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Protein

Transducin beta-like protein 3

Gene

TBL3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  • poly(A) RNA binding Source: UniProtKB
  • snoRNA binding Source: GO_Central

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

ReactomeiR-HSA-6790901. rRNA modification in the nucleus.
R-HSA-6791226. Major pathway of rRNA processing in the nucleolus.
SignaLinkiQ12788.

Names & Taxonomyi

Protein namesi
Recommended name:
Transducin beta-like protein 3
Alternative name(s):
WD repeat-containing protein SAZD
Gene namesi
Name:TBL3
Synonyms:SAZD
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:11587. TBL3.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA36351.

Polymorphism and mutation databases

BioMutaiTBL3.
DMDMi223634675.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methionineiRemovedCombined sources
Chaini2 – 808807Transducin beta-like protein 3PRO_0000051272Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanineCombined sources

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ12788.
MaxQBiQ12788.
PaxDbiQ12788.
PRIDEiQ12788.

2D gel databases

SWISS-2DPAGEQ12788.

PTM databases

iPTMnetiQ12788.
PhosphoSiteiQ12788.
SwissPalmiQ12788.

Expressioni

Gene expression databases

BgeeiQ12788.
CleanExiHS_TBL3.
ExpressionAtlasiQ12788. baseline and differential.
GenevisibleiQ12788. HS.

Organism-specific databases

HPAiHPA042562.
HPA055695.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
APPBP2Q926244EBI-715766,EBI-743771
DHX30Q7L2E35EBI-715766,EBI-1211456
NR2E3Q9Y5X42EBI-715766,EBI-7216962
RBBP7Q165762EBI-715766,EBI-352227

Protein-protein interaction databases

BioGridi115853. 55 interactions.
IntActiQ12788. 24 interactions.
MINTiMINT-1427903.
STRINGi9606.ENSP00000454836.

Structurei

3D structure databases

ProteinModelPortaliQ12788.
SMRiQ12788. Positions 33-638.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati64 – 10542WD 1Add
BLAST
Repeati107 – 14640WD 2Add
BLAST
Repeati149 – 19042WD 3Add
BLAST
Repeati193 – 23240WD 4Add
BLAST
Repeati245 – 28440WD 5Add
BLAST
Repeati290 – 32940WD 6Add
BLAST
Repeati332 – 37241WD 7Add
BLAST
Repeati374 – 41340WD 8Add
BLAST
Repeati419 – 45941WD 9Add
BLAST
Repeati477 – 51640WD 10Add
BLAST
Repeati519 – 56042WD 11Add
BLAST
Repeati562 – 60241WD 12Add
BLAST
Repeati604 – 64239WD 13Add
BLAST

Sequence similaritiesi

Contains 13 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG0319. Eukaryota.
ENOG410XPQD. LUCA.
GeneTreeiENSGT00840000129769.
HOGENOMiHOG000188765.
HOVERGENiHBG058869.
InParanoidiQ12788.
KOiK14555.
OMAiTHHFRGS.
OrthoDBiEOG7J4461.
PhylomeDBiQ12788.
TreeFamiTF314872.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiIPR020472. G-protein_beta_WD-40_rep.
IPR011044. Quino_amine_DH_bsu.
IPR013934. SSU_processome_Utp13.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF08625. Utp13. 1 hit.
PF00400. WD40. 8 hits.
[Graphical view]
PRINTSiPR00320. GPROTEINBRPT.
SMARTiSM00320. WD40. 13 hits.
[Graphical view]
SUPFAMiSSF50969. SSF50969. 1 hit.
SSF50978. SSF50978. 2 hits.
PROSITEiPS00678. WD_REPEATS_1. 2 hits.
PS50082. WD_REPEATS_2. 8 hits.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q12788-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAETAAGVGR FKTNYAVERK IEPFYKGGKA QLDQTGQHLF CVCGTRVNIL
60 70 80 90 100
EVASGAVLRS LEQEDQEDIT AFDLSPDNEV LVTASRALLL AQWAWQEGSV
110 120 130 140 150
TRLWKAIHTA PVATMAFDPT STLLATGGCD GAVRVWDIVR HYGTHHFRGS
160 170 180 190 200
PGVVHLVAFH PDPTRLLLFS SATDAAIRVW SLQDRSCLAV LTAHYSAVTS
210 220 230 240 250
LAFSADGHTM LSSGRDKICI IWDLQSCQAT RTVPVFESVE AAVLLPEEPV
260 270 280 290 300
SQLGVKSPGL YFLTAGDQGT LRVWEAASGQ CVYTQAQPPG PGQELTHCTL
310 320 330 340 350
AHTAGVVLTA TADHNLLLYE ARSLRLQKQF AGYSEEVLDV RFLGPEDSHV
360 370 380 390 400
VVASNSPCLK VFELQTSACQ ILHGHTDIVL ALDVFRKGWL FASCAKDQSV
410 420 430 440 450
RIWRMNKAGQ VMCVAQGSGH THSVGTVCCS RLKESFLVTG SQDCTVKLWP
460 470 480 490 500
LPKALLSKNT APDNGPILLQ AQTTQRCHDK DINSVAIAPN DKLLATGSQD
510 520 530 540 550
RTAKLWALPQ CQLLGVFSGH RRGLWCVQFS PMDQVLATAS ADGTIKLWAL
560 570 580 590 600
QDFSCLKTFE GHDASVLKVA FVSRGTQLLS SGSDGLVKLW TIKNNECVRT
610 620 630 640 650
LDAHEDKVWG LHCSRLDDHA LTGASDSRVI LWKDVTEAEQ AEEQARQEEQ
660 670 680 690 700
VVRQQELDNL LHEKRYLRAL GLAISLDRPH TVLTVIQAIR RDPEACEKLE
710 720 730 740 750
ATMLRLRRDQ KEALLRFCVT WNTNSRHCHE AQAVLGVLLR REAPEELLAY
760 770 780 790 800
EGVRAALEAL LPYTERHFQR LSRTLQAAAF LDFLWHNMKL PVPAAAPTPW

ETHKGALP
Length:808
Mass (Da):89,035
Last modified:February 10, 2009 - v2
Checksum:i01BDF217F8D17D30
GO

Sequence cautioni

The sequence AAA18945.1 differs from that shown. Reason: Frameshift at several positions. Curated
The sequence BAD92410.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti104 – 1041W → S in AAH35409 (PubMed:15489334).Curated
Sequence conflicti472 – 4721Q → H in AAA18945 (PubMed:8307582).Curated
Sequence conflicti566 – 5661V → L in AAA18945 (PubMed:8307582).Curated
Sequence conflicti639 – 6402EQ → DE in AAA18945 (PubMed:8307582).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti293 – 2931Q → R.1 Publication
Corresponds to variant rs2230086 [ dbSNP | Ensembl ].
VAR_054320
Natural varianti294 – 2941E → Q.
Corresponds to variant rs8052713 [ dbSNP | Ensembl ].
VAR_054321
Natural varianti457 – 4571S → P.1 Publication
Corresponds to variant rs17605 [ dbSNP | Ensembl ].
VAR_014479

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U02609 mRNA. Translation: AAA18945.1. Frameshift.
AB209173 mRNA. Translation: BAD92410.1. Different initiation.
AC005363 Genomic DNA. No translation available.
AC005606 Genomic DNA. No translation available.
CH471112 Genomic DNA. Translation: EAW85589.1.
BC010231 mRNA. Translation: AAH10231.1.
BC014007 mRNA. Translation: AAH14007.1.
BC035409 mRNA. Translation: AAH35409.1.
CCDSiCCDS10453.1.
PIRiA49367.
RefSeqiNP_006444.2. NM_006453.2.
UniGeneiHs.513267.

Genome annotation databases

EnsembliENST00000568546; ENSP00000454836; ENSG00000183751.
GeneIDi10607.
KEGGihsa:10607.
UCSCiuc002cnu.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U02609 mRNA. Translation: AAA18945.1. Frameshift.
AB209173 mRNA. Translation: BAD92410.1. Different initiation.
AC005363 Genomic DNA. No translation available.
AC005606 Genomic DNA. No translation available.
CH471112 Genomic DNA. Translation: EAW85589.1.
BC010231 mRNA. Translation: AAH10231.1.
BC014007 mRNA. Translation: AAH14007.1.
BC035409 mRNA. Translation: AAH35409.1.
CCDSiCCDS10453.1.
PIRiA49367.
RefSeqiNP_006444.2. NM_006453.2.
UniGeneiHs.513267.

3D structure databases

ProteinModelPortaliQ12788.
SMRiQ12788. Positions 33-638.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115853. 55 interactions.
IntActiQ12788. 24 interactions.
MINTiMINT-1427903.
STRINGi9606.ENSP00000454836.

PTM databases

iPTMnetiQ12788.
PhosphoSiteiQ12788.
SwissPalmiQ12788.

Polymorphism and mutation databases

BioMutaiTBL3.
DMDMi223634675.

2D gel databases

SWISS-2DPAGEQ12788.

Proteomic databases

EPDiQ12788.
MaxQBiQ12788.
PaxDbiQ12788.
PRIDEiQ12788.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000568546; ENSP00000454836; ENSG00000183751.
GeneIDi10607.
KEGGihsa:10607.
UCSCiuc002cnu.2. human.

Organism-specific databases

CTDi10607.
GeneCardsiTBL3.
HGNCiHGNC:11587. TBL3.
HPAiHPA042562.
HPA055695.
MIMi605915. gene.
neXtProtiNX_Q12788.
PharmGKBiPA36351.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0319. Eukaryota.
ENOG410XPQD. LUCA.
GeneTreeiENSGT00840000129769.
HOGENOMiHOG000188765.
HOVERGENiHBG058869.
InParanoidiQ12788.
KOiK14555.
OMAiTHHFRGS.
OrthoDBiEOG7J4461.
PhylomeDBiQ12788.
TreeFamiTF314872.

Enzyme and pathway databases

ReactomeiR-HSA-6790901. rRNA modification in the nucleus.
R-HSA-6791226. Major pathway of rRNA processing in the nucleolus.
SignaLinkiQ12788.

Miscellaneous databases

GeneWikiiTBL3.
GenomeRNAii10607.
PROiQ12788.
SOURCEiSearch...

Gene expression databases

BgeeiQ12788.
CleanExiHS_TBL3.
ExpressionAtlasiQ12788. baseline and differential.
GenevisibleiQ12788. HS.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiIPR020472. G-protein_beta_WD-40_rep.
IPR011044. Quino_amine_DH_bsu.
IPR013934. SSU_processome_Utp13.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF08625. Utp13. 1 hit.
PF00400. WD40. 8 hits.
[Graphical view]
PRINTSiPR00320. GPROTEINBRPT.
SMARTiSM00320. WD40. 13 hits.
[Graphical view]
SUPFAMiSSF50969. SSF50969. 1 hit.
SSF50978. SSF50978. 2 hits.
PROSITEiPS00678. WD_REPEATS_1. 2 hits.
PS50082. WD_REPEATS_2. 8 hits.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "A transducin-like gene maps to the autosomal dominant polycystic kidney disease gene region."
    Weinstat-Saslow D.L., Germino G.G., Somlo S., Reeders S.T.
    Genomics 18:709-711(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F.
    Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS ARG-293 AND PRO-457.
    Tissue: Brain.
  3. "The sequence and analysis of duplication-rich human chromosome 16."
    Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
    , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
    Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. 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].
    Tissue: Brain, Cervix and Lung.
  6. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  7. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS], IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiTBL3_HUMAN
AccessioniPrimary (citable) accession number: Q12788
Secondary accession number(s): Q59GD6, Q8IVB7, Q96A78
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: February 10, 2009
Last modified: June 8, 2016
This is version 148 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

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