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Q9H267

- VP33B_HUMAN

UniProt

Q9H267 - VP33B_HUMAN

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Protein

Vacuolar protein sorting-associated protein 33B

Gene

VPS33B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

May play a role in vesicle-mediated protein trafficking to lysosomal compartments and in membrane docking/fusion reactions of late endosomes/lysosomes. Mediates phagolysosomal fusion in macrophages.1 Publication

GO - Biological processi

  1. lysosome localization Source: UniProtKB
  2. melanosome localization Source: UniProtKB
  3. membrane fusion Source: UniProtKB
  4. platelet alpha granule organization Source: UniProtKB
  5. protein transport Source: UniProtKB
  6. vesicle docking involved in exocytosis Source: InterPro
  7. vesicle-mediated transport Source: MGI
Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Vacuolar protein sorting-associated protein 33B
Short name:
hVPS33B
Gene namesi
Name:VPS33B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:12712. VPS33B.

Subcellular locationi

Late endosome membrane; Peripheral membrane protein; Cytoplasmic side. Lysosome membrane; Peripheral membrane protein; Cytoplasmic side
Note: Cytoplasmic, peripheral membrane protein associated with late endosomes/lysosomes. Colocalizes with M.tuberculosis PtpA in the cytosol of tuberculosis-infected macrophages and associates with phagosomes. Colocalizes in clusters with VIPAS39 at cytoplasmic organelles.

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB
  2. late endosome Source: UniProtKB
  3. lysosome Source: UniProtKB
  4. membrane Source: UniProtKB-KW
  5. perinuclear region of cytoplasm Source: UniProtKB
  6. platelet alpha granule Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endosome, Lysosome, Membrane

Pathology & Biotechi

Involvement in diseasei

Arthrogryposis, renal dysfunction and cholestasis syndrome 1 (ARCS1) [MIM:208085]: A multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase activity. Platelet dysfunction is common.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti30 – 301L → P in ARCS1; interacts with VIPAS39 but does not colocalize with VIPAS39 at cytoplasmic organelles. 1 Publication
VAR_018983
Natural varianti243 – 2431S → F in ARCS1. 1 Publication
VAR_057901

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi133 – 1331Y → E: Reduces phosphorylation activity, but does not impair phagolysosomal fusion in M.tuberculosis-infected macrophages; when associated with E-382; E-511 and E-517. 1 Publication
Mutagenesisi382 – 3821Y → E: Reduces phosphorylation activity, but does not impair phagolysosomal fusion in M.tuberculosis-infected macrophages; when associated with E-133; E-511 and E-517. 1 Publication
Mutagenesisi511 – 5111Y → E: Reduces phosphorylation activity, but does not impair phagolysosomal fusion in M.tuberculosis-infected macrophages; when associated with E-133; E-382 and E-517. 1 Publication
Mutagenesisi517 – 5171Y → E: Reduces phosphorylation activity, but does not impair phagolysosomal fusion in M.tuberculosis-infected macrophages; when associated with E-133; E-382 and E-511. 1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi208085. phenotype.
Orphaneti2697. Arthrogryposis - renal dysfunction - cholestasis.
PharmGKBiPA37327.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 617616Vacuolar protein sorting-associated protein 33BPRO_0000206305Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine1 Publication

Post-translational modificationi

Phosphorylated on tyrosine residues. Dephosphorylation by M.tuberculosis PtpA is necessary to induce the reduction of host phagolysosome fusion in M.tuberculosis-infected macrophages.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiQ9H267.
PaxDbiQ9H267.
PRIDEiQ9H267.

PTM databases

PhosphoSiteiQ9H267.

Expressioni

Tissue specificityi

Ubiquitous; highly expressed in testis and low expression in the lung.

Gene expression databases

BgeeiQ9H267.
CleanExiHS_VPS33B.
ExpressionAtlasiQ9H267. baseline and differential.
GenevestigatoriQ9H267.

Organism-specific databases

HPAiHPA040415.

Interactioni

Subunit structurei

Interacts with RAB11A and VIPAS39. Interacts with M.tuberculosis PtpA.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
VIPAS39Q9H9C120EBI-749072,EBI-749080

Protein-protein interaction databases

BioGridi117659. 23 interactions.
IntActiQ9H267. 8 interactions.
MINTiMINT-1451069.
STRINGi9606.ENSP00000327650.

Structurei

3D structure databases

ProteinModelPortaliQ9H267.
SMRiQ9H267. Positions 14-614.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiCOG5158.
GeneTreeiENSGT00530000063488.
HOGENOMiHOG000166771.
HOVERGENiHBG106182.
InParanoidiQ9H267.
OMAiKGYRFIF.
OrthoDBiEOG722J85.
PhylomeDBiQ9H267.
TreeFamiTF315126.

Family and domain databases

Gene3Di3.40.50.1910. 2 hits.
InterProiIPR027482. Sec-1-like_dom2.
IPR001619. Sec1-like.
IPR027121. VPS33.
[Graphical view]
PANTHERiPTHR11679. PTHR11679. 1 hit.
PTHR11679:SF1. PTHR11679:SF1. 1 hit.
PfamiPF00995. Sec1. 1 hit.
[Graphical view]
SUPFAMiSSF56815. SSF56815. 2 hits.

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: Q9H267-1) [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

        10         20         30         40         50
MAFPHRPDAP ELPDFSMLKR LARDQLIYLL EQLPGKKDLF IEADLMSPLD
60 70 80 90 100
RIANVSILKQ HEVDKLYKVE NKPALSSNEQ LCFLVRPRIK NMRYIASLVN
110 120 130 140 150
ADKLAGRTRK YKVIFSPQKF YACEMVLEEE GIYGDVSCDE WAFSLLPLDV
160 170 180 190 200
DLLSMELPEF FRDYFLEGDQ RWINTVAQAL HLLSTLYGPF PNCYGIGRCA
210 220 230 240 250
KMAYELWRNL EEEEDGETKG RRPEIGHIFL LDRDVDFVTA LCSQVVYEGL
260 270 280 290 300
VDDTFRIKCG SVDFGPEVTS SDKSLKVLLN AEDKVFNEIR NEHFSNVFGF
310 320 330 340 350
LSQKARNLQA QYDRRRGMDI KQMKNFVSQE LKGLKQEHRL LSLHIGACES
360 370 380 390 400
IMKKKTKQDF QELIKTEHAL LEGFNIREST SYIEEHIDRQ VSPIESLRLM
410 420 430 440 450
CLLSITENGL IPKDYRSLKT QYLQSYGPEH LLTFSNLRRA GLLTEQAPGD
460 470 480 490 500
TLTAVESKVS KLVTDKAAGK ITDAFSSLAK RSNFRAISKK LNLIPRVDGE
510 520 530 540 550
YDLKVPRDMA YVFGGAYVPL SCRIIEQVLE RRSWQGLDEV VRLLNCSDFA
560 570 580 590 600
FTDMTKEDKA SSESLRLILV VFLGGCTFSE ISALRFLGRE KGYRFIFLTT
610
AVTNSARLME AMSEVKA
Length:617
Mass (Da):70,585
Last modified:November 30, 2010 - v2
Checksum:iBD7DB97E1FEB1D32
GO
Isoform 2 (identifier: Q9H267-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-91: Missing.

Note: No experimental confirmation available.

Show »
Length:526
Mass (Da):60,032
Checksum:iA614FE0EFCBF8BE2
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti293 – 2931H → Y in BAB55345. (PubMed:14702039)Curated
Sequence conflicti466 – 4661K → E in BAB55345. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti30 – 301L → P in ARCS1; interacts with VIPAS39 but does not colocalize with VIPAS39 at cytoplasmic organelles. 1 Publication
VAR_018983
Natural varianti243 – 2431S → F in ARCS1. 1 Publication
VAR_057901
Natural varianti513 – 5131F → S.
Corresponds to variant rs3177428 [ dbSNP | Ensembl ].
VAR_057330
Natural varianti514 – 5141G → S.3 Publications
Corresponds to variant rs11073964 [ dbSNP | Ensembl ].
VAR_013828

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 9191Missing in isoform 2. 1 PublicationVSP_056567Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF201694 mRNA. Translation: AAF91174.1.
AL357472 mRNA. Translation: CAB93109.1.
AF308803 mRNA. Translation: AAG34680.1.
AK027754 mRNA. Translation: BAB55345.1.
AK074863 mRNA. Translation: BAG52018.1.
AC068831 Genomic DNA. No translation available.
CH471101 Genomic DNA. Translation: EAX02140.1.
BC016445 mRNA. Translation: AAH16445.1.
CCDSiCCDS10369.1. [Q9H267-1]
RefSeqiNP_001276077.1. NM_001289148.1.
NP_001276078.1. NM_001289149.1. [Q9H267-2]
NP_061138.3. NM_018668.4. [Q9H267-1]
XP_005254944.1. XM_005254887.1. [Q9H267-2]
UniGeneiHs.745007.

Genome annotation databases

EnsembliENST00000333371; ENSP00000327650; ENSG00000184056. [Q9H267-1]
GeneIDi26276.
KEGGihsa:26276.
UCSCiuc002bqp.1. human. [Q9H267-1]

Polymorphism databases

DMDMi313104046.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF201694 mRNA. Translation: AAF91174.1 .
AL357472 mRNA. Translation: CAB93109.1 .
AF308803 mRNA. Translation: AAG34680.1 .
AK027754 mRNA. Translation: BAB55345.1 .
AK074863 mRNA. Translation: BAG52018.1 .
AC068831 Genomic DNA. No translation available.
CH471101 Genomic DNA. Translation: EAX02140.1 .
BC016445 mRNA. Translation: AAH16445.1 .
CCDSi CCDS10369.1. [Q9H267-1 ]
RefSeqi NP_001276077.1. NM_001289148.1.
NP_001276078.1. NM_001289149.1. [Q9H267-2 ]
NP_061138.3. NM_018668.4. [Q9H267-1 ]
XP_005254944.1. XM_005254887.1. [Q9H267-2 ]
UniGenei Hs.745007.

3D structure databases

ProteinModelPortali Q9H267.
SMRi Q9H267. Positions 14-614.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 117659. 23 interactions.
IntActi Q9H267. 8 interactions.
MINTi MINT-1451069.
STRINGi 9606.ENSP00000327650.

PTM databases

PhosphoSitei Q9H267.

Polymorphism databases

DMDMi 313104046.

Proteomic databases

MaxQBi Q9H267.
PaxDbi Q9H267.
PRIDEi Q9H267.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000333371 ; ENSP00000327650 ; ENSG00000184056 . [Q9H267-1 ]
GeneIDi 26276.
KEGGi hsa:26276.
UCSCi uc002bqp.1. human. [Q9H267-1 ]

Organism-specific databases

CTDi 26276.
GeneCardsi GC15M091541.
H-InvDB HIX0202153.
HGNCi HGNC:12712. VPS33B.
HPAi HPA040415.
MIMi 208085. phenotype.
608552. gene.
neXtProti NX_Q9H267.
Orphaneti 2697. Arthrogryposis - renal dysfunction - cholestasis.
PharmGKBi PA37327.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5158.
GeneTreei ENSGT00530000063488.
HOGENOMi HOG000166771.
HOVERGENi HBG106182.
InParanoidi Q9H267.
OMAi KGYRFIF.
OrthoDBi EOG722J85.
PhylomeDBi Q9H267.
TreeFami TF315126.

Miscellaneous databases

ChiTaRSi VPS33B. human.
GeneWikii VPS33B.
GenomeRNAii 26276.
NextBioi 35469357.
PROi Q9H267.
SOURCEi Search...

Gene expression databases

Bgeei Q9H267.
CleanExi HS_VPS33B.
ExpressionAtlasi Q9H267. baseline and differential.
Genevestigatori Q9H267.

Family and domain databases

Gene3Di 3.40.50.1910. 2 hits.
InterProi IPR027482. Sec-1-like_dom2.
IPR001619. Sec1-like.
IPR027121. VPS33.
[Graphical view ]
PANTHERi PTHR11679. PTHR11679. 1 hit.
PTHR11679:SF1. PTHR11679:SF1. 1 hit.
Pfami PF00995. Sec1. 1 hit.
[Graphical view ]
SUPFAMi SSF56815. SSF56815. 2 hits.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning, mapping and expression analysis of VPS33B, the human orthologue of rat Vps33b."
    Carim-Todd L., Sumoy L., Andreu N., Estivill X., Escarceller M.
    Cytogenet. Cell Genet. 89:92-95(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT SER-514.
  2. "Molecular cloning and characterization of human VPS18, VPS11, VPS16, and VPS33."
    Huizing M., Didier A., Walenta J., Anikster Y., Gahl W.A., Kraemer H.
    Gene 264:241-247(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  3. "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] (ISOFORMS 1 AND 2), VARIANT SER-514.
    Tissue: Placenta.
  4. "Analysis of the DNA sequence and duplication history of human chromosome 15."
    Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
    , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
    Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "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), VARIANT SER-514.
    Tissue: Placenta.
  7. "Mycobacterium tuberculosis virulence is mediated by PtpA dephosphorylation of human vacuolar protein sorting 33B."
    Bach H., Papavinasasundaram K.G., Wong D., Hmama Z., Av-Gay Y.
    Cell Host Microbe 3:316-322(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, DEPHOSPHORYLATION, PHOSPHORYLATION, INTERACTION WITH MYCOBACTERIUM TUBERCULOSIS PTPA, MUTAGENESIS OF TYR-133; TYR-382; TYR-511 AND TYR-517, SUBCELLULAR LOCATION, IDENTIFICATION BY MASS SPECTROMETRY.
  8. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [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].
  9. Cited for: INTERACTION WITH RAB11A AND VIPAS39, CHARACTERIZATION OF VARIANT ARCS1 PRO-30, SUBCELLULAR LOCATION.
  10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  11. Cited for: VARIANT ARCS1 PRO-30, SUBCELLULAR LOCATION.
  12. Cited for: VARIANT ARCS1 PHE-243.

Entry informationi

Entry nameiVP33B_HUMAN
AccessioniPrimary (citable) accession number: Q9H267
Secondary accession number(s): B3KQF6
, Q96K14, Q9NRP6, Q9NSF3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: November 30, 2010
Last modified: November 26, 2014
This is version 125 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 15
    Human chromosome 15: 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