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Q8N1B4

- VPS52_HUMAN

UniProt

Q8N1B4 - VPS52_HUMAN

Protein

Vacuolar protein sorting-associated protein 52 homolog

Gene

VPS52

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 99 (01 Oct 2014)
      Sequence version 1 (01 Oct 2002)
      Previous versions | rss
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    Functioni

    May be involved in retrograde transport of 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.2 Publications

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. ectodermal cell differentiation Source: Ensembl
    2. embryonic ectodermal digestive tract development Source: Ensembl
    3. protein transport Source: UniProtKB-KW

    Keywords - Biological processi

    Protein transport, Transport

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Vacuolar protein sorting-associated protein 52 homolog
    Alternative name(s):
    SAC2 suppressor of actin mutations 2-like protein
    Gene namesi
    Name:VPS52
    Synonyms:SACM2L
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:10518. VPS52.

    Subcellular locationi

    GO - Cellular componenti

    1. endosome membrane Source: UniProtKB-SubCell
    2. Golgi apparatus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Endosome, Golgi apparatus, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA34926.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed2 Publications
    Chaini2 – 723722Vacuolar protein sorting-associated protein 52 homologPRO_0000213315Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine2 Publications

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ8N1B4.
    PaxDbiQ8N1B4.
    PRIDEiQ8N1B4.

    PTM databases

    PhosphoSiteiQ8N1B4.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8N1B4.
    BgeeiQ8N1B4.
    CleanExiHS_VPS52.
    GenevestigatoriQ8N1B4.

    Organism-specific databases

    HPAiHPA042667.
    HPA048128.

    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. Interacts with RAB6A and STX10.2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    Q9WMX22EBI-2799833,EBI-6863748From a different organism.

    Protein-protein interaction databases

    BioGridi112200. 9 interactions.
    DIPiDIP-57843N.
    IntActiQ8N1B4. 5 interactions.
    MINTiMINT-3039108.
    STRINGi9606.ENSP00000406988.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8N1B4.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili107 – 12721Sequence AnalysisAdd
    BLAST
    Coiled coili194 – 21522Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the VPS52 family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG296730.
    HOVERGENiHBG052966.
    InParanoidiQ8N1B4.
    OMAiALVDNAC.
    PhylomeDBiQ8N1B4.
    TreeFamiTF314937.

    Family and domain databases

    InterProiIPR007258. Vps52.
    [Graphical view]
    PANTHERiPTHR14190. PTHR14190. 1 hit.
    PfamiPF04129. Vps52. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8N1B4-1) [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

    MAAAATMAAA ARELVLRAGT SDMEEEEGPL AGGPGLQEPL QLGELDITSD    50
    EFILDEVDVH IQANLEDELV KEALKTGVDL RHYSKQVELE LQQIEQKSIR 100
    DYIQESENIA SLHNQITACD AVLERMEQML GAFQSDLSSI SSEIRTLQEQ 150
    SGAMNIRLRN RQAVRGKLGE LVDGLVVPSA LVTAILEAPV TEPRFLEQLQ 200
    ELDAKAAAVR EQEARGTAAC ADVRGVLDRL RVKAVTKIRE FILQKIYSFR 250
    KPMTNYQIPQ TALLKYRFFY QFLLGNERAT AKEIRDEYVE TLSKIYLSYY 300
    RSYLGRLMKV QYEEVAEKDD LMGVEDTAKK GFFSKPSLRS RNTIFTLGTR 350
    GSVISPTELE APILVPHTAQ RGEQRYPFEA LFRSQHYALL DNSCREYLFI 400
    CEFFVVSGPA AHDLFHAVMG RTLSMTLKHL DSYLADCYDA IAVFLCIHIV 450
    LRFRNIAAKR DVPALDRYWE QVLALLWPRF ELILEMNVQS VRSTDPQRLG 500
    GLDTRPHYIT RRYAEFSSAL VSINQTIPNE RTMQLLGQLQ VEVENFVLRV 550
    AAEFSSRKEQ LVFLINNYDM MLGVLMERAA DDSKEVESFQ QLLNARTQEF 600
    IEELLSPPFG GLVAFVKEAE ALIERGQAER LRGEEARVTQ LIRGFGSSWK 650
    SSVESLSQDV MRSFTNFRNG TSIIQGALTQ LIQLYHRFHR VLSQPQLRAL 700
    PARAELINIH HLMVELKKHK PNF 723
    Length:723
    Mass (Da):82,221
    Last modified:October 1, 2002 - v1
    Checksum:iC0961E2BE50B24DF
    GO
    Isoform 2 (identifier: Q8N1B4-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-125: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:598
    Mass (Da):68,496
    Checksum:iA5901265E5EEDBC7
    GO

    Sequence cautioni

    The sequence CAI95619.1 differs from that shown. Reason: Erroneous gene model prediction.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti710 – 7101H → P in BAD96587. 1 PublicationCurated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 125125Missing in isoform 2. 1 PublicationVSP_056476Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK297935 mRNA. Translation: BAG60251.1.
    AK222867 mRNA. Translation: BAD96587.1.
    AL645940 Genomic DNA. No translation available.
    AL031228 Genomic DNA. Translation: CAI95619.1. Sequence problems.
    BX248408 Genomic DNA. Translation: CAM26258.1.
    CR762434, CR759817 Genomic DNA. Translation: CAQ06872.1.
    CR759817, CR762434 Genomic DNA. Translation: CAQ08020.1.
    CR759786 Genomic DNA. Translation: CAQ08250.1.
    CH471081 Genomic DNA. Translation: EAX03688.1.
    BC032108 mRNA. Translation: AAH32108.1.
    BC040114 mRNA. Translation: AAH40114.2.
    AL390171 mRNA. Translation: CAB99099.1.
    CCDSiCCDS4770.2.
    PIRiT51882.
    RefSeqiNP_001276104.1. NM_001289175.1.
    NP_001276105.1. NM_001289176.1.
    NP_072047.4. NM_022553.5.
    UniGeneiHs.480356.

    Genome annotation databases

    EnsembliENST00000383210; ENSP00000372697; ENSG00000206286.
    ENST00000428608; ENSP00000406988; ENSG00000236014.
    ENST00000436044; ENSP00000395282; ENSG00000223501.
    ENST00000441058; ENSP00000390831; ENSG00000228425.
    ENST00000443860; ENSP00000404016; ENSG00000224455.
    ENST00000445902; ENSP00000409952; ENSG00000223501.
    ENST00000448042; ENSP00000391197; ENSG00000225590.
    GeneIDi6293.
    KEGGihsa:6293.
    UCSCiuc003odm.1. human.

    Polymorphism databases

    DMDMi74750887.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK297935 mRNA. Translation: BAG60251.1 .
    AK222867 mRNA. Translation: BAD96587.1 .
    AL645940 Genomic DNA. No translation available.
    AL031228 Genomic DNA. Translation: CAI95619.1 . Sequence problems.
    BX248408 Genomic DNA. Translation: CAM26258.1 .
    CR762434 , CR759817 Genomic DNA. Translation: CAQ06872.1 .
    CR759817 , CR762434 Genomic DNA. Translation: CAQ08020.1 .
    CR759786 Genomic DNA. Translation: CAQ08250.1 .
    CH471081 Genomic DNA. Translation: EAX03688.1 .
    BC032108 mRNA. Translation: AAH32108.1 .
    BC040114 mRNA. Translation: AAH40114.2 .
    AL390171 mRNA. Translation: CAB99099.1 .
    CCDSi CCDS4770.2.
    PIRi T51882.
    RefSeqi NP_001276104.1. NM_001289175.1.
    NP_001276105.1. NM_001289176.1.
    NP_072047.4. NM_022553.5.
    UniGenei Hs.480356.

    3D structure databases

    ProteinModelPortali Q8N1B4.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112200. 9 interactions.
    DIPi DIP-57843N.
    IntActi Q8N1B4. 5 interactions.
    MINTi MINT-3039108.
    STRINGi 9606.ENSP00000406988.

    PTM databases

    PhosphoSitei Q8N1B4.

    Polymorphism databases

    DMDMi 74750887.

    Proteomic databases

    MaxQBi Q8N1B4.
    PaxDbi Q8N1B4.
    PRIDEi Q8N1B4.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000383210 ; ENSP00000372697 ; ENSG00000206286 .
    ENST00000428608 ; ENSP00000406988 ; ENSG00000236014 .
    ENST00000436044 ; ENSP00000395282 ; ENSG00000223501 .
    ENST00000441058 ; ENSP00000390831 ; ENSG00000228425 .
    ENST00000443860 ; ENSP00000404016 ; ENSG00000224455 .
    ENST00000445902 ; ENSP00000409952 ; ENSG00000223501 .
    ENST00000448042 ; ENSP00000391197 ; ENSG00000225590 .
    GeneIDi 6293.
    KEGGi hsa:6293.
    UCSCi uc003odm.1. human.

    Organism-specific databases

    CTDi 6293.
    GeneCardsi GC06M033218.
    GC06Mj33140.
    GC06Mk33195.
    GC06Mm33388.
    GC06Mn33146.
    GC06Mo33357.
    HGNCi HGNC:10518. VPS52.
    HPAi HPA042667.
    HPA048128.
    MIMi 603443. gene.
    neXtProti NX_Q8N1B4.
    PharmGKBi PA34926.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG296730.
    HOVERGENi HBG052966.
    InParanoidi Q8N1B4.
    OMAi ALVDNAC.
    PhylomeDBi Q8N1B4.
    TreeFami TF314937.

    Miscellaneous databases

    ChiTaRSi VPS52. human.
    GeneWikii VPS52.
    GenomeRNAii 6293.
    NextBioi 24431.
    PROi Q8N1B4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8N1B4.
    Bgeei Q8N1B4.
    CleanExi HS_VPS52.
    Genevestigatori Q8N1B4.

    Family and domain databases

    InterProi IPR007258. Vps52.
    [Graphical view ]
    PANTHERi PTHR14190. PTHR14190. 1 hit.
    Pfami PF04129. Vps52. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "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] (ISOFORM 2).
    2. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
      Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Liver.
    3. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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] (ISOFORM 1).
      Tissue: Brain and Colon.
    6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 255-723 (ISOFORM 1).
      Tissue: Brain.
    7. Cited for: FUNCTION, SUBUNIT, SUBCELLULAR LOCATION, INTERACTION WITH RAB6A AND STX10.
    8. "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.
    9. "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.
    10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
      Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
      Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
    12. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiVPS52_HUMAN
    AccessioniPrimary (citable) accession number: Q8N1B4
    Secondary accession number(s): A2BF38
    , B0UZZ4, B4DNI9, Q53GR4, Q5JPA0, Q5SQW1, Q8IUN6, Q9NPT5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 22, 2005
    Last sequence update: October 1, 2002
    Last modified: October 1, 2014
    This is version 99 of the entry and version 1 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 6
      Human chromosome 6: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3