Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Treacle protein

Gene

TCOF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Nucleolar protein that acts as a regulator of RNA polymerase I by connecting RNA polymerase I with enzymes responsible for ribosomal processing and modification (PubMed:12777385, PubMed:26399832). Required for neural crest specification: following monoubiquitination by the BCR(KBTBD8) complex, associates with NOLC1 and acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification (PubMed:26399832).2 Publications

GO - Molecular functioni

  • protein heterodimerization activity Source: UniProtKB
  • RNA binding Source: UniProtKB
  • RNA polymerase I core binding Source: UniProtKB
  • scaffold protein binding Source: CAFA
  • transporter activity Source: ProtInc

GO - Biological processi

  • neural crest cell development Source: UniProtKB
  • neural crest formation Source: UniProtKB
  • regulation of translation Source: UniProtKB
  • skeletal system development Source: ProtInc

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
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000070814.17
HGNCiHGNC:11654 TCOF1
MIMi606847 gene
neXtProtiNX_Q13428

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Treacher Collins syndrome 1 (TCS1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:154500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00563053W → R in TCS1. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi6949
GeneReviewsiTCOF1
MalaCardsiTCOF1
MIMi154500 phenotype
OpenTargetsiENSG00000070814
Orphaneti861 Treacher-Collins syndrome
PharmGKBiPA36405

Polymorphism and mutation databases

BioMutaiTCOF1
DMDMi302393806

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000724591 – 1488Treacle proteinAdd BLAST1488

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei83PhosphoserineCombined sources1
Modified residuei84PhosphothreonineCombined sources1
Modified residuei85PhosphoserineCombined sources1
Modified residuei87PhosphoserineCombined sources1
Modified residuei88PhosphoserineCombined sources1
Modified residuei102PhosphothreonineBy similarity1
Modified residuei107PhosphoserineCombined sources1
Cross-linki126Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei134N6-acetyllysineBy similarity1
Modified residuei153PhosphoserineCombined sources1
Modified residuei155N6-acetyllysineCombined sources1
Modified residuei156PhosphoserineCombined sources1
Modified residuei171PhosphoserineCombined sources1
Modified residuei173PhosphothreonineBy similarity1
Modified residuei233PhosphoserineCombined sources1
Modified residuei249PhosphothreonineCombined sources1
Modified residuei296N6-acetyllysineCombined sources1
Modified residuei310PhosphothreonineCombined sources1
Modified residuei313N6-acetyllysineBy similarity1
Modified residuei316PhosphothreonineCombined sources1
Modified residuei322N6-acetyllysineBy similarity1
Modified residuei381PhosphoserineCombined sources1
Modified residuei413PhosphoserineBy similarity1
Modified residuei414PhosphoserineBy similarity1
Modified residuei446PhosphoserineCombined sources1
Modified residuei484PhosphoserineCombined sources1
Modified residuei503PhosphoserineCombined sources1
Cross-linki507Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei533PhosphothreonineCombined sources1
Modified residuei581PhosphothreonineCombined sources1
Modified residuei583PhosphoserineCombined sources1
Modified residuei600N6-acetyllysine; alternateCombined sources1
Cross-linki600Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei620PhosphoserineCombined sources1
Cross-linki637Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei679PhosphoserineBy similarity1
Modified residuei716N6-acetyllysineBy similarity1
Modified residuei720N6-acetyllysineBy similarity1
Cross-linki725Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki732Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei755N6-acetyllysine; alternateCombined sources1
Cross-linki755Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources
Cross-linki755Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei762PhosphoserineCombined sources1
Modified residuei764PhosphoserineCombined sources1
Modified residuei765PhosphoserineCombined sources1
Modified residuei769PhosphoserineCombined sources1
Modified residuei771PhosphoserineCombined sources1
Modified residuei777PhosphoserineCombined sources1
Modified residuei868PhosphoserineCombined sources1
Modified residuei870PhosphoserineCombined sources1
Modified residuei871PhosphoserineCombined sources1
Modified residuei875PhosphoserineCombined sources1
Modified residuei877PhosphoserineCombined sources1
Modified residuei906PhosphoserineCombined sources1
Modified residuei914PhosphothreonineCombined sources1
Modified residuei967PhosphoserineCombined sources1
Modified residuei974PhosphothreonineBy similarity1
Modified residuei983PhosphothreonineCombined sources1
Modified residuei998PhosphoserineCombined sources1
Modified residuei1111PhosphoserineCombined sources1
Modified residuei1175PhosphothreonineCombined sources1
Modified residuei1190PhosphoserineCombined sources1
Modified residuei1222PhosphothreonineBy similarity1
Cross-linki1224Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1228PhosphoserineCombined sources1
Modified residuei1234PhosphothreonineCombined sources1
Cross-linki1238Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1248Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1257PhosphoserineCombined sources1
Modified residuei1350PhosphoserineCombined sources1
Modified residuei1358PhosphothreonineCombined sources1
Modified residuei1376PhosphoserineCombined sources1
Modified residuei1378PhosphoserineCombined sources1
Modified residuei1407PhosphoserineCombined sources1
Modified residuei1410PhosphoserineCombined sources1
Modified residuei1414N6-acetyllysine; alternateCombined sources1
Cross-linki1414Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei1469PhosphoserineBy similarity1
Modified residuei1471PhosphoserineBy similarity1

Post-translational modificationi

Ubiquitinated. Monoubiquitination by the BCR(KBTBD8) complex promotes the formation of a NOLC1-TCOF1 complex that acts as a platform to connect RNA polymerase I with enzymes responsible for ribosomal processing and modification, leading to remodel the translational program of differentiating cells in favor of neural crest specification (PubMed:26399832).1 Publication

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ13428
MaxQBiQ13428
PaxDbiQ13428
PeptideAtlasiQ13428
PRIDEiQ13428
ProteomicsDBi59417
59418 [Q13428-2]
59419 [Q13428-3]
59420 [Q13428-4]
59421 [Q13428-5]
59422 [Q13428-6]
59423 [Q13428-7]
59424 [Q13428-8]
TopDownProteomicsiQ13428-5 [Q13428-5]

PTM databases

iPTMnetiQ13428
PhosphoSitePlusiQ13428

Miscellaneous databases

PMAP-CutDBiQ13428

Expressioni

Gene expression databases

BgeeiENSG00000070814 Expressed in 223 organ(s), highest expression level in frontal cortex
CleanExiHS_TCOF1
ExpressionAtlasiQ13428 baseline and differential
GenevisibleiQ13428 HS

Organism-specific databases

HPAiCAB033199
HPA038237
HPA038238

Interactioni

Subunit structurei

Heterodimer; heterodimerizes with NOLC1 following monoubiquitination (PubMed:26399832). 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 (PubMed:12777385).2 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi112809, 107 interactors
CORUMiQ13428
DIPiDIP-32953N
IntActiQ13428, 24 interactors
MINTiQ13428
STRINGi9606.ENSP00000421655

Structurei

3D structure databases

ProteinModelPortaliQ13428
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini6 – 38LisHPROSITE-ProRule annotationAdd BLAST33

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi89 – 97Poly-Glu9
Compositional biasi204 – 207Poly-Ser4
Compositional biasi693 – 696Poly-Ser4
Compositional biasi996 – 1001Poly-Ser6
Compositional biasi1362 – 1366Poly-Lys5
Compositional biasi1452 – 1463Poly-LysAdd BLAST12
Compositional biasi1475 – 1482Poly-Lys8

Phylogenomic databases

eggNOGiENOG410IF55 Eukaryota
ENOG411183W LUCA
GeneTreeiENSGT00730000111382
HOVERGENiHBG006664
InParanoidiQ13428
KOiK14562
OMAiDFPECDP
OrthoDBiEOG091G08PB
PhylomeDBiQ13428
TreeFamiTF341730

Family and domain databases

InterProiView protein in InterPro
IPR006594 LisH
IPR017859 Treacle
IPR003993 Treacle_dom
PANTHERiPTHR20787 PTHR20787, 2 hits
PfamiView protein in Pfam
PF03546 Treacle, 4 hits
SMARTiView protein in SMART
SM00667 LisH, 1 hit
PROSITEiView protein in PROSITE
PS50896 LISH, 1 hit

Sequences (8+)i

Sequence statusi: Complete.

This entry describes 8 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 8 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

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
        10         20         30         40         50
MAEARKRREL LPLIYHHLLR AGYVRAAREV KEQSGQKCFL AQPVTLLDIY
60 70 80 90 100
THWQQTSELG RKRKAEEDAA LQAKKTRVSD PISTSESSEE EEEAEAETAK
110 120 130 140 150
ATPRLASTNS SVLGADLPSS MKEKAKAETE KAGKTGNSMP HPATGKTVAN
160 170 180 190 200
LLSGKSPRKS AEPSANTTLV SETEEEGSVP AFGAAAKPGM VSAGQADSSS
210 220 230 240 250
EDTSSSSDET DVEGKPSVKP AQVKASSVST KESPARKAAP APGKVGDVTP
260 270 280 290 300
QVKGGALPPA KRAKKPEEES ESSEEGSESE EEAPAGTRSQ VKASEKILQV
310 320 330 340 350
RAASAPAKGT PGKGATPAPP GKAGAVASQT KAGKPEEDSE SSSEESSDSE
360 370 380 390 400
EETPAAKALL QAKASGKTSQ VGAASAPAKE SPRKGAAPAP PGKTGPAVAK
410 420 430 440 450
AQAGKREEDS QSSSEESDSE EEAPAQAKPS GKAPQVRAAS APAKESPRKG
460 470 480 490 500
AAPAPPRKTG PAAAQVQVGK QEEDSRSSSE ESDSDREALA AMNAAQVKPL
510 520 530 540 550
GKSPQVKPAS TMGMGPLGKG AGPVPPGKVG PATPSAQVGK WEEDSESSSE
560 570 580 590 600
ESSDSSDGEV PTAVAPAQEK SLGNILQAKP TSSPAKGPPQ KAGPVAVQVK
610 620 630 640 650
AEKPMDNSES SEESSDSADS EEAPAAMTAA QAKPALKIPQ TKACPKKTNT
660 670 680 690 700
TASAKVAPVR VGTQAPRKAG TATSPAGSSP AVAGGTQRPA EDSSSSEESD
710 720 730 740 750
SEEEKTGLAV TVGQAKSVGK GLQVKAASVP VKGSLGQGTA PVLPGKTGPT
760 770 780 790 800
VTQVKAEKQE DSESSEEESD SEEAAASPAQ VKTSVKKTQA KANPAAARAP
810 820 830 840 850
SAKGTISAPG KVVTAAAQAK QRSPSKVKPP VRNPQNSTVL ARGPASVPSV
860 870 880 890 900
GKAVATAAQA QTGPEEDSGS SEEESDSEEE AETLAQVKPS GKTHQIRAAL
910 920 930 940 950
APAKESPRKG AAPTPPGKTG PSAAQAGKQD DSGSSSEESD SDGEAPAAVT
960 970 980 990 1000
SAQVIKPPLI FVDPNRSPAG PAATPAQAQA ASTPRKARAS ESTARSSSSE
1010 1020 1030 1040 1050
SEDEDVIPAT QCLTPGIRTN VVTMPTAHPR IAPKASMAGA SSSKESSRIS
1060 1070 1080 1090 1100
DGKKQEGPAT QVSKKNPASL PLTQAALKVL AQKASEAQPP VARTQPSSGV
1110 1120 1130 1140 1150
DSAVGTLPAT SPQSTSVQAK GTNKLRKPKL PEVQQATKAP ESSDDSEDSS
1160 1170 1180 1190 1200
DSSSGSEEDG EGPQGAKSAH TLGPTPSRTE TLVEETAAES SEDDVVAPSQ
1210 1220 1230 1240 1250
SLLSGYMTPG LTPANSQASK ATPKLDSSPS VSSTLAAKDD PDGKQEAKPQ
1260 1270 1280 1290 1300
QAAGMLSPKT GGKEAASGTT PQKSRKPKKG AGNPQASTLA LQSNITQCLL
1310 1320 1330 1340 1350
GQPWPLNEAQ VQASVVKVLT ELLEQERKKV VDTTKESSRK GWESRKRKLS
1360 1370 1380 1390 1400
GDQPAARTPR SKKKKKLGAG EGGEASVSPE KTSTTSKGKA KRDKASGDVK
1410 1420 1430 1440 1450
EKKGKGSLGS QGAKDEPEEE LQKGMGTVEG GDQSNPKSKK EKKKSDKRKK
1460 1470 1480
DKEKKEKKKK AKKASTKDSE SPSQKKKKKK KKTAEQTV
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

Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7ETY2E7ETY2_HUMAN
Treacle protein
TCOF1
1,488Annotation score:
J3KQ96J3KQ96_HUMAN
Treacle protein
TCOF1
1,414Annotation score:
H0YA99H0YA99_HUMAN
Treacle protein
TCOF1
188Annotation score:
H0Y8Y7H0Y8Y7_HUMAN
Treacle protein
TCOF1
994Annotation score:
H0YAB7H0YAB7_HUMAN
Treacle protein
TCOF1
148Annotation score:
A0A2R8Y857A0A2R8Y857_HUMAN
Treacle protein
TCOF1
297Annotation score:
A0A2R8Y4M7A0A2R8Y4M7_HUMAN
Treacle protein
TCOF1
108Annotation score:

Sequence cautioni

The sequence AAH16144 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1271P → L in BAG64623 (PubMed:14702039).Curated1
Sequence conflicti1389K → Q in AAB40722 (PubMed:9074926).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00563053W → R in TCS1. 1 Publication1
Natural variantiVAR_057002221A → P. Corresponds to variant dbSNP:rs11541811Ensembl.1
Natural variantiVAR_005631516P → L1 PublicationCorresponds to variant dbSNP:rs138645438EnsemblClinVar.1
Natural variantiVAR_029869665A → P4 PublicationsCorresponds to variant dbSNP:rs2071240EnsemblClinVar.1
Natural variantiVAR_005632887V → A6 PublicationsCorresponds to variant dbSNP:rs7713638EnsemblClinVar.1
Natural variantiVAR_0356661030R → K in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs1206146416Ensembl.1
Natural variantiVAR_0597291176P → R. Corresponds to variant dbSNP:rs1136103EnsemblClinVar.1
Natural variantiVAR_0597301280G → R. Corresponds to variant dbSNP:rs11541812Ensembl.1
Natural variantiVAR_0056331390A → V1 PublicationCorresponds to variant dbSNP:rs15251EnsemblClinVar.1
Natural variantiVAR_0617091431G → A. Corresponds to variant dbSNP:rs45491898EnsemblClinVar.1
Natural variantiVAR_0056341432D → G1 PublicationCorresponds to variant dbSNP:rs151344580Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_022295214 – 290Missing in isoform 2 and isoform 8. 2 PublicationsAdd BLAST77
Alternative sequenceiVSP_022296953Q → QDSNSKPARSKTLAPAPPER NTEGSSESSEEELPLTQ in isoform 4. Curated1
Alternative sequenceiVSP_023133954 – 958VIKPP → DQESS in isoform 5. 1 Publication5
Alternative sequenceiVSP_023134959 – 1488Missing in isoform 5. 1 PublicationAdd BLAST530
Alternative sequenceiVSP_0403821062 – 1099Missing in isoform 6 and isoform 7. 2 PublicationsAdd BLAST38
Alternative sequenceiVSP_0222971172L → LV in isoform 3, isoform 7 and isoform 8. 2 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_005268505.3 [Q13428-3]
UniGeneiHs.519672
Hs.605019

Genome annotation databases

EnsembliENST00000323668; ENSP00000325223; ENSG00000070814 [Q13428-2]
ENST00000377797; ENSP00000367028; ENSG00000070814 [Q13428-1]
ENST00000394269; ENSP00000377811; ENSG00000070814 [Q13428-5]
ENST00000427724; ENSP00000390717; ENSG00000070814 [Q13428-6]
ENST00000439160; ENSP00000406888; ENSG00000070814 [Q13428-7]
ENST00000445265; ENSP00000409944; ENSG00000070814 [Q13428-8]
ENST00000504761; ENSP00000421655; ENSG00000070814 [Q13428-1]
ENST00000642994; ENSP00000494375; ENSG00000070814 [Q13428-3]
ENST00000643257; ENSP00000493815; ENSG00000070814 [Q13428-3]
GeneIDi6949
KEGGihsa:6949
UCSCiuc003lrw.4 human [Q13428-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_005268505.3 [Q13428-3]
UniGeneiHs.519672
Hs.605019

3D structure databases

ProteinModelPortaliQ13428
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112809, 107 interactors
CORUMiQ13428
DIPiDIP-32953N
IntActiQ13428, 24 interactors
MINTiQ13428
STRINGi9606.ENSP00000421655

PTM databases

iPTMnetiQ13428
PhosphoSitePlusiQ13428

Polymorphism and mutation databases

BioMutaiTCOF1
DMDMi302393806

Proteomic databases

EPDiQ13428
MaxQBiQ13428
PaxDbiQ13428
PeptideAtlasiQ13428
PRIDEiQ13428
ProteomicsDBi59417
59418 [Q13428-2]
59419 [Q13428-3]
59420 [Q13428-4]
59421 [Q13428-5]
59422 [Q13428-6]
59423 [Q13428-7]
59424 [Q13428-8]
TopDownProteomicsiQ13428-5 [Q13428-5]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000323668; ENSP00000325223; ENSG00000070814 [Q13428-2]
ENST00000377797; ENSP00000367028; ENSG00000070814 [Q13428-1]
ENST00000394269; ENSP00000377811; ENSG00000070814 [Q13428-5]
ENST00000427724; ENSP00000390717; ENSG00000070814 [Q13428-6]
ENST00000439160; ENSP00000406888; ENSG00000070814 [Q13428-7]
ENST00000445265; ENSP00000409944; ENSG00000070814 [Q13428-8]
ENST00000504761; ENSP00000421655; ENSG00000070814 [Q13428-1]
ENST00000642994; ENSP00000494375; ENSG00000070814 [Q13428-3]
ENST00000643257; ENSP00000493815; ENSG00000070814 [Q13428-3]
GeneIDi6949
KEGGihsa:6949
UCSCiuc003lrw.4 human [Q13428-1]

Organism-specific databases

CTDi6949
DisGeNETi6949
EuPathDBiHostDB:ENSG00000070814.17
GeneCardsiTCOF1
GeneReviewsiTCOF1
H-InvDBiHIX0005313
HGNCiHGNC:11654 TCOF1
HPAiCAB033199
HPA038237
HPA038238
MalaCardsiTCOF1
MIMi154500 phenotype
606847 gene
neXtProtiNX_Q13428
OpenTargetsiENSG00000070814
Orphaneti861 Treacher-Collins syndrome
PharmGKBiPA36405
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IF55 Eukaryota
ENOG411183W LUCA
GeneTreeiENSGT00730000111382
HOVERGENiHBG006664
InParanoidiQ13428
KOiK14562
OMAiDFPECDP
OrthoDBiEOG091G08PB
PhylomeDBiQ13428
TreeFamiTF341730

Miscellaneous databases

ChiTaRSiTCOF1 human
GeneWikiiTreacle_protein
GenomeRNAii6949
PMAP-CutDBiQ13428
PROiPR:Q13428
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000070814 Expressed in 223 organ(s), highest expression level in frontal cortex
CleanExiHS_TCOF1
ExpressionAtlasiQ13428 baseline and differential
GenevisibleiQ13428 HS

Family and domain databases

InterProiView protein in InterPro
IPR006594 LisH
IPR017859 Treacle
IPR003993 Treacle_dom
PANTHERiPTHR20787 PTHR20787, 2 hits
PfamiView protein in Pfam
PF03546 Treacle, 4 hits
SMARTiView protein in SMART
SM00667 LisH, 1 hit
PROSITEiView protein in PROSITE
PS50896 LISH, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTCOF_HUMAN
AccessioniPrimary (citable) accession number: Q13428
Secondary accession number(s): A0JLU0
, B4E111, Q6SC72, Q7Z5W9, Q96A52, Q99408, Q99860
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: August 10, 2010
Last modified: November 7, 2018
This is version 176 of the entry and version 3 of the sequence. See 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again