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Q9P1Q0 (VPS54_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 94. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
Name:VPS54
Synonyms:HCC8
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length977 AA.
Sequence statusComplete.
Protein existenceEvidence 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

Subcellular location

Golgi apparatustrans-Golgi network Ref.6.

Sequence similarities

Belongs to the VPS54 family.

Sequence caution

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

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 977977Vacuolar protein sorting-associated protein 54
PRO_0000148731

Regions

Coiled coil240 – 26021 Potential
Coiled coil480 – 50728 Potential
Coiled coil582 – 60322 Potential

Natural variations

Alternative sequence1 – 838838Missing in isoform 5.
VSP_013751
Alternative sequence1 – 117117Missing in isoform 3.
VSP_013752
Alternative sequence46 – 5712Missing in isoform 4.
VSP_013753
Alternative sequence118 – 1269TVYQQEISQ → MLPTKNRIK in isoform 3.
VSP_013754
Alternative sequence380 – 41536Missing in isoform 3.
VSP_013755
Alternative sequence964 – 97714DLDLN…WEQKR → IWT in isoform 2.
VSP_013756
Natural variant5611S → C.
Corresponds to variant rs34015596 [ dbSNP | Ensembl ].
VAR_052944
Natural variant9121M → I.
Corresponds to variant rs11558741 [ dbSNP | Ensembl ].
VAR_061983

Experimental info

Sequence conflict1301I → V in AAF37319. Ref.1
Sequence conflict5261E → K in AAF37319. Ref.1
Sequence conflict6011E → G in AAF37319. Ref.1
Sequence conflict6431E → G in AAF37319. Ref.1
Sequence conflict6501E → A in AAF37319. Ref.1
Sequence conflict677 – 6793EER → VGG in AAF37319. Ref.1
Sequence conflict7271K → E in BAA92134. Ref.5
Sequence conflict8441D → G in AAH41868. Ref.4
Sequence conflict9041L → H in AAH41868. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 10, 2005. Version 2.
Checksum: 3290160E3460C836

FASTA977110,589
        10         20         30         40         50         60 
MASSHSSSPV PQGSSSDVFF KIEVDPSKHI RPVPSLPDVC PKEPTGDSHS LYVAPSLVTD 

        70         80         90        100        110        120 
QHRWTVYHSK VNLPAALNDP RLAKRESDFF TKTWGLDFVD TEVIPSFYLP QISKEHFTVY 

       130        140        150        160        170        180 
QQEISQREKI HERCKNICPP KDTFERTLLH THDKSRTDLE QVPKIFMKPD FALDDSLTFN 

       190        200        210        220        230        240 
SVLPWSHFNT AGGKGNRDAA SSKLLQEKLS HYLDIVEVNI AHQISLRSEA FFHAMTSQHE 

       250        260        270        280        290        300 
LQDYLRKTSQ AVKMLRDKIA QIDKVMCEGS LHILRLALTR NNCVKVYNKL KLMATVHQTQ 

       310        320        330        340        350        360 
PTVQVLLSTS EFVGALDLIA TTQEVLQQEL QGIHSFRHLG SQLCELEKLI DKMMIAEFST 

       370        380        390        400        410        420 
YSHSDLNRPL EDDCQVLEEE RLISLVFGLL KQRKLNFLEI YGEKMVITAK NIIKQCVINK 

       430        440        450        460        470        480 
VSQTEEIDTD VVVKLADQMR MLNFPQWFDL LKDIFSKFTI FLQRVKATLN IIHSVVLSVL 

       490        500        510        520        530        540 
DKNQRTRELE EISQQKNAAK DNSLDTEVAY LIHEGMFISD AFGEGELTPI AVDTTSQRNA 

       550        560        570        580        590        600 
SPNSEPCSSD SVSEPECTTD SSSSKEHTSS SAIPGGVDIM VSEDMKLTDS ELGKLANNIQ 

       610        620        630        640        650        660 
ELLYSASDIC HDRAVKFLMS RAKDGFLEKL NSMEFITLSR LMETFILDTE QICGRKSTSL 

       670        680        690        700        710        720 
LGALQSQAIK FVNRFHEERK TKLSLLLDNE RWKQADVPAE FQDLVDSLSD GKIALPEKKS 

       730        740        750        760        770        780 
GATEERKPAE VLIVEGQQYA VVGTVLLLIR IILEYCQCVD NIPSVTTDML TRLSDLLKYF 

       790        800        810        820        830        840 
NSRSCQLVLG AGALQVVGLK TITTKNLALS SRCLQLIVHY IPVIRAHFEA RLPPKQYSML 

       850        860        870        880        890        900 
RHFDHITKDY HDHIAEISAK LVAIMDSLFD KLLSKYEVKA PVPSACFRNI CKQMTKMHEA 

       910        920        930        940        950        960 
IFDLLPEEQT QMLFLRINAS YKLHLKKQLS HLNVINDGGP QNGLVTADVA FYTGNLQALK 

       970 
GLKDLDLNMA EIWEQKR 

« Hide

Isoform 2 [UniParc].

Checksum: 7FA7C844A6026471
Show »

FASTA966109,246
Isoform 3 [UniParc].

Checksum: 9EF51F039A9AD46A
Show »

FASTA82493,274
Isoform 4 [UniParc].

Checksum: D91F94CD6CDC72D3
Show »

FASTA965109,362
Isoform 5 [UniParc].

Checksum: F6AFBCDA077C7BB4
Show »

FASTA13915,982

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. expand/collapse author list , 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.
+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.
CCDSCCDS33208.1. [Q9P1Q0-1]
CCDS46302.1. [Q9P1Q0-4]
PIRT46308.
RefSeqNP_001005739.1. NM_001005739.1. [Q9P1Q0-4]
NP_057600.2. NM_016516.2. [Q9P1Q0-1]
UniGeneHs.48499.

3D structure databases

ProteinModelPortalQ9P1Q0.
SMRQ9P1Q0. Positions 843-974.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid119600. 5 interactions.
IntActQ9P1Q0. 2 interactions.
STRING9606.ENSP00000272322.

PTM databases

PhosphoSiteQ9P1Q0.

Polymorphism databases

DMDM82583721.

Proteomic databases

MaxQBQ9P1Q0.
PaxDbQ9P1Q0.
PRIDEQ9P1Q0.

Protocols and materials databases

DNASU51542.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000272322; ENSP00000272322; ENSG00000143952. [Q9P1Q0-1]
ENST00000354504; ENSP00000346499; ENSG00000143952. [Q9P1Q0-3]
ENST00000409558; ENSP00000386980; ENSG00000143952. [Q9P1Q0-4]
GeneID51542.
KEGGhsa:51542.
UCSCuc002scn.3. human. [Q9P1Q0-5]
uc002sco.3. human. [Q9P1Q0-3]
uc002scp.3. human. [Q9P1Q0-4]
uc002scq.3. human. [Q9P1Q0-1]

Organism-specific databases

CTD51542.
GeneCardsGC02M064119.
HGNCHGNC:18652. VPS54.
MIM614633. gene.
neXtProtNX_Q9P1Q0.
PharmGKBPA134920394.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG285553.
HOVERGENHBG068681.
InParanoidQ9P1Q0.
KOK17600.
OMATKMHEAI.
OrthoDBEOG71RXHV.
PhylomeDBQ9P1Q0.
TreeFamTF313700.

Gene expression databases

BgeeQ9P1Q0.
CleanExHS_VPS54.
GenevestigatorQ9P1Q0.

Family and domain databases

InterProIPR019515. Vacuolar_sorting-assoc_54.
IPR012501. Vps54.
[Graphical view]
PfamPF10475. DUF2450. 1 hit.
PF07928. Vps54. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi51542.
NextBio55313.
PROQ9P1Q0.
SOURCESearch...

Entry information

Entry nameVPS54_HUMAN
AccessionPrimary (citable) accession number: Q9P1Q0
Secondary accession number(s): Q5VIR5 expand/collapse secondary AC list , Q86YF7, Q8N6G3, Q9NPV0, Q9NT07, Q9NUJ0
Entry history
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 statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM