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Protein

Probable tubulin polyglutamylase TTLL1

Gene

TTLL1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-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)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei194 – 1941ATPBy similarity
Binding sitei196 – 1961ATPBy similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi181 – 1844ATP bindingBy similarity

GO - Molecular functioni

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

GO - Biological processi

  • axoneme assembly Source: Ensembl
  • epithelial cilium movement Source: Ensembl
  • protein polyglutamylation Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Ligase

Keywords - Ligandi

ATP-binding, Nucleotide-binding

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

HGNCiHGNC:1312. TTLL1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Microtubule

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA35030.

Polymorphism and mutation databases

BioMutaiTTLL1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 423423Probable tubulin polyglutamylase TTLL1PRO_0000212438Add
BLAST

Proteomic databases

PaxDbiO95922.
PRIDEiO95922.

PTM databases

PhosphoSiteiO95922.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiO95922.
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 interactions.
STRINGi9606.ENSP00000266254.

Structurei

3D structure databases

ProteinModelPortaliO95922.
SMRiO95922. Positions 30-354.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1 – 367367TTLPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the tubulin polyglutamylase family.Curated
Contains 1 TTL domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG2157. Eukaryota.
ENOG410XQDM. LUCA.
GeneTreeiENSGT00760000118951.
HOGENOMiHOG000256695.
HOVERGENiHBG066341.
InParanoidiO95922.
KOiK16599.
OMAiKMGSRWK.
OrthoDBiEOG70KGXK.
PhylomeDBiO95922.
TreeFamiTF313087.

Family and domain databases

InterProiIPR004344. TTL/TTLL_fam.
IPR027750. TTLL1.
[Graphical view]
PANTHERiPTHR12241:SF31. PTHR12241:SF31. 1 hit.
PfamiPF03133. TTL. 1 hit.
[Graphical view]
PROSITEiPS51221. TTL. 1 hit.
[Graphical view]

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 CAB51423.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti168 – 1681S → L.
Corresponds to variant rs6003030 [ dbSNP | Ensembl ].
VAR_052409

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei39 – 5921MSVQT…RLSDD → LLDLPEFRYRSCLNEFPDFR V in isoform B. 2 PublicationsVSP_006671Add
BLAST
Alternative sequencei60 – 423364Missing in isoform B. 2 PublicationsVSP_006672Add
BLAST
Alternative sequencei298 – 32629Missing in isoform 4. 1 PublicationVSP_011825Add
BLAST

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. Translation: CAB39176.1.
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_011530108.1.
XP_011528411.1. XM_011530109.1.
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

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. Translation: CAB39176.1.
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_011530108.1.
XP_011528411.1. XM_011530109.1.
UniGeneiHs.660298.

3D structure databases

ProteinModelPortaliO95922.
SMRiO95922. Positions 30-354.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117340. 20 interactions.
STRINGi9606.ENSP00000266254.

PTM databases

PhosphoSiteiO95922.

Polymorphism and mutation databases

BioMutaiTTLL1.

Proteomic databases

PaxDbiO95922.
PRIDEiO95922.

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.
GeneCardsiTTLL1.
HGNCiHGNC:1312. TTLL1.
HPAiHPA048392.
MIMi608955. gene.
neXtProtiNX_O95922.
PharmGKBiPA35030.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2157. Eukaryota.
ENOG410XQDM. LUCA.
GeneTreeiENSGT00760000118951.
HOGENOMiHOG000256695.
HOVERGENiHBG066341.
InParanoidiO95922.
KOiK16599.
OMAiKMGSRWK.
OrthoDBiEOG70KGXK.
PhylomeDBiO95922.
TreeFamiTF313087.

Miscellaneous databases

ChiTaRSiTTLL1. human.
GeneWikiiTTLL1.
GenomeRNAii25809.
NextBioi47031.
PROiO95922.
SOURCEiSearch...

Gene expression databases

BgeeiO95922.
CleanExiHS_TTLL1.
ExpressionAtlasiO95922. baseline and differential.
GenevisibleiO95922. HS.

Family and domain databases

InterProiIPR004344. TTL/TTLL_fam.
IPR027750. TTLL1.
[Graphical view]
PANTHERiPTHR12241:SF31. PTHR12241:SF31. 1 hit.
PfamiPF03133. TTL. 1 hit.
[Graphical view]
PROSITEiPS51221. TTL. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Characterization of the human tubulin tyrosine ligase-like 1 gene (TTLL1) mapping to 22q13.1."
    Trichet V., Ruault M., Roizes G., De Sario A.
    Gene 257:109-117(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A AND B), TISSUE SPECIFICITY.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A).
    Tissue: Brain.
  3. "Reevaluating human gene annotation: a second-generation analysis of chromosome 22."
    Collins J.E., Goward M.E., Cole C.G., Smink L.J., Huckle E.J., Knowles S., Bye J.M., Beare D.M., Dunham I.
    Genome Res. 13:27-36(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS A; B AND 4).
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM A).
  5. "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] (ISOFORM A).
    Tissue: Testis.
  6. "The DNA sequence of human chromosome 22."
    Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
    , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
    Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "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 A).
    Tissue: Eye.

Entry informationi

Entry nameiTTLL1_HUMAN
AccessioniPrimary (citable) accession number: O95922
Secondary accession number(s): B2RDS7
, Q9BR27, Q9NRS9, Q9UMU0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: May 1, 1999
Last modified: May 11, 2016
This is version 130 of the entry and version 1 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 22
    Human chromosome 22: 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.