Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Probable tubulin polyglutamylase TTLL1

Gene

TTLL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

Catalytic subunit of the neuronal tubulin polyglutamylase complex. Modifies alpha- and beta-tubulin, generating side chains of glutamate on the gamma-carboxyl groups of specific glutamate residues within the C-terminal tail of alpha- and beta-tubulin (By similarity).By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei194ATPBy similarity1
Binding sitei196ATPBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi181 – 184ATP bindingBy similarity4

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • tubulin-glutamic acid ligase activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionLigase
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-8955332 Carboxyterminal post-translational modifications of tubulin

Names & Taxonomyi

Protein namesi
Recommended name:
Probable tubulin polyglutamylase TTLL1 (EC:6.-.-.-)
Alternative name(s):
Tubulin polyglutamylase complex subunit 3
Short name:
PGs3
Tubulin--tyrosine ligase-like protein 1
Gene namesi
Name:TTLL1
Synonyms:C22orf7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

EuPathDBiHostDB:ENSG00000100271.16
HGNCiHGNC:1312 TTLL1
MIMi608955 gene
neXtProtiNX_O95922

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Microtubule

Pathology & Biotechi

Organism-specific databases

DisGeNETi25809
OpenTargetsiENSG00000100271
PharmGKBiPA35030

Polymorphism and mutation databases

BioMutaiTTLL1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002124381 – 423Probable tubulin polyglutamylase TTLL1Add BLAST423

Proteomic databases

PaxDbiO95922
PeptideAtlasiO95922
PRIDEiO95922
ProteomicsDBi51124
51125 [O95922-2]
51126 [O95922-4]

PTM databases

iPTMnetiO95922
PhosphoSitePlusiO95922

Expressioni

Tissue specificityi

Expressed in a wide range of tissues. Has a stronger expression in heart, brain and testis.1 Publication

Gene expression databases

BgeeiENSG00000100271 Expressed in 188 organ(s), highest expression level in brain
CleanExiHS_TTLL1
ExpressionAtlasiO95922 baseline and differential
GenevisibleiO95922 HS

Organism-specific databases

HPAiHPA048392

Interactioni

Subunit structurei

Part of the neuronal tubulin polyglutamylase complex which contains TPGS1, TPGS2, TTLL1, LRRC49 and NICN1.By similarity

Protein-protein interaction databases

BioGridi117340, 20 interactors
IntActiO95922, 1 interactor
STRINGi9606.ENSP00000266254

Structurei

3D structure databases

ProteinModelPortaliO95922
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1 – 367TTLPROSITE-ProRule annotationAdd BLAST367

Sequence similaritiesi

Belongs to the tubulin polyglutamylase family.Curated

Phylogenomic databases

eggNOGiKOG2157 Eukaryota
ENOG410XQDM LUCA
GeneTreeiENSGT00760000118951
HOGENOMiHOG000256695
HOVERGENiHBG066341
InParanoidiO95922
KOiK16599
OMAiKHGGEYN
OrthoDBiEOG091G082M
PhylomeDBiO95922
TreeFamiTF313087

Family and domain databases

Gene3Di3.30.1490.20, 1 hit
InterProiView protein in InterPro
IPR013815 ATP_grasp_subdomain_1
IPR004344 TTL/TTLL_fam
IPR027750 TTLL1
PANTHERiPTHR12241:SF31 PTHR12241:SF31, 1 hit
PfamiView protein in Pfam
PF03133 TTL, 1 hit
PROSITEiView protein in PROSITE
PS51221 TTL, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.
Isoform A (identifier: O95922-1) [UniParc]FASTAAdd to basket
Also known as: TTLL1a

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
MAGKVKWVTD IEKSVLINNF EKRGWVQVTE NEDWNFYWMS VQTIRNVFSV
60 70 80 90 100
EAGYRLSDDQ IVNHFPNHYE LTRKDLMVKN IKRYRKELEK EGSPLAEKDE
110 120 130 140 150
NGKYLYLDFV PVTYMLPADY NLFVEEFRKS PSSTWIMKPC GKAQGKGIFL
160 170 180 190 200
INKLSQIKKW SRDSKTSSFV SQSNKEAYVI SLYINNPLLI GGRKFDLRLY
210 220 230 240 250
VLVSTYRPLR CYMYKLGFCR FCTVKYTPST SELDNMFVHL TNVAIQKHGE
260 270 280 290 300
DYNHIHGGKW TVSNLRLYLE STRGKEVTSK LFDEIHWIIV QSLKAVAPVM
310 320 330 340 350
NNDKHCFECY GYDIIIDDKL KPWLIEVNAS PSLTSSTAND RILKYNLIND
360 370 380 390 400
TLNIAVPNGE IPDCKWNKSP PKEVLGNYEI LYDEELAQGD GADRELRSRQ
410 420
GQSLGPRAGR SRDSGRAVLT TWK
Length:423
Mass (Da):48,988
Last modified:May 1, 1999 - v1
Checksum:iAFFDEEE008D2E655
GO
Isoform B (identifier: O95922-2) [UniParc]FASTAAdd to basket
Also known as: TTLL1b, Truncated

The sequence of this isoform differs from the canonical sequence as follows:
     39-59: MSVQTIRNVFSVEAGYRLSDD → LLDLPEFRYRSCLNEFPDFRV
     60-423: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:59
Mass (Da):7,273
Checksum:i265D7617B298E223
GO
Isoform 4 (identifier: O95922-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     298-326: Missing.

Note: No experimental confirmation available.
Show »
Length:394
Mass (Da):45,493
Checksum:i3BEB10DE2B04FE34
GO

Sequence cautioni

The sequence CAB51423 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_052409168S → L. Corresponds to variant dbSNP:rs6003030Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00667139 – 59MSVQT…RLSDD → LLDLPEFRYRSCLNEFPDFR V in isoform B. 2 PublicationsAdd BLAST21
Alternative sequenceiVSP_00667260 – 423Missing in isoform B. 2 PublicationsAdd BLAST364
Alternative sequenceiVSP_011825298 – 326Missing in isoform 4. 1 PublicationAdd BLAST29

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF104927 mRNA Translation: AAG29879.1
AF173935 mRNA Translation: AAF91088.1
AL136687 mRNA Translation: CAB66622.1
AL096883 mRNA Translation: CAB51423.1 Sequence problems.
AL096886 mRNA Translation: CAB51469.1
AL589867 mRNA Translation: CAC34478.1
CR456599 mRNA Translation: CAG30485.1
AK315658 mRNA Translation: BAG38024.1
AL022476 Genomic DNA No translation available.
CH471138 Genomic DNA Translation: EAW73279.1
BC014968 mRNA Translation: AAH14968.1
CCDSiCCDS14043.1 [O95922-1]
RefSeqiNP_036395.1, NM_012263.4 [O95922-1]
XP_011528410.1, XM_011530108.2
XP_016884240.1, XM_017028751.1 [O95922-1]
XP_016884241.1, XM_017028752.1 [O95922-1]
XP_016884242.1, XM_017028753.1
UniGeneiHs.660298

Genome annotation databases

EnsembliENST00000266254; ENSP00000266254; ENSG00000100271 [O95922-1]
ENST00000331018; ENSP00000333734; ENSG00000100271 [O95922-4]
ENST00000439248; ENSP00000401518; ENSG00000100271 [O95922-2]
ENST00000440761; ENSP00000403332; ENSG00000100271 [O95922-2]
GeneIDi25809
KEGGihsa:25809
UCSCiuc003bdi.5 human [O95922-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF104927 mRNA Translation: AAG29879.1
AF173935 mRNA Translation: AAF91088.1
AL136687 mRNA Translation: CAB66622.1
AL096883 mRNA Translation: CAB51423.1 Sequence problems.
AL096886 mRNA Translation: CAB51469.1
AL589867 mRNA Translation: CAC34478.1
CR456599 mRNA Translation: CAG30485.1
AK315658 mRNA Translation: BAG38024.1
AL022476 Genomic DNA No translation available.
CH471138 Genomic DNA Translation: EAW73279.1
BC014968 mRNA Translation: AAH14968.1
CCDSiCCDS14043.1 [O95922-1]
RefSeqiNP_036395.1, NM_012263.4 [O95922-1]
XP_011528410.1, XM_011530108.2
XP_016884240.1, XM_017028751.1 [O95922-1]
XP_016884241.1, XM_017028752.1 [O95922-1]
XP_016884242.1, XM_017028753.1
UniGeneiHs.660298

3D structure databases

ProteinModelPortaliO95922
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117340, 20 interactors
IntActiO95922, 1 interactor
STRINGi9606.ENSP00000266254

PTM databases

iPTMnetiO95922
PhosphoSitePlusiO95922

Polymorphism and mutation databases

BioMutaiTTLL1

Proteomic databases

PaxDbiO95922
PeptideAtlasiO95922
PRIDEiO95922
ProteomicsDBi51124
51125 [O95922-2]
51126 [O95922-4]

Protocols and materials databases

DNASUi25809
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000266254; ENSP00000266254; ENSG00000100271 [O95922-1]
ENST00000331018; ENSP00000333734; ENSG00000100271 [O95922-4]
ENST00000439248; ENSP00000401518; ENSG00000100271 [O95922-2]
ENST00000440761; ENSP00000403332; ENSG00000100271 [O95922-2]
GeneIDi25809
KEGGihsa:25809
UCSCiuc003bdi.5 human [O95922-1]

Organism-specific databases

CTDi25809
DisGeNETi25809
EuPathDBiHostDB:ENSG00000100271.16
GeneCardsiTTLL1
HGNCiHGNC:1312 TTLL1
HPAiHPA048392
MIMi608955 gene
neXtProtiNX_O95922
OpenTargetsiENSG00000100271
PharmGKBiPA35030
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2157 Eukaryota
ENOG410XQDM LUCA
GeneTreeiENSGT00760000118951
HOGENOMiHOG000256695
HOVERGENiHBG066341
InParanoidiO95922
KOiK16599
OMAiKHGGEYN
OrthoDBiEOG091G082M
PhylomeDBiO95922
TreeFamiTF313087

Enzyme and pathway databases

ReactomeiR-HSA-8955332 Carboxyterminal post-translational modifications of tubulin

Miscellaneous databases

ChiTaRSiTTLL1 human
GeneWikiiTTLL1
GenomeRNAii25809
PROiPR:O95922
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000100271 Expressed in 188 organ(s), highest expression level in brain
CleanExiHS_TTLL1
ExpressionAtlasiO95922 baseline and differential
GenevisibleiO95922 HS

Family and domain databases

Gene3Di3.30.1490.20, 1 hit
InterProiView protein in InterPro
IPR013815 ATP_grasp_subdomain_1
IPR004344 TTL/TTLL_fam
IPR027750 TTLL1
PANTHERiPTHR12241:SF31 PTHR12241:SF31, 1 hit
PfamiView protein in Pfam
PF03133 TTL, 1 hit
PROSITEiView protein in PROSITE
PS51221 TTL, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTTLL1_HUMAN
AccessioniPrimary (citable) accession number: O95922
Secondary accession number(s): B2RDS7
, Q9BR27, Q9NRS9, Q9UMU0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: May 1, 1999
Last modified: November 7, 2018
This is version 149 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again