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Protein

Tubulin monoglycylase TTLL3

Gene

TTLL3

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

Functioni

Monoglycylase which modifies alpha- and beta-tubulin, generating side chains of glycine on the gamma-carboxyl groups of specific glutamate residues within the C-terminal tail of alpha- and beta-tubulin. Involved in the side-chain initiation step of the glycylation reaction by adding a single glycine chain to generate monoglycine side chains. Not involved in elongation step of the polyglycylation reaction.1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei334 – 3341ATPBy similarity
Binding sitei336 – 3361ATPBy similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi321 – 3244ATP bindingBy similarity

GO - Molecular functioni

GO - Biological processi

  • axoneme assembly Source: UniProtKB
  • cilium assembly Source: UniProtKB
  • protein polyglycylation Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Ligase

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Tubulin monoglycylase TTLL3 (EC:6.3.2.-)
Alternative name(s):
HOTTL
Tubulin--tyrosine ligase-like protein 3
Gene namesi
Name:TTLL3
ORF Names:PRO0207
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:24483. TTLL3.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton, Microtubule

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi469 – 4691E → G: Abolishes monoglycylase activity. 1 Publication

Organism-specific databases

PharmGKBiPA134942870.

Polymorphism and mutation databases

BioMutaiTTLL3.
DMDMi172046606.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 772772Tubulin monoglycylase TTLL3PRO_0000212441Add
BLAST

Proteomic databases

EPDiQ9Y4R7.
PaxDbiQ9Y4R7.
PeptideAtlasiQ9Y4R7.
PRIDEiQ9Y4R7.
TopDownProteomicsiQ9Y4R7-5. [Q9Y4R7-5]

PTM databases

iPTMnetiQ9Y4R7.
SwissPalmiQ9Y4R7.

Expressioni

Gene expression databases

BgeeiQ9Y4R7.
CleanExiHS_TTLL3.
ExpressionAtlasiQ9Y4R7. baseline and differential.
GenevisibleiQ9Y4R7. HS.

Organism-specific databases

HPAiHPA051413.

Interactioni

Protein-protein interaction databases

BioGridi117575. 13 interactions.
IntActiQ9Y4R7. 2 interactions.
MINTiMINT-1431922.
STRINGi9606.ENSP00000392549.

Structurei

3D structure databases

ProteinModelPortaliQ9Y4R7.
SMRiQ9Y4R7. Positions 278-490.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini151 – 510360TTLPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 TTL domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG2157. Eukaryota.
ENOG410XQDM. LUCA.
GeneTreeiENSGT00760000118951.
HOVERGENiHBG069401.
InParanoidiQ9Y4R7.
KOiK16608.
PhylomeDBiQ9Y4R7.

Family and domain databases

InterProiIPR004344. TTL/TTLL_fam.
[Graphical view]
PfamiPF03133. TTL. 1 hit.
[Graphical view]
PROSITEiPS51221. TTL. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y4R7-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MNRLRNAKIY VERAVKQKKI FTIQGCYPVI RCLLRRRGWV EKKMVHRSGP
60 70 80 90 100
TLLPPQKDLD SSAMGDSDTT EDEDEDEDEE FQPSQLFDFD DLLKFDDLDG
110 120 130 140 150
THALMVGLCL NLRNLPWFDE VDANSFFPRC YCLGAEDDKK AFIEDFWLTA
160 170 180 190 200
ARNVLKLVVK SEWKSYPIQA VEEEASGDKQ PKKQEKNPVL VSPEFVDEAL
210 220 230 240 250
CACEEYLSNL AHMDIDKDLE APLYLTPEGW SLFLQRYYQV VHEGAELRHL
260 270 280 290 300
DTQVQRCEDI LQQLQAVVPQ IDMEGDRNIW IVKPGAKSRG RGIMCMDHLE
310 320 330 340 350
EMLKLVNGNP VVMKDGKWVV QKYIERPLLI FGTKFDLRQW FLVTDWNPLT
360 370 380 390 400
VWFYRDSYIR FSTQPFSLKN LDNSVHLCNN SIQKHLENSC HRHPLLPPDN
410 420 430 440 450
MWSSQRFQAH LQEMGAPNAW STIIVPGMKD AVIHALQTSQ DTVQCRKASF
460 470 480 490 500
ELYGADFVFG EDFQPWLIEI NASPTMAPST AVTARLCAGV QADTLRVVID
510 520 530 540 550
RMLDRNCDTG AFELIYKQPA VEVPQYVGIR LLVEGFTIKK PMAMCHRRMG
560 570 580 590 600
VRPAVPLLTQ RGSGEARHHF PSLHTKAQLP SPHVLRHQGQ VLRRQHSKLV
610 620 630 640 650
GTKALSTTGK ALRTLPTAKV FISLPPNLDF KVAPSILKPR KAPALLCLRG
660 670 680 690 700
PQLEVPCCLC PLKSEQFLAP VGRSRPKANS RPDCDKPRAE ACPMKRLSPL
710 720 730 740 750
KPLPLVGTFQ RRRGLGDMKL GKPLLRFPTA LVLDPTPNKK KQVKYLGLDS
760 770
IAVGGSRVDG ARPCTPGSTA RA
Note: No experimental confirmation available.
Length:772
Mass (Da):87,414
Last modified:March 18, 2008 - v2
Checksum:iC89074C5E98E15C1
GO
Isoform 2 (identifier: Q9Y4R7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-212: Missing.
     520-564: AVEVPQYVGI...VPLLTQRGSG → VTTSPASTPR...LRPCRPQARP
     565-772: Missing.

Show »
Length:352
Mass (Da):40,356
Checksum:i49FD8E8118C7C20D
GO
Isoform 3 (identifier: Q9Y4R7-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-212: Missing.
     642-646: APALL → VGLDL
     647-772: Missing.

Show »
Length:434
Mass (Da):49,408
Checksum:i39E4CFA6D8650ACD
GO
Isoform 4 (identifier: Q9Y4R7-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-272: Missing.
     520-564: AVEVPQYVGI...VPLLTQRGSG → VTTSPASTPR...LRPCRPQARP
     565-772: Missing.

Note: No experimental confirmation available.
Show »
Length:292
Mass (Da):33,305
Checksum:iA39195EC06EF0A97
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti279 – 2791I → F in AAF23353 (Ref. 5) Curated
Isoform 2 (identifier: Q9Y4R7-2)
Sequence conflicti317 – 3171R → G in CAH10554 (PubMed:17974005).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti174 – 1741E → K.
Corresponds to variant rs3806669 [ dbSNP | Ensembl ].
VAR_052410
Natural varianti418 – 4181N → H.
Corresponds to variant rs2290302 [ dbSNP | Ensembl ].
VAR_052411
Natural varianti454 – 4541G → S in a colorectal cancer sample, abolishes monoglycylase activity; somatic mutation. 2 Publications
VAR_036054
Natural varianti476 – 4761M → I in a colorectal cancer sample, abolishes monoglycylase activity; somatic mutation. 2 Publications
VAR_036055
Natural varianti502 – 5021M → R.3 Publications
Corresponds to variant rs2290305 [ dbSNP | Ensembl ].
VAR_020207
Natural varianti689 – 6891A → T.
Corresponds to variant rs1057278 [ dbSNP | Ensembl ].
VAR_052412

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 272272Missing in isoform 4. 1 PublicationVSP_032567Add
BLAST
Alternative sequencei1 – 212212Missing in isoform 2 and isoform 3. 2 PublicationsVSP_032568Add
BLAST
Alternative sequencei520 – 56445AVEVP…QRGSG → VTTSPASTPRPSCLLPMYSD TRARSSDDSTASWWALRPCR PQARP in isoform 2 and isoform 4. 3 PublicationsVSP_032572Add
BLAST
Alternative sequencei565 – 772208Missing in isoform 2 and isoform 4. 3 PublicationsVSP_032573Add
BLAST
Alternative sequencei642 – 6465APALL → VGLDL in isoform 3. 2 PublicationsVSP_032576
Alternative sequencei647 – 772126Missing in isoform 3. 2 PublicationsVSP_032577Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL096725 mRNA. Translation: CAB46375.1.
AL833939 mRNA. Translation: CAD38794.1.
BX648175 mRNA. Translation: CAH10554.1.
AC022382 Genomic DNA. No translation available.
BC098298 mRNA. Translation: AAH98298.1.
BC098361 mRNA. Translation: AAH98361.1.
BC099735 mRNA. Translation: AAH99735.1.
BC105638 mRNA. Translation: AAI05639.1.
AK023960 mRNA. Translation: BAB14741.1.
AF078842 mRNA. Translation: AAF23353.1.
PIRiT12515.
RefSeqiNP_001021100.3. NM_001025930.3.
UniGeneiHs.726435.

Genome annotation databases

EnsembliENST00000383827; ENSP00000373338; ENSG00000214021. [Q9Y4R7-2]
ENST00000430793; ENSP00000403874; ENSG00000214021. [Q9Y4R7-5]
ENST00000438141; ENSP00000409246; ENSG00000214021. [Q9Y4R7-2]
GeneIDi26140.
KEGGihsa:26140.
UCSCiuc003bti.5. human. [Q9Y4R7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL096725 mRNA. Translation: CAB46375.1.
AL833939 mRNA. Translation: CAD38794.1.
BX648175 mRNA. Translation: CAH10554.1.
AC022382 Genomic DNA. No translation available.
BC098298 mRNA. Translation: AAH98298.1.
BC098361 mRNA. Translation: AAH98361.1.
BC099735 mRNA. Translation: AAH99735.1.
BC105638 mRNA. Translation: AAI05639.1.
AK023960 mRNA. Translation: BAB14741.1.
AF078842 mRNA. Translation: AAF23353.1.
PIRiT12515.
RefSeqiNP_001021100.3. NM_001025930.3.
UniGeneiHs.726435.

3D structure databases

ProteinModelPortaliQ9Y4R7.
SMRiQ9Y4R7. Positions 278-490.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117575. 13 interactions.
IntActiQ9Y4R7. 2 interactions.
MINTiMINT-1431922.
STRINGi9606.ENSP00000392549.

PTM databases

iPTMnetiQ9Y4R7.
SwissPalmiQ9Y4R7.

Polymorphism and mutation databases

BioMutaiTTLL3.
DMDMi172046606.

Proteomic databases

EPDiQ9Y4R7.
PaxDbiQ9Y4R7.
PeptideAtlasiQ9Y4R7.
PRIDEiQ9Y4R7.
TopDownProteomicsiQ9Y4R7-5. [Q9Y4R7-5]

Protocols and materials databases

DNASUi26140.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000383827; ENSP00000373338; ENSG00000214021. [Q9Y4R7-2]
ENST00000430793; ENSP00000403874; ENSG00000214021. [Q9Y4R7-5]
ENST00000438141; ENSP00000409246; ENSG00000214021. [Q9Y4R7-2]
GeneIDi26140.
KEGGihsa:26140.
UCSCiuc003bti.5. human. [Q9Y4R7-1]

Organism-specific databases

CTDi26140.
GeneCardsiTTLL3.
H-InvDBHIX0003033.
HIX0033847.
HGNCiHGNC:24483. TTLL3.
HPAiHPA051413.
neXtProtiNX_Q9Y4R7.
PharmGKBiPA134942870.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2157. Eukaryota.
ENOG410XQDM. LUCA.
GeneTreeiENSGT00760000118951.
HOVERGENiHBG069401.
InParanoidiQ9Y4R7.
KOiK16608.
PhylomeDBiQ9Y4R7.

Miscellaneous databases

GeneWikiiTTLL3.
GenomeRNAii26140.
PROiQ9Y4R7.

Gene expression databases

BgeeiQ9Y4R7.
CleanExiHS_TTLL3.
ExpressionAtlasiQ9Y4R7. baseline and differential.
GenevisibleiQ9Y4R7. HS.

Family and domain databases

InterProiIPR004344. TTL/TTLL_fam.
[Graphical view]
PfamiPF03133. TTL. 1 hit.
[Graphical view]
PROSITEiPS51221. TTL. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), VARIANT ARG-502.
    Tissue: Cervix, Testis and Uterus.
  2. "The DNA sequence, annotation and analysis of human chromosome 3."
    Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
    , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
    Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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] (ISOFORMS 2 AND 3), VARIANT ARG-502.
  4. "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 1-744 (ISOFORM 1), VARIANT ARG-502.
    Tissue: Thyroid.
  5. "Functional prediction of the coding sequences of 50 new genes deduced by analysis of cDNA clones from human fetal liver."
    Yu Y., Zhang C., Luo L., Ouyang S., Zhang S., Li W., Wu J., Zhou S., Liu M., He F.
    Submitted (JUL-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
    Tissue: Fetal liver.
  6. "Evolutionary divergence of enzymatic mechanisms for posttranslational polyglycylation."
    Rogowski K., Juge F., van Dijk J., Wloga D., Strub J.-M., Levilliers N., Thomas D., Bre M.-H., Van Dorsselaer A., Gaertig J., Janke C.
    Cell 137:1076-1087(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, MUTAGENESIS OF GLU-469, CHARACTERIZATION OF VARIANTS SER-454 AND ILE-476.
  7. Cited for: VARIANTS [LARGE SCALE ANALYSIS] SER-454 AND ILE-476.

Entry informationi

Entry nameiTTLL3_HUMAN
AccessioniPrimary (citable) accession number: Q9Y4R7
Secondary accession number(s): Q4KMS8
, Q6AWA3, Q6ZU95, Q8NDN8, Q96GG8, Q9H876, Q9UI99
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: March 18, 2008
Last modified: July 6, 2016
This is version 125 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 3
    Human chromosome 3: 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. 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.