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Q13428

- TCOF_HUMAN

UniProt

Q13428 - TCOF_HUMAN

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Protein

Treacle protein

Gene
TCOF1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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.1 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
Complete GO annotation...

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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-acetyllysine By similarity
Modified residuei153 – 1531Phosphoserine1 Publication
Modified residuei155 – 1551N6-acetyllysine1 Publication
Modified residuei156 – 1561Phosphoserine4 Publications
Modified residuei171 – 1711Phosphoserine By similarity
Modified residuei173 – 1731Phosphothreonine By similarity
Modified residuei233 – 2331Phosphoserine2 Publications
Modified residuei249 – 2491Phosphothreonine3 Publications
Modified residuei296 – 2961N6-acetyllysine1 Publication
Modified residuei310 – 3101Phosphothreonine2 Publications
Modified residuei313 – 3131N6-acetyllysine By similarity
Modified residuei316 – 3161Phosphothreonine1 Publication
Modified residuei322 – 3221N6-acetyllysine By 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 – 6791Phosphoserine By similarity
Modified residuei716 – 7161N6-acetyllysine By similarity
Modified residuei720 – 7201N6-acetyllysine By 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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini6 – 3833LisHAdd
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.

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.

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. VSP_022295Add
BLAST
Alternative sequencei953 – 9531Q → QDSNSKPARSKTLAPAPPER NTEGSSESSEEELPLTQ in isoform 4. VSP_022296
Alternative sequencei954 – 9585VIKPP → DQESS in isoform 5. VSP_023133
Alternative sequencei959 – 1488530Missing in isoform 5. VSP_023134Add
BLAST
Alternative sequencei1062 – 109938Missing in isoform 6 and isoform 7. VSP_040382Add
BLAST
Alternative sequencei1172 – 11721L → LV in isoform 3, isoform 7 and isoform 8. VSP_022297

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1271 – 12711P → L in BAG64623. 1 Publication
Sequence conflicti1389 – 13891K → Q in AAB40722. 1 Publication

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 134 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

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