Treacle protein - Homo sapiens (Human)

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Names and origin

Protein names

Recommended name:
Treacle protein
Alternative name(s):
Treacher Collins syndrome protein

Gene names

Name:

TCOF1

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length	1488 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

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General annotation (Comments)

Function	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.
Subcellular location	Nucleus › nucleolus Potential.
Post-translational modification	Phosphorylated upon DNA damage, probably by ATM or ATR. Ref.6 Ref.7 Ref.8 Ref.9 Ref.10 Ref.11 Ref.12 Ref.13 Ref.14 Ref.15
Involvement in disease	Defects in TCOF1 are the cause of Treacher Collins syndrome (TCS) [MIM:154500]. TCS is an autosomal dominant disorder of craniofacial development that occurs with an incidence of 1/50,000 live births. The clinical features of TCS are bilaterally symmetrical and include: (1) abnormalities of the external ears, atresia of the external ear canals, and malformation of the middle ear ossicles, which may result in conductive hearing loss; (2) lateral downward sloping of palpebral fissures, frequently with colobomas of the lower eyelids; (3) hypoplasia of the mandible and zygomatic complex; (4) cleft palate. Ref.16
Sequence similarities	Contains 1 LisH domain.

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Ontologies

Keywords
Biological process	Transport
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation
PTM	Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	skeletal system development Ref.3 Traceable author statement. Source: ProtInc transport Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	nucleolus Ref.3 Inferred from direct assay. Source: MGI
Molecular function	protein binding Inferred from physical interaction. Source: IntAct transporter activity Ref.3 Traceable author statement. Source: ProtInc
Complete GO annotation...

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Binary interactions

With	Entry	#Exp.	IntAct	Notes
ARRB1	P49407	2	EBI-396105,EBI-743313
ARRB2	P32121	2	EBI-396105,EBI-714559

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Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q13428-1) 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.
Note: Major.

Isoform 2 (identifier: Q13428-2) The sequence of this isoform differs from the canonical sequence as follows: 214-290: Missing. 1172-1172: L → LV

Isoform 3 (identifier: Q13428-3) The sequence of this isoform differs from the canonical sequence as follows: 1172-1172: L → LV

Isoform 4 (identifier: Q13428-4) The sequence of this isoform differs from the canonical sequence as follows: 953-953: Q → QDSNSKPARSKTLAPAPPERNTEGSSESSEEELPLTQ
Note: Minor.

Isoform 5 (identifier: Q13428-5) The sequence of this isoform differs from the canonical sequence as follows: 954-958: VIKPP → DQESS 959-1488: Missing.
Note: No experimental confirmation available.

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 1488

1488

Treacle protein

PRO_0000072459

Regions

Domain

6 – 38

33

LisH

Compositional bias

89 – 97

9

Poly-Glu

Compositional bias

204 – 207

4

Poly-Ser

Compositional bias

693 – 696

4

Poly-Ser

Compositional bias

996 – 1001

6

Poly-Ser

Compositional bias

1362 – 1366

5

Poly-Lys

Compositional bias

1452 – 1463

12

Poly-Lys

Compositional bias

1475 – 1482

8

Poly-Lys

Amino acid modifications

Modified residue

83

1

Phosphoserine Ref.7 Ref.15

Modified residue

84

1

Phosphothreonine Ref.7 Ref.15

Modified residue

85

1

Phosphoserine Ref.7 Ref.15

Modified residue

87

1

Phosphoserine Ref.7 Ref.15

Modified residue

88

1

Phosphoserine Ref.7 Ref.15

Modified residue

138

1

Phosphoserine Ref.10

Modified residue

144

1

Phosphothreonine Ref.10

Modified residue

153

1

Phosphoserine Ref.10 Ref.12 Ref.15

Modified residue

156

1

Phosphoserine Ref.9 Ref.12 Ref.15

Modified residue

160

1

Phosphoserine Ref.10

Modified residue

164

1

Phosphoserine Ref.7

Modified residue

171

1

Phosphoserine Ref.7

Modified residue

173

1

Phosphothreonine By similarity

Modified residue

233

1

Phosphoserine Ref.7

Modified residue

249

1

Phosphothreonine Ref.8 Ref.15

Modified residue

304

1

Phosphoserine Ref.9

Modified residue

310

1

Phosphothreonine Ref.9 Ref.15

Modified residue

316

1

Phosphothreonine Ref.9 Ref.15

Modified residue

339

1

Phosphoserine By similarity

Modified residue

342

1

Phosphoserine By similarity

Modified residue

343

1

Phosphoserine By similarity

Modified residue

347

1

Phosphoserine By similarity

Modified residue

349

1

Phosphoserine By similarity

Modified residue

381

1

Phosphoserine Ref.9 Ref.10 Ref.12 Ref.15

Modified residue

394

1

Phosphothreonine Ref.10

Modified residue

413

1

Phosphoserine By similarity

Modified residue

414

1

Phosphoserine By similarity

Modified residue

417

1

Phosphoserine By similarity

Modified residue

419

1

Phosphoserine By similarity

Modified residue

430

1

Phosphoserine By similarity

Modified residue

446

1

Phosphoserine Ref.7 Ref.9 Ref.10

Modified residue

475

1

Phosphoserine Ref.7

Modified residue

477

1

Phosphoserine Ref.7

Modified residue

478

1

Phosphoserine Ref.7

Modified residue

479

1

Phosphoserine Ref.7

Modified residue

482

1

Phosphoserine Ref.7

Modified residue

484

1

Phosphoserine Ref.7

Modified residue

503

1

Phosphoserine Ref.15

Modified residue

545

1

Phosphoserine By similarity

Modified residue

547

1

Phosphoserine By similarity

Modified residue

548

1

Phosphoserine By similarity

Modified residue

549

1

Phosphoserine By similarity

Modified residue

581

1

Phosphothreonine Ref.15

Modified residue

582

1

Phosphoserine Ref.9 Ref.12

Modified residue

583

1

Phosphoserine Ref.9 Ref.10 Ref.12 Ref.15

Modified residue

608

1

Phosphoserine Ref.7

Modified residue

610

1

Phosphoserine Ref.7

Modified residue

611

1

Phosphoserine Ref.7

Modified residue

614

1

Phosphoserine Ref.7

Modified residue

615

1

Phosphoserine Ref.7

Modified residue

617

1

Phosphoserine Ref.7

Modified residue

620

1

Phosphoserine Ref.7

Modified residue

679

1

Phosphoserine By similarity

Modified residue

686

1

Phosphothreonine By similarity

Modified residue

693

1

Phosphoserine By similarity

Modified residue

694

1

Phosphoserine By similarity

Modified residue

695

1

Phosphoserine By similarity

Modified residue

762

1

Phosphoserine Ref.15

Modified residue

764

1

Phosphoserine Ref.10 Ref.15

Modified residue

765

1

Phosphoserine Ref.15

Modified residue

769

1

Phosphoserine Ref.15

Modified residue

771

1

Phosphoserine Ref.15

Modified residue

777

1

Phosphoserine Ref.15

Modified residue

784

1

Phosphoserine Ref.10

Modified residue

801

1

Phosphoserine Ref.10

Modified residue

805

1

Phosphothreonine Ref.10

Modified residue

868

1

Phosphoserine Ref.7 Ref.15

Modified residue

870

1

Phosphoserine Ref.7 Ref.15

Modified residue

871

1

Phosphoserine Ref.7 Ref.15

Modified residue

875

1

Phosphoserine Ref.7 Ref.15

Modified residue

877

1

Phosphoserine Ref.7 Ref.15

Modified residue

906

1

Phosphoserine Ref.7 Ref.9 Ref.10 Ref.13 Ref.14 Ref.15

Modified residue

914

1

Phosphothreonine Ref.9

Modified residue

932

1

Phosphoserine Ref.7

Modified residue

934

1

Phosphoserine Ref.7

Modified residue

935

1

Phosphoserine Ref.7

Modified residue

936

1

Phosphoserine Ref.7

Modified residue

939

1

Phosphoserine Ref.7

Modified residue

941

1

Phosphoserine Ref.7

Modified residue

967

1

Phosphoserine Ref.6 Ref.13

Modified residue

983

1

Phosphothreonine Ref.13

Modified residue

996

1

Phosphoserine Ref.7 Ref.15

Modified residue

997

1

Phosphoserine Ref.7 Ref.15

Modified residue

998

1

Phosphoserine Ref.7 Ref.15

Modified residue

999

1

Phosphoserine Ref.7 Ref.15

Modified residue

1001

1

Phosphoserine Ref.7 Ref.15

Modified residue

1111

1

Phosphoserine Ref.6 Ref.8 Ref.15

Modified residue

1149

1

Phosphoserine By similarity

Modified residue

1150

1

Phosphoserine By similarity

Modified residue

1153

1

Phosphoserine By similarity

Modified residue

1154

1

Phosphoserine By similarity

Modified residue

1190

1

Phosphoserine Ref.15

Modified residue

1191

1

Phosphoserine Ref.15

Modified residue

1228

1

Phosphoserine Ref.6 Ref.8 Ref.12 Ref.15

Modified residue

1234

1

Phosphothreonine Ref.15

Modified residue

1257

1

Phosphoserine Ref.7 Ref.10 Ref.15

Modified residue

1350

1

Phosphoserine Ref.7 Ref.9 Ref.10 Ref.14 Ref.15

Modified residue

1358

1

Phosphothreonine Ref.10 Ref.15

Modified residue

1361

1

Phosphoserine Ref.10

Modified residue

1376

1

Phosphoserine Ref.6 Ref.10 Ref.15

Modified residue

1378

1

Phosphoserine Ref.6 Ref.7 Ref.8 Ref.10 Ref.12 Ref.14 Ref.15

Modified residue

1407

1

Phosphoserine Ref.15

Modified residue

1410

1

Phosphoserine Ref.11 Ref.15

Modified residue

1471

1

Phosphoserine Ref.6 Ref.7

Natural variations

Alternative sequence

214 – 290

77

Missing in isoform 2.

VSP_022295

Alternative sequence

953

1

Q → QDSNSKPARSKTLAPAPPER NTEGSSESSEEELPLTQ in isoform 4.

VSP_022296

Alternative sequence

954 – 958

5

VIKPP → DQESS in isoform 5.

VSP_023133

Alternative sequence

959 – 1488

530

Missing in isoform 5.

VSP_023134

Alternative sequence

1172

1

L → LV in isoform 2 and isoform 3.

VSP_022297

Natural variant

53

1

W → R in TCS. Ref.16

VAR_005630

Natural variant

221

1

A → P: dbSNP rs11541811.

VAR_057002

Natural variant

516

1

P → L Ref.16

VAR_005631

Natural variant

665

1

P → A: dbSNP rs2071240. Ref.5

VAR_029869

Natural variant

887

1

A → V: dbSNP rs7713638. Ref.16 Ref.5

VAR_005632

Natural variant

1030

1

R → K in a colorectal cancer sample; somatic mutation. Ref.17

VAR_035666

Natural variant

1390

1

A → V: dbSNP rs15251. Ref.16

VAR_005633

Natural variant

1432

1

D → G Ref.16

VAR_005634

Experimental info

Sequence conflict

1389

1

K → Q in AAB40722. Ref.2

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Sequences

Sequence		Length	Mass (Da)
Isoform 1 [UniParc]. Last modified January 9, 2007. Version 2. Checksum: 0F2988F5D7B53D20 Show »	FASTA	1,488	152,104
10 20 30 40 50 60 MAEARKRREL LPLIYHHLLR AGYVRAAREV KEQSGQKCFL AQPVTLLDIY THWQQTSELG 70 80 90 100 110 120 RKRKAEEDAA LQAKKTRVSD PISTSESSEE EEEAEAETAK ATPRLASTNS SVLGADLPSS 130 140 150 160 170 180 MKEKAKAETE KAGKTGNSMP HPATGKTVAN LLSGKSPRKS AEPSANTTLV SETEEEGSVP 190 200 210 220 230 240 AFGAAAKPGM VSAGQADSSS EDTSSSSDET DVEGKPSVKP AQVKASSVST KESPARKAAP 250 260 270 280 290 300 APGKVGDVTP QVKGGALPPA KRAKKPEEES ESSEEGSESE EEAPAGTRSQ VKASEKILQV 310 320 330 340 350 360 RAASAPAKGT PGKGATPAPP GKAGAVASQT KAGKPEEDSE SSSEESSDSE EETPAAKALL 370 380 390 400 410 420 QAKASGKTSQ VGAASAPAKE SPRKGAAPAP PGKTGPAVAK AQAGKREEDS QSSSEESDSE 430 440 450 460 470 480 EEAPAQAKPS GKAPQVRAAS APAKESPRKG AAPAPPRKTG PAAAQVQVGK QEEDSRSSSE 490 500 510 520 530 540 ESDSDREALA AMNAAQVKPL GKSPQVKPAS TMGMGPLGKG AGPVPPGKVG PATPSAQVGK 550 560 570 580 590 600 WEEDSESSSE ESSDSSDGEV PTAVAPAQEK SLGNILQAKP TSSPAKGPPQ KAGPVAVQVK 610 620 630 640 650 660 AEKPMDNSES SEESSDSADS EEAPAAMTAA QAKPALKIPQ TKACPKKTNT TASAKVAPVR 670 680 690 700 710 720 VGTQPPRKAG TATSPAGSSP AVAGGTQRPA EDSSSSEESD SEEEKTGLAV TVGQAKSVGK 730 740 750 760 770 780 GLQVKAASVP VKGSLGQGTA PVLPGKTGPT VTQVKAEKQE DSESSEEESD SEEAAASPAQ 790 800 810 820 830 840 VKTSVKKTQA KANPAAARAP SAKGTISAPG KVVTAAAQAK QRSPSKVKPP VRNPQNSTVL 850 860 870 880 890 900 ARGPASVPSV GKAVATAAQA QTGPEEDSGS SEEESDSEEE AETLAQAKPS GKTHQIRAAL 910 920 930 940 950 960 APAKESPRKG AAPTPPGKTG PSAAQAGKQD DSGSSSEESD SDGEAPAAVT SAQVIKPPLI 970 980 990 1000 1010 1020 FVDPNRSPAG PAATPAQAQA ASTPRKARAS ESTARSSSSE SEDEDVIPAT QCLTPGIRTN 1030 1040 1050 1060 1070 1080 VVTMPTAHPR IAPKASMAGA SSSKESSRIS DGKKQEGPAT QVSKKNPASL PLTQAALKVL 1090 1100 1110 1120 1130 1140 AQKASEAQPP VARTQPSSGV DSAVGTLPAT SPQSTSVQAK GTNKLRKPKL PEVQQATKAP 1150 1160 1170 1180 1190 1200 ESSDDSEDSS DSSSGSEEDG EGPQGAKSAH TLGPTPSRTE TLVEETAAES SEDDVVAPSQ 1210 1220 1230 1240 1250 1260 SLLSGYMTPG LTPANSQASK ATPKLDSSPS VSSTLAAKDD PDGKQEAKPQ QAAGMLSPKT 1270 1280 1290 1300 1310 1320 GGKEAASGTT PQKSRKPKKG AGNPQASTLA LQSNITQCLL GQPWPLNEAQ VQASVVKVLT 1330 1340 1350 1360 1370 1380 ELLEQERKKV VDTTKESSRK GWESRKRKLS GDQPAARTPR SKKKKKLGAG EGGEASVSPE 1390 1400 1410 1420 1430 1440 KTSTTSKGKA KRDKASGDVK EKKGKGSLGS QGAKDEPEEE LQKGMGTVEG GDQSNPKSKK 1450 1460 1470 1480 EKKKSDKRKK DKEKKEKKKK AKKASTKDSE SPSQKKKKKK KKTAEQTV « Hide
Isoform 2. Checksum: 2272B824079B9793 Show »	FASTA	1,412	144,412
10 20 30 40 50 60 MAEARKRREL LPLIYHHLLR AGYVRAAREV KEQSGQKCFL AQPVTLLDIY THWQQTSELG 70 80 90 100 110 120 RKRKAEEDAA LQAKKTRVSD PISTSESSEE EEEAEAETAK ATPRLASTNS SVLGADLPSS 130 140 150 160 170 180 MKEKAKAETE KAGKTGNSMP HPATGKTVAN LLSGKSPRKS AEPSANTTLV SETEEEGSVP 190 200 210 220 230 240 AFGAAAKPGM VSAGQADSSS EDTSSSSDET DVEVKASEKI LQVRAASAPA KGTPGKGATP 250 260 270 280 290 300 APPGKAGAVA SQTKAGKPEE DSESSSEESS DSEEETPAAK ALLQAKASGK TSQVGAASAP 310 320 330 340 350 360 AKESPRKGAA PAPPGKTGPA VAKAQAGKRE EDSQSSSEES DSEEEAPAQA KPSGKAPQVR 370 380 390 400 410 420 AASAPAKESP RKGAAPAPPR KTGPAAAQVQ VGKQEEDSRS SSEESDSDRE ALAAMNAAQV 430 440 450 460 470 480 KPLGKSPQVK PASTMGMGPL GKGAGPVPPG KVGPATPSAQ VGKWEEDSES SSEESSDSSD 490 500 510 520 530 540 GEVPTAVAPA QEKSLGNILQ AKPTSSPAKG PPQKAGPVAV QVKAEKPMDN SESSEESSDS 550 560 570 580 590 600 ADSEEAPAAM TAAQAKPALK IPQTKACPKK TNTTASAKVA PVRVGTQPPR KAGTATSPAG 610 620 630 640 650 660 SSPAVAGGTQ RPAEDSSSSE ESDSEEEKTG LAVTVGQAKS VGKGLQVKAA SVPVKGSLGQ 670 680 690 700 710 720 GTAPVLPGKT GPTVTQVKAE KQEDSESSEE ESDSEEAAAS PAQVKTSVKK TQAKANPAAA 730 740 750 760 770 780 RAPSAKGTIS APGKVVTAAA QAKQRSPSKV KPPVRNPQNS TVLARGPASV PSVGKAVATA 790 800 810 820 830 840 AQAQTGPEED SGSSEEESDS EEEAETLAQA KPSGKTHQIR AALAPAKESP RKGAAPTPPG 850 860 870 880 890 900 KTGPSAAQAG KQDDSGSSSE ESDSDGEAPA AVTSAQVIKP PLIFVDPNRS PAGPAATPAQ 910 920 930 940 950 960 AQAASTPRKA RASESTARSS SSESEDEDVI PATQCLTPGI RTNVVTMPTA HPRIAPKASM 970 980 990 1000 1010 1020 AGASSSKESS RISDGKKQEG PATQVSKKNP ASLPLTQAAL KVLAQKASEA QPPVARTQPS 1030 1040 1050 1060 1070 1080 SGVDSAVGTL PATSPQSTSV QAKGTNKLRK PKLPEVQQAT KAPESSDDSE DSSDSSSGSE 1090 1100 1110 1120 1130 1140 EDGEGPQGAK SAHTLVGPTP SRTETLVEET AAESSEDDVV APSQSLLSGY MTPGLTPANS 1150 1160 1170 1180 1190 1200 QASKATPKLD SSPSVSSTLA AKDDPDGKQE AKPQQAAGML SPKTGGKEAA SGTTPQKSRK 1210 1220 1230 1240 1250 1260 PKKGAGNPQA STLALQSNIT QCLLGQPWPL NEAQVQASVV KVLTELLEQE RKKVVDTTKE 1270 1280 1290 1300 1310 1320 SSRKGWESRK RKLSGDQPAA RTPRSKKKKK LGAGEGGEAS VSPEKTSTTS KGKAKRDKAS 1330 1340 1350 1360 1370 1380 GDVKEKKGKG SLGSQGAKDE PEEELQKGMG TVEGGDQSNP KSKKEKKKSD KRKKDKEKKE 1390 1400 1410 KKKKAKKAST KDSESPSQKK KKKKKKTAEQ TV « Hide
Isoform 3. Checksum: DB75118CCFD47E88 Show »	FASTA	1,489	152,203
10 20 30 40 50 60 MAEARKRREL LPLIYHHLLR AGYVRAAREV KEQSGQKCFL AQPVTLLDIY THWQQTSELG 70 80 90 100 110 120 RKRKAEEDAA LQAKKTRVSD PISTSESSEE EEEAEAETAK ATPRLASTNS SVLGADLPSS 130 140 150 160 170 180 MKEKAKAETE KAGKTGNSMP HPATGKTVAN LLSGKSPRKS AEPSANTTLV SETEEEGSVP 190 200 210 220 230 240 AFGAAAKPGM VSAGQADSSS EDTSSSSDET DVEGKPSVKP AQVKASSVST KESPARKAAP 250 260 270 280 290 300 APGKVGDVTP QVKGGALPPA KRAKKPEEES ESSEEGSESE EEAPAGTRSQ VKASEKILQV 310 320 330 340 350 360 RAASAPAKGT PGKGATPAPP GKAGAVASQT KAGKPEEDSE SSSEESSDSE EETPAAKALL 370 380 390 400 410 420 QAKASGKTSQ VGAASAPAKE SPRKGAAPAP PGKTGPAVAK AQAGKREEDS QSSSEESDSE 430 440 450 460 470 480 EEAPAQAKPS GKAPQVRAAS APAKESPRKG AAPAPPRKTG PAAAQVQVGK QEEDSRSSSE 490 500 510 520 530 540 ESDSDREALA AMNAAQVKPL GKSPQVKPAS TMGMGPLGKG AGPVPPGKVG PATPSAQVGK 550 560 570 580 590 600 WEEDSESSSE ESSDSSDGEV PTAVAPAQEK SLGNILQAKP TSSPAKGPPQ KAGPVAVQVK 610 620 630 640 650 660 AEKPMDNSES SEESSDSADS EEAPAAMTAA QAKPALKIPQ TKACPKKTNT TASAKVAPVR 670 680 690 700 710 720 VGTQPPRKAG TATSPAGSSP AVAGGTQRPA EDSSSSEESD SEEEKTGLAV TVGQAKSVGK 730 740 750 760 770 780 GLQVKAASVP VKGSLGQGTA PVLPGKTGPT VTQVKAEKQE DSESSEEESD SEEAAASPAQ 790 800 810 820 830 840 VKTSVKKTQA KANPAAARAP SAKGTISAPG KVVTAAAQAK QRSPSKVKPP VRNPQNSTVL 850 860 870 880 890 900 ARGPASVPSV GKAVATAAQA QTGPEEDSGS SEEESDSEEE AETLAQAKPS GKTHQIRAAL 910 920 930 940 950 960 APAKESPRKG AAPTPPGKTG PSAAQAGKQD DSGSSSEESD SDGEAPAAVT SAQVIKPPLI 970 980 990 1000 1010 1020 FVDPNRSPAG PAATPAQAQA ASTPRKARAS ESTARSSSSE SEDEDVIPAT QCLTPGIRTN 1030 1040 1050 1060 1070 1080 VVTMPTAHPR IAPKASMAGA SSSKESSRIS DGKKQEGPAT QVSKKNPASL PLTQAALKVL 1090 1100 1110 1120 1130 1140 AQKASEAQPP VARTQPSSGV DSAVGTLPAT SPQSTSVQAK GTNKLRKPKL PEVQQATKAP 1150 1160 1170 1180 1190 1200 ESSDDSEDSS DSSSGSEEDG EGPQGAKSAH TLVGPTPSRT ETLVEETAAE SSEDDVVAPS 1210 1220 1230 1240 1250 1260 QSLLSGYMTP GLTPANSQAS KATPKLDSSP SVSSTLAAKD DPDGKQEAKP QQAAGMLSPK 1270 1280 1290 1300 1310 1320 TGGKEAASGT TPQKSRKPKK GAGNPQASTL ALQSNITQCL LGQPWPLNEA QVQASVVKVL 1330 1340 1350 1360 1370 1380 TELLEQERKK VVDTTKESSR KGWESRKRKL SGDQPAARTP RSKKKKKLGA GEGGEASVSP 1390 1400 1410 1420 1430 1440 EKTSTTSKGK AKRDKASGDV KEKKGKGSLG SQGAKDEPEE ELQKGMGTVE GGDQSNPKSK 1450 1460 1470 1480 KEKKKSDKRK KDKEKKEKKK KAKKASTKDS ESPSQKKKKK KKKTAEQTV « Hide
Isoform 4. Checksum: EADE2843720E4754 Show »	FASTA	1,524	155,927
10 20 30 40 50 60 MAEARKRREL LPLIYHHLLR AGYVRAAREV KEQSGQKCFL AQPVTLLDIY THWQQTSELG 70 80 90 100 110 120 RKRKAEEDAA LQAKKTRVSD PISTSESSEE EEEAEAETAK ATPRLASTNS SVLGADLPSS 130 140 150 160 170 180 MKEKAKAETE KAGKTGNSMP HPATGKTVAN LLSGKSPRKS AEPSANTTLV SETEEEGSVP 190 200 210 220 230 240 AFGAAAKPGM VSAGQADSSS EDTSSSSDET DVEGKPSVKP AQVKASSVST KESPARKAAP 250 260 270 280 290 300 APGKVGDVTP QVKGGALPPA KRAKKPEEES ESSEEGSESE EEAPAGTRSQ VKASEKILQV 310 320 330 340 350 360 RAASAPAKGT PGKGATPAPP GKAGAVASQT KAGKPEEDSE SSSEESSDSE EETPAAKALL 370 380 390 400 410 420 QAKASGKTSQ VGAASAPAKE SPRKGAAPAP PGKTGPAVAK AQAGKREEDS QSSSEESDSE 430 440 450 460 470 480 EEAPAQAKPS GKAPQVRAAS APAKESPRKG AAPAPPRKTG PAAAQVQVGK QEEDSRSSSE 490 500 510 520 530 540 ESDSDREALA AMNAAQVKPL GKSPQVKPAS TMGMGPLGKG AGPVPPGKVG PATPSAQVGK 550 560 570 580 590 600 WEEDSESSSE ESSDSSDGEV PTAVAPAQEK SLGNILQAKP TSSPAKGPPQ KAGPVAVQVK 610 620 630 640 650 660 AEKPMDNSES SEESSDSADS EEAPAAMTAA QAKPALKIPQ TKACPKKTNT TASAKVAPVR 670 680 690 700 710 720 VGTQPPRKAG TATSPAGSSP AVAGGTQRPA EDSSSSEESD SEEEKTGLAV TVGQAKSVGK 730 740 750 760 770 780 GLQVKAASVP VKGSLGQGTA PVLPGKTGPT VTQVKAEKQE DSESSEEESD SEEAAASPAQ 790 800 810 820 830 840 VKTSVKKTQA KANPAAARAP SAKGTISAPG KVVTAAAQAK QRSPSKVKPP VRNPQNSTVL 850 860 870 880 890 900 ARGPASVPSV GKAVATAAQA QTGPEEDSGS SEEESDSEEE AETLAQAKPS GKTHQIRAAL 910 920 930 940 950 960 APAKESPRKG AAPTPPGKTG PSAAQAGKQD DSGSSSEESD SDGEAPAAVT SAQDSNSKPA 970 980 990 1000 1010 1020 RSKTLAPAPP ERNTEGSSES SEEELPLTQV IKPPLIFVDP NRSPAGPAAT PAQAQAASTP 1030 1040 1050 1060 1070 1080 RKARASESTA RSSSSESEDE DVIPATQCLT PGIRTNVVTM PTAHPRIAPK ASMAGASSSK 1090 1100 1110 1120 1130 1140 ESSRISDGKK QEGPATQVSK KNPASLPLTQ AALKVLAQKA SEAQPPVART QPSSGVDSAV 1150 1160 1170 1180 1190 1200 GTLPATSPQS TSVQAKGTNK LRKPKLPEVQ QATKAPESSD DSEDSSDSSS GSEEDGEGPQ 1210 1220 1230 1240 1250 1260 GAKSAHTLGP TPSRTETLVE ETAAESSEDD VVAPSQSLLS GYMTPGLTPA NSQASKATPK 1270 1280 1290 1300 1310 1320 LDSSPSVSST LAAKDDPDGK QEAKPQQAAG MLSPKTGGKE AASGTTPQKS RKPKKGAGNP 1330 1340 1350 1360 1370 1380 QASTLALQSN ITQCLLGQPW PLNEAQVQAS VVKVLTELLE QERKKVVDTT KESSRKGWES 1390 1400 1410 1420 1430 1440 RKRKLSGDQP AARTPRSKKK KKLGAGEGGE ASVSPEKTST TSKGKAKRDK ASGDVKEKKG 1450 1460 1470 1480 1490 1500 KGSLGSQGAK DEPEEELQKG MGTVEGGDQS NPKSKKEKKK SDKRKKDKEK KEKKKKAKKA 1510 1520 STKDSESPSQ KKKKKKKKTA EQTV « Hide
Isoform 5. Checksum: 0297EE84C414F4DF Show »	FASTA	958	96,755
10 20 30 40 50 60 MAEARKRREL LPLIYHHLLR AGYVRAAREV KEQSGQKCFL AQPVTLLDIY THWQQTSELG 70 80 90 100 110 120 RKRKAEEDAA LQAKKTRVSD PISTSESSEE EEEAEAETAK ATPRLASTNS SVLGADLPSS 130 140 150 160 170 180 MKEKAKAETE KAGKTGNSMP HPATGKTVAN LLSGKSPRKS AEPSANTTLV SETEEEGSVP 190 200 210 220 230 240 AFGAAAKPGM VSAGQADSSS EDTSSSSDET DVEGKPSVKP AQVKASSVST KESPARKAAP 250 260 270 280 290 300 APGKVGDVTP QVKGGALPPA KRAKKPEEES ESSEEGSESE EEAPAGTRSQ VKASEKILQV 310 320 330 340 350 360 RAASAPAKGT PGKGATPAPP GKAGAVASQT KAGKPEEDSE SSSEESSDSE EETPAAKALL 370 380 390 400 410 420 QAKASGKTSQ VGAASAPAKE SPRKGAAPAP PGKTGPAVAK AQAGKREEDS QSSSEESDSE 430 440 450 460 470 480 EEAPAQAKPS GKAPQVRAAS APAKESPRKG AAPAPPRKTG PAAAQVQVGK QEEDSRSSSE 490 500 510 520 530 540 ESDSDREALA AMNAAQVKPL GKSPQVKPAS TMGMGPLGKG AGPVPPGKVG PATPSAQVGK 550 560 570 580 590 600 WEEDSESSSE ESSDSSDGEV PTAVAPAQEK SLGNILQAKP TSSPAKGPPQ KAGPVAVQVK 610 620 630 640 650 660 AEKPMDNSES SEESSDSADS EEAPAAMTAA QAKPALKIPQ TKACPKKTNT TASAKVAPVR 670 680 690 700 710 720 VGTQPPRKAG TATSPAGSSP AVAGGTQRPA EDSSSSEESD SEEEKTGLAV TVGQAKSVGK 730 740 750 760 770 780 GLQVKAASVP VKGSLGQGTA PVLPGKTGPT VTQVKAEKQE DSESSEEESD SEEAAASPAQ 790 800 810 820 830 840 VKTSVKKTQA KANPAAARAP SAKGTISAPG KVVTAAAQAK QRSPSKVKPP VRNPQNSTVL 850 860 870 880 890 900 ARGPASVPSV GKAVATAAQA QTGPEEDSGS SEEESDSEEE AETLAQAKPS GKTHQIRAAL 910 920 930 940 950 APAKESPRKG AAPTPPGKTG PSAAQAGKQD DSGSSSEESD SDGEAPAAVT SAQDQESS « Hide

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References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: 8563749] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[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: 9074926] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
[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: 9096354] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
[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: 15019983] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ALTERNATIVE SPLICING (ISOFORM 4).
[5]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 16-1188 (ISOFORM 3), VARIANTS ALA-665 AND VAL-887. Tissue: Eye and Skin.
[6]	"Large-scale characterization of HeLa cell nuclear phosphoproteins." Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J., Li J., Cohn M.A., Cantley L.C., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004) [PubMed: 15302935] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-967; SER-1111; SER-1228; SER-1376; SER-1378 AND SER-1471, MASS SPECTROMETRY. Tissue: Epithelium.
[7]	"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: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-83; THR-84; SER-85; SER-87; SER-88; SER-164; SER-171; SER-233; SER-446; SER-475; SER-477; SER-478; SER-479; SER-482; SER-484; SER-608; SER-610; SER-611; SER-614; SER-615; SER-617; SER-620; SER-868; SER-870; SER-871; SER-875; SER-877 AND SER-906; SER-932; SER-934; SER-935; SER-936; SER-939; SER-941; SER-996; SER-997; SER-998; SER-999; SER-1001; SER-1257; SER-1350; SER-1378 AND SER-1471, MASS SPECTROMETRY. Tissue: Epithelium.
[8]	"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: 16964243] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-249; SER-1111; SER-1228 AND SER-1378, MASS SPECTROMETRY. Tissue: Epithelium.
[9]	"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: 17924679] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-156; SER-304; THR-310; THR-316; SER-381; SER-446; SER-582; SER-583; SER-906; THR-914 AND SER-1350, MASS SPECTROMETRY. Tissue: Epithelium.
[10]	"Global proteomic profiling of phosphopeptides using electron transfer dissociation tandem mass spectrometry." Molina H., Horn D.M., Tang N., Mathivanan S., Pandey A. Proc. Natl. Acad. Sci. U.S.A. 104:2199-2204(2007) [PubMed: 17287340] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-138; THR-144; SER-153; SER-160; SER-381; THR-394; SER-446; SER-583; SER-764; SER-784; SER-801; THR-805; SER-906; SER-1257; SER-1350; THR-1358; SER-1361; SER-1376 AND SER-1378, MASS SPECTROMETRY.
[11]	"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage." Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J. Science 316:1160-1166(2007) [PubMed: 17525332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1410, MASS SPECTROMETRY.
[12]	"Automated phosphoproteome analysis for cultured cancer cells by two-dimensional nanoLC-MS using a calcined titania/C18 biphasic column." Imami K., Sugiyama N., Kyono Y., Tomita M., Ishihama Y. Anal. Sci. 24:161-166(2008) [PubMed: 18187866] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-153; SER-156; SER-381; SER-582; SER-583; SER-1228 AND SER-1378, MASS SPECTROMETRY.
[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: 18220336] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-906; SER-967 AND THR-983, MASS SPECTROMETRY.
[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: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-906; SER-1350 AND SER-1378, MASS SPECTROMETRY.
[15]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-83; THR-84; SER-85; SER-87; SER-88; SER-153; SER-156; THR-249; 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-906; SER-996; SER-997; SER-998; SER-999; SER-1001; SER-1111; SER-1190; SER-1191; SER-1228; THR-1234; SER-1257; SER-1350; THR-1358; SER-1376; SER-1378; SER-1407 AND SER-1410, MASS SPECTROMETRY.
[16]	"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: 9042910] [Abstract] Cited for: VARIANTS LEU-516; VAL-887; VAL-1390 AND GLY-1432, VARIANT TCS ARG-53.
[17]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E. Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] LYS-1030.
+	Additional computationally mapped references.

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Web resources

GeneReviews

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Cross-references

Sequence databases
	U40847 mRNA. Translation: AAC50903.1. U76366 mRNA. Translation: AAC51181.1. U84664 U84663 Genomic DNA. Translation: AAC51185.1. U79659 U79658 Genomic DNA. Translation: AAB40722.1. AY460334 mRNA. Translation: AAR87774.1. BC011764 mRNA. Translation: AAH11764.1. BC014559 mRNA. Translation: AAH14559.1. BC027252 mRNA. Translation: AAH27252.1. BC033093 mRNA. Translation: AAH33093.1.
IPI	IPI00298696. IPI00555853. IPI00815713. IPI00815731. IPI00815944.
RefSeq	NP_000347.2. NP_001008657.1. NP_001128715.1. NP_001128717.1.
UniGene	Hs.519672 Hs.605019
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q13428. 5 interactions.
PTM databases
PhosphoSite	Q13428.
Proteomic databases
PRIDE	Q13428.
Genome annotation databases
Ensembl	ENSG00000070814. Homo sapiens. [Contig view]
GeneID	6949.
UCSC	uc003lrw.1. human. uc003lry.1. human. uc003lsa.1. human.
Organism-specific databases
GeneCards	GC05P149717.
H-InvDB	HIX0005313.
HGNC	HGNC:11654. TCOF1.
MIM	154500. phenotype. 606847. gene.
Orphanet	861. Treacher-Collins syndrome.
PharmGKB	PA36405.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q13428.
Gene expression databases
ArrayExpress	Q13428.
Bgee	Q13428.
CleanEx	HS_TCOF1.
GermOnline	ENSG00000070814. Homo sapiens.
Family and domain databases
InterPro	IPR006594. LisH_dimerisation. IPR003993. TCS_treacle. IPR017859. TCS_treacle-like. [Graphical view]
Pfam	PF03546. Treacle. 3 hits. [Graphical view]
PRINTS	PR01503. TREACLE.
SMART	SM00667. LisH. 1 hit. [Graphical view]
PROSITE	PS50896. LISH. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	27207.
PMAP-CutDB	Q13428.
SOURCE	Search...

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Entry information

Entry name

TCOF_HUMAN

Accession

Primary (citable) accession number: Q13428
Secondary accession number(s): Q6SC72

Q99860

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	January 9, 2007
Last modified:	July 7, 2009
This is version 86 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Binary interactions

With

Entry

#Exp.

IntAct

Notes

Alternative products

Sequence annotation (Features)

Molecule processing

Regions

Amino acid modifications

Natural variations

Experimental info

Sequences

References

Web resources

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Proteomic databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Gene expression databases

Family and domain databases

Other Resources

Entry information

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