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Protein

Vacuolar protein sorting-associated protein 45

Gene

VPS45

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

  • blood coagulation Source: Reactome
  • intracellular protein transport Source: UniProtKB
  • vesicle docking involved in exocytosis Source: InterPro

Keywordsi

Biological processProtein transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-6811438 Intra-Golgi traffic
R-HSA-983231 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
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000136631.12
HGNCiHGNC:14579 VPS45
MIMi610035 gene
neXtProtiNX_Q9NRW7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Endosome, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Neutropenia, severe congenital 5, autosomal recessive (SCN5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:615285
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069865224T → N in SCN5; patient fibroblasts are characterized by impaired motility and increased apoptosis. 1 PublicationCorresponds to variant dbSNP:rs879255237EnsemblClinVar.1
Natural variantiVAR_069866238E → K in SCN5. 1 PublicationCorresponds to variant dbSNP:rs782269909EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi11311
MalaCardsiVPS45
MIMi615285 phenotype
OpenTargetsiENSG00000136631
Orphaneti369852 Recurrent infections-myelofibrosis-nephromegaly syndrome
PharmGKBiPA37901

Polymorphism and mutation databases

BioMutaiVPS45
DMDMi23396937

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002063121 – 570Vacuolar protein sorting-associated protein 45Add BLAST570

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei307PhosphoserineCombined sources1
Modified residuei441PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9NRW7
MaxQBiQ9NRW7
PaxDbiQ9NRW7
PeptideAtlasiQ9NRW7
PRIDEiQ9NRW7
ProteomicsDBi82431

PTM databases

iPTMnetiQ9NRW7
PhosphoSitePlusiQ9NRW7

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

BgeeiENSG00000136631
CleanExiHS_VPS45
ExpressionAtlasiQ9NRW7 baseline and differential
GenevisibleiQ9NRW7 HS

Organism-specific databases

HPAiHPA027425
HPA027441

Interactioni

Subunit structurei

Interacts with STX6 (By similarity). Interacts with ZFYVE20.By similarity2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
RBSNQ9H1K03EBI-1782543,EBI-1105310

Protein-protein interaction databases

BioGridi116443, 34 interactors
DIPiDIP-46823N
IntActiQ9NRW7, 21 interactors
MINTiQ9NRW7
STRINGi9606.ENSP00000358126

Structurei

3D structure databases

ProteinModelPortaliQ9NRW7
SMRiQ9NRW7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiKOG1299 Eukaryota
COG5158 LUCA
GeneTreeiENSGT00550000075028
HOGENOMiHOG000200803
HOVERGENiHBG059810
InParanoidiQ9NRW7
KOiK12479
OMAiIADMKNF
OrthoDBiEOG091G05OR
PhylomeDBiQ9NRW7
TreeFamiTF300407

Family and domain databases

Gene3Di3.40.50.1910, 2 hits
InterProiView protein in InterPro
IPR027482 Sec-1-like_dom2
IPR001619 Sec1-like
IPR036045 Sec1-like_sf
PANTHERiPTHR11679 PTHR11679, 1 hit
PfamiView protein in Pfam
PF00995 Sec1, 1 hit
PIRSFiPIRSF005715 VPS45_Sec1, 1 hit
SUPFAMiSSF56815 SSF56815, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NRW7-1) [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
MNVVFAVKQY ISKMIEDSGP GMKVLLMDKE TTGIVSMVYT QSEILQKEVY
60 70 80 90 100
LFERIDSQNR EIMKHLKAIC FLRPTKENVD YIIQELRRPK YTIYFIYFSN
110 120 130 140 150
VISKSDVKSL AEADEQEVVA EVQEFYGDYI AVNPHLFSLN ILGCCQGRNW
160 170 180 190 200
DPAQLSRTTQ GLTALLLSLK KCPMIRYQLS SEAAKRLAEC VKQVITKEYE
210 220 230 240 250
LFEFRRTEVP PLLLILDRCD DAITPLLNQW TYQAMVHELL GINNNRIDLS
260 270 280 290 300
RVPGISKDLR EVVLSAENDE FYANNMYLNF AEIGSNIKNL MEDFQKKKPK
310 320 330 340 350
EQQKLESIAD MKAFVENYPQ FKKMSGTVSK HVTVVGELSR LVSERNLLEV
360 370 380 390 400
SEVEQELACQ NDHSSALQNI KRLLQNPKVT EFDAARLVML YALHYERHSS
410 420 430 440 450
NSLPGLMMDL RNKGVSEKYR KLVSAVVEYG GKRVRGSDLF SPKDAVAITK
460 470 480 490 500
QFLKGLKGVE NVYTQHQPFL HETLDHLIKG RLKENLYPYL GPSTLRDRPQ
510 520 530 540 550
DIIVFVIGGA TYEEALTVYN LNRTTPGVRI VLGGTTVHNT KSFLEEVLAS
560 570
GLHSRSKESS QVTSRSASRR
Length:570
Mass (Da):65,077
Last modified:October 1, 2000 - v1
Checksum:i5574F0BE3A7D4EB3
GO
Isoform 2 (identifier: Q9NRW7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-36: Missing.
     124-192: Missing.
     542-570: SFLEEVLASGLHSRSKESSQVTSRSASRR → RDGVSLCSPA...LCWLLELISR

Show »
Length:538
Mass (Da):61,983
Checksum:i7EAE64A2BB3349E6
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti81 – 82YI → SL in AAC50931 (PubMed:8996080).Curated2
Sequence conflicti92T → S in AAC50931 (PubMed:8996080).Curated1
Sequence conflicti163T → A in BAD96934 (Ref. 5) Curated1
Sequence conflicti188A → G in AAC50931 (PubMed:8996080).Curated1
Sequence conflicti196T → S in AAC50931 (PubMed:8996080).Curated1
Sequence conflicti219C → L in CAB40417 (PubMed:10404641).Curated1
Sequence conflicti241G → D in AAC50931 (PubMed:8996080).Curated1
Sequence conflicti298K → R in AAC50931 (PubMed:8996080).Curated1
Sequence conflicti370I → V in AAC50931 (PubMed:8996080).Curated1
Sequence conflicti385A → V in AAC50931 (PubMed:8996080).Curated1
Sequence conflicti407 – 408MM → IV in AAC50931 (PubMed:8996080).Curated2
Sequence conflicti412N → H in BAD96934 (Ref. 5) Curated1
Sequence conflicti412N → S in AAC50931 (PubMed:8996080).Curated1
Sequence conflicti416S → A in AAC50931 (PubMed:8996080).Curated1
Sequence conflicti481R → K in AAC50931 (PubMed:8996080).Curated1
Sequence conflicti537V → I in AAC50931 (PubMed:8996080).Curated1
Sequence conflicti557K → R in AAC50931 (PubMed:8996080).Curated1
Sequence conflicti562V → A in AAC50931 (PubMed:8996080).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069865224T → N in SCN5; patient fibroblasts are characterized by impaired motility and increased apoptosis. 1 PublicationCorresponds to variant dbSNP:rs879255237EnsemblClinVar.1
Natural variantiVAR_069866238E → K in SCN5. 1 PublicationCorresponds to variant dbSNP:rs782269909EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0567391 – 36Missing in isoform 2. CuratedAdd BLAST36
Alternative sequenceiVSP_056740124 – 192Missing in isoform 2. CuratedAdd BLAST69
Alternative sequenceiVSP_056741542 – 570SFLEE…SASRR → RDGVSLCSPAWFRTPGLKRS TRLSLPKCWDYSFPRGSSGF WTAQPKQGELSSHIKVSEQK MKRWLGEGHSFLSCPHYRFS LLNKGVGEQLWVLCWLLELI SR in isoform 2. CuratedAdd BLAST29

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U35246 mRNA Translation: AAC50931.1
AJ133421 mRNA Translation: CAB40417.1
AF165513 mRNA Translation: AAF86643.1
AK023170 mRNA Translation: BAB14443.1
AK223214 mRNA Translation: BAD96934.1
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
CCDSiCCDS60244.1 [Q9NRW7-2]
CCDS944.1 [Q9NRW7-1]
PIRiJC5722
RefSeqiNP_001266282.1, NM_001279353.1 [Q9NRW7-2]
NP_001266283.1, NM_001279354.1
NP_009190.2, NM_007259.4 [Q9NRW7-1]
UniGeneiHs.443750

Genome annotation databases

EnsembliENST00000369128; ENSP00000358124; ENSG00000136631 [Q9NRW7-2]
ENST00000369130; ENSP00000358126; ENSG00000136631 [Q9NRW7-1]
ENST00000535106; ENSP00000440690; ENSG00000136631 [Q9NRW7-2]
ENST00000644510; ENSP00000495563; ENSG00000136631 [Q9NRW7-1]
GeneIDi11311
KEGGihsa:11311
UCSCiuc001etp.5 human [Q9NRW7-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiVPS45_HUMAN
AccessioniPrimary (citable) accession number: Q9NRW7
Secondary accession number(s): D3DUZ9
, F5H8K1, Q15715, Q53FR8, Q5T4P6, Q9Y4Z6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: October 1, 2000
Last modified: June 20, 2018
This is version 150 of the entry and version 1 of the sequence. See 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

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