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Q9P1Q0

- VPS54_HUMAN

UniProt

Q9P1Q0 - VPS54_HUMAN

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Protein
Vacuolar protein sorting-associated protein 54
Gene
VPS54, HCC8
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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
Complete GO annotation...

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 54
PRO_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.

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili240 – 26021 Reviewed prediction
Add
BLAST
Coiled coili480 – 50728 Reviewed prediction
Add
BLAST
Coiled coili582 – 60322 Reviewed prediction
Add
BLAST

Sequence similaritiesi

Belongs to the VPS54 family.

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.

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.
VSP_013751Add
BLAST
Alternative sequencei1 – 117117Missing in isoform 3.
VSP_013752Add
BLAST
Alternative sequencei46 – 5712Missing in isoform 4.
VSP_013753Add
BLAST
Alternative sequencei118 – 1269TVYQQEISQ → MLPTKNRIK in isoform 3.
VSP_013754
Alternative sequencei380 – 41536Missing in isoform 3.
VSP_013755Add
BLAST
Alternative sequencei964 – 97714DLDLN…WEQKR → IWT in isoform 2.
VSP_013756Add
BLAST

Sequence conflict

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

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

« Hide 'large scale' publications
  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: July 9, 2014
This is version 94 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

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