Phosphofurin acidic cluster sorting protein 2

Preferred order of sections

Names and origin

Protein names

Recommended name:
Phosphofurin acidic cluster sorting protein 2
Short name=PACS-2

Alternative name(s):
PACS1-like protein

Gene names

Name:	PACS2
Synonyms:	KIAA0602, PACS1L

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	889 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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. Ref.1 Ref.5
Subunit structure	Interacts with BID and PKD2. Interacts with HIV-1 Nef. Ref.1 Ref.5 Ref.7
Subcellular location	Endoplasmic reticulum lumen. Mitochondrion Ref.1.
Tissue specificity	Broadly expressed, with greatest levels in skeletal muscle followed by heart, brain, pancreas and testis. Ref.1
Sequence similarities	Belongs to the PACS family.
Sequence caution	The sequence BAA25528.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Apoptosis Host-virus interaction
Cellular component	Endoplasmic reticulum Mitochondrion
Coding sequence diversity	Alternative splicing Polymorphism
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	apoptotic process Inferred from electronic annotation. Source: UniProtKB-KW interspecies interaction between organisms Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	endoplasmic reticulum lumen Inferred from electronic annotation. Source: UniProtKB-SubCell mitochondrion Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q86VP3-1) 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.

Isoform 2 (identifier: Q86VP3-2) 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.

Isoform 3 (identifier: Q86VP3-3) 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.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 889

889

Phosphofurin acidic cluster sorting protein 2

PRO_0000259511

Amino acid modifications

Modified residue

343

1

Phosphoserine By similarity

Modified residue

349

1

Phosphoserine Ref.6

Natural variations

Alternative sequence

1 – 39

39

MAERG…PSCVP → TGTGTTAGTRGLEPRPPHCE RAGLPCGAPASEGRPAGAGL RRNPSGAY in isoform 3.

VSP_030293

Alternative sequence

240 – 247

8

Missing in isoform 3.

VSP_030294

Alternative sequence

467

1

Q → QVQLQ in isoform 2.

VSP_021409

Alternative sequence

662

1

K → KRKKHFHFDFTL in isoform 2.

VSP_021410

Natural variant

185

1

T → A.
Corresponds to variant rs8010888 [ dbSNP | Ensembl ].

VAR_028947

Natural variant

493

1

L → S.
Corresponds to variant rs4076933 [ dbSNP | Ensembl ].

VAR_053798

Experimental info

Sequence conflict

13

1

P → L in AAQ83882. Ref.1

Sequence conflict

168

1

E → D in AAH50351. Ref.4

Sequence conflict

266

1

D → G in AAH50351. Ref.4

Sequence conflict

469

1

P → H in AAH50351. Ref.4

Sequences

Sequence		Length	Mass (Da)
Isoform 1 [UniParc]. Last modified October 31, 2006. Version 3. Checksum: 0AAFC1515B13A58D Show »	FASTA	889	97,702
10 20 30 40 50 60 MAERGRLGLP GAPGALNTPV PMNLFATWEV DGSSPSCVPR LCSLTLKKLV VFKELEKELI 70 80 90 100 110 120 SVVIAVKMQG SKRILRSHEI VLPPSGQVET DLALTFSLQY PHFLKREGNK LQIMLQRRKR 130 140 150 160 170 180 YKNRTILGYK TLAAGSISMA EVMQHPSEGG QVLSLCSSIK EAPVKAAEIW IASLSSQPID 190 200 210 220 230 240 HEDSTMQAGP KAKSTDNYSE EEYESFSSEQ EASDDAVQGQ DLDEDDFDVG KPKKQRRSIV 250 260 270 280 290 300 RTTSMTRQQN FKQKVVALLR RFKVSDEVLD SEQDPAEHIP EAEEDLDLLY DTLDMEHPSD 310 320 330 340 350 360 SGPDMEDDDS VLSTPKPKLR PYFEGLSHSS SQTEIGSIHS ARSHKEPPSP ADVPEKTRSL 370 380 390 400 410 420 GGRQPSDSVS DTVALGVPGP REHPGQPEDS PEAEASTLDV FTERLPPSGR ITKTESLVIP 430 440 450 460 470 480 STRSEGKQAG RRGRSTSLKE RQAARPQNER ANSLDNERCP DARSQLQIPR KTVYDQLNHI 490 500 510 520 530 540 LISDDQLPEN IILVNTSDWQ GQFLSDVLQR HTLPVVCTCS PADVQAAFST IVSRIQRYCN 550 560 570 580 590 600 CNSQPPTPVK IAVAGAQHYL SAILRLFVEQ LSHKTPDWLG YMRFLVIPLG SHPVARYLGS 610 620 630 640 650 660 VDYRYNNFFQ DLAWRDLFNK LEAQSAVQDT PDIVSRITQY IAGANCAHQL PIAEAMLTYK 670 680 690 700 710 720 QKSPDEESSQ KFIPFVGVVK VGIVEPSSAT SGDSDDAAPS GSGTLSSTPP SASPAAKEAS 730 740 750 760 770 780 PTPPSSPSVS GGLSSPSQGV GAELMGLQVD YWTAAQPADR KRDAEKKDLP VTKNTLKCTF 790 800 810 820 830 840 RSLQVSRLPS SGEAAATPTM SMTVVTKEKN KKVMFLPKKA KDKDVESKSQ CIEGISRLIC 850 860 870 880 TARQQQNMLR VLIDGVECSD VKFFQLAAQW SSHVKHFPIC IFGHSKATF « Hide
Isoform 2 [UniParc]. Checksum: 54B892ECAFB80C37 Show »	FASTA	904	99,629
10 20 30 40 50 60 MAERGRLGLP GAPGALNTPV PMNLFATWEV DGSSPSCVPR LCSLTLKKLV VFKELEKELI 70 80 90 100 110 120 SVVIAVKMQG SKRILRSHEI VLPPSGQVET DLALTFSLQY PHFLKREGNK LQIMLQRRKR 130 140 150 160 170 180 YKNRTILGYK TLAAGSISMA EVMQHPSEGG QVLSLCSSIK EAPVKAAEIW IASLSSQPID 190 200 210 220 230 240 HEDSTMQAGP KAKSTDNYSE EEYESFSSEQ EASDDAVQGQ DLDEDDFDVG KPKKQRRSIV 250 260 270 280 290 300 RTTSMTRQQN FKQKVVALLR RFKVSDEVLD SEQDPAEHIP EAEEDLDLLY DTLDMEHPSD 310 320 330 340 350 360 SGPDMEDDDS VLSTPKPKLR PYFEGLSHSS SQTEIGSIHS ARSHKEPPSP ADVPEKTRSL 370 380 390 400 410 420 GGRQPSDSVS DTVALGVPGP REHPGQPEDS PEAEASTLDV FTERLPPSGR ITKTESLVIP 430 440 450 460 470 480 STRSEGKQAG RRGRSTSLKE RQAARPQNER ANSLDNERCP DARSQLQVQL QIPRKTVYDQ 490 500 510 520 530 540 LNHILISDDQ LPENIILVNT SDWQGQFLSD VLQRHTLPVV CTCSPADVQA AFSTIVSRIQ 550 560 570 580 590 600 RYCNCNSQPP TPVKIAVAGA QHYLSAILRL FVEQLSHKTP DWLGYMRFLV IPLGSHPVAR 610 620 630 640 650 660 YLGSVDYRYN NFFQDLAWRD LFNKLEAQSA VQDTPDIVSR ITQYIAGANC AHQLPIAEAM 670 680 690 700 710 720 LTYKQKRKKH FHFDFTLSPD EESSQKFIPF VGVVKVGIVE PSSATSGDSD DAAPSGSGTL 730 740 750 760 770 780 SSTPPSASPA AKEASPTPPS SPSVSGGLSS PSQGVGAELM GLQVDYWTAA QPADRKRDAE 790 800 810 820 830 840 KKDLPVTKNT LKCTFRSLQV SRLPSSGEAA ATPTMSMTVV TKEKNKKVMF LPKKAKDKDV 850 860 870 880 890 900 ESKSQCIEGI SRLICTARQQ QNMLRVLIDG VECSDVKFFQ LAAQWSSHVK HFPICIFGHS KATF « Hide
Isoform 3 [UniParc]. Checksum: 09EC98BEB9B3FC4E Show »	FASTA	890	97,503
10 20 30 40 50 60 TGTGTTAGTR GLEPRPPHCE RAGLPCGAPA SEGRPAGAGL RRNPSGAYRL CSLTLKKLVV 70 80 90 100 110 120 FKELEKELIS VVIAVKMQGS KRILRSHEIV LPPSGQVETD LALTFSLQYP HFLKREGNKL 130 140 150 160 170 180 QIMLQRRKRY KNRTILGYKT LAAGSISMAE VMQHPSEGGQ VLSLCSSIKE APVKAAEIWI 190 200 210 220 230 240 ASLSSQPIDH EDSTMQAGPK AKSTDNYSEE EYESFSSEQE ASDDAVQGQD LDEDDFDVGK 250 260 270 280 290 300 PKKQRRSIQQ NFKQKVVALL RRFKVSDEVL DSEQDPAEHI PEAEEDLDLL YDTLDMEHPS 310 320 330 340 350 360 DSGPDMEDDD SVLSTPKPKL RPYFEGLSHS SSQTEIGSIH SARSHKEPPS PADVPEKTRS 370 380 390 400 410 420 LGGRQPSDSV SDTVALGVPG PREHPGQPED SPEAEASTLD VFTERLPPSG RITKTESLVI 430 440 450 460 470 480 PSTRSEGKQA GRRGRSTSLK ERQAARPQNE RANSLDNERC PDARSQLQIP RKTVYDQLNH 490 500 510 520 530 540 ILISDDQLPE NIILVNTSDW QGQFLSDVLQ RHTLPVVCTC SPADVQAAFS TIVSRIQRYC 550 560 570 580 590 600 NCNSQPPTPV KIAVAGAQHY LSAILRLFVE QLSHKTPDWL GYMRFLVIPL GSHPVARYLG 610 620 630 640 650 660 SVDYRYNNFF QDLAWRDLFN KLEAQSAVQD TPDIVSRITQ YIAGANCAHQ LPIAEAMLTY 670 680 690 700 710 720 KQKSPDEESS QKFIPFVGVV KVGIVEPSSA TSGDSDDAAP SGSGTLSSTP PSASPAAKEA 730 740 750 760 770 780 SPTPPSSPSV SGGLSSPSQG VGAELMGLQV DYWTAAQPAD RKRDAEKKDL PVTKNTLKCT 790 800 810 820 830 840 FRSLQVSRLP SSGEAAATPT MSMTVVTKEK NKKVMFLPKK AKDKDVESKS QCIEGISRLI 850 860 870 880 890 CTARQQQNML RVLIDGVECS DVKFFQLAAQ WSSHVKHFPI CIFGHSKATF « Hide

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: 15692567] [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: 9628581] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Brain.
[4]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3). Tissue: Eye and Hippocampus.
[5]	"Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation." Koettgen M., Benzing T., Simmen T., Tauber R., Buchholz B., Feliciangeli S., Huber T.B., Schermer B., Kramer-Zucker A., Hoepker K., Simmen K.C., Tschucke C.C., Sandford R., Kim E., Thomas G., Walz G. EMBO J. 24:705-716(2005) [PubMed: 15692563] [Abstract] Cited for: FUNCTION, INTERACTION WITH PKD2.
[6]	"Large-scale characterization of HeLa cell nuclear phosphoproteins." Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J., Li J., Cohn M.A., Cantley L.C., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004) [PubMed: 15302935] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-349, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[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: 18296443] [Abstract] Cited for: INTERACTION WITH HIV-1 NEF.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY320284 mRNA. Translation: AAQ83882.2. AB011174 mRNA. Translation: BAA25528.1. Different initiation. BC010663 mRNA. Translation: AAH10663.1. BC050351 mRNA. Translation: AAH50351.2. BC065220 mRNA. Translation: AAH65220.2. BC131591 mRNA. Translation: AAI31592.1.
IPI	IPI00029041. IPI00789787. IPI00879553.
PIR	T00262.
RefSeq	NP_001094383.2. NM_001100913.2. NP_001230056.1. NM_001243127.1. NP_056012.2. NM_015197.3.
UniGene	Hs.525626.
3D structure databases
ProteinModelPortal	Q86VP3.
ModBase	Search...
Protein-protein interaction databases
MINT	MINT-2796645.
STRING	Q86VP3.
PTM databases
PhosphoSite	Q86VP3.
Polymorphism databases
DMDM	117949768.
Proteomic databases
PRIDE	Q86VP3.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000325438; ENSP00000321834; ENSG00000179364.
GeneID	23241.
KEGG	hsa:23241.
UCSC	uc001yqs.2. human. uc001yqt.2. human. uc001yqu.2. human.
Organism-specific databases
CTD	23241.
GeneCards	GC14P105767.
HGNC	HGNC:23794. PACS2.
HPA	HPA001423.
MIM	610423. gene.
neXtProt	NX_Q86VP3.
PharmGKB	PA134941470.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG11236.
GeneTree	ENSGT00390000003281.
HOVERGEN	HBG053488.
InParanoid	Q86VP3.
OMA	QAARPQN.
Gene expression databases
ArrayExpress	Q86VP3.
Bgee	Q86VP3.
CleanEx	HS_PACS2.
Genevestigator	Q86VP3.
GermOnline	ENSG00000179364. Homo sapiens.
Family and domain databases
InterPro	IPR019381. Phosphofurin_acidic_CS-1. [Graphical view]
Pfam	PF10254. Pacs-1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	44902.
SOURCE	Search...

Entry information

Entry name

PACS2_HUMAN

Accession

Primary (citable) accession number: Q86VP3
Secondary accession number(s): A2VDJ9

Q96FL7

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 31, 2006
Last sequence update:	October 31, 2006
Last modified:	January 25, 2012
This is version 64 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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

Human chromosome 14

Human chromosome 14: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

SIMILARITY comments

Index of protein domains and families

Preferred order of sections

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Alternative products

Sequence annotation (Features)

Molecule processing

Amino acid modifications

Natural variations

Experimental info

Sequences

References

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Gene expression databases

Family and domain databases

Other

Entry information

Relevant documents