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Protein

Phosphofurin acidic cluster sorting protein 2

Gene

PACS2

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

Functioni

Multifunctional sorting protein that controls the endoplasmic reticulum (ER)-mitochondria communication, including the apposition of mitochondria with the ER and ER homeostasis. In addition, in response to apoptic inducer, translocates BIB to mitochondria, which initiates a sequence of events including the formation of mitochondrial truncated BID, the release of cytochrome c, the activation of caspase-3 thereby causing cell death. May also be involved in ion channel trafficking, directing acidic cluster-containing ion channels to distinct subcellular compartments.2 Publications

GO - Molecular functioni

GO - Biological processi

  • apoptotic process Source: UniProtKB-KW
  • autophagosome assembly Source: MGI
  • protein localization to pre-autophagosomal structure Source: MGI
  • protein targeting to plasma membrane Source: BHF-UCL
  • viral process Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Apoptosis, Host-virus interaction

Protein family/group databases

TCDBi1.A.5.1.1. the polycystin cation channel (pcc) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Phosphofurin acidic cluster sorting protein 2
Short name:
PACS-2
Alternative name(s):
PACS1-like protein
Gene namesi
Name:PACS2
Synonyms:KIAA0602, PACS1L
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:23794. PACS2.

Subcellular locationi

GO - Cellular componenti

  • endoplasmic reticulum Source: BHF-UCL
  • endoplasmic reticulum lumen Source: UniProtKB-SubCell
  • mitochondrion Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Mitochondrion

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134941470.

Polymorphism and mutation databases

BioMutaiPACS2.
DMDMi117949768.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 889889Phosphofurin acidic cluster sorting protein 2PRO_0000259511Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei390 – 3901PhosphoserineBy similarity
Modified residuei416 – 4161PhosphoserineCombined sources
Modified residuei453 – 4531PhosphoserineCombined sources
Modified residuei691 – 6911PhosphoserineBy similarity
Modified residuei694 – 6941PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ86VP3.
MaxQBiQ86VP3.
PaxDbiQ86VP3.
PeptideAtlasiQ86VP3.
PRIDEiQ86VP3.

PTM databases

iPTMnetiQ86VP3.
PhosphoSiteiQ86VP3.

Expressioni

Tissue specificityi

Broadly expressed, with greatest levels in skeletal muscle followed by heart, brain, pancreas and testis.1 Publication

Gene expression databases

BgeeiQ86VP3.
CleanExiHS_PACS2.
ExpressionAtlasiQ86VP3. baseline and differential.
GenevisibleiQ86VP3. HS.

Organism-specific databases

HPAiHPA001423.

Interactioni

Subunit structurei

Interacts with BID and PKD2. Interacts with HIV-1 Nef.3 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi116845. 11 interactions.
IntActiQ86VP3. 9 interactions.
MINTiMINT-2796645.
STRINGi9606.ENSP00000393559.

Structurei

3D structure databases

ProteinModelPortaliQ86VP3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the PACS family.Curated

Phylogenomic databases

eggNOGiKOG3709. Eukaryota.
ENOG410XQNV. LUCA.
GeneTreeiENSGT00390000003281.
HOGENOMiHOG000047329.
HOVERGENiHBG053488.
InParanoidiQ86VP3.
OMAiNERCPDA.
PhylomeDBiQ86VP3.

Family and domain databases

InterProiIPR019381. Phosphofurin_acidic_CS-1.
[Graphical view]
PfamiPF10254. Pacs-1. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q86VP3-1) [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
MAERGRLGLP GAPGALNTPV PMNLFATWEV DGSSPSCVPR LCSLTLKKLV
60 70 80 90 100
VFKELEKELI SVVIAVKMQG SKRILRSHEI VLPPSGQVET DLALTFSLQY
110 120 130 140 150
PHFLKREGNK LQIMLQRRKR YKNRTILGYK TLAAGSISMA EVMQHPSEGG
160 170 180 190 200
QVLSLCSSIK EAPVKAAEIW IASLSSQPID HEDSTMQAGP KAKSTDNYSE
210 220 230 240 250
EEYESFSSEQ EASDDAVQGQ DLDEDDFDVG KPKKQRRSIV RTTSMTRQQN
260 270 280 290 300
FKQKVVALLR RFKVSDEVLD SEQDPAEHIP EAEEDLDLLY DTLDMEHPSD
310 320 330 340 350
SGPDMEDDDS VLSTPKPKLR PYFEGLSHSS SQTEIGSIHS ARSHKEPPSP
360 370 380 390 400
ADVPEKTRSL GGRQPSDSVS DTVALGVPGP REHPGQPEDS PEAEASTLDV
410 420 430 440 450
FTERLPPSGR ITKTESLVIP STRSEGKQAG RRGRSTSLKE RQAARPQNER
460 470 480 490 500
ANSLDNERCP DARSQLQIPR KTVYDQLNHI LISDDQLPEN IILVNTSDWQ
510 520 530 540 550
GQFLSDVLQR HTLPVVCTCS PADVQAAFST IVSRIQRYCN CNSQPPTPVK
560 570 580 590 600
IAVAGAQHYL SAILRLFVEQ LSHKTPDWLG YMRFLVIPLG SHPVARYLGS
610 620 630 640 650
VDYRYNNFFQ DLAWRDLFNK LEAQSAVQDT PDIVSRITQY IAGANCAHQL
660 670 680 690 700
PIAEAMLTYK QKSPDEESSQ KFIPFVGVVK VGIVEPSSAT SGDSDDAAPS
710 720 730 740 750
GSGTLSSTPP SASPAAKEAS PTPPSSPSVS GGLSSPSQGV GAELMGLQVD
760 770 780 790 800
YWTAAQPADR KRDAEKKDLP VTKNTLKCTF RSLQVSRLPS SGEAAATPTM
810 820 830 840 850
SMTVVTKEKN KKVMFLPKKA KDKDVESKSQ CIEGISRLIC TARQQQNMLR
860 870 880
VLIDGVECSD VKFFQLAAQW SSHVKHFPIC IFGHSKATF
Length:889
Mass (Da):97,702
Last modified:October 31, 2006 - v3
Checksum:i0AAFC1515B13A58D
GO
Isoform 2 (identifier: Q86VP3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     467-467: Q → QVQLQ
     662-662: K → KRKKHFHFDFTL

Note: No experimental confirmation available.
Show »
Length:904
Mass (Da):99,629
Checksum:i54B892ECAFB80C37
GO
Isoform 3 (identifier: Q86VP3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-39: MAERGRLGLP...VDGSSPSCVP → TGTGTTAGTR...GLRRNPSGAY
     240-247: Missing.

Note: No experimental confirmation available. Incomplete sequence.
Show »
Length:890
Mass (Da):97,503
Checksum:i09EC98BEB9B3FC4E
GO
Isoform 4 (identifier: Q86VP3-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-67: Missing.
     240-247: Missing.

Note: No experimental confirmation available.
Show »
Length:814
Mass (Da):89,609
Checksum:iE83CD443E34EC58D
GO

Sequence cautioni

The sequence BAA25528.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti13 – 131P → L in AAQ83882 (PubMed:15692567).Curated
Sequence conflicti168 – 1681E → D in AAH50351 (PubMed:15489334).Curated
Sequence conflicti266 – 2661D → G in AAH50351 (PubMed:15489334).Curated
Sequence conflicti469 – 4691P → H in AAH50351 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti185 – 1851T → A.
Corresponds to variant rs8010888 [ dbSNP | Ensembl ].
VAR_028947
Natural varianti493 – 4931L → S.
Corresponds to variant rs4076933 [ dbSNP | Ensembl ].
VAR_053798

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 6767Missing in isoform 4. CuratedVSP_053815Add
BLAST
Alternative sequencei1 – 3939MAERG…PSCVP → TGTGTTAGTRGLEPRPPHCE RAGLPCGAPASEGRPAGAGL RRNPSGAY in isoform 3. 1 PublicationVSP_030293Add
BLAST
Alternative sequencei240 – 2478Missing in isoform 3 and isoform 4. 1 PublicationVSP_030294
Alternative sequencei467 – 4671Q → QVQLQ in isoform 2. 1 PublicationVSP_021409
Alternative sequencei662 – 6621K → KRKKHFHFDFTL in isoform 2. 1 PublicationVSP_021410

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY320284 mRNA. Translation: AAQ83882.2.
AB011174 mRNA. Translation: BAA25528.1. Different initiation.
AL512355 Genomic DNA. No translation available.
AL928654 Genomic DNA. No translation available.
BC010663 mRNA. Translation: AAH10663.1.
BC050351 mRNA. Translation: AAH50351.2.
BC065220 mRNA. Translation: AAH65220.2.
BC131591 mRNA. Translation: AAI31592.1.
CCDSiCCDS32168.1. [Q86VP3-1]
CCDS45178.2. [Q86VP3-2]
CCDS58339.1. [Q86VP3-4]
PIRiT00262.
RefSeqiNP_001094383.2. NM_001100913.2. [Q86VP3-2]
NP_001230056.1. NM_001243127.2. [Q86VP3-4]
NP_056012.2. NM_015197.3. [Q86VP3-1]
UniGeneiHs.525626.

Genome annotation databases

EnsembliENST00000325438; ENSP00000321834; ENSG00000179364. [Q86VP3-1]
ENST00000430725; ENSP00000393524; ENSG00000179364. [Q86VP3-4]
ENST00000447393; ENSP00000393559; ENSG00000179364. [Q86VP3-2]
GeneIDi23241.
KEGGihsa:23241.
UCSCiuc001yqs.4. human. [Q86VP3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY320284 mRNA. Translation: AAQ83882.2.
AB011174 mRNA. Translation: BAA25528.1. Different initiation.
AL512355 Genomic DNA. No translation available.
AL928654 Genomic DNA. No translation available.
BC010663 mRNA. Translation: AAH10663.1.
BC050351 mRNA. Translation: AAH50351.2.
BC065220 mRNA. Translation: AAH65220.2.
BC131591 mRNA. Translation: AAI31592.1.
CCDSiCCDS32168.1. [Q86VP3-1]
CCDS45178.2. [Q86VP3-2]
CCDS58339.1. [Q86VP3-4]
PIRiT00262.
RefSeqiNP_001094383.2. NM_001100913.2. [Q86VP3-2]
NP_001230056.1. NM_001243127.2. [Q86VP3-4]
NP_056012.2. NM_015197.3. [Q86VP3-1]
UniGeneiHs.525626.

3D structure databases

ProteinModelPortaliQ86VP3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116845. 11 interactions.
IntActiQ86VP3. 9 interactions.
MINTiMINT-2796645.
STRINGi9606.ENSP00000393559.

Protein family/group databases

TCDBi1.A.5.1.1. the polycystin cation channel (pcc) family.

PTM databases

iPTMnetiQ86VP3.
PhosphoSiteiQ86VP3.

Polymorphism and mutation databases

BioMutaiPACS2.
DMDMi117949768.

Proteomic databases

EPDiQ86VP3.
MaxQBiQ86VP3.
PaxDbiQ86VP3.
PeptideAtlasiQ86VP3.
PRIDEiQ86VP3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000325438; ENSP00000321834; ENSG00000179364. [Q86VP3-1]
ENST00000430725; ENSP00000393524; ENSG00000179364. [Q86VP3-4]
ENST00000447393; ENSP00000393559; ENSG00000179364. [Q86VP3-2]
GeneIDi23241.
KEGGihsa:23241.
UCSCiuc001yqs.4. human. [Q86VP3-1]

Organism-specific databases

CTDi23241.
GeneCardsiPACS2.
HGNCiHGNC:23794. PACS2.
HPAiHPA001423.
MIMi610423. gene.
neXtProtiNX_Q86VP3.
PharmGKBiPA134941470.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3709. Eukaryota.
ENOG410XQNV. LUCA.
GeneTreeiENSGT00390000003281.
HOGENOMiHOG000047329.
HOVERGENiHBG053488.
InParanoidiQ86VP3.
OMAiNERCPDA.
PhylomeDBiQ86VP3.

Miscellaneous databases

ChiTaRSiPACS2. human.
GenomeRNAii23241.
PROiQ86VP3.
SOURCEiSearch...

Gene expression databases

BgeeiQ86VP3.
CleanExiHS_PACS2.
ExpressionAtlasiQ86VP3. baseline and differential.
GenevisibleiQ86VP3. HS.

Family and domain databases

InterProiIPR019381. Phosphofurin_acidic_CS-1.
[Graphical view]
PfamiPF10254. Pacs-1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "PACS-2 controls endoplasmic reticulum-mitochondria communication and Bid-mediated apoptosis."
    Simmen T., Aslan J.E., Blagoveshchenskaya A.D., Thomas L., Wan L., Xiang Y., Feliciangeli S.F., Hung C.-H., Crump C.M., Thomas G.
    EMBO J. 24:717-729(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, INTERACTION WITH BID, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    Tissue: Brain.
  2. Xiang Y., Wan L., Simmen T., Thomas G.
    Submitted (AUG-2007) to the EMBL/GenBank/DDBJ databases
    Cited for: SEQUENCE REVISION TO 479; 508; 540 AND 714.
  3. "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
    Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 5:31-39(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Brain.
  4. "The DNA sequence and analysis of human chromosome 14."
    Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
    , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
    Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
    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] (ISOFORMS 1 AND 3).
    Tissue: Eye and Hippocampus.
  6. Cited for: FUNCTION, INTERACTION WITH PKD2.
  7. "HIV-1 Nef binds PACS-2 to assemble a multikinase cascade that triggers major histocompatibility complex class I (MHC-I) down-regulation: analysis using short interfering RNA and knock-out mice."
    Atkins K.M., Thomas L., Youker R.T., Harriff M.J., Pissani F., You H., Thomas G.
    J. Biol. Chem. 283:11772-11784(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH HIV-1 NEF.
  8. "Toward a comprehensive characterization of a human cancer cell phosphoproteome."
    Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J., Mohammed S.
    J. Proteome Res. 12:260-271(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-416, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Erythroleukemia.
  9. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
    Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., Ye M., Zou H.
    J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-416 AND SER-453, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Liver.

Entry informationi

Entry nameiPACS2_HUMAN
AccessioniPrimary (citable) accession number: Q86VP3
Secondary accession number(s): A2VDJ9
, G8JLK3, O60342, Q6P191, Q96FL7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: October 31, 2006
Last modified: July 6, 2016
This is version 103 of the entry and version 3 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 14
    Human chromosome 14: 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

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.