Q9P1Q0 (VPS54_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 82.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Vacuolar protein sorting-associated protein 54 Alternative name(s): Hepatocellular carcinoma protein 8 Tumor antigen HOM-HCC-8 Tumor antigen SLP-8p | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 977 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| 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. Ref.6 |
| Subunit structure | Component of the Golgi-associated retrograde protein (GARP) complex, also called VFT (VPS fifty-three) complex, composed of VPS51, VPS52, VPS53 and VPS54. Ref.2 |
| Sequence similarities | Belongs to the VPS54 family. |
| Sequence caution | The sequence BAA92134.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Protein transport Transport |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | growth Inferred from electronic annotation. Source: Compara homeostasis of number of cells within a tissueInferred from electronic annotation. Source: Compara musculoskeletal movementInferred from electronic annotation. Source: Compara neurofilament cytoskeleton organizationInferred from electronic annotation. Source: Compara protein transportInferred from electronic annotation. Source: UniProtKB-KW retrograde transport, endosome to GolgiInferred from electronic annotation. Source: InterPro |
| Cellular_component | GARP complex Inferred from direct assay PubMed 19620288. Source: MGI |
| Complete GO annotation... | |
Alternative products
| This entry describes 5 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9P1Q0-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q9P1Q0-2) The sequence of this isoform differs from the canonical sequence as follows: 964-977: DLDLNMAEIWEQKR → IWT | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q9P1Q0-3) The sequence of this isoform differs from the canonical sequence as follows: 1-117: Missing. 118-126: TVYQQEISQ → MLPTKNRIK 380-415: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q9P1Q0-4) The sequence of this isoform differs from the canonical sequence as follows: 46-57: Missing. | ||||||
| Isoform 5 (identifier: Q9P1Q0-5) The sequence of this isoform differs from the canonical sequence as follows: 1-838: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 977 | 977 | Vacuolar protein sorting-associated protein 54 | PRO_0000148731 | |||||
Regions | |||||||||
| Coiled coil | 240 – 260 | 21 | Potential | ||||||
| Coiled coil | 480 – 507 | 28 | Potential | ||||||
| Coiled coil | 582 – 603 | 22 | Potential | ||||||
Amino acid modifications | |||||||||
| Modified residue | 541 | 1 | Phosphoserine By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 838 | 838 | Missing in isoform 5. | VSP_013751 | |||||
| Alternative sequence | 1 – 117 | 117 | Missing in isoform 3. | VSP_013752 | |||||
| Alternative sequence | 46 – 57 | 12 | Missing in isoform 4. | VSP_013753 | |||||
| Alternative sequence | 118 – 126 | 9 | TVYQQEISQ → MLPTKNRIK in isoform 3. | VSP_013754 | |||||
| Alternative sequence | 380 – 415 | 36 | Missing in isoform 3. | VSP_013755 | |||||
| Alternative sequence | 964 – 977 | 14 | DLDLN…WEQKR → IWT in isoform 2. | VSP_013756 | |||||
| Natural variant | 561 | 1 | S → C. Corresponds to variant rs34015596 [ dbSNP | Ensembl ]. | VAR_052944 | |||||
| Natural variant | 912 | 1 | M → I. Corresponds to variant rs11558741 [ dbSNP | Ensembl ]. | VAR_061983 | |||||
Experimental info | |||||||||
| Sequence conflict | 130 | 1 | I → V in AAF37319. Ref.1 | ||||||
| Sequence conflict | 526 | 1 | E → K in AAF37319. Ref.1 | ||||||
| Sequence conflict | 601 | 1 | E → G in AAF37319. Ref.1 | ||||||
| Sequence conflict | 643 | 1 | E → G in AAF37319. Ref.1 | ||||||
| Sequence conflict | 650 | 1 | E → A in AAF37319. Ref.1 | ||||||
| Sequence conflict | 677 – 679 | 3 | EER → VGG in AAF37319. Ref.1 | ||||||
| Sequence conflict | 727 | 1 | K → E in BAA92134. Ref.5 | ||||||
| Sequence conflict | 844 | 1 | D → G in AAH41868. Ref.4 | ||||||
| Sequence conflict | 904 | 1 | L → H in AAH41868. Ref.4 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "HOM-HCC-8, a novel tumor antigen associated with hepatocellular carcinoma." Stenner-Liewen F., Luo G., Tuereci O., Sahin U., Liewen H., Koslowski M., Pfreundschuh M. Submitted (OCT-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). Tissue: Hepatoma. |
| [2] | "Characterization of the human GARP (Golgi associated retrograde protein) complex." Liewen H., Meinhold-Heerlein I., Oliveira V., Schwarzenbacher R., Luo G., Wadle A., Jung M., Pfreundschuh M., Stenner-Liewen F. Exp. Cell Res. 306:24-34(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBUNIT. |
| [3] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5). Tissue: Testis. |
| [4] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4). Tissue: Skin and Testis. |
| [5] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 579-977. Tissue: Placenta. |
| [6] | "Requirement of the human GARP complex for mannose 6-phosphate-receptor-dependent sorting of cathepsin D to lysosomes." Perez-Victoria F.J., Mardones G.A., Bonifacino J.S. Mol. Biol. Cell 19:2350-2362(2008) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION. |
| [7] | "Ang2/fat-free is a conserved subunit of the Golgi-associated retrograde protein complex." Perez-Victoria F.J., Schindler C., Magadan J.G., Mardones G.A., Delevoye C., Romao M., Raposo G., Bonifacino J.S. Mol. Biol. Cell 21:3386-3395(2010) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH VPS51. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF102177 mRNA. Translation: AAF37319.1. AY444798 mRNA. Translation: AAS20945.1. AL137604 mRNA. Translation: CAB70837.1. AL359939 mRNA. Translation: CAB95772.1. CR749701 mRNA. Translation: CAH18479.1. BC030275 mRNA. Translation: AAH30275.1. BC041868 mRNA. Translation: AAH41868.1. AK002205 mRNA. Translation: BAA92134.1. Different initiation. |
| IPI | IPI00163718. IPI00480073. IPI00555893. IPI00555953. IPI00556232. |
| PIR | T46308. |
| RefSeq | NP_001005739.1. NM_001005739.1. NP_057600.2. NM_016516.2. |
| UniGene | Hs.48499. |
3D structure databases | |
| ProteinModelPortal | Q9P1Q0. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9P1Q0. 2 interactions. |
| STRING | 9606.ENSP00000272322. |
PTM databases | |
| PhosphoSite | Q9P1Q0. |
Polymorphism databases | |
| DMDM | 82583721. |
Proteomic databases | |
| PaxDb | Q9P1Q0. |
| PRIDE | Q9P1Q0. |
Protocols and materials databases | |
| DNASU | 51542. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000272322; ENSP00000272322; ENSG00000143952. ENST00000354504; ENSP00000346499; ENSG00000143952. ENST00000409558; ENSP00000386980; ENSG00000143952. ENST00000416400; ENSP00000414725; ENSG00000143952. ENST00000483277; ENSP00000445040; ENSG00000143952. |
| GeneID | 51542. |
| KEGG | hsa:51542. |
| UCSC | uc002scn.3. human. uc002sco.3. human. uc002scp.3. human. uc002scq.3. human. |
Organism-specific databases | |
| CTD | 51542. |
| GeneCards | GC02M064119. |
| HGNC | HGNC:18652. VPS54. |
| MIM | 614633. gene. |
| neXtProt | NX_Q9P1Q0. |
| PharmGKB | PA134920394. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG285553. |
| HOVERGEN | HBG068681. |
| InParanoid | Q9P1Q0. |
| OMA | HSFRHLG. |
Gene expression databases | |
| Bgee | Q9P1Q0. |
| CleanEx | HS_VPS54. |
| Genevestigator | Q9P1Q0. |
| GermOnline | ENSG00000143952. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR019515. Vacuolar_sorting-assoc_54. IPR012501. Vps54. [Graphical view] |
| Pfam | PF10475. DUF2450. 1 hit. PF07928. Vps54. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 51542. |
| NextBio | 55313. |
| SOURCE | Search... |
Entry information
| Entry name | VPS54_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9P1Q0 Secondary accession number(s): Q5VIR5 Q9NUJ0 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 2 Human chromosome 2: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
