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Protein

Treacle protein

Gene

TCOF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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.By similarity1 Publication

GO - Molecular functioni

  • poly(A) RNA binding Source: UniProtKB
  • transporter activity Source: ProtInc

GO - Biological processi

  • skeletal system development Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000070814-MONOMER.

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

HGNCiHGNC:11654. TCOF1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

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.
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
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
Modified residuei679PhosphoserineBy similarity1
Modified residuei716N6-acetyllysineBy similarity1
Modified residuei720N6-acetyllysineBy similarity1
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
Modified residuei1228PhosphoserineCombined sources1
Modified residuei1234PhosphothreonineCombined sources1
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

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ13428.
MaxQBiQ13428.
PaxDbiQ13428.
PeptideAtlasiQ13428.
PRIDEiQ13428.
TopDownProteomicsiQ13428-5. [Q13428-5]

PTM databases

iPTMnetiQ13428.
PhosphoSitePlusiQ13428.

Miscellaneous databases

PMAP-CutDBQ13428.

Expressioni

Gene expression databases

BgeeiENSG00000070814.
CleanExiHS_TCOF1.
ExpressionAtlasiQ13428. baseline and differential.
GenevisibleiQ13428. HS.

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. 60 interactors.
DIPiDIP-32953N.
IntActiQ13428. 22 interactors.
MINTiMINT-4995561.
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

Sequence similaritiesi

Contains 1 LisH domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiENOG410IF55. Eukaryota.
ENOG411183W. LUCA.
GeneTreeiENSGT00730000111382.
HOVERGENiHBG006664.
InParanoidiQ13428.
KOiK14562.
OMAiEGPQVAK.
OrthoDBiEOG091G08PB.
PhylomeDBiQ13428.
TreeFamiTF341730.

Family and domain databases

InterProiIPR006594. LisH.
IPR003993. TCS_treacle.
IPR017859. Treacle-like_TCS.
[Graphical view]
PfamiPF03546. Treacle. 4 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. AlignAdd to basket

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

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 rs11541811dbSNPEnsembl.1
Natural variantiVAR_005631516P → L.1 PublicationCorresponds to variant rs138645438dbSNPEnsembl.1
Natural variantiVAR_029869665A → P.4 PublicationsCorresponds to variant rs2071240dbSNPEnsembl.1
Natural variantiVAR_005632887V → A.6 PublicationsCorresponds to variant rs7713638dbSNPEnsembl.1
Natural variantiVAR_0356661030R → K in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0597291176P → R.Corresponds to variant rs1136103dbSNPEnsembl.1
Natural variantiVAR_0597301280G → R.Corresponds to variant rs11541812dbSNPEnsembl.1
Natural variantiVAR_0056331390A → V.1 PublicationCorresponds to variant rs15251dbSNPEnsembl.1
Natural variantiVAR_0617091431G → A.Corresponds to variant rs45491898dbSNPEnsembl.1
Natural variantiVAR_0056341432D → G.1 PublicationCorresponds to variant rs151344580dbSNPEnsembl.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]
ENST00000439160; ENSP00000406888; ENSG00000070814. [Q13428-7]
ENST00000445265; ENSP00000409944; ENSG00000070814. [Q13428-8]
ENST00000504761; ENSP00000421655; ENSG00000070814. [Q13428-1]
GeneIDi6949.
KEGGihsa:6949.
UCSCiuc003lrw.4. human. [Q13428-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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. 60 interactors.
DIPiDIP-32953N.
IntActiQ13428. 22 interactors.
MINTiMINT-4995561.
STRINGi9606.ENSP00000421655.

PTM databases

iPTMnetiQ13428.
PhosphoSitePlusiQ13428.

Polymorphism and mutation databases

BioMutaiTCOF1.
DMDMi302393806.

Proteomic databases

EPDiQ13428.
MaxQBiQ13428.
PaxDbiQ13428.
PeptideAtlasiQ13428.
PRIDEiQ13428.
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]
ENST00000439160; ENSP00000406888; ENSG00000070814. [Q13428-7]
ENST00000445265; ENSP00000409944; ENSG00000070814. [Q13428-8]
ENST00000504761; ENSP00000421655; ENSG00000070814. [Q13428-1]
GeneIDi6949.
KEGGihsa:6949.
UCSCiuc003lrw.4. human. [Q13428-1]

Organism-specific databases

CTDi6949.
DisGeNETi6949.
GeneCardsiTCOF1.
GeneReviewsiTCOF1.
H-InvDBHIX0005313.
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.
OMAiEGPQVAK.
OrthoDBiEOG091G08PB.
PhylomeDBiQ13428.
TreeFamiTF341730.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000070814-MONOMER.

Miscellaneous databases

ChiTaRSiTCOF1. human.
GeneWikiiTreacle_protein.
GenomeRNAii6949.
PMAP-CutDBQ13428.
PROiQ13428.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000070814.
CleanExiHS_TCOF1.
ExpressionAtlasiQ13428. baseline and differential.
GenevisibleiQ13428. HS.

Family and domain databases

InterProiIPR006594. LisH.
IPR003993. TCS_treacle.
IPR017859. Treacle-like_TCS.
[Graphical view]
PfamiPF03546. Treacle. 4 hits.
[Graphical view]
PRINTSiPR01503. TREACLE.
SMARTiSM00667. LisH. 1 hit.
[Graphical view]
PROSITEiPS50896. LISH. 1 hit.
[Graphical view]
ProtoNetiSearch...

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: November 2, 2016
This is version 157 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.