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Q9NRW7 (VPS45_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 116. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Vacuolar protein sorting-associated protein 45

Short name=h-VPS45
Short name=hlVps45
Gene names
Name:VPS45
Synonyms:VPS45A, VPS45B
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length570 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subunit structure

Interacts with STX6 By similarity. Interacts with ZFYVE20. Ref.8 Ref.9

Subcellular location

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.

Tissue specificity

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.

Involvement in disease

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. Ref.11

Sequence similarities

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 570570Vacuolar protein sorting-associated protein 45
PRO_0000206312

Natural variations

Natural variant2241T → N in SCN5; patient fibroblasts are characterized by impaired motility and increased apoptosis. Ref.11
VAR_069865
Natural variant2381E → K in SCN5. Ref.11
VAR_069866

Experimental info

Sequence conflict81 – 822YI → SL in AAC50931. Ref.1
Sequence conflict921T → S in AAC50931. Ref.1
Sequence conflict1881A → G in AAC50931. Ref.1
Sequence conflict1961T → S in AAC50931. Ref.1
Sequence conflict2191C → L in CAB40417. Ref.2
Sequence conflict2411G → D in AAC50931. Ref.1
Sequence conflict2981K → R in AAC50931. Ref.1
Sequence conflict3701I → V in AAC50931. Ref.1
Sequence conflict3851A → V in AAC50931. Ref.1
Sequence conflict407 – 4082MM → IV in AAC50931. Ref.1
Sequence conflict4121N → S in AAC50931. Ref.1
Sequence conflict4161S → A in AAC50931. Ref.1
Sequence conflict4811R → K in AAC50931. Ref.1
Sequence conflict5371V → I in AAC50931. Ref.1
Sequence conflict5571K → R in AAC50931. Ref.1
Sequence conflict5621V → A in AAC50931. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q9NRW7 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: 5574F0BE3A7D4EB3

FASTA57065,077
        10         20         30         40         50         60 
MNVVFAVKQY ISKMIEDSGP GMKVLLMDKE TTGIVSMVYT QSEILQKEVY LFERIDSQNR 

        70         80         90        100        110        120 
EIMKHLKAIC FLRPTKENVD YIIQELRRPK YTIYFIYFSN VISKSDVKSL AEADEQEVVA 

       130        140        150        160        170        180 
EVQEFYGDYI AVNPHLFSLN ILGCCQGRNW DPAQLSRTTQ GLTALLLSLK KCPMIRYQLS 

       190        200        210        220        230        240 
SEAAKRLAEC VKQVITKEYE LFEFRRTEVP PLLLILDRCD DAITPLLNQW TYQAMVHELL 

       250        260        270        280        290        300 
GINNNRIDLS RVPGISKDLR EVVLSAENDE FYANNMYLNF AEIGSNIKNL MEDFQKKKPK 

       310        320        330        340        350        360 
EQQKLESIAD MKAFVENYPQ FKKMSGTVSK HVTVVGELSR LVSERNLLEV SEVEQELACQ 

       370        380        390        400        410        420 
NDHSSALQNI KRLLQNPKVT EFDAARLVML YALHYERHSS NSLPGLMMDL RNKGVSEKYR 

       430        440        450        460        470        480 
KLVSAVVEYG GKRVRGSDLF SPKDAVAITK QFLKGLKGVE NVYTQHQPFL HETLDHLIKG 

       490        500        510        520        530        540 
RLKENLYPYL GPSTLRDRPQ DIIVFVIGGA TYEEALTVYN LNRTTPGVRI VLGGTTVHNT 

       550        560        570 
KSFLEEVLAS GLHSRSKESS QVTSRSASRR 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[11]"A congenital neutrophil defect syndrome associated with mutations in VPS45."
Vilboux T., Lev A., Malicdan M.C., Simon A.J., Jarvinen P., Racek T., Puchalka J., Sood R., Carrington B., Bishop K., Mullikin J., Huizing M., Garty B.Z., Eyal E., Wolach B., Gavrieli R., Toren A., Soudack M. expand/collapse author list , Atawneh O.M., Babushkin T., Schiby G., Cullinane A., Avivi C., Polak-Charcon S., Barshack I., Amariglio N., Rechavi G., van der Werff ten Bosch J., Anikster Y., Klein C., Gahl W.A., Somech R.
N. Engl. J. Med. 369:54-65(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS SCN5 ASN-224 AND LYS-238.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS944.1.
PIRJC5722.
RefSeqNP_001266282.1. NM_001279353.1.
NP_001266283.1. NM_001279354.1.
NP_001266284.1. NM_001279355.1.
NP_009190.2. NM_007259.4.
UniGeneHs.443750.

3D structure databases

ProteinModelPortalQ9NRW7.
SMRQ9NRW7. Positions 20-549.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116443. 6 interactions.
STRING9606.ENSP00000358126.

PTM databases

PhosphoSiteQ9NRW7.

Polymorphism databases

DMDM23396937.

Proteomic databases

MaxQBQ9NRW7.
PaxDbQ9NRW7.
PRIDEQ9NRW7.

Protocols and materials databases

DNASU11311.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000369130; ENSP00000358126; ENSG00000136631.
GeneID11311.
KEGGhsa:11311.
UCSCuc001etp.3. human.

Organism-specific databases

CTD11311.
GeneCardsGC01P150039.
HGNCHGNC:14579. VPS45.
HPAHPA027425.
HPA027441.
MIM610035. gene.
615285. phenotype.
neXtProtNX_Q9NRW7.
Orphanet369852. Recurrent infections-myelofibrosis-nephromegaly syndrome.
PharmGKBPA37901.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5158.
HOGENOMHOG000200803.
HOVERGENHBG059810.
InParanoidQ9NRW7.
KOK12479.
OMAHSSALQX.
OrthoDBEOG7H791T.
PhylomeDBQ9NRW7.
TreeFamTF300407.

Enzyme and pathway databases

ReactomeREACT_604. Hemostasis.

Gene expression databases

ArrayExpressQ9NRW7.
BgeeQ9NRW7.
CleanExHS_VPS45.
GenevestigatorQ9NRW7.

Family and domain databases

Gene3D3.40.50.1910. 2 hits.
InterProIPR027482. Sec-1-like_dom2.
IPR001619. Sec1-like.
[Graphical view]
PANTHERPTHR11679. PTHR11679. 1 hit.
PfamPF00995. Sec1. 1 hit.
[Graphical view]
PIRSFPIRSF005715. VPS45_Sec1. 1 hit.
SUPFAMSSF56815. SSF56815. 1 hit.
ProtoNetSearch...

Other

GeneWikiVPS45.
GenomeRNAi11311.
NextBio42971.
PROQ9NRW7.
SOURCESearch...

Entry information

Entry nameVPS45_HUMAN
AccessionPrimary (citable) accession number: Q9NRW7
Secondary accession number(s): D3DUZ9 expand/collapse secondary AC list , Q15715, Q5T4P6, Q9Y4Z6
Entry history
Integrated into UniProtKB/Swiss-Prot: September 19, 2002
Last sequence update: October 1, 2000
Last modified: July 9, 2014
This is version 116 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM