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Q6VY07

- PACS1_HUMAN

UniProt

Q6VY07 - PACS1_HUMAN

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Protein

Phosphofurin acidic cluster sorting protein 1

Gene

PACS1

Organism
Homo sapiens (Human)
Status
Reviewed - 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.1 Publication

GO - Molecular functioni

  1. ion channel binding Source: BHF-UCL

GO - Biological processi

  1. protein targeting to Golgi Source: Ensembl
  2. protein targeting to plasma membrane Source: BHF-UCL
  3. regulation of defense response to virus by virus Source: Reactome
  4. viral process Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Host-virus interaction

Enzyme and pathway databases

ReactomeiREACT_11103. Nef mediated downregulation of MHC class I complex cell surface expression.

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
ProteomesiUP000005640: 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.By similarity

GO - Cellular componenti

  1. COPI-coated vesicle Source: Ensembl
  2. cytosol Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Golgi apparatus

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal dominant 17 (MRD17) [MIM:615009]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD17 patients have intellectual disability in combination with distinct craniofacial features and genital abnormalities.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti203 – 2031R → W in MRD17. 1 Publication
VAR_069534

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

MIMi615009. phenotype.
Orphaneti329224. Intellectual disability - craniofacial dysmorphism - cryptorchidism.
PharmGKBiPA134989529.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 963962Phosphofurin acidic cluster sorting protein 1PRO_0000058171Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine1 Publication
Modified residuei379 – 3791Phosphoserine1 Publication
Modified residuei430 – 4301Phosphoserine1 Publication
Modified residuei504 – 5041Phosphothreonine1 Publication
Modified residuei529 – 5291Phosphoserine1 Publication
Modified residuei531 – 5311Phosphoserine1 Publication
Modified residuei534 – 5341Phosphoserine1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiQ6VY07.
PaxDbiQ6VY07.
PRIDEiQ6VY07.

PTM databases

PhosphoSiteiQ6VY07.

Expressioni

Gene expression databases

BgeeiQ6VY07.
ExpressionAtlasiQ6VY07. baseline and differential.
GenevestigatoriQ6VY07.

Organism-specific databases

HPAiHPA038914.

Interactioni

Subunit structurei

Interacts with HIV-1 Nef. Associates with AP-1 and AP-3 but not with AP-2 complexes. Interacts with NPHP1; the interaction is dependent of NPHP1 phosphorylation by CK2.4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
CSNK2BP678703EBI-2555014,EBI-348169
GGA3Q9NZ525EBI-2555014,EBI-447404
IGF2RP117172EBI-2555014,EBI-1048580

Protein-protein interaction databases

BioGridi120816. 7 interactions.
IntActiQ6VY07. 8 interactions.
MINTiMINT-3372090.

Structurei

3D structure databases

ProteinModelPortaliQ6VY07.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni168 – 1758Involved in binding to AP-1

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili353 – 37725Sequence AnalysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi5 – 4440Gly-richAdd
BLAST
Compositional biasi35 – 406Poly-Gln
Compositional biasi55 – 8430Ser-richAdd
BLAST
Compositional biasi62 – 654Poly-Ala
Compositional biasi112 – 1154Poly-Ser
Compositional biasi279 – 2835Poly-Glu

Sequence similaritiesi

Belongs to the PACS family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG279176.
GeneTreeiENSGT00390000003281.
HOVERGENiHBG053488.
InParanoidiQ6VY07.
OMAiTPAPVQM.
OrthoDBiEOG7VHSX0.
PhylomeDBiQ6VY07.
TreeFamiTF314240.

Family and domain databases

InterProiIPR019381. Phosphofurin_acidic_CS-1.
[Graphical view]
PfamiPF10254. Pacs-1. 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: 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 AAH09936.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
The sequence BAB71164.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti171 – 22050Missing in BAC04831. (PubMed:14702039)CuratedAdd
BLAST
Sequence conflicti649 – 6491K → M in BAA91491. (PubMed:14702039)Curated
Sequence conflicti771 – 7711P → S in BAC04831. (PubMed:14702039)Curated
Sequence conflicti803 – 8031S → N in AAQ67682. 1 PublicationCurated
Sequence conflicti882 – 8821K → L in AAQ67682. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti203 – 2031R → W in MRD17. 1 Publication
VAR_069534
Natural varianti302 – 3021F → L.
Corresponds to variant rs12798852 [ dbSNP | Ensembl ].
VAR_053797

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei917 – 96347AKQQQ…GSKAT → SPSLGPSLGPDPSSQPGFPP AGSFPPCHLPLTNPGSEPLI PDRPCSQEWLRTQGPSPALC TPQPGHLRPTAPLELFSCPL TPSQKFLHRTSF in isoform 2. 1 PublicationVSP_011557Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.2. human. [Q6VY07-1]

Polymorphism databases

DMDMi52000804.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS8129.1. [Q6VY07-1 ]
RefSeqi NP_060496.2. NM_018026.3. [Q6VY07-1 ]
UniGenei Hs.644326.

3D structure databases

ProteinModelPortali Q6VY07.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120816. 7 interactions.
IntActi Q6VY07. 8 interactions.
MINTi MINT-3372090.

PTM databases

PhosphoSitei Q6VY07.

Polymorphism databases

DMDMi 52000804.

Proteomic databases

MaxQBi Q6VY07.
PaxDbi Q6VY07.
PRIDEi Q6VY07.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000320580 ; ENSP00000316454 ; ENSG00000175115 . [Q6VY07-1 ]
GeneIDi 55690.
KEGGi hsa:55690.
UCSCi uc001oha.2. human. [Q6VY07-1 ]

Organism-specific databases

CTDi 55690.
GeneCardsi GC11P065837.
HGNCi HGNC:30032. PACS1.
HPAi HPA038914.
MIMi 607492. gene.
615009. phenotype.
neXtProti NX_Q6VY07.
Orphaneti 329224. Intellectual disability - craniofacial dysmorphism - cryptorchidism.
PharmGKBi PA134989529.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG279176.
GeneTreei ENSGT00390000003281.
HOVERGENi HBG053488.
InParanoidi Q6VY07.
OMAi TPAPVQM.
OrthoDBi EOG7VHSX0.
PhylomeDBi Q6VY07.
TreeFami TF314240.

Enzyme and pathway databases

Reactomei REACT_11103. Nef mediated downregulation of MHC class I complex cell surface expression.

Miscellaneous databases

ChiTaRSi PACS1. human.
GeneWikii PACS1.
GenomeRNAii 55690.
NextBioi 60497.
PROi Q6VY07.
SOURCEi Search...

Gene expression databases

Bgeei Q6VY07.
ExpressionAtlasi Q6VY07. baseline and differential.
Genevestigatori Q6VY07.

Family and domain databases

InterProi IPR019381. Phosphofurin_acidic_CS-1.
[Graphical view ]
Pfami PF10254. Pacs-1. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Human PACS-1, a endosome-TGN sorting connector."
    Wan L., Xiang Y., Simmen T., Thomas G.
    Submitted (JUN-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "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).
    Tissue: Embryo and Fetal brain.
  3. "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, Kidney and Uterus.
  4. "Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain."
    Hirosawa M., Nagase T., Ishikawa K., Kikuno R., Nomura N., Ohara O.
    DNA Res. 6:329-336(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 323-963 (ISOFORM 1).
    Tissue: Brain.
  5. "PACS-1 binding to adaptors is required for acidic cluster motif-mediated protein traffic."
    Crump C.M., Xiang Y., Thomas L., Gu F., Austin C., Tooze S.A., Thomas G.
    EMBO J. 20:2191-2201(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.
  6. "HIV-1 Nef protein binds to the cellular protein PACS-1 to downregulate class I major histocompatibility complexes."
    Piguet V., Wan L., Borel C., Mangasarian A., Demaurex N., Thomas G., Trono D.
    Nat. Cell Biol. 2:163-167(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH HIV-1 NEF.
  7. "HIV-1 Nef downregulates MHC-I by a PACS-1- and PI3K-regulated ARF6 endocytic pathway."
    Blagoveshchenskaya A.D., Thomas L., Feliciangeli S.F., Hung C.-H., Thomas G.
    Cell 111:853-866(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH HIV-1 NEF.
  8. Cited for: INTERACTION WITH NPHP1.
  9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Embryonic kidney.
  10. "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.
  11. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
    Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
    Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  12. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-379; SER-430; THR-504; SER-529 AND SER-534, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  13. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [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].
  14. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  15. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  16. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-531, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  17. "Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome."
    Schuurs-Hoeijmakers J.H., Oh E.C., Vissers L.E., Swinkels M.E., Gilissen C., Willemsen M.A., Holvoet M., Steehouwer M., Veltman J.A., de Vries B.B., van Bokhoven H., de Brouwer A.P., Katsanis N., Devriendt K., Brunner H.G.
    Am. J. Hum. Genet. 91:1122-1127(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MRD17 TRP-203.

Entry informationi

Entry nameiPACS1_HUMAN
AccessioniPrimary (citable) accession number: Q6VY07
Secondary accession number(s): Q6PJY6
, Q6PKB6, Q7Z590, Q7Z5W4, Q8N8K6, Q96MW0, Q9NW92, Q9ULP5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 13, 2004
Last sequence update: September 13, 2004
Last modified: October 29, 2014
This is version 104 of the entry and version 2 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 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

External Data

Dasty 3