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Q96AX1

- VP33A_HUMAN

UniProt

Q96AX1 - VP33A_HUMAN

Protein

Vacuolar protein sorting-associated protein 33A

Gene

VPS33A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 108 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    Functioni

    May play a role in vesicle-mediated protein trafficking to lysosomal compartments and in membrane docking/fusion reactions of late endosomes/lysosomes.By similarity

    GO - Molecular functioni

    1. protein binding Source: UniProtKB

    GO - Biological processi

    1. lysosome localization Source: UniProtKB
    2. melanosome localization Source: UniProtKB
    3. platelet formation Source: UniProtKB
    4. protein transport Source: UniProtKB-KW
    5. regulation of developmental pigmentation Source: UniProtKB
    6. vesicle docking involved in exocytosis Source: InterPro
    7. vesicle-mediated transport Source: MGI

    Keywords - Biological processi

    Protein transport, Transport

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Vacuolar protein sorting-associated protein 33A
    Short name:
    hVPS33A
    Gene namesi
    Name:VPS33A
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:18179. VPS33A.

    Subcellular locationi

    Late endosome membrane By similarity; Peripheral membrane protein By similarity; Cytoplasmic side By similarity. Lysosome membrane By similarity; Peripheral membrane protein By similarity; Cytoplasmic side By similarity
    Note: Cytoplasmic, peripheral membrane protein associated with late endosomes/lysosomes.By similarity

    GO - Cellular componenti

    1. early endosome Source: UniProtKB
    2. late endosome Source: UniProtKB
    3. late endosome membrane Source: UniProtKB-SubCell
    4. lysosomal membrane Source: UniProtKB
    5. perinuclear region of cytoplasm Source: UniProtKB

    Keywords - Cellular componenti

    Endosome, Lysosome, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA38306.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 596596Vacuolar protein sorting-associated protein 33APRO_0000206302Add
    BLAST

    Proteomic databases

    MaxQBiQ96AX1.
    PaxDbiQ96AX1.
    PRIDEiQ96AX1.

    PTM databases

    PhosphoSiteiQ96AX1.

    Expressioni

    Gene expression databases

    ArrayExpressiQ96AX1.
    BgeeiQ96AX1.
    CleanExiHS_VPS33A.
    GenevestigatoriQ96AX1.

    Organism-specific databases

    HPAiHPA038701.

    Interactioni

    Subunit structurei

    Large heterooligomeric complex together with VPS11, VPS16 and VPS18. Interacts with STX7 By similarity. Interacts with VIPAS39.By similarity1 Publication

    Protein-protein interaction databases

    BioGridi122390. 14 interactions.
    IntActiQ96AX1. 7 interactions.
    MINTiMINT-2813690.
    STRINGi9606.ENSP00000267199.

    Structurei

    Secondary structure

    1
    596
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi3 – 53
    Beta strandi7 – 104
    Helixi13 – 2917
    Beta strandi34 – 385
    Helixi40 – 423
    Helixi43 – 464
    Turni47 – 493
    Helixi52 – 576
    Beta strandi60 – 656
    Beta strandi68 – 703
    Beta strandi77 – 837
    Helixi87 – 9812
    Beta strandi102 – 1043
    Beta strandi108 – 1158
    Helixi119 – 12810
    Helixi130 – 1334
    Beta strandi134 – 1396
    Beta strandi144 – 1485
    Beta strandi151 – 1533
    Helixi159 – 1657
    Helixi170 – 18617
    Beta strandi190 – 1967
    Helixi197 – 21115
    Beta strandi225 – 2317
    Helixi232 – 2343
    Helixi238 – 2403
    Helixi246 – 2538
    Beta strandi260 – 2634
    Beta strandi285 – 2884
    Helixi294 – 2996
    Helixi304 – 3063
    Helixi307 – 32620
    Helixi337 – 36529
    Helixi368 – 38114
    Helixi391 – 3988
    Helixi403 – 41715
    Helixi422 – 43615
    Helixi440 – 44910
    Helixi463 – 4697
    Beta strandi479 – 4813
    Helixi485 – 4895
    Helixi495 – 50410
    Helixi508 – 5114
    Helixi512 – 5165
    Beta strandi518 – 5203
    Beta strandi522 – 5265
    Beta strandi543 – 5519
    Helixi555 – 56511
    Beta strandi568 – 5703
    Beta strandi572 – 5798
    Helixi584 – 5896

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    4BX8X-ray2.40A/B1-596[»]
    4BX9X-ray2.60A/B1-596[»]
    ProteinModelPortaliQ96AX1.
    SMRiQ96AX1. Positions 2-596.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the STXBP/unc-18/SEC1 family.Curated

    Phylogenomic databases

    eggNOGiCOG5158.
    HOGENOMiHOG000166771.
    HOVERGENiHBG054244.
    InParanoidiQ96AX1.
    OMAiLRFLSQM.
    OrthoDBiEOG722J85.
    PhylomeDBiQ96AX1.
    TreeFamiTF315126.

    Family and domain databases

    Gene3Di3.40.50.1910. 2 hits.
    InterProiIPR027482. Sec-1-like_dom2.
    IPR001619. Sec1-like.
    [Graphical view]
    PANTHERiPTHR11679. PTHR11679. 1 hit.
    PfamiPF00995. Sec1. 1 hit.
    [Graphical view]
    SUPFAMiSSF56815. SSF56815. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q96AX1-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAAHLSYGRV NLNVLREAVR RELREFLDKC AGSKAIVWDE YLTGPFGLIA    50
    QYSLLKEHEV EKMFTLKGNR LPAADVKNII FFVRPRLELM DIIAENVLSE 100
    DRRGPTRDFH ILFVPRRSLL CEQRLKDLGV LGSFIHREEY SLDLIPFDGD 150
    LLSMESEGAF KECYLEGDQT SLYHAAKGLM TLQALYGTIP QIFGKGECAR 200
    QVANMMIRMK REFTGSQNSI FPVFDNLLLL DRNVDLLTPL ATQLTYEGLI 250
    DEIYGIQNSY VKLPPEKFAP KKQGDGGKDL PTEAKKLQLN SAEELYAEIR 300
    DKNFNAVGSV LSKKAKIISA AFEERHNAKT VGEIKQFVSQ LPHMQAARGS 350
    LANHTSIAEL IKDVTTSEDF FDKLTVEQEF MSGIDTDKVN NYIEDCIAQK 400
    HSLIKVLRLV CLQSVCNSGL KQKVLDYYKR EILQTYGYEH ILTLHNLEKA 450
    GLLKPQTGGR NNYPTIRKTL RLWMDDVNEQ NPTDISYVYS GYAPLSVRLA 500
    QLLSRPGWRS IEEVLRILPG PHFEERQPLP TGLQKKRQPG ENRVTLIFFL 550
    GGVTFAEIAA LRFLSQLEDG GTEYVIATTK LMNGTSWIEA LMEKPF 596
    Length:596
    Mass (Da):67,611
    Last modified:December 1, 2001 - v1
    Checksum:i12442A1D9A223F56
    GO

    Sequence cautioni

    The sequence BAB15570.1 differs from that shown. Reason: Frameshift at position 140.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti256 – 2561I → L.
    Corresponds to variant rs34996966 [ dbSNP | Ensembl ].
    VAR_052471

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF439857 mRNA. Translation: AAL33577.1.
    AK026840 mRNA. Translation: BAB15570.1. Frameshift.
    CH471054 Genomic DNA. Translation: EAW98319.1.
    BC016617 mRNA. Translation: AAH16617.1.
    CCDSiCCDS9231.1.
    RefSeqiNP_075067.2. NM_022916.4.
    UniGeneiHs.592009.

    Genome annotation databases

    EnsembliENST00000267199; ENSP00000267199; ENSG00000139719.
    GeneIDi65082.
    KEGGihsa:65082.
    UCSCiuc001ucd.3. human.

    Polymorphism databases

    DMDMi23396917.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF439857 mRNA. Translation: AAL33577.1 .
    AK026840 mRNA. Translation: BAB15570.1 . Frameshift.
    CH471054 Genomic DNA. Translation: EAW98319.1 .
    BC016617 mRNA. Translation: AAH16617.1 .
    CCDSi CCDS9231.1.
    RefSeqi NP_075067.2. NM_022916.4.
    UniGenei Hs.592009.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    4BX8 X-ray 2.40 A/B 1-596 [» ]
    4BX9 X-ray 2.60 A/B 1-596 [» ]
    ProteinModelPortali Q96AX1.
    SMRi Q96AX1. Positions 2-596.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122390. 14 interactions.
    IntActi Q96AX1. 7 interactions.
    MINTi MINT-2813690.
    STRINGi 9606.ENSP00000267199.

    PTM databases

    PhosphoSitei Q96AX1.

    Polymorphism databases

    DMDMi 23396917.

    Proteomic databases

    MaxQBi Q96AX1.
    PaxDbi Q96AX1.
    PRIDEi Q96AX1.

    Protocols and materials databases

    DNASUi 65082.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000267199 ; ENSP00000267199 ; ENSG00000139719 .
    GeneIDi 65082.
    KEGGi hsa:65082.
    UCSCi uc001ucd.3. human.

    Organism-specific databases

    CTDi 65082.
    GeneCardsi GC12M122716.
    H-InvDB HIX0079486.
    HGNCi HGNC:18179. VPS33A.
    HPAi HPA038701.
    MIMi 610034. gene.
    neXtProti NX_Q96AX1.
    PharmGKBi PA38306.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5158.
    HOGENOMi HOG000166771.
    HOVERGENi HBG054244.
    InParanoidi Q96AX1.
    OMAi LRFLSQM.
    OrthoDBi EOG722J85.
    PhylomeDBi Q96AX1.
    TreeFami TF315126.

    Miscellaneous databases

    ChiTaRSi VPS33A. human.
    GeneWikii VPS33A.
    GenomeRNAii 65082.
    NextBioi 67276.
    PROi Q96AX1.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q96AX1.
    Bgeei Q96AX1.
    CleanExi HS_VPS33A.
    Genevestigatori Q96AX1.

    Family and domain databases

    Gene3Di 3.40.50.1910. 2 hits.
    InterProi IPR027482. Sec-1-like_dom2.
    IPR001619. Sec1-like.
    [Graphical view ]
    PANTHERi PTHR11679. PTHR11679. 1 hit.
    Pfami PF00995. Sec1. 1 hit.
    [Graphical view ]
    SUPFAMi SSF56815. SSF56815. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation."
      Suzuki T., Oiso N., Gautam R., Novak E.K., Panthier J.J., Suprabha P.G., Vida T., Swank R.T., Spritz R.A.
      Proc. Natl. Acad. Sci. U.S.A. 100:1146-1150(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "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].
      Tissue: Lung.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    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].
      Tissue: Colon.
    5. "SPE-39 family proteins interact with the HOPS complex and function in lysosomal delivery."
      Zhu G.D., Salazar G., Zlatic S.A., Fiza B., Doucette M.M., Heilman C.J., Levey A.I., Faundez V., L'hernault S.W.
      Mol. Biol. Cell 20:1223-1240(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH VIPAS39.
    6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiVP33A_HUMAN
    AccessioniPrimary (citable) accession number: Q96AX1
    Secondary accession number(s): Q547V4, Q9H5Q0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 19, 2002
    Last sequence update: December 1, 2001
    Last modified: October 1, 2014
    This is version 108 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 12
      Human chromosome 12: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3