF10475 - Vacuolar-sorting protein 54, of GARP complex PF07928 - Vps54-like protein
ModBase Predicted Comparative 3D Structure on Q9P1Q0
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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.
R-HSA-6811431 RAB6:GTP binds the GARP and COG complexes, t-SNAREs and endosome-derived vesicles R-HSA-6814674 Tethering of late endosome-derived vesicles by GARP, STX10:ST16:VTI1A and Golgins R-HSA-6811440 Retrograde transport at the Trans-Golgi-Network R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic R-HSA-199991 Membrane Trafficking R-HSA-5653656 Vesicle-mediated transport