Q13428 (TCOF_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Treacle protein

Alternative name(s):
Treacher Collins syndrome protein

Gene names

Name:

TCOF1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1488 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

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. May participate in certain stages of ribosome biogenesis. Ref.8
Subunit structure	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. Ref.8
Subcellular location	Nucleus › nucleolus Ref.8.
Involvement in disease	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. Ref.22
Sequence similarities	Contains 1 LisH domain.
Sequence caution	The sequence AAH16144.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.

Ontologies

Keywords
Biological process	Transport
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation
PTM	Acetylation Phosphoprotein
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	skeletal system development Traceable author statement Ref.3. Source: ProtInc transcription of nuclear large rRNA transcript from RNA polymerase I promoter Inferred from electronic annotation. Source: Compara
Cellular_component	cytoplasm Inferred from direct assay. Source: HPA nucleolus Inferred from direct assay. Source: HPA
Molecular_function	transporter activity Traceable author statement Ref.3. Source: ProtInc
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
ARRB1	P49407	3	EBI-396105,EBI-743313
ARRB2	P32121	3	EBI-396105,EBI-714559

Alternative products

This entry describes 8 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.

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.

Isoform 6 (identifier: Q13428-6)

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

Isoform 7 (identifier: Q13428-7)

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

Isoform 8 (identifier: Q13428-8)

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

Note: No experimental confirmation available.

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.15
	Modified residue	84	1	Phosphothreonine Ref.15
	Modified residue	85	1	Phosphoserine Ref.15
	Modified residue	87	1	Phosphoserine Ref.15
	Modified residue	88	1	Phosphoserine Ref.15
	Modified residue	153	1	Phosphoserine Ref.15
	Modified residue	155	1	N6-acetyllysine Ref.18
	Modified residue	156	1	Phosphoserine Ref.15 Ref.17 Ref.19 Ref.21
	Modified residue	171	1	Phosphoserine By similarity
	Modified residue	173	1	Phosphothreonine By similarity
	Modified residue	233	1	Phosphoserine Ref.19 Ref.21
	Modified residue	249	1	Phosphothreonine Ref.10 Ref.17 Ref.19
	Modified residue	296	1	N6-acetyllysine Ref.18
	Modified residue	310	1	Phosphothreonine Ref.15 Ref.19
	Modified residue	316	1	Phosphothreonine 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.11 Ref.15 Ref.17 Ref.19 Ref.21
	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.9 Ref.11 Ref.19 Ref.21
	Modified residue	503	1	Phosphoserine Ref.15 Ref.19 Ref.21
	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	583	1	Phosphoserine Ref.15 Ref.17 Ref.19 Ref.21
	Modified residue	600	1	N6-acetyllysine Ref.18
	Modified residue	608	1	Phosphoserine By similarity
	Modified residue	610	1	Phosphoserine By similarity
	Modified residue	611	1	Phosphoserine By similarity
	Modified residue	614	1	Phosphoserine By similarity
	Modified residue	615	1	Phosphoserine By similarity
	Modified residue	620	1	Phosphoserine Ref.9
	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	755	1	N6-acetyllysine Ref.18
	Modified residue	762	1	Phosphoserine Ref.15
	Modified residue	764	1	Phosphoserine 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	868	1	Phosphoserine Ref.15 Ref.19
	Modified residue	870	1	Phosphoserine Ref.15 Ref.19
	Modified residue	871	1	Phosphoserine Ref.15 Ref.19
	Modified residue	875	1	Phosphoserine Ref.15 Ref.19
	Modified residue	877	1	Phosphoserine Ref.15 Ref.19
	Modified residue	906	1	Phosphoserine Ref.9 Ref.11 Ref.13 Ref.14 Ref.19 Ref.21
	Modified residue	914	1	Phosphothreonine Ref.11 Ref.19
	Modified residue	967	1	Phosphoserine Ref.13 Ref.21
	Modified residue	983	1	Phosphothreonine Ref.17
	Modified residue	998	1	Phosphoserine Ref.15
	Modified residue	1111	1	Phosphoserine Ref.10 Ref.15 Ref.17
	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	1228	1	Phosphoserine Ref.10 Ref.15 Ref.17 Ref.21
	Modified residue	1234	1	Phosphothreonine Ref.15
	Modified residue	1257	1	Phosphoserine Ref.9 Ref.15 Ref.19 Ref.21
	Modified residue	1350	1	Phosphoserine Ref.9 Ref.14 Ref.19 Ref.21
	Modified residue	1376	1	Phosphoserine Ref.15 Ref.17 Ref.21
	Modified residue	1378	1	Phosphoserine Ref.10 Ref.15 Ref.17 Ref.19 Ref.21
	Modified residue	1407	1	Phosphoserine Ref.15
	Modified residue	1410	1	Phosphoserine Ref.15 Ref.19
	Modified residue	1414	1	N6-acetyllysine Ref.18
Natural variations
	Alternative sequence	214 – 290	77	Missing in isoform 2 and isoform 8.		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	1062 – 1099	38	Missing in isoform 6 and isoform 7.		VSP_040382
	Alternative sequence	1172	1	L → LV in isoform 3, isoform 7 and isoform 8.		VSP_022297
	Natural variant	53	1	W → R in TCS1. Ref.22		VAR_005630
	Natural variant	221	1	A → P. Corresponds to variant rs11541811 [ dbSNP | Ensembl ].		VAR_057002
	Natural variant	516	1	P → L. Ref.22		VAR_005631
	Natural variant	665	1	A → P. Ref.1 Ref.2 Ref.3 Ref.4 Corresponds to variant rs2071240 [ dbSNP | Ensembl ].		VAR_029869
	Natural variant	887	1	V → A. Ref.1 Ref.2 Ref.3 Ref.4 Ref.7 Ref.22 Corresponds to variant rs7713638 [ dbSNP | Ensembl ].		VAR_005632
	Natural variant	1030	1	R → K in a colorectal cancer sample; somatic mutation. Ref.23		VAR_035666
	Natural variant	1176	1	P → R. Corresponds to variant rs1136103 [ dbSNP | Ensembl ].		VAR_059729
	Natural variant	1280	1	G → R. Corresponds to variant rs11541812 [ dbSNP | Ensembl ].		VAR_059730
	Natural variant	1390	1	A → V. Ref.22 Corresponds to variant rs15251 [ dbSNP | Ensembl ].		VAR_005633
	Natural variant	1431	1	G → A. Corresponds to variant rs45491898 [ dbSNP | Ensembl ].		VAR_061709
	Natural variant	1432	1	D → G. Ref.22		VAR_005634
Experimental info
	Sequence conflict	1271	1	P → L in BAG64623. Ref.7
	Sequence conflict	1389	1	K → Q in AAB40722. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified August 10, 2010. Version 3. Checksum: 6348306D0479790B	FASTA	1,488	152,106
	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 VGTQAPRKAG 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 AETLAQVKPS 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
	Isoform 2 [UniParc]. Checksum: 54E198A54B9062B2	FASTA	1,411	144,314
	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 PVRVGTQAPR 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 EEEAETLAQV 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 SAHTLGPTPS RTETLVEETA AESSEDDVVA PSQSLLSGYM TPGLTPANSQ 1150 1160 1170 1180 1190 1200 ASKATPKLDS SPSVSSTLAA KDDPDGKQEA KPQQAAGMLS PKTGGKEAAS GTTPQKSRKP 1210 1220 1230 1240 1250 1260 KKGAGNPQAS TLALQSNITQ CLLGQPWPLN EAQVQASVVK VLTELLEQER KKVVDTTKES 1270 1280 1290 1300 1310 1320 SRKGWESRKR KLSGDQPAAR TPRSKKKKKL GAGEGGEASV SPEKTSTTSK GKAKRDKASG 1330 1340 1350 1360 1370 1380 DVKEKKGKGS LGSQGAKDEP EEELQKGMGT VEGGDQSNPK SKKEKKKSDK RKKDKEKKEK 1390 1400 1410 KKKAKKASTK DSESPSQKKK KKKKKTAEQT V
	Isoform 3 [UniParc]. Checksum: E24970345707B2CC	FASTA	1,489	152,205
	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 VGTQAPRKAG 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 AETLAQVKPS 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
	Isoform 4 [UniParc]. Checksum: B9CB0B8858C31E3F	FASTA	1,524	155,929
	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 VGTQAPRKAG 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 AETLAQVKPS 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
	Isoform 5 [UniParc]. Checksum: 1F041264A162451C	FASTA	958	96,757
	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 VGTQAPRKAG 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 AETLAQVKPS GKTHQIRAAL 910 920 930 940 950 APAKESPRKG AAPTPPGKTG PSAAQAGKQD DSGSSSEESD SDGEAPAAVT SAQDQESS
	Isoform 6 [UniParc]. Checksum: 99FE142AD43AD2A5	FASTA	1,450	148,254
	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 VGTQAPRKAG 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 AETLAQVKPS 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 QVDSAVGTLP ATSPQSTSVQ 1090 1100 1110 1120 1130 1140 AKGTNKLRKP KLPEVQQATK APESSDDSED SSDSSSGSEE DGEGPQGAKS AHTLGPTPSR 1150 1160 1170 1180 1190 1200 TETLVEETAA ESSEDDVVAP SQSLLSGYMT PGLTPANSQA SKATPKLDSS PSVSSTLAAK 1210 1220 1230 1240 1250 1260 DDPDGKQEAK PQQAAGMLSP KTGGKEAASG TTPQKSRKPK KGAGNPQAST LALQSNITQC 1270 1280 1290 1300 1310 1320 LLGQPWPLNE AQVQASVVKV LTELLEQERK KVVDTTKESS RKGWESRKRK LSGDQPAART 1330 1340 1350 1360 1370 1380 PRSKKKKKLG AGEGGEASVS PEKTSTTSKG KAKRDKASGD VKEKKGKGSL GSQGAKDEPE 1390 1400 1410 1420 1430 1440 EELQKGMGTV EGGDQSNPKS KKEKKKSDKR KKDKEKKEKK KKAKKASTKD SESPSQKKKK 1450 KKKKTAEQTV
	Isoform 7 [UniParc]. Checksum: 0493C61010D7F167	FASTA	1,451	148,353
	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 VGTQAPRKAG 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 AETLAQVKPS 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 QVDSAVGTLP ATSPQSTSVQ 1090 1100 1110 1120 1130 1140 AKGTNKLRKP KLPEVQQATK APESSDDSED SSDSSSGSEE DGEGPQGAKS AHTLVGPTPS 1150 1160 1170 1180 1190 1200 RTETLVEETA AESSEDDVVA PSQSLLSGYM TPGLTPANSQ ASKATPKLDS SPSVSSTLAA 1210 1220 1230 1240 1250 1260 KDDPDGKQEA KPQQAAGMLS PKTGGKEAAS GTTPQKSRKP KKGAGNPQAS TLALQSNITQ 1270 1280 1290 1300 1310 1320 CLLGQPWPLN EAQVQASVVK VLTELLEQER KKVVDTTKES SRKGWESRKR KLSGDQPAAR 1330 1340 1350 1360 1370 1380 TPRSKKKKKL GAGEGGEASV SPEKTSTTSK GKAKRDKASG DVKEKKGKGS LGSQGAKDEP 1390 1400 1410 1420 1430 1440 EEELQKGMGT VEGGDQSNPK SKKEKKKSDK RKKDKEKKEK KKKAKKASTK DSESPSQKKK 1450 KKKKKTAEQT V
	Isoform 8 [UniParc]. Checksum: 1B4ED99C9F485BD7	FASTA	1,412	144,414
	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 PVRVGTQAPR 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 EEEAETLAQV 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

References

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[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, 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, MASS SPECTROMETRY. 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, MASS SPECTROMETRY. 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, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[12]	"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] [Europe PMC] [Abstract] 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, MASS SPECTROMETRY. 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, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[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] [Europe PMC] [Abstract] 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, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[16]	"Large-scale proteomics analysis of the human kinome." Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H. Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[17]	"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, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[18]	"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, MASS SPECTROMETRY.
[19]	"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, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[20]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[21]	"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, MASS SPECTROMETRY.
[22]	"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.
[23]	"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. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] LYS-1030.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00165041. IPI00298696. IPI00555853. IPI00815713. IPI00815731. IPI00815944. IPI00914061. IPI00969501.
RefSeq	NP_000347.2. NM_000356.3. NP_001008657.1. NM_001008657.2. NP_001128715.1. NM_001135243.1. NP_001128716.1. NM_001135244.1. NP_001128717.1. NM_001135245.1. NP_001182070.1. NM_001195141.1.
UniGene	Hs.519672. Hs.605019.
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q13428. 14 interactions.
STRING	9606.ENSP00000406888.
PTM databases
PhosphoSite	Q13428.
Polymorphism databases
DMDM	302393806.
Proteomic databases
PaxDb	Q13428.
PRIDE	Q13428.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000323668; ENSP00000325223; ENSG00000070814. ENST00000377797; ENSP00000367028; ENSG00000070814. ENST00000394269; ENSP00000377811; ENSG00000070814. ENST00000439160; ENSP00000406888; ENSG00000070814. ENST00000445265; ENSP00000409944; ENSG00000070814. ENST00000504761; ENSP00000421655; ENSG00000070814.
GeneID	6949.
KEGG	hsa:6949.
UCSC	uc003lrw.3. human. uc003lrx.3. human. uc003lry.3. human. uc003lrz.3. human. uc003lsa.3. human. uc011dch.2. human.
Organism-specific databases
CTD	6949.
GeneCards	GC05P149717.
H-InvDB	HIX0005313.
HGNC	HGNC:11654. TCOF1.
HPA	CAB033199. HPA038237. HPA038238.
MIM	154500. phenotype. 606847. gene.
neXtProt	NX_Q13428.
Orphanet	861. Treacher-Collins syndrome.
PharmGKB	PA36405.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG12793.
HOVERGEN	HBG006664.
InParanoid	Q13428.
KO	K14562.
Gene expression databases
ArrayExpress	Q13428.
Bgee	Q13428.
CleanEx	HS_TCOF1.
Genevestigator	Q13428.
GermOnline	ENSG00000070814. Homo sapiens.
Family and domain databases
InterPro	IPR006594. LisH_dimerisation. IPR003993. TCS_treacle. IPR017859. Treacle-like_TCS. [Graphical view]
Pfam	PF03546. Treacle. 6 hits. [Graphical view]
PRINTS	PR01503. TREACLE.
SMART	SM00667. LisH. 1 hit. [Graphical view]
PROSITE	PS50896. LISH. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	TCOF1. human.
GenomeRNAi	6949.
NextBio	27207.
PMAP-CutDB	Q13428.
SOURCE	Search...

Entry information

Entry name

TCOF_HUMAN

Accession

Primary (citable) accession number: Q13428
Secondary accession number(s): A0JLU0 , B4E111, Q6SC72, Q7Z5W9, Q96A52, Q99408, Q99860

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	August 10, 2010
Last modified:	May 1, 2013
This is version 121 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.