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Q3SXZ7 (TTLL9_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 71. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Probable tubulin polyglutamylase TTLL9

EC=6.-.-.-
Alternative name(s):
Tubulin--tyrosine ligase-like protein 9
Gene names
Name:TTLL9
Synonyms:C20orf125
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length439 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Probable tubulin polyglutamylase that forms polyglutamate side chains on tubulin. Probably acts when complexed with other proteins By similarity.

Subcellular location

Cytoplasmcytoskeletoncilium basal body By similarity. Cytoplasmcytoskeleton By similarity.

Sequence similarities

Contains 1 TTL domain.

Sequence caution

The sequence CAI42576.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence CAI42577.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence EAW76401.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
   Cellular componentCell projection
Cilium
Cytoplasm
Cytoskeleton
Microtubule
   Coding sequence diversityAlternative splicing
Polymorphism
   Molecular functionLigase
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcellular protein modification process

Inferred from electronic annotation. Source: InterPro

   Cellular_componentcilium

Inferred from electronic annotation. Source: UniProtKB-KW

cytoplasm

Inferred from electronic annotation. Source: UniProtKB-KW

microtubule

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_functionligase activity

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q3SXZ7-1)

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 2 (identifier: Q3SXZ7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-50: Missing.
     236-250: VFAECLLWSGHRRQD → YIPLRAWLYRDGFARFSNTRFTLNSIDDQY
     374-439: LTGREKRVGGFDLMWNDGPVSREEGAPDLSGMGNFVTNTHLGCVNDRKKQLRQLFCSLQVQKKASS → SLRADSPCW
Note: No experimental confirmation available.
Isoform 3 (identifier: Q3SXZ7-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-50: Missing.
     169-191: Missing.
     236-250: VFAECLLWSGHRRQD → YIPLRAWLYRDGFARFSNTRFTLNSIDDQY
     270-439: GCKWTLQRFR...SLQVQKKASS → VAPGGQCVPITDSQQPGRL
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 439439Probable tubulin polyglutamylase TTLL9
PRO_0000324517

Regions

Domain40 – 380341TTL

Natural variations

Alternative sequence1 – 5050Missing in isoform 2 and isoform 3.
VSP_035765
Alternative sequence169 – 19123Missing in isoform 3.
VSP_035766
Alternative sequence236 – 25015VFAEC…HRRQD → YIPLRAWLYRDGFARFSNTR FTLNSIDDQY in isoform 2 and isoform 3.
VSP_035767
Alternative sequence270 – 439170GCKWT…KKASS → VAPGGQCVPITDSQQPGRL in isoform 3.
VSP_035768
Alternative sequence374 – 43966LTGRE…KKASS → SLRADSPCW in isoform 2.
VSP_035769
Natural variant761Y → C.
Corresponds to variant rs17093689 [ dbSNP | Ensembl ].
VAR_039805

Experimental info

Sequence conflict2741T → M in AAI04026. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 25, 2008. Version 3.
Checksum: ED6172FE902F791C

FASTA43951,472
        10         20         30         40         50         60 
MVPSREALLG PGTTAIRCPK KLQNQNYKGH GLSKGKEREQ RASIRFKTTL MNTLMDVLRH 

        70         80         90        100        110        120 
RPGWVEVKDE GEWDFYWCDV SWLRENFDHT YMDEHVRISH FRNHYELTRK NYMVKNLKRF 

       130        140        150        160        170        180 
RKQLEREAGK LEAAKCDFFP KTFEMPCEYH LFVEEFRKNP GITWIMKPVA RSQGKGIFLF 

       190        200        210        220        230        240 
RRLKDIVDWR KDTRSSDDQK DDIPVENYVA QRYIENPYLI GGRKFDLRVY VLVMSVFAEC 

       250        260        270        280        290        300 
LLWSGHRRQD VHLTNVAVQK TSPDYHPKKG CKWTLQRFRQ YLASKHGPEA VETLFRDIDN 

       310        320        330        340        350        360 
IFVKSLQSVQ KVIISDKHCF ELYGYDILID QDLKPWLLEV NASPSLTASS QEDYELKTCL 

       370        380        390        400        410        420 
LEDTLHVVDM EARLTGREKR VGGFDLMWND GPVSREEGAP DLSGMGNFVT NTHLGCVNDR 

       430 
KKQLRQLFCS LQVQKKASS 

« Hide

Isoform 2 [UniParc].

Checksum: A39458A3476859A1
Show »

FASTA34741,501
Isoform 3 [UniParc].

Checksum: 4622BF551667A4FF
Show »

FASTA23027,588

References

[1]"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. expand/collapse author list , 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 1).
Tissue: Testis.
[2]"The DNA sequence and comparative analysis of human chromosome 20."
Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. expand/collapse author list , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]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. expand/collapse author list , 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].
[4]"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).

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK093491 mRNA. Translation: BAG52730.1.
AL031658, AL359765 Genomic DNA. Translation: CAI42576.1. Sequence problems.
AL031658 Genomic DNA. Translation: CAI42577.1. Sequence problems.
CH471077 Genomic DNA. Translation: EAW76401.1. Sequence problems.
CH471077 Genomic DNA. Translation: EAW76403.1.
BC104024 mRNA. Translation: AAI04025.1.
BC104025 mRNA. Translation: AAI04026.1.
RefSeqNP_001008409.1. NM_001008409.2.
UniGeneHs.712915.

3D structure databases

ProteinModelPortalQ3SXZ7.
SMRQ3SXZ7. Positions 52-368.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid127895. 1 interaction.
STRING9606.ENSP00000365105.

Polymorphism databases

DMDM215274204.

Proteomic databases

PaxDbQ3SXZ7.
PRIDEQ3SXZ7.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000310998; ENSP00000308980; ENSG00000131044. [Q3SXZ7-2]
ENST00000375921; ENSP00000365086; ENSG00000131044. [Q3SXZ7-3]
ENST00000375938; ENSP00000365105; ENSG00000131044. [Q3SXZ7-1]
ENST00000535842; ENSP00000442515; ENSG00000131044. [Q3SXZ7-1]
GeneID164395.
KEGGhsa:164395.
UCSCuc010gdx.1. human. [Q3SXZ7-1]

Organism-specific databases

CTD164395.
GeneCardsGC20P030458.
HGNCHGNC:16118. TTLL9.
HPAHPA041772.
neXtProtNX_Q3SXZ7.
PharmGKBPA25666.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG311148.
HOVERGENHBG066341.
KOK16603.
OrthoDBEOG7N0C4F.
PhylomeDBQ3SXZ7.
TreeFamTF313087.

Gene expression databases

ArrayExpressQ3SXZ7.
BgeeQ3SXZ7.
CleanExHS_TTLL9.
GenevestigatorQ3SXZ7.

Family and domain databases

InterProIPR004344. TTL/TTLL_fam.
IPR027751. TTLL9.
[Graphical view]
PANTHERPTHR12241:SF39. PTHR12241:SF39. 1 hit.
PfamPF03133. TTL. 1 hit.
[Graphical view]
PROSITEPS51221. TTL. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi164395.
NextBio88466.
PROQ3SXZ7.

Entry information

Entry nameTTLL9_HUMAN
AccessionPrimary (citable) accession number: Q3SXZ7
Secondary accession number(s): A6NH06 expand/collapse secondary AC list , A6NIS5, B3KSG8, Q3SXZ8, Q5JYS3, Q5JYS4
Entry history
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: November 25, 2008
Last modified: April 16, 2014
This is version 71 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 20

Human chromosome 20: entries, gene names and cross-references to MIM