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Q8N1B4

- VPS52_HUMAN

UniProt

Q8N1B4 - VPS52_HUMAN

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Protein

Vacuolar protein sorting-associated protein 52 homolog

Gene

VPS52

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

Functioni

May be involved in retrograde transport of early and late endosomes to the late Golgi. The GARP complex is required for the maintenance of the cycling of mannose 6-phosphate receptors between the TGN and endosomes, this cycling is necessary for proper lysosomal sorting of acid hydrolases such as CTSD.2 Publications

GO - Biological processi

  1. ectodermal cell differentiation Source: Ensembl
  2. embryonic ectodermal digestive tract development Source: Ensembl
  3. protein transport Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Protein transport, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
Vacuolar protein sorting-associated protein 52 homolog
Alternative name(s):
SAC2 suppressor of actin mutations 2-like protein
Gene namesi
Name:VPS52
Synonyms:SACM2L
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6, UP000005640: Unplaced

Organism-specific databases

HGNCiHGNC:10518. VPS52.

Subcellular locationi

GO - Cellular componenti

  1. endosome Source: UniProtKB-KW
  2. Golgi apparatus Source: UniProtKB-KW
  3. membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Endosome, Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA34926.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed2 Publications
Chaini2 – 723722Vacuolar protein sorting-associated protein 52 homologPRO_0000213315Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine2 Publications

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ8N1B4.
PaxDbiQ8N1B4.
PRIDEiQ8N1B4.

PTM databases

PhosphoSiteiQ8N1B4.

Expressioni

Gene expression databases

BgeeiQ8N1B4.
CleanExiHS_VPS52.
ExpressionAtlasiQ8N1B4. baseline and differential.
GenevestigatoriQ8N1B4.

Organism-specific databases

HPAiHPA042667.
HPA048128.

Interactioni

Subunit structurei

Component of the Golgi-associated retrograde protein (GARP) complex, also called VFT (VPS fifty-three) complex, composed of VPS51, VPS52, VPS53 and VPS54. Interacts with RAB6A and STX10.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
Q9WMX22EBI-2799833,EBI-6863748From a different organism.

Protein-protein interaction databases

BioGridi112200. 17 interactions.
DIPiDIP-57843N.
IntActiQ8N1B4. 5 interactions.
MINTiMINT-3039108.
STRINGi9606.ENSP00000406988.

Structurei

3D structure databases

ProteinModelPortaliQ8N1B4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili107 – 12721Sequence AnalysisAdd
BLAST
Coiled coili194 – 21522Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Belongs to the VPS52 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG296730.
GeneTreeiENSGT00390000008815.
HOVERGENiHBG052966.
InParanoidiQ8N1B4.
OMAiALVDNAC.
PhylomeDBiQ8N1B4.
TreeFamiTF314937.

Family and domain databases

InterProiIPR007258. Vps52.
[Graphical view]
PANTHERiPTHR14190. PTHR14190. 1 hit.
PfamiPF04129. Vps52. 1 hit.
[Graphical view]

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: Q8N1B4-1) [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
MAAAATMAAA ARELVLRAGT SDMEEEEGPL AGGPGLQEPL QLGELDITSD
60 70 80 90 100
EFILDEVDVH IQANLEDELV KEALKTGVDL RHYSKQVELE LQQIEQKSIR
110 120 130 140 150
DYIQESENIA SLHNQITACD AVLERMEQML GAFQSDLSSI SSEIRTLQEQ
160 170 180 190 200
SGAMNIRLRN RQAVRGKLGE LVDGLVVPSA LVTAILEAPV TEPRFLEQLQ
210 220 230 240 250
ELDAKAAAVR EQEARGTAAC ADVRGVLDRL RVKAVTKIRE FILQKIYSFR
260 270 280 290 300
KPMTNYQIPQ TALLKYRFFY QFLLGNERAT AKEIRDEYVE TLSKIYLSYY
310 320 330 340 350
RSYLGRLMKV QYEEVAEKDD LMGVEDTAKK GFFSKPSLRS RNTIFTLGTR
360 370 380 390 400
GSVISPTELE APILVPHTAQ RGEQRYPFEA LFRSQHYALL DNSCREYLFI
410 420 430 440 450
CEFFVVSGPA AHDLFHAVMG RTLSMTLKHL DSYLADCYDA IAVFLCIHIV
460 470 480 490 500
LRFRNIAAKR DVPALDRYWE QVLALLWPRF ELILEMNVQS VRSTDPQRLG
510 520 530 540 550
GLDTRPHYIT RRYAEFSSAL VSINQTIPNE RTMQLLGQLQ VEVENFVLRV
560 570 580 590 600
AAEFSSRKEQ LVFLINNYDM MLGVLMERAA DDSKEVESFQ QLLNARTQEF
610 620 630 640 650
IEELLSPPFG GLVAFVKEAE ALIERGQAER LRGEEARVTQ LIRGFGSSWK
660 670 680 690 700
SSVESLSQDV MRSFTNFRNG TSIIQGALTQ LIQLYHRFHR VLSQPQLRAL
710 720
PARAELINIH HLMVELKKHK PNF
Length:723
Mass (Da):82,221
Last modified:October 1, 2002 - v1
Checksum:iC0961E2BE50B24DF
GO
Isoform 2 (identifier: Q8N1B4-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-125: Missing.

Note: No experimental confirmation available.

Show »
Length:598
Mass (Da):68,496
Checksum:iA5901265E5EEDBC7
GO

Sequence cautioni

The sequence CAI95619.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti710 – 7101H → P in BAD96587. 1 PublicationCurated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 125125Missing in isoform 2. 1 PublicationVSP_056476Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK297935 mRNA. Translation: BAG60251.1.
AK222867 mRNA. Translation: BAD96587.1.
AL645940 Genomic DNA. No translation available.
AL031228 Genomic DNA. Translation: CAI95619.1. Sequence problems.
BX248408 Genomic DNA. Translation: CAM26258.1.
CR762434, CR759817 Genomic DNA. Translation: CAQ06872.1.
CR759817, CR762434 Genomic DNA. Translation: CAQ08020.1.
CR759786 Genomic DNA. Translation: CAQ08250.1.
CH471081 Genomic DNA. Translation: EAX03688.1.
BC032108 mRNA. Translation: AAH32108.1.
BC040114 mRNA. Translation: AAH40114.2.
AL390171 mRNA. Translation: CAB99099.1.
CCDSiCCDS4770.2. [Q8N1B4-1]
PIRiT51882.
RefSeqiNP_001276104.1. NM_001289175.1. [Q8N1B4-2]
NP_001276105.1. NM_001289176.1.
NP_072047.4. NM_022553.5. [Q8N1B4-1]
UniGeneiHs.480356.

Genome annotation databases

EnsembliENST00000383210; ENSP00000372697; ENSG00000206286. [Q8N1B4-1]
ENST00000428608; ENSP00000406988; ENSG00000236014. [Q8N1B4-1]
ENST00000441058; ENSP00000390831; ENSG00000228425. [Q8N1B4-1]
ENST00000443860; ENSP00000404016; ENSG00000224455. [Q8N1B4-1]
ENST00000445902; ENSP00000409952; ENSG00000223501. [Q8N1B4-1]
ENST00000448042; ENSP00000391197; ENSG00000225590. [Q8N1B4-1]
GeneIDi6293.
KEGGihsa:6293.
UCSCiuc003odm.1. human. [Q8N1B4-1]

Polymorphism databases

DMDMi74750887.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK297935 mRNA. Translation: BAG60251.1 .
AK222867 mRNA. Translation: BAD96587.1 .
AL645940 Genomic DNA. No translation available.
AL031228 Genomic DNA. Translation: CAI95619.1 . Sequence problems.
BX248408 Genomic DNA. Translation: CAM26258.1 .
CR762434 , CR759817 Genomic DNA. Translation: CAQ06872.1 .
CR759817 , CR762434 Genomic DNA. Translation: CAQ08020.1 .
CR759786 Genomic DNA. Translation: CAQ08250.1 .
CH471081 Genomic DNA. Translation: EAX03688.1 .
BC032108 mRNA. Translation: AAH32108.1 .
BC040114 mRNA. Translation: AAH40114.2 .
AL390171 mRNA. Translation: CAB99099.1 .
CCDSi CCDS4770.2. [Q8N1B4-1 ]
PIRi T51882.
RefSeqi NP_001276104.1. NM_001289175.1. [Q8N1B4-2 ]
NP_001276105.1. NM_001289176.1.
NP_072047.4. NM_022553.5. [Q8N1B4-1 ]
UniGenei Hs.480356.

3D structure databases

ProteinModelPortali Q8N1B4.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112200. 17 interactions.
DIPi DIP-57843N.
IntActi Q8N1B4. 5 interactions.
MINTi MINT-3039108.
STRINGi 9606.ENSP00000406988.

PTM databases

PhosphoSitei Q8N1B4.

Polymorphism databases

DMDMi 74750887.

Proteomic databases

MaxQBi Q8N1B4.
PaxDbi Q8N1B4.
PRIDEi Q8N1B4.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000383210 ; ENSP00000372697 ; ENSG00000206286 . [Q8N1B4-1 ]
ENST00000428608 ; ENSP00000406988 ; ENSG00000236014 . [Q8N1B4-1 ]
ENST00000441058 ; ENSP00000390831 ; ENSG00000228425 . [Q8N1B4-1 ]
ENST00000443860 ; ENSP00000404016 ; ENSG00000224455 . [Q8N1B4-1 ]
ENST00000445902 ; ENSP00000409952 ; ENSG00000223501 . [Q8N1B4-1 ]
ENST00000448042 ; ENSP00000391197 ; ENSG00000225590 . [Q8N1B4-1 ]
GeneIDi 6293.
KEGGi hsa:6293.
UCSCi uc003odm.1. human. [Q8N1B4-1 ]

Organism-specific databases

CTDi 6293.
GeneCardsi GC06M033218.
GC06Mj33140.
GC06Mk33195.
GC06Mm33388.
GC06Mn33146.
GC06Mo33357.
HGNCi HGNC:10518. VPS52.
HPAi HPA042667.
HPA048128.
MIMi 603443. gene.
neXtProti NX_Q8N1B4.
PharmGKBi PA34926.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG296730.
GeneTreei ENSGT00390000008815.
HOVERGENi HBG052966.
InParanoidi Q8N1B4.
OMAi ALVDNAC.
PhylomeDBi Q8N1B4.
TreeFami TF314937.

Miscellaneous databases

ChiTaRSi VPS52. human.
GeneWikii VPS52.
GenomeRNAii 6293.
NextBioi 24431.
PROi Q8N1B4.
SOURCEi Search...

Gene expression databases

Bgeei Q8N1B4.
CleanExi HS_VPS52.
ExpressionAtlasi Q8N1B4. baseline and differential.
Genevestigatori Q8N1B4.

Family and domain databases

InterProi IPR007258. Vps52.
[Graphical view ]
PANTHERi PTHR14190. PTHR14190. 1 hit.
Pfami PF04129. Vps52. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "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] (ISOFORM 2).
  2. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
    Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Liver.
  3. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "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).
    Tissue: Brain and Colon.
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 255-723 (ISOFORM 1).
    Tissue: Brain.
  7. Cited for: FUNCTION, SUBUNIT, SUBCELLULAR LOCATION, INTERACTION WITH RAB6A AND STX10.
  8. "Requirement of the human GARP complex for mannose 6-phosphate-receptor-dependent sorting of cathepsin D to lysosomes."
    Perez-Victoria F.J., Mardones G.A., Bonifacino J.S.
    Mol. Biol. Cell 19:2350-2362(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION.
  9. "Ang2/fat-free is a conserved subunit of the Golgi-associated retrograde protein complex."
    Perez-Victoria F.J., Schindler C., Magadan J.G., Mardones G.A., Delevoye C., Romao M., Raposo G., Bonifacino J.S.
    Mol. Biol. Cell 21:3386-3395(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH VPS51.
  10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  11. "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
    Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
    Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [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].
  12. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiVPS52_HUMAN
AccessioniPrimary (citable) accession number: Q8N1B4
Secondary accession number(s): A2BF38
, B0UZZ4, B4DNI9, Q53GR4, Q5JPA0, Q5SQW1, Q8IUN6, Q9NPT5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 22, 2005
Last sequence update: October 1, 2002
Last modified: November 26, 2014
This is version 101 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 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3