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Q6VY07

- PACS1_HUMAN

UniProt

Q6VY07 - PACS1_HUMAN

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
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    • History
      Entry version 103 (01 Oct 2014)
      Sequence version 2 (13 Sep 2004)
      Previous versions | rss
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    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
    2. protein binding Source: UniProtKB

    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

    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

    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

    ArrayExpressiQ6VY07.
    BgeeiQ6VY07.
    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. 6 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.
    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

    MAERGGAGGG PGGAGGGSGQ RGSGVAQSPQ QPPPQQQQQQ PPQQPTPPKL    50
    AQATSSSSST SAAAASSSSS STSTSMAVAV ASGSAPPGGP GPGRTPAPVQ 100
    MNLYATWEVD RSSSSCVPRL FSLTLKKLVM LKEMDKDLNS VVIAVKLQGS 150
    KRILRSNEIV LPASGLVETE LQLTFSLQYP HFLKRDANKL QIMLQRRKRY 200
    KNRTILGYKT LAVGLINMAE VMQHPNEGAL VLGLHSNVKD VSVPVAEIKI 250
    YSLSSQPIDH EGIKSKLSDR SPDIDNYSEE EEESFSSEQE GSDDPLHGQD 300
    LFYEDEDLRK VKKTRRKLTS TSAITRQPNI KQKFVALLKR FKVSDEVGFG 350
    LEHVSREQIR EVEEDLDELY DSLEMYNPSD SGPEMEETES ILSTPKPKLK 400
    PFFEGMSQSS SQTEIGSLNS KGSLGKDTTS PMELAALEKI KSTWIKNQDD 450
    SLTETDTLEI TDQDMFGDAS TSLVVPEKVK TPMKSSKTDL QGSASPSKVE 500
    GVHTPRQKRS TPLKERQLSK PLSERTNSSD SERSPDLGHS TQIPRKVVYD 550
    QLNQILVSDA ALPENVILVN TTDWQGQYVA ELLQDQRKPV VCTCSTVEVQ 600
    AVLSALLTRI QRYCNCNSSM PRPVKVAAVG GQSYLSSILR FFVKSLANKT 650
    SDWLGYMRFL IIPLGSHPVA KYLGSVDSKY SSSFLDSGWR DLFSRSEPPV 700
    SEQLDVAGRV MQYVNGAATT HQLPVAEAML TCRHKFPDED SYQKFIPFIG 750
    VVKVGLVEDS PSTAGDGDDS PVVSLTVPST SPPSSSGLSR DATATPPSSP 800
    SMSSALAIVG SPNSPYGDVI GLQVDYWLGH PGERRREGDK RDASSKNTLK 850
    SVFRSVQVSR LPHSGEAQLS GTMAMTVVTK EKNKKVPTIF LSKKPREKEV 900
    DSKSQVIEGI SRLICSAKQQ QTMLRVSIDG VEWSDIKFFQ LAAQWPTHVK 950
    HFPVGLFSGS KAT 963
    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. 6 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.
    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

    ArrayExpressi Q6VY07.
    Bgeei Q6VY07.
    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

    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 1, 2014
    This is version 103 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