P53804 (TTC3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
E3 ubiquitin-protein ligase TTC3
EC=6.3.2.-

Alternative name(s):
Protein DCRR1
RING finger protein 105
TPR repeat protein D
Tetratricopeptide repeat protein 3
Short name=TPR repeat protein 3

Gene names

Name:	TTC3
Synonyms:	DCRR1, RNF105, TPRD

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	2025 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	E3 ubiquitin-protein ligase that mediates the ubiquitination and subsequent degradation of phosphorylated Akt (AKT1, AKT2 and AKT3) in the nucleus. Acts as a terminal regulator of Akt signaling after activation; its phosphorylation by Akt, which is a prerequisite for ubiquitin ligase activity, suggests the existence of a regulation mechanism required to control Akt levels after activation. Catalyzes the formation of 'Lys-48'-polyubiquitin chains. May play a role in neuronal differentiation inhibition via its interaction with CIT. Ref.9 Ref.10
Pathway	Protein modification; protein ubiquitination.
Subunit structure	Interacts (when phosphorylated on Ser-378) with AKT1, AKT2 and AKT3 (when phosphorylated). Interacts with CIT. Ref.9 Ref.10
Subcellular location	Nucleus Ref.10.
Tissue specificity	Found in all tissues examined.
Post-translational modification	Phosphorylation on Ser-378 by Akt is required for ubiquitin ligase activity.
Sequence similarities	Contains 1 RING-type zinc finger. Contains 4 TPR repeats.
Sequence caution	The sequence AAH63033.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence. The sequence AAH92466.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.

Ontologies

Keywords
Biological process	Ubl conjugation pathway
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat TPR repeat Zinc-finger
Ligand	Metal-binding Zinc
Molecular function	Ligase
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	negative regulation of cell morphogenesis involved in differentiation Inferred from electronic annotation. Source: Compara negative regulation of neuron differentiation Inferred from electronic annotation. Source: Compara protein K48-linked ubiquitination Inferred from direct assay Ref.10. Source: UniProtKB ubiquitin-dependent protein catabolic process Inferred from direct assay Ref.10. Source: UniProtKB
Cellular_component	mitochondrion Inferred from direct assay. Source: HPA nucleus Inferred from direct assay Ref.10. Source: UniProtKB vacuole Inferred from electronic annotation. Source: Compara
Molecular_function	ubiquitin-protein ligase activity Inferred from direct assay Ref.10. Source: UniProtKB zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform TPRDI (identifier: P53804-1)

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.

Isoform TPRDII (identifier: P53804-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-233: Missing.

Isoform TPRDIII (identifier: P53804-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-310: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 2025	2025	E3 ubiquitin-protein ligase TTC3		PRO_0000106378
Regions
	Repeat	231 – 264	34	TPR 1
	Repeat	266 – 298	33	TPR 2
	Repeat	536 – 572	37	TPR 3
	Repeat	576 – 609	34	TPR 4
	Zinc finger	1957 – 1997	41	RING-type
	Compositional bias	453 – 456	4	Poly-Ser
	Compositional bias	1018 – 1029	12	Arg/Lys-rich (basic)
	Compositional bias	1020 – 1029	10	Poly-Lys
	Compositional bias	1172 – 1185	14	Arg/Lys-rich (basic)
	Compositional bias	1563 – 1579	17	Arg/Lys-rich (basic)
	Compositional bias	1899 – 1902	4	Poly-Lys
Amino acid modifications
	Modified residue	378	1	Phosphoserine; by PKB/AKT2 Ref.10
Natural variations
	Alternative sequence	1 – 310	310	Missing in isoform TPRDIII.		VSP_006555
	Alternative sequence	1 – 233	233	Missing in isoform TPRDII.		VSP_006554
	Natural variant	840	1	M → T. Ref.7 Corresponds to variant rs1053808 [ dbSNP | Ensembl ].		VAR_020312
	Natural variant	1063	1	S → T. Corresponds to variant rs1133021 [ dbSNP | Ensembl ].		VAR_044426
	Natural variant	1117	1	F → L. Corresponds to variant rs1133022 [ dbSNP | Ensembl ].		VAR_014491
	Natural variant	1128	1	N → H. Corresponds to variant rs1053833 [ dbSNP | Ensembl ].		VAR_044427
	Natural variant	1154	1	P → S. Corresponds to variant rs1053840 [ dbSNP | Ensembl ].		VAR_044428
	Natural variant	1289	1	K → M in a breast cancer sample; somatic mutation. Ref.11		VAR_035868
	Natural variant	1751	1	D → H. Ref.1 Ref.2 Corresponds to variant rs1053966 [ dbSNP | Ensembl ].		VAR_024676
Experimental info
	Mutagenesis	378	1	S → A: Abolishes phosphorylation by Akt and impairs ubiquitin ligase activity on Akt. Ref.10
	Sequence conflict	9	1	F → Y in AAH92466. Ref.5
	Sequence conflict	121	1	N → D in CAA05057. Ref.8
	Sequence conflict	139	1	K → R in CAA05057. Ref.8
	Sequence conflict	232	1	E → G in CAA05057. Ref.8
	Sequence conflict	276	1	L → P in CAA05057. Ref.8
	Sequence conflict	437	1	K → Q in AAH63033. Ref.5
	Sequence conflict	495	1	Q → P in BAA23666. Ref.7
	Sequence conflict	1700	1	E → V in BAA23666. Ref.7
	Sequence conflict	1822	1	A → T in BAA23666. Ref.7

Sequences

	Sequence		Length	Mass (Da)
	Isoform TPRDI [UniParc]. Last modified November 30, 2010. Version 2. Checksum: C80BC8E1970B6725	FASTA	2,025	229,869
	10 20 30 40 50 60 MDNFAEGDFT VADYALLEDC PHVDDCVFAA EFMSNDYVRV TQLYCDGVGV QYKDYIQSER 70 80 90 100 110 120 NLEFDICSIW CSKPISVLQD YCDAIKINIF WPLLFQHQNS SVISRLHPCV DANNSRASEI 130 140 150 160 170 180 NLKKLQHLEL MEDIVDLAKK VANDSFLIGG LLRIGCKIEN KILAMEEALN WIKYAGDVTI 190 200 210 220 230 240 LTKLGSIDNC WPMLSIFFTE YKYHITKIVM EDCNLLEELK TQSCMDCIEE GELMKMKGNE 250 260 270 280 290 300 EFSKERFDIA IIYYTRAIEY RPENYLLYGN RALCFLRTGQ FRNALGDGKR ATILKNTWPK 310 320 330 340 350 360 GHYRYCDALS MLGEYDWALQ ANIKAQKLCK NDPEGIKDLI QQHVKLQKQI EDLQGRTANK 370 380 390 400 410 420 DPIKAFYENR AYTPRSLSAP IFTTSLNFVE KERDFRKINH EMANGGNQNL KVADEALKVD 430 440 450 460 470 480 DCDCHPEFSP PSSQPPKHKG KQKSRNNESE KFSSSSPLTL PADLKNILEK QFSKSSRAAH 490 500 510 520 530 540 QDFANIMKML RSLIQDGYMA LLEQRCRSAA QAFTELLNGL DPQKIKQLNL AMINYVLVVY 550 560 570 580 590 600 GLAISLLGIG QPEELSEAEN QFKRIIEHYP SEGLDCLAYC GIGKVYLKKN RFLEALNHFE 610 620 630 640 650 660 KARTLIYRLP GVLTWPTSNV IIEESQPQKI KMLLEKFVEE CKFPPVPDAI CCYQKCHGYS 670 680 690 700 710 720 KIQIYITDPD FKGFIRISCC QYCKIEFHMN CWKKLKTTTF NDKIDKDFLQ GICLTPDCEG 730 740 750 760 770 780 VISKIIIFSS GGEVKCEFEH KVIKEKVPPR PILKQKCSSL EKLRLKEDKK LKRKIQKKEA 790 800 810 820 830 840 KKLAQERMEE DLRESNPPKN EEQKETVDNV QRCQFLDDRI LQCIKQYADK IKSGIQNTAM 850 860 870 880 890 900 LLKELLSWKV LSTEDYTTCF SSRNFLNEAV DYVIRHLIQE NNRVKTRIFL HVLSELKEVE 910 920 930 940 950 960 PKLAAWIQKL NSFGLDATGT FFSRYGASLK LLDFSIMTFL WNEKYGHKLD SIEGKQLDYF 970 980 990 1000 1010 1020 SEPASLKEAR CLIWLLEEHR DKFPALHSAL DEFFDIMDSR CTVLRKQDSG EAPFSSTKVK 1030 1040 1050 1060 1070 1080 NKSKKKKPKD SKPMLVGSGT TSVTSNNEII TSSEDHSNRN SDSAGPFAVP DHLRQDVEEF 1090 1100 1110 1120 1130 1140 EALYDQHSNE YVVRNKKLWD MNPKQKCSTL YDYFSQFLEE HGPLDMSNKM FSAEYEFFPE 1150 1160 1170 1180 1190 1200 ETRQILEKAG GLKPFLLGCP RFVVIDNCIA LKKVASRLKK KRKKKNIKTK VEEISKAGEY 1210 1220 1230 1240 1250 1260 VRVKLQLNPA AREFKPDVKS KPVSDSSSAP AFENVKPKPV SANSPKPACE DVKAKPVSDN 1270 1280 1290 1300 1310 1320 SSRQVSEDGQ PKGVSSNSPK PGSEDANYKR VSCNSPKPVL EDVKPTYWAQ SHLVTGYCTY 1330 1340 1350 1360 1370 1380 LPFQRFDITQ TPPAYINVLP GLPQYTSIYT PLASLSPEYQ LPRSVPVVPS FVANDRADKN 1390 1400 1410 1420 1430 1440 AAAYFEGHHL NAENVAGHQI ASETQILEGS LGISVKSHCS TGDAHTVLSE SNRNDEHCGN 1450 1460 1470 1480 1490 1500 SNNKCEVIPE STSAVTNIPH VQMVAIQVSW NIIHQEVNTE PYNPFEERQG EISRIEKEHQ 1510 1520 1530 1540 1550 1560 VLQDQLQEVY ENYEQIKLKG LEETRDLEEK LKRHLEENKI SKTELDWFLQ DLEREIKKWQ 1570 1580 1590 1600 1610 1620 QEKKEIQERL KSLKKKIKKV SNASEMYTQK NDGKEKEHEL HLDQSLEISN TLTNEKMKIE 1630 1640 1650 1660 1670 1680 EYIKKGKEDY EESHQRAVAA EVSVLENWKE SEVYKLQIME SQAEAFLKKL GLISRDPAAY 1690 1700 1710 1720 1730 1740 PDMESDIRSW ELFLSNVTKE IEKAKSQFEE QIKAIKNGSR LSELSKVQIS ELSFPACNTV 1750 1760 1770 1780 1790 1800 HPELLPESSG DDGQGLVTSA SDVTGNHAAL HRDPSVFSAG DSPGEAPSAL LPGPPPGQPE 1810 1820 1830 1840 1850 1860 ATQLTGPKRA GQAALSERSP VADRKQPVPP GRAARSSQSP KKPFNSIIEH LSVVFPCYNS 1870 1880 1890 1900 1910 1920 TELAGFIKKV RSKNKNSLSG LSIDEIVQRV TEHILDEQKK KKPNPGKDKR TYEPSSATPV 1930 1940 1950 1960 1970 1980 TRSSQGSPSV VVAPSPKTKG QKAEDVPVRI ALGASSCEIC HEVFKSKNVR VLKCGHKYHK 1990 2000 2010 2020 GCFKQWLKGQ SACPACQGRD LLTEESPSGR GWPSQNQELP SCSSR
	Isoform TPRDII [UniParc]. Checksum: CCF6AE90171F496F	FASTA	1,792	203,189
	10 20 30 40 50 60 MKMKGNEEFS KERFDIAIIY YTRAIEYRPE NYLLYGNRAL CFLRTGQFRN ALGDGKRATI 70 80 90 100 110 120 LKNTWPKGHY RYCDALSMLG EYDWALQANI KAQKLCKNDP EGIKDLIQQH VKLQKQIEDL 130 140 150 160 170 180 QGRTANKDPI KAFYENRAYT PRSLSAPIFT TSLNFVEKER DFRKINHEMA NGGNQNLKVA 190 200 210 220 230 240 DEALKVDDCD CHPEFSPPSS QPPKHKGKQK SRNNESEKFS SSSPLTLPAD LKNILEKQFS 250 260 270 280 290 300 KSSRAAHQDF ANIMKMLRSL IQDGYMALLE QRCRSAAQAF TELLNGLDPQ KIKQLNLAMI 310 320 330 340 350 360 NYVLVVYGLA ISLLGIGQPE ELSEAENQFK RIIEHYPSEG LDCLAYCGIG KVYLKKNRFL 370 380 390 400 410 420 EALNHFEKAR TLIYRLPGVL TWPTSNVIIE ESQPQKIKML LEKFVEECKF PPVPDAICCY 430 440 450 460 470 480 QKCHGYSKIQ IYITDPDFKG FIRISCCQYC KIEFHMNCWK KLKTTTFNDK IDKDFLQGIC 490 500 510 520 530 540 LTPDCEGVIS KIIIFSSGGE VKCEFEHKVI KEKVPPRPIL KQKCSSLEKL RLKEDKKLKR 550 560 570 580 590 600 KIQKKEAKKL AQERMEEDLR ESNPPKNEEQ KETVDNVQRC QFLDDRILQC IKQYADKIKS 610 620 630 640 650 660 GIQNTAMLLK ELLSWKVLST EDYTTCFSSR NFLNEAVDYV IRHLIQENNR VKTRIFLHVL 670 680 690 700 710 720 SELKEVEPKL AAWIQKLNSF GLDATGTFFS RYGASLKLLD FSIMTFLWNE KYGHKLDSIE 730 740 750 760 770 780 GKQLDYFSEP ASLKEARCLI WLLEEHRDKF PALHSALDEF FDIMDSRCTV LRKQDSGEAP 790 800 810 820 830 840 FSSTKVKNKS KKKKPKDSKP MLVGSGTTSV TSNNEIITSS EDHSNRNSDS AGPFAVPDHL 850 860 870 880 890 900 RQDVEEFEAL YDQHSNEYVV RNKKLWDMNP KQKCSTLYDY FSQFLEEHGP LDMSNKMFSA 910 920 930 940 950 960 EYEFFPEETR QILEKAGGLK PFLLGCPRFV VIDNCIALKK VASRLKKKRK KKNIKTKVEE 970 980 990 1000 1010 1020 ISKAGEYVRV KLQLNPAARE FKPDVKSKPV SDSSSAPAFE NVKPKPVSAN SPKPACEDVK 1030 1040 1050 1060 1070 1080 AKPVSDNSSR QVSEDGQPKG VSSNSPKPGS EDANYKRVSC NSPKPVLEDV KPTYWAQSHL 1090 1100 1110 1120 1130 1140 VTGYCTYLPF QRFDITQTPP AYINVLPGLP QYTSIYTPLA SLSPEYQLPR SVPVVPSFVA 1150 1160 1170 1180 1190 1200 NDRADKNAAA YFEGHHLNAE NVAGHQIASE TQILEGSLGI SVKSHCSTGD AHTVLSESNR 1210 1220 1230 1240 1250 1260 NDEHCGNSNN KCEVIPESTS AVTNIPHVQM VAIQVSWNII HQEVNTEPYN PFEERQGEIS 1270 1280 1290 1300 1310 1320 RIEKEHQVLQ DQLQEVYENY EQIKLKGLEE TRDLEEKLKR HLEENKISKT ELDWFLQDLE 1330 1340 1350 1360 1370 1380 REIKKWQQEK KEIQERLKSL KKKIKKVSNA SEMYTQKNDG KEKEHELHLD QSLEISNTLT 1390 1400 1410 1420 1430 1440 NEKMKIEEYI KKGKEDYEES HQRAVAAEVS VLENWKESEV YKLQIMESQA EAFLKKLGLI 1450 1460 1470 1480 1490 1500 SRDPAAYPDM ESDIRSWELF LSNVTKEIEK AKSQFEEQIK AIKNGSRLSE LSKVQISELS 1510 1520 1530 1540 1550 1560 FPACNTVHPE LLPESSGDDG QGLVTSASDV TGNHAALHRD PSVFSAGDSP GEAPSALLPG 1570 1580 1590 1600 1610 1620 PPPGQPEATQ LTGPKRAGQA ALSERSPVAD RKQPVPPGRA ARSSQSPKKP FNSIIEHLSV 1630 1640 1650 1660 1670 1680 VFPCYNSTEL AGFIKKVRSK NKNSLSGLSI DEIVQRVTEH ILDEQKKKKP NPGKDKRTYE 1690 1700 1710 1720 1730 1740 PSSATPVTRS SQGSPSVVVA PSPKTKGQKA EDVPVRIALG ASSCEICHEV FKSKNVRVLK 1750 1760 1770 1780 1790 CGHKYHKGCF KQWLKGQSAC PACQGRDLLT EESPSGRGWP SQNQELPSCS SR
	Isoform TPRDIII [UniParc]. Checksum: 443B4C9A7FD955B2	FASTA	1,715	194,059
	10 20 30 40 50 60 MLGEYDWALQ ANIKAQKLCK NDPEGIKDLI QQHVKLQKQI EDLQGRTANK DPIKAFYENR 70 80 90 100 110 120 AYTPRSLSAP IFTTSLNFVE KERDFRKINH EMANGGNQNL KVADEALKVD DCDCHPEFSP 130 140 150 160 170 180 PSSQPPKHKG KQKSRNNESE KFSSSSPLTL PADLKNILEK QFSKSSRAAH QDFANIMKML 190 200 210 220 230 240 RSLIQDGYMA LLEQRCRSAA QAFTELLNGL DPQKIKQLNL AMINYVLVVY GLAISLLGIG 250 260 270 280 290 300 QPEELSEAEN QFKRIIEHYP SEGLDCLAYC GIGKVYLKKN RFLEALNHFE KARTLIYRLP 310 320 330 340 350 360 GVLTWPTSNV IIEESQPQKI KMLLEKFVEE CKFPPVPDAI CCYQKCHGYS KIQIYITDPD 370 380 390 400 410 420 FKGFIRISCC QYCKIEFHMN CWKKLKTTTF NDKIDKDFLQ GICLTPDCEG VISKIIIFSS 430 440 450 460 470 480 GGEVKCEFEH KVIKEKVPPR PILKQKCSSL EKLRLKEDKK LKRKIQKKEA KKLAQERMEE 490 500 510 520 530 540 DLRESNPPKN EEQKETVDNV QRCQFLDDRI LQCIKQYADK IKSGIQNTAM LLKELLSWKV 550 560 570 580 590 600 LSTEDYTTCF SSRNFLNEAV DYVIRHLIQE NNRVKTRIFL HVLSELKEVE PKLAAWIQKL 610 620 630 640 650 660 NSFGLDATGT FFSRYGASLK LLDFSIMTFL WNEKYGHKLD SIEGKQLDYF SEPASLKEAR 670 680 690 700 710 720 CLIWLLEEHR DKFPALHSAL DEFFDIMDSR CTVLRKQDSG EAPFSSTKVK NKSKKKKPKD 730 740 750 760 770 780 SKPMLVGSGT TSVTSNNEII TSSEDHSNRN SDSAGPFAVP DHLRQDVEEF EALYDQHSNE 790 800 810 820 830 840 YVVRNKKLWD MNPKQKCSTL YDYFSQFLEE HGPLDMSNKM FSAEYEFFPE ETRQILEKAG 850 860 870 880 890 900 GLKPFLLGCP RFVVIDNCIA LKKVASRLKK KRKKKNIKTK VEEISKAGEY VRVKLQLNPA 910 920 930 940 950 960 AREFKPDVKS KPVSDSSSAP AFENVKPKPV SANSPKPACE DVKAKPVSDN SSRQVSEDGQ 970 980 990 1000 1010 1020 PKGVSSNSPK PGSEDANYKR VSCNSPKPVL EDVKPTYWAQ SHLVTGYCTY LPFQRFDITQ 1030 1040 1050 1060 1070 1080 TPPAYINVLP GLPQYTSIYT PLASLSPEYQ LPRSVPVVPS FVANDRADKN AAAYFEGHHL 1090 1100 1110 1120 1130 1140 NAENVAGHQI ASETQILEGS LGISVKSHCS TGDAHTVLSE SNRNDEHCGN SNNKCEVIPE 1150 1160 1170 1180 1190 1200 STSAVTNIPH VQMVAIQVSW NIIHQEVNTE PYNPFEERQG EISRIEKEHQ VLQDQLQEVY 1210 1220 1230 1240 1250 1260 ENYEQIKLKG LEETRDLEEK LKRHLEENKI SKTELDWFLQ DLEREIKKWQ QEKKEIQERL 1270 1280 1290 1300 1310 1320 KSLKKKIKKV SNASEMYTQK NDGKEKEHEL HLDQSLEISN TLTNEKMKIE EYIKKGKEDY 1330 1340 1350 1360 1370 1380 EESHQRAVAA EVSVLENWKE SEVYKLQIME SQAEAFLKKL GLISRDPAAY PDMESDIRSW 1390 1400 1410 1420 1430 1440 ELFLSNVTKE IEKAKSQFEE QIKAIKNGSR LSELSKVQIS ELSFPACNTV HPELLPESSG 1450 1460 1470 1480 1490 1500 DDGQGLVTSA SDVTGNHAAL HRDPSVFSAG DSPGEAPSAL LPGPPPGQPE ATQLTGPKRA 1510 1520 1530 1540 1550 1560 GQAALSERSP VADRKQPVPP GRAARSSQSP KKPFNSIIEH LSVVFPCYNS TELAGFIKKV 1570 1580 1590 1600 1610 1620 RSKNKNSLSG LSIDEIVQRV TEHILDEQKK KKPNPGKDKR TYEPSSATPV TRSSQGSPSV 1630 1640 1650 1660 1670 1680 VVAPSPKTKG QKAEDVPVRI ALGASSCEIC HEVFKSKNVR VLKCGHKYHK GCFKQWLKGQ 1690 1700 1710 SACPACQGRD LLTEESPSGR GWPSQNQELP SCSSR

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of a novel human gene containing the tetratricopeptide repeat domain from the Down syndrome region of chromosome 21." Ohira M., Ootsuyama A., Suzuki E., Ichikawa H., Seki N., Nagase T., Nomura N., Ohki M. DNA Res. 3:9-16(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM TPRDI), VARIANT HIS-1751. Tissue: Brain.
[2]	"Identification and cloning of a novel cDNA belonging to tetratricopeptide repeat gene family from Down syndrome-critical region 21q22.2." Tsukahara F., Hattori M., Muraki T., Sakaki Y. J. Biochem. 120:820-827(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS TPRDI; TPRDII AND TPRDIII), VARIANT HIS-1751. Tissue: Fetal brain and Placenta.
[3]	"The DNA sequence of human chromosome 21." Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A. , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L. Nature 405:311-319(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM TPRDI). Tissue: Testis.
[6]	"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 1-627 (ISOFORM TPRDI). Tissue: Small intestine.
[7]	"Cloning and characterization of novel gene, DCRR1, expressed from Down's syndrome critical region of human chromosome 21q22.2." Eki T., Abe M., Naitou M., Sasanuma S.I., Nohata J., Kawashima K., Ahmad I., Hanaoka F., Murakami Y. DNA Seq. 7:153-164(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 85-2025 (ISOFORM TPRDI), VARIANT THR-840.
[8]	"Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome." Dahmane N., Ait-Ghezala G., Gosset P., Chamoun Z., Dufresne-Zacharia M.-C., Lopes C., Rabatel N., Gassanova-Maugenre S., Chettouh Z., Abramowski V., Fayet E., Yaspo M.-L., Korn B., Blouin J.-L., Lehrach H., Poustka A., Antonarakis S.E., Sinet P.-M., Creau N., Delabar J.-M. Genomics 48:12-23(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 121-616 (ISOFORM TPRDI). Tissue: Fetal brain.
[9]	"The Down syndrome critical region protein TTC3 inhibits neuronal differentiation via RhoA and Citron kinase." Berto G., Camera P., Fusco C., Imarisio S., Ambrogio C., Chiarle R., Silengo L., Di Cunto F. J. Cell Sci. 120:1859-1867(2007) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INTERACTION WITH CIT.
[10]	"The E3 ligase TTC3 facilitates ubiquitination and degradation of phosphorylated Akt." Suizu F., Hiramuki Y., Okumura F., Matsuda M., Okumura A.J., Hirata N., Narita M., Kohno T., Yokota J., Bohgaki M., Obuse C., Hatakeyama S., Obata T., Noguchi M. Dev. Cell 17:800-810(2009) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH AKT1; AKT2 AND AKT3, PHOSPHORYLATION AT SER-378, MUTAGENESIS OF SER-378.
[11]	"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] MET-1289.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	D83077 mRNA. Translation: BAA11769.1. D84294 mRNA. Translation: BAA12301.1. D84295 mRNA. Translation: BAA12302.1. D84296 mRNA. Translation: BAA12303.1. AP001429 Genomic DNA. No translation available. AP001432 Genomic DNA. No translation available. CH471079 Genomic DNA. Translation: EAX09716.1. CH471079 Genomic DNA. Translation: EAX09717.1. CH471079 Genomic DNA. Translation: EAX09718.1. CH471079 Genomic DNA. Translation: EAX09719.1. CH471079 Genomic DNA. Translation: EAX09720.1. CH471079 Genomic DNA. Translation: EAX09721.1. CH471079 Genomic DNA. Translation: EAX09722.1. CH471079 Genomic DNA. Translation: EAX09723.1. BC063033 mRNA. Translation: AAH63033.1. Sequence problems. BC092466 mRNA. Translation: AAH92466.1. Sequence problems. BC137345 mRNA. Translation: AAI37346.1. AK291992 mRNA. Translation: BAF84681.1. D83327 mRNA. Translation: BAA23666.1. AJ001866 mRNA. Translation: CAA05057.1.
IPI	IPI00023977. IPI00215848. IPI00215849.
PIR	JC5020.
RefSeq	NP_001001894.1. NM_001001894.1. NP_003307.3. NM_003316.3.
UniGene	Hs.368214.
3D structure databases
ProteinModelPortal	P53804.
ModBase	Search...
Protein-protein interaction databases
IntAct	P53804. 6 interactions.
MINT	MINT-1181179.
PTM databases
PhosphoSite	P53804.
Polymorphism databases
DMDM	1730008.
Proteomic databases
PaxDb	P53804.
PRIDE	P53804.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000354749; ENSP00000346791; ENSG00000182670. ENST00000355666; ENSP00000347889; ENSG00000182670. ENST00000399017; ENSP00000381981; ENSG00000182670.
GeneID	7267.
KEGG	hsa:7267.
UCSC	uc002yvz.3. human.
Organism-specific databases
CTD	7267.
GeneCards	GC21P038445.
H-InvDB	HIX0027791. HIX0041033. HIX0148527.
HGNC	HGNC:12393. TTC3.
HPA	HPA016810. HPA023964.
MIM	602259. gene.
neXtProt	NX_P53804.
PharmGKB	PA37058.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG248683.
HOVERGEN	HBG007494.
InParanoid	P53804.
KO	K15712.
OMA	DCEGIIS.
Enzyme and pathway databases
UniPathway	UPA00143.
Gene expression databases
ArrayExpress	P53804.
Bgee	P53804.
CleanEx	HS_TTC3.
Genevestigator	P53804.
GermOnline	ENSG00000182670. Homo sapiens.
Family and domain databases
Gene3D	1.25.40.10. 3 hits. 3.30.40.10. 1 hit.
InterPro	IPR001440. TPR-1. IPR013026. TPR-contain_dom. IPR011990. TPR-like_helical. IPR019734. TPR_repeat. IPR001841. Znf_RING. IPR013083. Znf_RING/FYVE/PHD. [Graphical view]
Pfam	PF00515. TPR_1. 1 hit. PF13639. zf-RING_2. 1 hit. [Graphical view]
SMART	SM00184. RING. 1 hit. SM00028. TPR. 3 hits. [Graphical view]
PROSITE	PS50005. TPR. 2 hits. PS50293. TPR_REGION. 2 hits. PS00518. ZF_RING_1. False negative. PS50089. ZF_RING_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	TTC3. human.
GenomeRNAi	7267.
NextBio	28411.
SOURCE	Search...

Entry information

Entry name

TTC3_HUMAN

Accession

Primary (citable) accession number: P53804
Secondary accession number(s): A8K7H7 , B2RPA7, D3DSG9, D3DSH2, D3DSH3, O60767, P78476, P78477, Q569I2, Q6P578, Q9UEK4

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	November 30, 2010
Last modified:	April 3, 2013
This is version 125 of the entry and version 2 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.