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Protein

Phosphofurin acidic cluster sorting protein 1

Gene

PACS1

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

Functioni

Coat protein that is involved in the localization of trans-Golgi network (TGN) membrane proteins that contain acidic cluster sorting motifs. Controls the endosome-to-Golgi trafficking of furin and mannose-6-phosphate receptor by connecting the acidic-cluster-containing cytoplasmic domain of these molecules with the adapter-protein complex-1 (AP-1) of endosomal clathrin-coated membrane pits. Involved in HIV-1 nef-mediated removal of MHC-I from the cell surface to the TGN.2 Publications

GO - Molecular functioni

  • ion channel binding Source: BHF-UCL

GO - Biological processi

  • protein targeting to Golgi Source: Ensembl
  • protein targeting to plasma membrane Source: BHF-UCL
  • regulation of defense response to virus by virus Source: Reactome

Keywordsi

Biological processHost-virus interaction

Enzyme and pathway databases

ReactomeiR-HSA-164940. Nef mediated downregulation of MHC class I complex cell surface expression.
SIGNORiQ6VY07.

Names & Taxonomyi

Protein namesi
Recommended name:
Phosphofurin acidic cluster sorting protein 1
Short name:
PACS-1
Gene namesi
Name:PACS1
Synonyms:KIAA1175
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:30032. PACS1.

Subcellular locationi

  • Golgi apparatustrans-Golgi network By similarity

  • Note: Localizes in the perinuclear region, probably the TGN.1 Publication

GO - Cellular componenti

Keywords - Cellular componenti

Golgi apparatus

Pathology & Biotechi

Involvement in diseasei

Schuurs-Hoeijmakers syndrome (SHMS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndromic form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. SHMS patients have intellectual disability in combination with distinct craniofacial features and genital abnormalities.
See also OMIM:615009
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069534203R → W in SHMS. 1 PublicationCorresponds to variant dbSNP:rs398123009Ensembl.1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi55690.
MalaCardsiPACS1.
MIMi615009. phenotype.
OpenTargetsiENSG00000175115.
Orphaneti329224. Intellectual disability - craniofacial dysmorphism - cryptorchidism.
PharmGKBiPA134989529.

Polymorphism and mutation databases

BioMutaiPACS1.
DMDMi52000804.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00000581712 – 963Phosphofurin acidic cluster sorting protein 1Add BLAST962

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei28PhosphoserineBy similarity1
Modified residuei46PhosphothreonineBy similarity1
Modified residuei251PhosphotyrosineBy similarity1
Modified residuei379PhosphoserineCombined sources1
Modified residuei381PhosphoserineCombined sources1
Modified residuei430PhosphoserineCombined sources1
Modified residuei495PhosphoserineCombined sources1
Modified residuei504PhosphothreonineCombined sources1
Modified residuei519PhosphoserineCombined sources1
Modified residuei528PhosphoserineBy similarity1
Modified residuei529PhosphoserineCombined sources1
Modified residuei531PhosphoserineCombined sources1
Modified residuei534PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ6VY07.
MaxQBiQ6VY07.
PaxDbiQ6VY07.
PeptideAtlasiQ6VY07.
PRIDEiQ6VY07.

PTM databases

iPTMnetiQ6VY07.
PhosphoSitePlusiQ6VY07.

Expressioni

Gene expression databases

BgeeiENSG00000175115.
ExpressionAtlasiQ6VY07. baseline and differential.
GenevisibleiQ6VY07. HS.

Organism-specific databases

HPAiHPA038914.

Interactioni

Subunit structurei

Interacts with HIV-1 Nef (PubMed:10707087, PubMed:12526811, PubMed:18296443). Associates with AP-1 and AP-3 but not with AP-2 complexes (PubMed:11331585). Interacts with FURIN (By similarity). Forms a ternary complex with FURIN and AP-1 (PubMed:11331585). Interacts with NPHP1; the interaction is dependent of NPHP1 phosphorylation by CK2 (PubMed:16308564). Interacts with PKD2 (via acidic region) (PubMed:15692563). Interacts with Epstein_barr virus protein BBLF1 (PubMed:22740416).By similarity6 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • ion channel binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi120816. 10 interactors.
IntActiQ6VY07. 10 interactors.
MINTiMINT-3372090.
STRINGi9606.ENSP00000316454.

Structurei

3D structure databases

ProteinModelPortaliQ6VY07.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni168 – 175Involved in binding to AP-18

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili353 – 377Sequence analysisAdd BLAST25

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi5 – 44Gly-richAdd BLAST40
Compositional biasi35 – 40Poly-Gln6
Compositional biasi55 – 84Ser-richAdd BLAST30
Compositional biasi62 – 65Poly-Ala4
Compositional biasi112 – 115Poly-Ser4
Compositional biasi279 – 283Poly-Glu5

Sequence similaritiesi

Belongs to the PACS family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG3709. Eukaryota.
ENOG410XQNV. LUCA.
GeneTreeiENSGT00390000003281.
HOVERGENiHBG053488.
InParanoidiQ6VY07.
OMAiSTWIKNQ.
OrthoDBiEOG091G02CK.
PhylomeDBiQ6VY07.
TreeFamiTF314240.

Family and domain databases

InterProiView protein in InterPro
IPR019381. Phosphofurin_acidic_CS-1.
PfamiView protein in Pfam
PF10254. Pacs-1. 1 hit.

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. AlignAdd to basket

Isoform 1 (identifier: Q6VY07-1) [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
MAERGGAGGG PGGAGGGSGQ RGSGVAQSPQ QPPPQQQQQQ PPQQPTPPKL
60 70 80 90 100
AQATSSSSST SAAAASSSSS STSTSMAVAV ASGSAPPGGP GPGRTPAPVQ
110 120 130 140 150
MNLYATWEVD RSSSSCVPRL FSLTLKKLVM LKEMDKDLNS VVIAVKLQGS
160 170 180 190 200
KRILRSNEIV LPASGLVETE LQLTFSLQYP HFLKRDANKL QIMLQRRKRY
210 220 230 240 250
KNRTILGYKT LAVGLINMAE VMQHPNEGAL VLGLHSNVKD VSVPVAEIKI
260 270 280 290 300
YSLSSQPIDH EGIKSKLSDR SPDIDNYSEE EEESFSSEQE GSDDPLHGQD
310 320 330 340 350
LFYEDEDLRK VKKTRRKLTS TSAITRQPNI KQKFVALLKR FKVSDEVGFG
360 370 380 390 400
LEHVSREQIR EVEEDLDELY DSLEMYNPSD SGPEMEETES ILSTPKPKLK
410 420 430 440 450
PFFEGMSQSS SQTEIGSLNS KGSLGKDTTS PMELAALEKI KSTWIKNQDD
460 470 480 490 500
SLTETDTLEI TDQDMFGDAS TSLVVPEKVK TPMKSSKTDL QGSASPSKVE
510 520 530 540 550
GVHTPRQKRS TPLKERQLSK PLSERTNSSD SERSPDLGHS TQIPRKVVYD
560 570 580 590 600
QLNQILVSDA ALPENVILVN TTDWQGQYVA ELLQDQRKPV VCTCSTVEVQ
610 620 630 640 650
AVLSALLTRI QRYCNCNSSM PRPVKVAAVG GQSYLSSILR FFVKSLANKT
660 670 680 690 700
SDWLGYMRFL IIPLGSHPVA KYLGSVDSKY SSSFLDSGWR DLFSRSEPPV
710 720 730 740 750
SEQLDVAGRV MQYVNGAATT HQLPVAEAML TCRHKFPDED SYQKFIPFIG
760 770 780 790 800
VVKVGLVEDS PSTAGDGDDS PVVSLTVPST SPPSSSGLSR DATATPPSSP
810 820 830 840 850
SMSSALAIVG SPNSPYGDVI GLQVDYWLGH PGERRREGDK RDASSKNTLK
860 870 880 890 900
SVFRSVQVSR LPHSGEAQLS GTMAMTVVTK EKNKKVPTIF LSKKPREKEV
910 920 930 940 950
DSKSQVIEGI SRLICSAKQQ QTMLRVSIDG VEWSDIKFFQ LAAQWPTHVK
960
HFPVGLFSGS KAT
Length:963
Mass (Da):104,898
Last modified:September 13, 2004 - v2
Checksum:i0F6B2CA24F7CD567
GO
Isoform 2 (identifier: Q6VY07-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     917-963: AKQQQTMLRV...VGLFSGSKAT → SPSLGPSLGP...SQKFLHRTSF

Note: No experimental confirmation available.
Show »
Length:1,008
Mass (Da):109,342
Checksum:i1BA7FD3DBFF57904
GO

Sequence cautioni

The sequence AAH09936 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAB71164 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti171 – 220Missing in BAC04831 (PubMed:14702039).CuratedAdd BLAST50
Sequence conflicti649K → M in BAA91491 (PubMed:14702039).Curated1
Sequence conflicti771P → S in BAC04831 (PubMed:14702039).Curated1
Sequence conflicti803S → N in AAQ67682 (Ref. 1) Curated1
Sequence conflicti882K → L in AAQ67682 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069534203R → W in SHMS. 1 PublicationCorresponds to variant dbSNP:rs398123009Ensembl.1
Natural variantiVAR_053797302F → L. Corresponds to variant dbSNP:rs12798852Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_011557917 – 963AKQQQ…GSKAT → SPSLGPSLGPDPSSQPGFPP AGSFPPCHLPLTNPGSEPLI PDRPCSQEWLRTQGPSPALC TPQPGHLRPTAPLELFSCPL TPSQKFLHRTSF in isoform 2. 1 PublicationAdd BLAST47

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY320283 mRNA. Translation: AAQ67682.1.
AK001071 mRNA. Translation: BAA91491.1.
AK056361 mRNA. Translation: BAB71164.1. Different initiation.
AK096644 mRNA. Translation: BAC04831.1.
BC003173 mRNA. Translation: AAH03173.1.
BC010096 mRNA. Translation: AAH10096.1.
BC009936 mRNA. Translation: AAH09936.1. Different initiation.
BC052577 mRNA. Translation: AAH52577.1.
BC055288 mRNA. Translation: AAH55288.1.
AB033001 mRNA. Translation: BAA86489.1.
CCDSiCCDS8129.1. [Q6VY07-1]
RefSeqiNP_060496.2. NM_018026.3. [Q6VY07-1]
UniGeneiHs.644326.

Genome annotation databases

EnsembliENST00000320580; ENSP00000316454; ENSG00000175115. [Q6VY07-1]
GeneIDi55690.
KEGGihsa:55690.
UCSCiuc001oha.3. human. [Q6VY07-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

Entry informationi

Entry nameiPACS1_HUMAN
AccessioniPrimary (citable) accession number: Q6VY07
Secondary accession number(s): Q6PJY6
, Q6PKB6, Q7Z590, Q7Z5W4, Q8N8K6, Q96MW0, Q9NW92, Q9ULP5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 13, 2004
Last sequence update: September 13, 2004
Last modified: July 5, 2017
This is version 127 of the entry and version 2 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 11
    Human chromosome 11: 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