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Protein

Phosphofurin acidic cluster sorting protein 2

Gene

PACS2

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

  • ion channel binding Source: GO_Central

GO - Biological processi

  • apoptotic process Source: UniProtKB-KW
  • autophagosome assembly Source: MGI
  • protein localization to phagophore assembly site Source: MGI
  • protein localization to plasma membrane Source: BHF-UCL
  • viral process Source: UniProtKB-KW

Keywordsi

Biological processApoptosis, 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

EuPathDBiHostDB:ENSG00000179364.13
HGNCiHGNC:23794 PACS2
MIMi610423 gene
neXtProtiNX_Q86VP3

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

Endoplasmic reticulum, Mitochondrion

Pathology & Biotechi

Organism-specific databases

DisGeNETi23241
OpenTargetsiENSG00000179364
PharmGKBiPA134941470

Polymorphism and mutation databases

BioMutaiPACS2
DMDMi117949768

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002595111 – 889Phosphofurin acidic cluster sorting protein 2Add BLAST889

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei390PhosphoserineBy similarity1
Modified residuei416PhosphoserineCombined sources1
Modified residuei453PhosphoserineCombined sources1
Modified residuei691PhosphoserineBy similarity1
Modified residuei694PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ86VP3
MaxQBiQ86VP3
PaxDbiQ86VP3
PeptideAtlasiQ86VP3
PRIDEiQ86VP3
ProteomicsDBi70048
70049 [Q86VP3-2]
70050 [Q86VP3-3]

PTM databases

iPTMnetiQ86VP3
PhosphoSitePlusiQ86VP3

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000179364 Expressed in 224 organ(s), highest expression level in C1 segment of cervical spinal cord
CleanExiHS_PACS2
ExpressionAtlasiQ86VP3 baseline and differential
GenevisibleiQ86VP3 HS

Organism-specific databases

HPAiHPA001423
HPA077892

Interactioni

Subunit structurei

Interacts with BID and PKD2 (PubMed:15692567, PubMed:15692563).3 Publications
(Microbial infection) Interacts with HIV-1 Nef.1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi116845, 12 interactors
ELMiQ86VP3
IntActiQ86VP3, 9 interactors
MINTiQ86VP3
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
OMAiHHLQIPR
OrthoDBiEOG091G02CK
PhylomeDBiQ86VP3

Family and domain databases

InterProiView protein in InterPro
IPR019381 Phosphofurin_acidic_CS-1
PANTHERiPTHR13280 PTHR13280, 1 hit
PfamiView protein in Pfam
PF10254 Pacs-1, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

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

This entry has 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8VW41F8VW41_HUMAN
Phosphofurin acidic cluster sorting...
PACS2
859Annotation score:
F8W0B1F8W0B1_HUMAN
Phosphofurin acidic cluster sorting...
PACS2
86Annotation score:

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti13P → L in AAQ83882 (PubMed:15692567).Curated1
Sequence conflicti168E → D in AAH50351 (PubMed:15489334).Curated1
Sequence conflicti266D → G in AAH50351 (PubMed:15489334).Curated1
Sequence conflicti469P → H in AAH50351 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_028947185T → A. Corresponds to variant dbSNP:rs8010888Ensembl.1
Natural variantiVAR_053798493L → S. Corresponds to variant dbSNP:rs4076933Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0538151 – 67Missing in isoform 4. CuratedAdd BLAST67
Alternative sequenceiVSP_0302931 – 39MAERG…PSCVP → TGTGTTAGTRGLEPRPPHCE RAGLPCGAPASEGRPAGAGL RRNPSGAY in isoform 3. 1 PublicationAdd BLAST39
Alternative sequenceiVSP_030294240 – 247Missing in isoform 3 and isoform 4. 1 Publication8
Alternative sequenceiVSP_021409467Q → QVQLQ in isoform 2. 1 Publication1
Alternative sequenceiVSP_021410662K → KRKKHFHFDFTL in isoform 2. 1 Publication1

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

Similar proteinsi

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, 12 interactors
ELMiQ86VP3
IntActiQ86VP3, 9 interactors
MINTiQ86VP3
STRINGi9606.ENSP00000393559

Protein family/group databases

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

PTM databases

iPTMnetiQ86VP3
PhosphoSitePlusiQ86VP3

Polymorphism and mutation databases

BioMutaiPACS2
DMDMi117949768

Proteomic databases

EPDiQ86VP3
MaxQBiQ86VP3
PaxDbiQ86VP3
PeptideAtlasiQ86VP3
PRIDEiQ86VP3
ProteomicsDBi70048
70049 [Q86VP3-2]
70050 [Q86VP3-3]

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
DisGeNETi23241
EuPathDBiHostDB:ENSG00000179364.13
GeneCardsiPACS2
HGNCiHGNC:23794 PACS2
HPAiHPA001423
HPA077892
MIMi610423 gene
neXtProtiNX_Q86VP3
OpenTargetsiENSG00000179364
PharmGKBiPA134941470
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3709 Eukaryota
ENOG410XQNV LUCA
GeneTreeiENSGT00390000003281
HOGENOMiHOG000047329
HOVERGENiHBG053488
InParanoidiQ86VP3
OMAiHHLQIPR
OrthoDBiEOG091G02CK
PhylomeDBiQ86VP3

Miscellaneous databases

ChiTaRSiPACS2 human
GenomeRNAii23241
PROiPR:Q86VP3
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000179364 Expressed in 224 organ(s), highest expression level in C1 segment of cervical spinal cord
CleanExiHS_PACS2
ExpressionAtlasiQ86VP3 baseline and differential
GenevisibleiQ86VP3 HS

Family and domain databases

InterProiView protein in InterPro
IPR019381 Phosphofurin_acidic_CS-1
PANTHERiPTHR13280 PTHR13280, 1 hit
PfamiView protein in Pfam
PF10254 Pacs-1, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPACS2_HUMAN
AccessioniPrimary (citable) accession number: Q86VP3
Secondary accession number(s): A2VDJ9
, G8JLK3, O60342, Q6P191, Q96FL7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: October 31, 2006
Last modified: November 7, 2018
This is version 120 of the entry and version 3 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
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