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Q9NRW7

- VPS45_HUMAN

UniProt

Q9NRW7 - VPS45_HUMAN

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Protein
Vacuolar protein sorting-associated protein 45
Gene
VPS45, VPS45A, VPS45B
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

Functioni

May play a role in vesicle-mediated protein trafficking from the Golgi stack through the trans-Golgi network.

GO - Biological processi

  1. blood coagulation Source: Reactome
  2. intracellular protein transport Source: UniProtKB
  3. vesicle docking involved in exocytosis Source: InterPro
Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

Enzyme and pathway databases

ReactomeiREACT_24970. Factors involved in megakaryocyte development and platelet production.

Names & Taxonomyi

Protein namesi
Recommended name:
Vacuolar protein sorting-associated protein 45
Short name:
h-VPS45
Short name:
hlVps45
Gene namesi
Name:VPS45
Synonyms:VPS45A, VPS45B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:14579. VPS45.

Subcellular locationi

Golgi apparatus membrane; Peripheral membrane protein By similarity. Endosome membrane; Peripheral membrane protein By similarity
Note: Associated with Golgi/endosomal vesicles and the trans-Golgi network By similarity.

GO - Cellular componenti

  1. Golgi apparatus Source: BHF-UCL
  2. Golgi membrane Source: UniProtKB-SubCell
  3. endosome membrane Source: Reactome
  4. integral component of membrane Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Endosome, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Neutropenia, severe congenital 5, autosomal recessive (SCN5) [MIM:615285]: An autosomal recessive primary immunodeficiency disorder characterized primarily by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti224 – 2241T → N in SCN5; patient fibroblasts are characterized by impaired motility and increased apoptosis. 1 Publication
VAR_069865
Natural varianti238 – 2381E → K in SCN5. 1 Publication
VAR_069866

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi615285. phenotype.
Orphaneti369852. Recurrent infections-myelofibrosis-nephromegaly syndrome.
PharmGKBiPA37901.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 570570Vacuolar protein sorting-associated protein 45
PRO_0000206312Add
BLAST

Proteomic databases

MaxQBiQ9NRW7.
PaxDbiQ9NRW7.
PRIDEiQ9NRW7.

PTM databases

PhosphoSiteiQ9NRW7.

Expressioni

Tissue specificityi

Ubiquitous. Expression was highest in testis, heart and brain, intermediate in kidney, spleen, prostate, ovary, small intestine and thymus and low in lung, skeletal muscle, placenta, colon, pancreas, peripheral blood leukocytes and liver.

Gene expression databases

ArrayExpressiQ9NRW7.
BgeeiQ9NRW7.
CleanExiHS_VPS45.
GenevestigatoriQ9NRW7.

Organism-specific databases

HPAiHPA027425.
HPA027441.

Interactioni

Subunit structurei

Interacts with STX6 By similarity. Interacts with ZFYVE20.2 Publications

Protein-protein interaction databases

BioGridi116443. 6 interactions.
STRINGi9606.ENSP00000358126.

Structurei

3D structure databases

ProteinModelPortaliQ9NRW7.
SMRiQ9NRW7. Positions 20-549.

Family & Domainsi

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiCOG5158.
HOGENOMiHOG000200803.
HOVERGENiHBG059810.
InParanoidiQ9NRW7.
KOiK12479.
OMAiHSSALQX.
OrthoDBiEOG7H791T.
PhylomeDBiQ9NRW7.
TreeFamiTF300407.

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]
PIRSFiPIRSF005715. VPS45_Sec1. 1 hit.
SUPFAMiSSF56815. SSF56815. 1 hit.

Sequencei

Sequence statusi: Complete.

Q9NRW7-1 [UniParc]FASTAAdd to Basket

« Hide

MNVVFAVKQY ISKMIEDSGP GMKVLLMDKE TTGIVSMVYT QSEILQKEVY    50
LFERIDSQNR EIMKHLKAIC FLRPTKENVD YIIQELRRPK YTIYFIYFSN 100
VISKSDVKSL AEADEQEVVA EVQEFYGDYI AVNPHLFSLN ILGCCQGRNW 150
DPAQLSRTTQ GLTALLLSLK KCPMIRYQLS SEAAKRLAEC VKQVITKEYE 200
LFEFRRTEVP PLLLILDRCD DAITPLLNQW TYQAMVHELL GINNNRIDLS 250
RVPGISKDLR EVVLSAENDE FYANNMYLNF AEIGSNIKNL MEDFQKKKPK 300
EQQKLESIAD MKAFVENYPQ FKKMSGTVSK HVTVVGELSR LVSERNLLEV 350
SEVEQELACQ NDHSSALQNI KRLLQNPKVT EFDAARLVML YALHYERHSS 400
NSLPGLMMDL RNKGVSEKYR KLVSAVVEYG GKRVRGSDLF SPKDAVAITK 450
QFLKGLKGVE NVYTQHQPFL HETLDHLIKG RLKENLYPYL GPSTLRDRPQ 500
DIIVFVIGGA TYEEALTVYN LNRTTPGVRI VLGGTTVHNT KSFLEEVLAS 550
GLHSRSKESS QVTSRSASRR 570
Length:570
Mass (Da):65,077
Last modified:October 1, 2000 - v1
Checksum:i5574F0BE3A7D4EB3
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti224 – 2241T → N in SCN5; patient fibroblasts are characterized by impaired motility and increased apoptosis. 1 Publication
VAR_069865
Natural varianti238 – 2381E → K in SCN5. 1 Publication
VAR_069866

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti81 – 822YI → SL in AAC50931. 1 Publication
Sequence conflicti92 – 921T → S in AAC50931. 1 Publication
Sequence conflicti188 – 1881A → G in AAC50931. 1 Publication
Sequence conflicti196 – 1961T → S in AAC50931. 1 Publication
Sequence conflicti219 – 2191C → L in CAB40417. 1 Publication
Sequence conflicti241 – 2411G → D in AAC50931. 1 Publication
Sequence conflicti298 – 2981K → R in AAC50931. 1 Publication
Sequence conflicti370 – 3701I → V in AAC50931. 1 Publication
Sequence conflicti385 – 3851A → V in AAC50931. 1 Publication
Sequence conflicti407 – 4082MM → IV in AAC50931. 1 Publication
Sequence conflicti412 – 4121N → S in AAC50931. 1 Publication
Sequence conflicti416 – 4161S → A in AAC50931. 1 Publication
Sequence conflicti481 – 4811R → K in AAC50931. 1 Publication
Sequence conflicti537 – 5371V → I in AAC50931. 1 Publication
Sequence conflicti557 – 5571K → R in AAC50931. 1 Publication
Sequence conflicti562 – 5621V → A in AAC50931. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U35246 mRNA. Translation: AAC50931.1.
AJ133421 mRNA. Translation: CAB40417.1.
AF165513 mRNA. Translation: AAF86643.1.
AK023170 mRNA. Translation: BAB14443.1.
AL358073 Genomic DNA. Translation: CAI14265.1.
CH471121 Genomic DNA. Translation: EAW53584.1.
CH471121 Genomic DNA. Translation: EAW53585.1.
BC012932 mRNA. Translation: AAH12932.1.
BC028382 mRNA. Translation: AAH28382.1.
CCDSiCCDS944.1.
PIRiJC5722.
RefSeqiNP_001266282.1. NM_001279353.1.
NP_001266283.1. NM_001279354.1.
NP_001266284.1. NM_001279355.1.
NP_009190.2. NM_007259.4.
UniGeneiHs.443750.

Genome annotation databases

EnsembliENST00000369130; ENSP00000358126; ENSG00000136631.
GeneIDi11311.
KEGGihsa:11311.
UCSCiuc001etp.3. human.

Polymorphism databases

DMDMi23396937.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U35246 mRNA. Translation: AAC50931.1 .
AJ133421 mRNA. Translation: CAB40417.1 .
AF165513 mRNA. Translation: AAF86643.1 .
AK023170 mRNA. Translation: BAB14443.1 .
AL358073 Genomic DNA. Translation: CAI14265.1 .
CH471121 Genomic DNA. Translation: EAW53584.1 .
CH471121 Genomic DNA. Translation: EAW53585.1 .
BC012932 mRNA. Translation: AAH12932.1 .
BC028382 mRNA. Translation: AAH28382.1 .
CCDSi CCDS944.1.
PIRi JC5722.
RefSeqi NP_001266282.1. NM_001279353.1.
NP_001266283.1. NM_001279354.1.
NP_001266284.1. NM_001279355.1.
NP_009190.2. NM_007259.4.
UniGenei Hs.443750.

3D structure databases

ProteinModelPortali Q9NRW7.
SMRi Q9NRW7. Positions 20-549.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116443. 6 interactions.
STRINGi 9606.ENSP00000358126.

PTM databases

PhosphoSitei Q9NRW7.

Polymorphism databases

DMDMi 23396937.

Proteomic databases

MaxQBi Q9NRW7.
PaxDbi Q9NRW7.
PRIDEi Q9NRW7.

Protocols and materials databases

DNASUi 11311.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000369130 ; ENSP00000358126 ; ENSG00000136631 .
GeneIDi 11311.
KEGGi hsa:11311.
UCSCi uc001etp.3. human.

Organism-specific databases

CTDi 11311.
GeneCardsi GC01P150039.
HGNCi HGNC:14579. VPS45.
HPAi HPA027425.
HPA027441.
MIMi 610035. gene.
615285. phenotype.
neXtProti NX_Q9NRW7.
Orphaneti 369852. Recurrent infections-myelofibrosis-nephromegaly syndrome.
PharmGKBi PA37901.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5158.
HOGENOMi HOG000200803.
HOVERGENi HBG059810.
InParanoidi Q9NRW7.
KOi K12479.
OMAi HSSALQX.
OrthoDBi EOG7H791T.
PhylomeDBi Q9NRW7.
TreeFami TF300407.

Enzyme and pathway databases

Reactomei REACT_24970. Factors involved in megakaryocyte development and platelet production.

Miscellaneous databases

GeneWikii VPS45.
GenomeRNAii 11311.
NextBioi 42971.
PROi Q9NRW7.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9NRW7.
Bgeei Q9NRW7.
CleanExi HS_VPS45.
Genevestigatori Q9NRW7.

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 ]
PIRSFi PIRSF005715. VPS45_Sec1. 1 hit.
SUPFAMi SSF56815. SSF56815. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Mammalian homologues of yeast vacuolar protein sorting (vps) genes implicated in Golgi-to-lysosome trafficking."
    Pevsner J., Hsu S.-C., Hyde P.S., Scheller R.H.
    Gene 183:7-14(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Brain.
  2. "Molecular cloning and characterization of a cDNA encoding the human leucocyte vacuolar protein sorting (hlVps45)."
    Rajasekariah P., Eyre H.J., Stanley K.K., Walls R.S., Sutherland G.R.
    Int. J. Biochem. Cell Biol. 31:683-694(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Leukocyte.
  3. "Novel genes expressed in hematopoietic stem/progenitor cells from myelodysplastic syndrome patients."
    Gu J., Huang Q., Yu Y., Xu S., Han Z., Fu G., Zhou J., Wang Y., Huang C., Ren S., Tu Y., Chen Z.
    Submitted (JUL-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Hematopoietic stem cell.
  4. "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].
  5. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "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 and Hippocampus.
  8. "Rabenosyn-5, a novel Rab5 effector, is complexed with hVPS45 and recruited to endosomes through a FYVE finger domain."
    Nielsen E., Christoforidis S., Uttenweiler-Joseph S., Miaczynska M., Dewitte F., Wilm M., Hoflack B., Zerial M.
    J. Cell Biol. 151:601-612(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH ZFYVE20.
  9. "Divalent Rab effectors regulate the sub-compartmental organization and sorting of early endosomes."
    de Renzis S., Soennichsen B., Zerial M.
    Nat. Cell Biol. 4:124-133(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH ZFYVE20.
  10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  11. Cited for: VARIANTS SCN5 ASN-224 AND LYS-238.

Entry informationi

Entry nameiVPS45_HUMAN
AccessioniPrimary (citable) accession number: Q9NRW7
Secondary accession number(s): D3DUZ9
, Q15715, Q5T4P6, Q9Y4Z6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: October 1, 2000
Last modified: September 3, 2014
This is version 117 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 1
    Human chromosome 1: 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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