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Q9P1Q0

- VPS54_HUMAN

UniProt

Q9P1Q0 - VPS54_HUMAN

Protein

Vacuolar protein sorting-associated protein 54

Gene

VPS54

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 95 (01 Oct 2014)
      Sequence version 2 (10 May 2005)
      Previous versions | rss
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    Functioni

    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.1 Publication

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. growth Source: Ensembl
    2. homeostasis of number of cells within a tissue Source: Ensembl
    3. musculoskeletal movement Source: Ensembl
    4. neurofilament cytoskeleton organization Source: Ensembl
    5. protein transport Source: UniProtKB-KW
    6. retrograde transport, endosome to Golgi Source: InterPro

    Keywords - Biological processi

    Protein transport, Transport

    Names & Taxonomyi

    Protein namesi
    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 namesi
    Name:VPS54
    Synonyms:HCC8
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:18652. VPS54.

    Subcellular locationi

    Golgi apparatustrans-Golgi network 1 Publication

    GO - Cellular componenti

    1. GARP complex Source: MGI

    Keywords - Cellular componenti

    Golgi apparatus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134920394.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 977977Vacuolar protein sorting-associated protein 54PRO_0000148731Add
    BLAST

    Proteomic databases

    MaxQBiQ9P1Q0.
    PaxDbiQ9P1Q0.
    PRIDEiQ9P1Q0.

    PTM databases

    PhosphoSiteiQ9P1Q0.

    Expressioni

    Gene expression databases

    BgeeiQ9P1Q0.
    CleanExiHS_VPS54.
    GenevestigatoriQ9P1Q0.

    Interactioni

    Subunit structurei

    Component of the Golgi-associated retrograde protein (GARP) complex, also called VFT (VPS fifty-three) complex, composed of VPS51, VPS52, VPS53 and VPS54.1 Publication

    Protein-protein interaction databases

    BioGridi119600. 5 interactions.
    IntActiQ9P1Q0. 2 interactions.
    STRINGi9606.ENSP00000272322.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9P1Q0.
    SMRiQ9P1Q0. Positions 843-974.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili240 – 26021Sequence AnalysisAdd
    BLAST
    Coiled coili480 – 50728Sequence AnalysisAdd
    BLAST
    Coiled coili582 – 60322Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the VPS54 family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG285553.
    HOVERGENiHBG068681.
    InParanoidiQ9P1Q0.
    KOiK17600.
    OMAiTKMHEAI.
    OrthoDBiEOG71RXHV.
    PhylomeDBiQ9P1Q0.
    TreeFamiTF313700.

    Family and domain databases

    InterProiIPR019515. Vacuolar_sorting-assoc_54.
    IPR012501. Vps54.
    [Graphical view]
    PfamiPF10475. DUF2450. 1 hit.
    PF07928. Vps54. 1 hit.
    [Graphical view]

    Sequences (5)i

    Sequence statusi: Complete.

    This entry describes 5 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9P1Q0-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MASSHSSSPV PQGSSSDVFF KIEVDPSKHI RPVPSLPDVC PKEPTGDSHS    50
    LYVAPSLVTD QHRWTVYHSK VNLPAALNDP RLAKRESDFF TKTWGLDFVD 100
    TEVIPSFYLP QISKEHFTVY QQEISQREKI HERCKNICPP KDTFERTLLH 150
    THDKSRTDLE QVPKIFMKPD FALDDSLTFN SVLPWSHFNT AGGKGNRDAA 200
    SSKLLQEKLS HYLDIVEVNI AHQISLRSEA FFHAMTSQHE LQDYLRKTSQ 250
    AVKMLRDKIA QIDKVMCEGS LHILRLALTR NNCVKVYNKL KLMATVHQTQ 300
    PTVQVLLSTS EFVGALDLIA TTQEVLQQEL QGIHSFRHLG SQLCELEKLI 350
    DKMMIAEFST YSHSDLNRPL EDDCQVLEEE RLISLVFGLL KQRKLNFLEI 400
    YGEKMVITAK NIIKQCVINK VSQTEEIDTD VVVKLADQMR MLNFPQWFDL 450
    LKDIFSKFTI FLQRVKATLN IIHSVVLSVL DKNQRTRELE EISQQKNAAK 500
    DNSLDTEVAY LIHEGMFISD AFGEGELTPI AVDTTSQRNA SPNSEPCSSD 550
    SVSEPECTTD SSSSKEHTSS SAIPGGVDIM VSEDMKLTDS ELGKLANNIQ 600
    ELLYSASDIC HDRAVKFLMS RAKDGFLEKL NSMEFITLSR LMETFILDTE 650
    QICGRKSTSL LGALQSQAIK FVNRFHEERK TKLSLLLDNE RWKQADVPAE 700
    FQDLVDSLSD GKIALPEKKS GATEERKPAE VLIVEGQQYA VVGTVLLLIR 750
    IILEYCQCVD NIPSVTTDML TRLSDLLKYF NSRSCQLVLG AGALQVVGLK 800
    TITTKNLALS SRCLQLIVHY IPVIRAHFEA RLPPKQYSML RHFDHITKDY 850
    HDHIAEISAK LVAIMDSLFD KLLSKYEVKA PVPSACFRNI CKQMTKMHEA 900
    IFDLLPEEQT QMLFLRINAS YKLHLKKQLS HLNVINDGGP QNGLVTADVA 950
    FYTGNLQALK GLKDLDLNMA EIWEQKR 977
    Length:977
    Mass (Da):110,589
    Last modified:May 10, 2005 - v2
    Checksum:i3290160E3460C836
    GO
    Isoform 2 (identifier: Q9P1Q0-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         964-977: DLDLNMAEIWEQKR → IWT

    Note: No experimental confirmation available.

    Show »
    Length:966
    Mass (Da):109,246
    Checksum:i7FA7C844A6026471
    GO
    Isoform 3 (identifier: Q9P1Q0-3) [UniParc]FASTAAdd to Basket

    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.

    Show »
    Length:824
    Mass (Da):93,274
    Checksum:i9EF51F039A9AD46A
    GO
    Isoform 4 (identifier: Q9P1Q0-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         46-57: Missing.

    Show »
    Length:965
    Mass (Da):109,362
    Checksum:iD91F94CD6CDC72D3
    GO
    Isoform 5 (identifier: Q9P1Q0-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-838: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:139
    Mass (Da):15,982
    Checksum:iF6AFBCDA077C7BB4
    GO

    Sequence cautioni

    The sequence BAA92134.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti130 – 1301I → V in AAF37319. 1 PublicationCurated
    Sequence conflicti526 – 5261E → K in AAF37319. 1 PublicationCurated
    Sequence conflicti601 – 6011E → G in AAF37319. 1 PublicationCurated
    Sequence conflicti643 – 6431E → G in AAF37319. 1 PublicationCurated
    Sequence conflicti650 – 6501E → A in AAF37319. 1 PublicationCurated
    Sequence conflicti677 – 6793EER → VGG in AAF37319. 1 PublicationCurated
    Sequence conflicti727 – 7271K → E in BAA92134. (PubMed:14702039)Curated
    Sequence conflicti844 – 8441D → G in AAH41868. (PubMed:15489334)Curated
    Sequence conflicti904 – 9041L → H in AAH41868. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti561 – 5611S → C.
    Corresponds to variant rs34015596 [ dbSNP | Ensembl ].
    VAR_052944
    Natural varianti912 – 9121M → I.
    Corresponds to variant rs11558741 [ dbSNP | Ensembl ].
    VAR_061983

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 838838Missing in isoform 5. 1 PublicationVSP_013751Add
    BLAST
    Alternative sequencei1 – 117117Missing in isoform 3. 1 PublicationVSP_013752Add
    BLAST
    Alternative sequencei46 – 5712Missing in isoform 4. 1 PublicationVSP_013753Add
    BLAST
    Alternative sequencei118 – 1269TVYQQEISQ → MLPTKNRIK in isoform 3. 1 PublicationVSP_013754
    Alternative sequencei380 – 41536Missing in isoform 3. 1 PublicationVSP_013755Add
    BLAST
    Alternative sequencei964 – 97714DLDLN…WEQKR → IWT in isoform 2. 1 PublicationVSP_013756Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS33208.1. [Q9P1Q0-1]
    CCDS46302.1. [Q9P1Q0-4]
    PIRiT46308.
    RefSeqiNP_001005739.1. NM_001005739.1. [Q9P1Q0-4]
    NP_057600.2. NM_016516.2. [Q9P1Q0-1]
    UniGeneiHs.48499.

    Genome annotation databases

    EnsembliENST00000272322; ENSP00000272322; ENSG00000143952. [Q9P1Q0-1]
    ENST00000354504; ENSP00000346499; ENSG00000143952. [Q9P1Q0-3]
    ENST00000409558; ENSP00000386980; ENSG00000143952. [Q9P1Q0-4]
    GeneIDi51542.
    KEGGihsa:51542.
    UCSCiuc002scn.3. human. [Q9P1Q0-5]
    uc002sco.3. human. [Q9P1Q0-3]
    uc002scp.3. human. [Q9P1Q0-4]
    uc002scq.3. human. [Q9P1Q0-1]

    Polymorphism databases

    DMDMi82583721.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSi CCDS33208.1. [Q9P1Q0-1 ]
    CCDS46302.1. [Q9P1Q0-4 ]
    PIRi T46308.
    RefSeqi NP_001005739.1. NM_001005739.1. [Q9P1Q0-4 ]
    NP_057600.2. NM_016516.2. [Q9P1Q0-1 ]
    UniGenei Hs.48499.

    3D structure databases

    ProteinModelPortali Q9P1Q0.
    SMRi Q9P1Q0. Positions 843-974.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119600. 5 interactions.
    IntActi Q9P1Q0. 2 interactions.
    STRINGi 9606.ENSP00000272322.

    PTM databases

    PhosphoSitei Q9P1Q0.

    Polymorphism databases

    DMDMi 82583721.

    Proteomic databases

    MaxQBi Q9P1Q0.
    PaxDbi Q9P1Q0.
    PRIDEi Q9P1Q0.

    Protocols and materials databases

    DNASUi 51542.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000272322 ; ENSP00000272322 ; ENSG00000143952 . [Q9P1Q0-1 ]
    ENST00000354504 ; ENSP00000346499 ; ENSG00000143952 . [Q9P1Q0-3 ]
    ENST00000409558 ; ENSP00000386980 ; ENSG00000143952 . [Q9P1Q0-4 ]
    GeneIDi 51542.
    KEGGi hsa:51542.
    UCSCi uc002scn.3. human. [Q9P1Q0-5 ]
    uc002sco.3. human. [Q9P1Q0-3 ]
    uc002scp.3. human. [Q9P1Q0-4 ]
    uc002scq.3. human. [Q9P1Q0-1 ]

    Organism-specific databases

    CTDi 51542.
    GeneCardsi GC02M064119.
    HGNCi HGNC:18652. VPS54.
    MIMi 614633. gene.
    neXtProti NX_Q9P1Q0.
    PharmGKBi PA134920394.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG285553.
    HOVERGENi HBG068681.
    InParanoidi Q9P1Q0.
    KOi K17600.
    OMAi TKMHEAI.
    OrthoDBi EOG71RXHV.
    PhylomeDBi Q9P1Q0.
    TreeFami TF313700.

    Miscellaneous databases

    GenomeRNAii 51542.
    NextBioi 55313.
    PROi Q9P1Q0.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9P1Q0.
    CleanExi HS_VPS54.
    Genevestigatori Q9P1Q0.

    Family and domain databases

    InterProi IPR019515. Vacuolar_sorting-assoc_54.
    IPR012501. Vps54.
    [Graphical view ]
    Pfami PF10475. DUF2450. 1 hit.
    PF07928. Vps54. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBUNIT.
    3. 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.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., 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.

    Entry informationi

    Entry nameiVPS54_HUMAN
    AccessioniPrimary (citable) accession number: Q9P1Q0
    Secondary accession number(s): Q5VIR5
    , Q86YF7, Q8N6G3, Q9NPV0, Q9NT07, Q9NUJ0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 10, 2005
    Last sequence update: May 10, 2005
    Last modified: October 1, 2014
    This is version 95 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny 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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 2
      Human chromosome 2: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3