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Q13428

- TCOF_HUMAN

UniProt

Q13428 - TCOF_HUMAN

Protein

Treacle protein

Gene

TCOF1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 135 (01 Oct 2014)
      Sequence version 3 (10 Aug 2010)
      Previous versions | rss
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    Functioni

    May be involved in nucleolar-cytoplasmic transport. May play a fundamental role in early embryonic development, particularly in development of the craniofacial complex By similarity. May participate in certain stages of ribosome biogenesis.By similarity1 Publication

    GO - Molecular functioni

    1. poly(A) RNA binding Source: UniProtKB
    2. protein binding Source: IntAct
    3. transporter activity Source: ProtInc

    GO - Biological processi

    1. skeletal system development Source: ProtInc
    2. transcription of nuclear large rRNA transcript from RNA polymerase I promoter Source: Ensembl

    Keywords - Biological processi

    Transport

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Treacle protein
    Alternative name(s):
    Treacher Collins syndrome protein
    Gene namesi
    Name:TCOF1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:11654. TCOF1.

    Subcellular locationi

    Nucleusnucleolus 1 Publication

    GO - Cellular componenti

    1. cytoplasm Source: HPA
    2. nucleolus Source: HPA
    3. nucleus Source: HPA

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Treacher Collins syndrome 1 (TCS1) [MIM:154500]: A form of Treacher Collins syndrome, a disorder of craniofacial development. Treacher Collins syndrome is characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti53 – 531W → R in TCS1. 1 Publication
    VAR_005630

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi154500. phenotype.
    Orphaneti861. Treacher-Collins syndrome.
    PharmGKBiPA36405.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 14881488Treacle proteinPRO_0000072459Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei83 – 831Phosphoserine1 Publication
    Modified residuei84 – 841Phosphothreonine1 Publication
    Modified residuei85 – 851Phosphoserine1 Publication
    Modified residuei87 – 871Phosphoserine1 Publication
    Modified residuei88 – 881Phosphoserine1 Publication
    Modified residuei134 – 1341N6-acetyllysineBy similarity
    Modified residuei153 – 1531Phosphoserine1 Publication
    Modified residuei155 – 1551N6-acetyllysine1 Publication
    Modified residuei156 – 1561Phosphoserine4 Publications
    Modified residuei171 – 1711PhosphoserineBy similarity
    Modified residuei173 – 1731PhosphothreonineBy similarity
    Modified residuei233 – 2331Phosphoserine2 Publications
    Modified residuei249 – 2491Phosphothreonine3 Publications
    Modified residuei296 – 2961N6-acetyllysine1 Publication
    Modified residuei310 – 3101Phosphothreonine2 Publications
    Modified residuei313 – 3131N6-acetyllysineBy similarity
    Modified residuei316 – 3161Phosphothreonine1 Publication
    Modified residuei322 – 3221N6-acetyllysineBy similarity
    Modified residuei381 – 3811Phosphoserine6 Publications
    Modified residuei446 – 4461Phosphoserine4 Publications
    Modified residuei503 – 5031Phosphoserine3 Publications
    Modified residuei581 – 5811Phosphothreonine1 Publication
    Modified residuei583 – 5831Phosphoserine4 Publications
    Modified residuei600 – 6001N6-acetyllysine1 Publication
    Modified residuei620 – 6201Phosphoserine1 Publication
    Modified residuei679 – 6791PhosphoserineBy similarity
    Modified residuei716 – 7161N6-acetyllysineBy similarity
    Modified residuei720 – 7201N6-acetyllysineBy similarity
    Modified residuei755 – 7551N6-acetyllysine1 Publication
    Modified residuei762 – 7621Phosphoserine1 Publication
    Modified residuei764 – 7641Phosphoserine1 Publication
    Modified residuei765 – 7651Phosphoserine1 Publication
    Modified residuei769 – 7691Phosphoserine1 Publication
    Modified residuei771 – 7711Phosphoserine1 Publication
    Modified residuei777 – 7771Phosphoserine1 Publication
    Modified residuei868 – 8681Phosphoserine2 Publications
    Modified residuei870 – 8701Phosphoserine2 Publications
    Modified residuei871 – 8711Phosphoserine2 Publications
    Modified residuei875 – 8751Phosphoserine2 Publications
    Modified residuei877 – 8771Phosphoserine2 Publications
    Modified residuei906 – 9061Phosphoserine6 Publications
    Modified residuei914 – 9141Phosphothreonine2 Publications
    Modified residuei967 – 9671Phosphoserine2 Publications
    Modified residuei983 – 9831Phosphothreonine1 Publication
    Modified residuei998 – 9981Phosphoserine1 Publication
    Modified residuei1111 – 11111Phosphoserine3 Publications
    Modified residuei1190 – 11901Phosphoserine1 Publication
    Modified residuei1228 – 12281Phosphoserine4 Publications
    Modified residuei1234 – 12341Phosphothreonine1 Publication
    Modified residuei1257 – 12571Phosphoserine4 Publications
    Modified residuei1350 – 13501Phosphoserine4 Publications
    Modified residuei1376 – 13761Phosphoserine3 Publications
    Modified residuei1378 – 13781Phosphoserine5 Publications
    Modified residuei1407 – 14071Phosphoserine1 Publication
    Modified residuei1410 – 14101Phosphoserine2 Publications
    Modified residuei1414 – 14141N6-acetyllysine1 Publication

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    MaxQBiQ13428.
    PaxDbiQ13428.
    PRIDEiQ13428.

    PTM databases

    PhosphoSiteiQ13428.

    Miscellaneous databases

    PMAP-CutDBQ13428.

    Expressioni

    Gene expression databases

    ArrayExpressiQ13428.
    BgeeiQ13428.
    CleanExiHS_TCOF1.
    GenevestigatoriQ13428.

    Organism-specific databases

    HPAiCAB033199.
    HPA038237.
    HPA038238.

    Interactioni

    Subunit structurei

    Part of a large pre-ribosomal ribonucleoprotein (RNP) complex, that consists of at least 62 ribosomal proteins, 45 nonribosomal proteins and both pre-rRNA and mature rRNA species. Within this complex directly interacts with NOP56 in an RNA-independent manner.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ARRB1P494073EBI-396105,EBI-743313
    ARRB2P321213EBI-396105,EBI-714559

    Protein-protein interaction databases

    BioGridi112809. 42 interactions.
    IntActiQ13428. 16 interactions.
    MINTiMINT-4995561.
    STRINGi9606.ENSP00000406888.

    Structurei

    3D structure databases

    ProteinModelPortaliQ13428.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini6 – 3833LisHPROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi89 – 979Poly-Glu
    Compositional biasi204 – 2074Poly-Ser
    Compositional biasi693 – 6964Poly-Ser
    Compositional biasi996 – 10016Poly-Ser
    Compositional biasi1362 – 13665Poly-Lys
    Compositional biasi1452 – 146312Poly-LysAdd
    BLAST
    Compositional biasi1475 – 14828Poly-Lys

    Sequence similaritiesi

    Contains 1 LisH domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG12793.
    HOVERGENiHBG006664.
    InParanoidiQ13428.
    KOiK14562.
    OrthoDBiEOG7M0NQT.
    PhylomeDBiQ13428.
    TreeFamiTF341730.

    Family and domain databases

    InterProiIPR006594. LisH_dimerisation.
    IPR003993. TCS_treacle.
    IPR017859. Treacle-like_TCS.
    [Graphical view]
    PfamiPF03546. Treacle. 6 hits.
    [Graphical view]
    PRINTSiPR01503. TREACLE.
    SMARTiSM00667. LisH. 1 hit.
    [Graphical view]
    PROSITEiPS50896. LISH. 1 hit.
    [Graphical view]

    Sequences (8)i

    Sequence statusi: Complete.

    This entry describes 8 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q13428-1) [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

    MAEARKRREL LPLIYHHLLR AGYVRAAREV KEQSGQKCFL AQPVTLLDIY     50
    THWQQTSELG RKRKAEEDAA LQAKKTRVSD PISTSESSEE EEEAEAETAK 100
    ATPRLASTNS SVLGADLPSS MKEKAKAETE KAGKTGNSMP HPATGKTVAN 150
    LLSGKSPRKS AEPSANTTLV SETEEEGSVP AFGAAAKPGM VSAGQADSSS 200
    EDTSSSSDET DVEGKPSVKP AQVKASSVST KESPARKAAP APGKVGDVTP 250
    QVKGGALPPA KRAKKPEEES ESSEEGSESE EEAPAGTRSQ VKASEKILQV 300
    RAASAPAKGT PGKGATPAPP GKAGAVASQT KAGKPEEDSE SSSEESSDSE 350
    EETPAAKALL QAKASGKTSQ VGAASAPAKE SPRKGAAPAP PGKTGPAVAK 400
    AQAGKREEDS QSSSEESDSE EEAPAQAKPS GKAPQVRAAS APAKESPRKG 450
    AAPAPPRKTG PAAAQVQVGK QEEDSRSSSE ESDSDREALA AMNAAQVKPL 500
    GKSPQVKPAS TMGMGPLGKG AGPVPPGKVG PATPSAQVGK WEEDSESSSE 550
    ESSDSSDGEV PTAVAPAQEK SLGNILQAKP TSSPAKGPPQ KAGPVAVQVK 600
    AEKPMDNSES SEESSDSADS EEAPAAMTAA QAKPALKIPQ TKACPKKTNT 650
    TASAKVAPVR VGTQAPRKAG TATSPAGSSP AVAGGTQRPA EDSSSSEESD 700
    SEEEKTGLAV TVGQAKSVGK GLQVKAASVP VKGSLGQGTA PVLPGKTGPT 750
    VTQVKAEKQE DSESSEEESD SEEAAASPAQ VKTSVKKTQA KANPAAARAP 800
    SAKGTISAPG KVVTAAAQAK QRSPSKVKPP VRNPQNSTVL ARGPASVPSV 850
    GKAVATAAQA QTGPEEDSGS SEEESDSEEE AETLAQVKPS GKTHQIRAAL 900
    APAKESPRKG AAPTPPGKTG PSAAQAGKQD DSGSSSEESD SDGEAPAAVT 950
    SAQVIKPPLI FVDPNRSPAG PAATPAQAQA ASTPRKARAS ESTARSSSSE 1000
    SEDEDVIPAT QCLTPGIRTN VVTMPTAHPR IAPKASMAGA SSSKESSRIS 1050
    DGKKQEGPAT QVSKKNPASL PLTQAALKVL AQKASEAQPP VARTQPSSGV 1100
    DSAVGTLPAT SPQSTSVQAK GTNKLRKPKL PEVQQATKAP ESSDDSEDSS 1150
    DSSSGSEEDG EGPQGAKSAH TLGPTPSRTE TLVEETAAES SEDDVVAPSQ 1200
    SLLSGYMTPG LTPANSQASK ATPKLDSSPS VSSTLAAKDD PDGKQEAKPQ 1250
    QAAGMLSPKT GGKEAASGTT PQKSRKPKKG AGNPQASTLA LQSNITQCLL 1300
    GQPWPLNEAQ VQASVVKVLT ELLEQERKKV VDTTKESSRK GWESRKRKLS 1350
    GDQPAARTPR SKKKKKLGAG EGGEASVSPE KTSTTSKGKA KRDKASGDVK 1400
    EKKGKGSLGS QGAKDEPEEE LQKGMGTVEG GDQSNPKSKK EKKKSDKRKK 1450
    DKEKKEKKKK AKKASTKDSE SPSQKKKKKK KKTAEQTV 1488

    Note: Major.

    Length:1,488
    Mass (Da):152,106
    Last modified:August 10, 2010 - v3
    Checksum:i6348306D0479790B
    GO
    Isoform 2 (identifier: Q13428-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         214-290: Missing.

    Show »
    Length:1,411
    Mass (Da):144,314
    Checksum:i54E198A54B9062B2
    GO
    Isoform 3 (identifier: Q13428-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1172-1172: L → LV

    Show »
    Length:1,489
    Mass (Da):152,205
    Checksum:iE24970345707B2CC
    GO
    Isoform 4 (identifier: Q13428-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         953-953: Q → QDSNSKPARSKTLAPAPPERNTEGSSESSEEELPLTQ

    Note: Minor.

    Show »
    Length:1,524
    Mass (Da):155,929
    Checksum:iB9CB0B8858C31E3F
    GO
    Isoform 5 (identifier: Q13428-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         954-958: VIKPP → DQESS
         959-1488: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:958
    Mass (Da):96,757
    Checksum:i1F041264A162451C
    GO
    Isoform 6 (identifier: Q13428-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1062-1099: Missing.

    Show »
    Length:1,450
    Mass (Da):148,254
    Checksum:i99FE142AD43AD2A5
    GO
    Isoform 7 (identifier: Q13428-7) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1062-1099: Missing.
         1172-1172: L → LV

    Show »
    Length:1,451
    Mass (Da):148,353
    Checksum:i0493C61010D7F167
    GO
    Isoform 8 (identifier: Q13428-8) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         214-290: Missing.
         1172-1172: L → LV

    Note: No experimental confirmation available.

    Show »
    Length:1,412
    Mass (Da):144,414
    Checksum:i1B4ED99C9F485BD7
    GO

    Sequence cautioni

    The sequence AAH16144.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti1271 – 12711P → L in BAG64623. (PubMed:14702039)Curated
    Sequence conflicti1389 – 13891K → Q in AAB40722. (PubMed:9074926)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti53 – 531W → R in TCS1. 1 Publication
    VAR_005630
    Natural varianti221 – 2211A → P.
    Corresponds to variant rs11541811 [ dbSNP | Ensembl ].
    VAR_057002
    Natural varianti516 – 5161P → L.1 Publication
    VAR_005631
    Natural varianti665 – 6651A → P.4 Publications
    Corresponds to variant rs2071240 [ dbSNP | Ensembl ].
    VAR_029869
    Natural varianti887 – 8871V → A.6 Publications
    Corresponds to variant rs7713638 [ dbSNP | Ensembl ].
    VAR_005632
    Natural varianti1030 – 10301R → K in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_035666
    Natural varianti1176 – 11761P → R.
    Corresponds to variant rs1136103 [ dbSNP | Ensembl ].
    VAR_059729
    Natural varianti1280 – 12801G → R.
    Corresponds to variant rs11541812 [ dbSNP | Ensembl ].
    VAR_059730
    Natural varianti1390 – 13901A → V.1 Publication
    Corresponds to variant rs15251 [ dbSNP | Ensembl ].
    VAR_005633
    Natural varianti1431 – 14311G → A.
    Corresponds to variant rs45491898 [ dbSNP | Ensembl ].
    VAR_061709
    Natural varianti1432 – 14321D → G.1 Publication
    VAR_005634

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei214 – 29077Missing in isoform 2 and isoform 8. 2 PublicationsVSP_022295Add
    BLAST
    Alternative sequencei953 – 9531Q → QDSNSKPARSKTLAPAPPER NTEGSSESSEEELPLTQ in isoform 4. CuratedVSP_022296
    Alternative sequencei954 – 9585VIKPP → DQESS in isoform 5. 1 PublicationVSP_023133
    Alternative sequencei959 – 1488530Missing in isoform 5. 1 PublicationVSP_023134Add
    BLAST
    Alternative sequencei1062 – 109938Missing in isoform 6 and isoform 7. 2 PublicationsVSP_040382Add
    BLAST
    Alternative sequencei1172 – 11721L → LV in isoform 3, isoform 7 and isoform 8. 2 PublicationsVSP_022297

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U40847 mRNA. Translation: AAC50903.1.
    U76366 mRNA. Translation: AAC51181.1.
    U84664
    , U84640, U84641, U84642, U84643, U84644, U84645, U84646, U84647, U84648, U84649, U84650, U84651, U84652, U84653, U84654, U84655, U84656, U84657, U84658, U84659, U84660, U84661, U84662, U84663 Genomic DNA. Translation: AAC51185.1.
    U79659
    , U79645, U79646, U79647, U79648, U79649, U79650, U79651, U79652, U79653, U79654, U79655, U79656, U79657, U79658 Genomic DNA. Translation: AAB40722.1.
    AY460334 mRNA. Translation: AAR87774.1.
    AC011372 Genomic DNA. No translation available.
    BC011764 mRNA. Translation: AAH11764.1.
    BC014559 mRNA. Translation: AAH14559.1.
    BC016144 mRNA. Translation: AAH16144.1. Sequence problems.
    BC027252 mRNA. Translation: AAH27252.1.
    BC033093 mRNA. Translation: AAH33093.1.
    AK303611 mRNA. Translation: BAG64623.1.
    CCDSiCCDS4306.1. [Q13428-2]
    CCDS47305.1. [Q13428-7]
    CCDS47306.1. [Q13428-8]
    CCDS47307.1. [Q13428-5]
    CCDS54936.1. [Q13428-1]
    RefSeqiNP_000347.2. NM_000356.3. [Q13428-2]
    NP_001008657.1. NM_001008657.2. [Q13428-5]
    NP_001128715.1. NM_001135243.1. [Q13428-1]
    NP_001128716.1. NM_001135244.1. [Q13428-7]
    NP_001128717.1. NM_001135245.1. [Q13428-8]
    NP_001182070.1. NM_001195141.1. [Q13428-6]
    XP_005268562.1. XM_005268505.1. [Q13428-3]
    UniGeneiHs.519672.
    Hs.605019.

    Genome annotation databases

    EnsembliENST00000323668; ENSP00000325223; ENSG00000070814. [Q13428-2]
    ENST00000377797; ENSP00000367028; ENSG00000070814. [Q13428-3]
    ENST00000394269; ENSP00000377811; ENSG00000070814. [Q13428-5]
    ENST00000439160; ENSP00000406888; ENSG00000070814. [Q13428-7]
    ENST00000445265; ENSP00000409944; ENSG00000070814. [Q13428-8]
    ENST00000504761; ENSP00000421655; ENSG00000070814. [Q13428-1]
    GeneIDi6949.
    KEGGihsa:6949.
    UCSCiuc003lrw.3. human. [Q13428-5]
    uc003lrx.3. human. [Q13428-8]
    uc003lry.3. human. [Q13428-1]
    uc003lrz.3. human. [Q13428-6]
    uc003lsa.3. human. [Q13428-2]
    uc011dch.2. human. [Q13428-7]

    Polymorphism databases

    DMDMi302393806.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U40847 mRNA. Translation: AAC50903.1 .
    U76366 mRNA. Translation: AAC51181.1 .
    U84664
    , U84640 , U84641 , U84642 , U84643 , U84644 , U84645 , U84646 , U84647 , U84648 , U84649 , U84650 , U84651 , U84652 , U84653 , U84654 , U84655 , U84656 , U84657 , U84658 , U84659 , U84660 , U84661 , U84662 , U84663 Genomic DNA. Translation: AAC51185.1 .
    U79659
    , U79645 , U79646 , U79647 , U79648 , U79649 , U79650 , U79651 , U79652 , U79653 , U79654 , U79655 , U79656 , U79657 , U79658 Genomic DNA. Translation: AAB40722.1 .
    AY460334 mRNA. Translation: AAR87774.1 .
    AC011372 Genomic DNA. No translation available.
    BC011764 mRNA. Translation: AAH11764.1 .
    BC014559 mRNA. Translation: AAH14559.1 .
    BC016144 mRNA. Translation: AAH16144.1 . Sequence problems.
    BC027252 mRNA. Translation: AAH27252.1 .
    BC033093 mRNA. Translation: AAH33093.1 .
    AK303611 mRNA. Translation: BAG64623.1 .
    CCDSi CCDS4306.1. [Q13428-2 ]
    CCDS47305.1. [Q13428-7 ]
    CCDS47306.1. [Q13428-8 ]
    CCDS47307.1. [Q13428-5 ]
    CCDS54936.1. [Q13428-1 ]
    RefSeqi NP_000347.2. NM_000356.3. [Q13428-2 ]
    NP_001008657.1. NM_001008657.2. [Q13428-5 ]
    NP_001128715.1. NM_001135243.1. [Q13428-1 ]
    NP_001128716.1. NM_001135244.1. [Q13428-7 ]
    NP_001128717.1. NM_001135245.1. [Q13428-8 ]
    NP_001182070.1. NM_001195141.1. [Q13428-6 ]
    XP_005268562.1. XM_005268505.1. [Q13428-3 ]
    UniGenei Hs.519672.
    Hs.605019.

    3D structure databases

    ProteinModelPortali Q13428.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112809. 42 interactions.
    IntActi Q13428. 16 interactions.
    MINTi MINT-4995561.
    STRINGi 9606.ENSP00000406888.

    PTM databases

    PhosphoSitei Q13428.

    Polymorphism databases

    DMDMi 302393806.

    Proteomic databases

    MaxQBi Q13428.
    PaxDbi Q13428.
    PRIDEi Q13428.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000323668 ; ENSP00000325223 ; ENSG00000070814 . [Q13428-2 ]
    ENST00000377797 ; ENSP00000367028 ; ENSG00000070814 . [Q13428-3 ]
    ENST00000394269 ; ENSP00000377811 ; ENSG00000070814 . [Q13428-5 ]
    ENST00000439160 ; ENSP00000406888 ; ENSG00000070814 . [Q13428-7 ]
    ENST00000445265 ; ENSP00000409944 ; ENSG00000070814 . [Q13428-8 ]
    ENST00000504761 ; ENSP00000421655 ; ENSG00000070814 . [Q13428-1 ]
    GeneIDi 6949.
    KEGGi hsa:6949.
    UCSCi uc003lrw.3. human. [Q13428-5 ]
    uc003lrx.3. human. [Q13428-8 ]
    uc003lry.3. human. [Q13428-1 ]
    uc003lrz.3. human. [Q13428-6 ]
    uc003lsa.3. human. [Q13428-2 ]
    uc011dch.2. human. [Q13428-7 ]

    Organism-specific databases

    CTDi 6949.
    GeneCardsi GC05P149717.
    GeneReviewsi TCOF1.
    H-InvDB HIX0005313.
    HGNCi HGNC:11654. TCOF1.
    HPAi CAB033199.
    HPA038237.
    HPA038238.
    MIMi 154500. phenotype.
    606847. gene.
    neXtProti NX_Q13428.
    Orphaneti 861. Treacher-Collins syndrome.
    PharmGKBi PA36405.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG12793.
    HOVERGENi HBG006664.
    InParanoidi Q13428.
    KOi K14562.
    OrthoDBi EOG7M0NQT.
    PhylomeDBi Q13428.
    TreeFami TF341730.

    Miscellaneous databases

    ChiTaRSi TCOF1. human.
    GeneWikii Treacle_protein.
    GenomeRNAii 6949.
    NextBioi 27207.
    PMAP-CutDB Q13428.
    PROi Q13428.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q13428.
    Bgeei Q13428.
    CleanExi HS_TCOF1.
    Genevestigatori Q13428.

    Family and domain databases

    InterProi IPR006594. LisH_dimerisation.
    IPR003993. TCS_treacle.
    IPR017859. Treacle-like_TCS.
    [Graphical view ]
    Pfami PF03546. Treacle. 6 hits.
    [Graphical view ]
    PRINTSi PR01503. TREACLE.
    SMARTi SM00667. LisH. 1 hit.
    [Graphical view ]
    PROSITEi PS50896. LISH. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome."
      Dixon J., Edwards S.J., Gladwin A.J., Dixon M.J., Loftus S.K., Bonner C.A., Koprivnikar K., Wasmuth J.J.
      Nat. Genet. 12:130-136(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANTS PRO-665 AND ALA-887.
    2. "Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene."
      Dixon J., Edwards S.J., Anderson I., Brass A., Scambler P.J., Dixon M.J.
      Genome Res. 7:223-234(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 2), VARIANTS PRO-665 AND ALA-887.
    3. "TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins syndrome throughout its coding region."
      Wise C.A., Chiang L.C., Paznekas W.A., Sharma M., Musy M.M., Ashley J.A., Lovett M., Jabs E.W.
      Proc. Natl. Acad. Sci. U.S.A. 94:3110-3115(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANTS PRO-665 AND ALA-887.
    4. "Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons."
      So R.B., Gonzales B., Henning D., Dixon J., Dixon M.J., Valdez B.C.
      Gene 328:49-57(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ALTERNATIVE SPLICING (ISOFORM 4), VARIANTS PRO-665 AND ALA-887.
    5. "The DNA sequence and comparative analysis of human chromosome 5."
      Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
      , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
      Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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 5), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-1448 (ISOFORM 6), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 16-1188 (ISOFORM 3).
      Tissue: Eye and Skin.
    7. "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] OF 1-1452 (ISOFORM 7), VARIANT ALA-887.
      Tissue: Thymus.
    8. "Proteomic analysis of human Nop56p-associated pre-ribosomal ribonucleoprotein complexes. Possible link between Nop56p and the nucleolar protein treacle responsible for Treacher Collins syndrome."
      Hayano T., Yanagida M., Yamauchi Y., Shinkawa T., Isobe T., Takahashi N.
      J. Biol. Chem. 278:34309-34319(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 63-74; 101-122; 135-155; 297-308; 368-379; 433-444; 503-519; 571-586; 706-716; 733-755; 792-803; 893-904; 1065-1078; 1130-1138; 1225-1238; 1245-1259; 1318-1329 AND 1424-1437, FUNCTION, SUBCELLULAR LOCATION, IDENTIFICATION IN A PRE-RIBOSOMAL RNP COMPLEX, INTERACTION WITH NOP56, IDENTIFICATION BY MASS SPECTROMETRY.
    9. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
      Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
      Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-381; SER-446; SER-620; SER-906; SER-1257 AND SER-1350, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    10. "A probability-based approach for high-throughput protein phosphorylation analysis and site localization."
      Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P.
      Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-249; SER-1111; SER-1228 AND SER-1378, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    11. "Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra."
      Yu L.R., Zhu Z., Chan K.C., Issaq H.J., Dimitrov D.S., Veenstra T.D.
      J. Proteome Res. 6:4150-4162(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-381; SER-446; SER-906 AND THR-914, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    12. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Embryonic kidney.
    13. "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."
      Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III
      J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-906 AND SER-967, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    14. "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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-906 AND SER-1350, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    15. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-83; THR-84; SER-85; SER-87; SER-88; SER-153; SER-156; THR-310; THR-316; SER-381; SER-503; THR-581; SER-583; SER-762; SER-764; SER-765; SER-769; SER-771; SER-777; SER-868; SER-870; SER-871; SER-875; SER-877; SER-998; SER-1111; SER-1190; SER-1228; THR-1234; SER-1257; SER-1376; SER-1378; SER-1407 AND SER-1410, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    16. "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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    17. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    18. "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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-156; THR-249; SER-381; SER-583; THR-983; SER-1111; SER-1228; SER-1376 AND SER-1378, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    19. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
      Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
      Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-155; LYS-296; LYS-600; LYS-755 AND LYS-1414, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    20. "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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-156; SER-233; THR-249; THR-310; SER-381; SER-446; SER-503; SER-583; SER-868; SER-870; SER-871; SER-875; SER-877; SER-906; THR-914; SER-1257; SER-1350; SER-1378 AND SER-1410, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    21. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    22. "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-156; SER-233; SER-381; SER-446; SER-503; SER-583; SER-906; SER-967; SER-1228; SER-1257; SER-1350; SER-1376 AND SER-1378, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    23. "The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon."
      Edwards S.J., Gladwin A.J., Dixon M.J.
      Am. J. Hum. Genet. 60:515-524(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS LEU-516; ALA-887; VAL-1390 AND GLY-1432, VARIANT TCS1 ARG-53.
    24. Cited for: VARIANT [LARGE SCALE ANALYSIS] LYS-1030.

    Entry informationi

    Entry nameiTCOF_HUMAN
    AccessioniPrimary (citable) accession number: Q13428
    Secondary accession number(s): A0JLU0
    , B4E111, Q6SC72, Q7Z5W9, Q96A52, Q99408, Q99860
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: August 10, 2010
    Last modified: October 1, 2014
    This is version 135 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, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 5
      Human chromosome 5: 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