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Q3SXZ7

- TTLL9_HUMAN

UniProt

Q3SXZ7 - TTLL9_HUMAN

Protein

Probable tubulin polyglutamylase TTLL9

Gene

TTLL9

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 75 (01 Oct 2014)
      Sequence version 3 (25 Nov 2008)
      Previous versions | rss
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    Functioni

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

    GO - Molecular functioni

    1. ligase activity Source: UniProtKB-KW

    GO - Biological processi

    1. cellular protein modification process Source: InterPro

    Keywords - Molecular functioni

    Ligase

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Probable tubulin polyglutamylase TTLL9 (EC:6.-.-.-)
    Alternative name(s):
    Tubulin--tyrosine ligase-like protein 9
    Gene namesi
    Name:TTLL9
    Synonyms:C20orf125
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 20

    Organism-specific databases

    HGNCiHGNC:16118. TTLL9.

    Subcellular locationi

    Cytoplasmcytoskeletoncilium basal body By similarity. Cytoplasmcytoskeleton By similarity

    GO - Cellular componenti

    1. cilium Source: UniProtKB-KW
    2. cytoplasm Source: UniProtKB-KW
    3. microtubule Source: UniProtKB-KW

    Keywords - Cellular componenti

    Cell projection, Cilium, Cytoplasm, Cytoskeleton, Microtubule

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA25666.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 439439Probable tubulin polyglutamylase TTLL9PRO_0000324517Add
    BLAST

    Proteomic databases

    PaxDbiQ3SXZ7.
    PRIDEiQ3SXZ7.

    Expressioni

    Gene expression databases

    ArrayExpressiQ3SXZ7.
    BgeeiQ3SXZ7.
    CleanExiHS_TTLL9.
    GenevestigatoriQ3SXZ7.

    Organism-specific databases

    HPAiHPA041772.

    Interactioni

    Protein-protein interaction databases

    BioGridi127895. 1 interaction.
    STRINGi9606.ENSP00000365105.

    Structurei

    3D structure databases

    ProteinModelPortaliQ3SXZ7.
    SMRiQ3SXZ7. Positions 98-345.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini40 – 380341TTLPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 TTL domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG311148.
    HOVERGENiHBG066341.
    KOiK16603.
    OMAiRICHFRN.
    OrthoDBiEOG7N0C4F.
    PhylomeDBiQ3SXZ7.
    TreeFamiTF313087.

    Family and domain databases

    InterProiIPR004344. TTL/TTLL_fam.
    IPR027751. TTLL9.
    [Graphical view]
    PANTHERiPTHR12241:SF39. PTHR12241:SF39. 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. Align

    Isoform 1 (identifier: Q3SXZ7-1) [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

    MVPSREALLG PGTTAIRCPK KLQNQNYKGH GLSKGKEREQ RASIRFKTTL    50
    MNTLMDVLRH RPGWVEVKDE GEWDFYWCDV SWLRENFDHT YMDEHVRISH 100
    FRNHYELTRK NYMVKNLKRF RKQLEREAGK LEAAKCDFFP KTFEMPCEYH 150
    LFVEEFRKNP GITWIMKPVA RSQGKGIFLF RRLKDIVDWR KDTRSSDDQK 200
    DDIPVENYVA QRYIENPYLI GGRKFDLRVY VLVMSVFAEC LLWSGHRRQD 250
    VHLTNVAVQK TSPDYHPKKG CKWTLQRFRQ YLASKHGPEA VETLFRDIDN 300
    IFVKSLQSVQ KVIISDKHCF ELYGYDILID QDLKPWLLEV NASPSLTASS 350
    QEDYELKTCL LEDTLHVVDM EARLTGREKR VGGFDLMWND GPVSREEGAP 400
    DLSGMGNFVT NTHLGCVNDR KKQLRQLFCS LQVQKKASS 439
    Length:439
    Mass (Da):51,472
    Last modified:November 25, 2008 - v3
    Checksum:iED6172FE902F791C
    GO
    Isoform 2 (identifier: Q3SXZ7-2) [UniParc]FASTAAdd to Basket

    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.

    Show »
    Length:347
    Mass (Da):41,501
    Checksum:iA39458A3476859A1
    GO
    Isoform 3 (identifier: Q3SXZ7-3) [UniParc]FASTAAdd to Basket

    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.

    Show »
    Length:230
    Mass (Da):27,588
    Checksum:i4622BF551667A4FF
    GO

    Sequence cautioni

    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.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti274 – 2741T → M in AAI04026. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti76 – 761Y → C.
    Corresponds to variant rs17093689 [ dbSNP | Ensembl ].
    VAR_039805

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 5050Missing in isoform 2 and isoform 3. 1 PublicationVSP_035765Add
    BLAST
    Alternative sequencei169 – 19123Missing in isoform 3. 1 PublicationVSP_035766Add
    BLAST
    Alternative sequencei236 – 25015VFAEC…HRRQD → YIPLRAWLYRDGFARFSNTR FTLNSIDDQY in isoform 2 and isoform 3. 1 PublicationVSP_035767Add
    BLAST
    Alternative sequencei270 – 439170GCKWT…KKASS → VAPGGQCVPITDSQQPGRL in isoform 3. 1 PublicationVSP_035768Add
    BLAST
    Alternative sequencei374 – 43966LTGRE…KKASS → SLRADSPCW in isoform 2. 1 PublicationVSP_035769Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS42863.1. [Q3SXZ7-1]
    RefSeqiNP_001008409.1. NM_001008409.2. [Q3SXZ7-1]
    XP_006723787.1. XM_006723724.1. [Q3SXZ7-2]
    UniGeneiHs.712915.

    Genome annotation databases

    EnsembliENST00000310998; ENSP00000308980; ENSG00000131044. [Q3SXZ7-2]
    ENST00000375921; ENSP00000365086; ENSG00000131044. [Q3SXZ7-3]
    ENST00000375938; ENSP00000365105; ENSG00000131044. [Q3SXZ7-1]
    ENST00000535842; ENSP00000442515; ENSG00000131044. [Q3SXZ7-1]
    GeneIDi164395.
    KEGGihsa:164395.
    UCSCiuc010gdx.1. human. [Q3SXZ7-1]

    Polymorphism databases

    DMDMi215274204.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS42863.1. [Q3SXZ7-1 ]
    RefSeqi NP_001008409.1. NM_001008409.2. [Q3SXZ7-1 ]
    XP_006723787.1. XM_006723724.1. [Q3SXZ7-2 ]
    UniGenei Hs.712915.

    3D structure databases

    ProteinModelPortali Q3SXZ7.
    SMRi Q3SXZ7. Positions 98-345.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 127895. 1 interaction.
    STRINGi 9606.ENSP00000365105.

    Polymorphism databases

    DMDMi 215274204.

    Proteomic databases

    PaxDbi Q3SXZ7.
    PRIDEi Q3SXZ7.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000310998 ; ENSP00000308980 ; ENSG00000131044 . [Q3SXZ7-2 ]
    ENST00000375921 ; ENSP00000365086 ; ENSG00000131044 . [Q3SXZ7-3 ]
    ENST00000375938 ; ENSP00000365105 ; ENSG00000131044 . [Q3SXZ7-1 ]
    ENST00000535842 ; ENSP00000442515 ; ENSG00000131044 . [Q3SXZ7-1 ]
    GeneIDi 164395.
    KEGGi hsa:164395.
    UCSCi uc010gdx.1. human. [Q3SXZ7-1 ]

    Organism-specific databases

    CTDi 164395.
    GeneCardsi GC20P030458.
    HGNCi HGNC:16118. TTLL9.
    HPAi HPA041772.
    neXtProti NX_Q3SXZ7.
    PharmGKBi PA25666.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG311148.
    HOVERGENi HBG066341.
    KOi K16603.
    OMAi RICHFRN.
    OrthoDBi EOG7N0C4F.
    PhylomeDBi Q3SXZ7.
    TreeFami TF313087.

    Miscellaneous databases

    GenomeRNAii 164395.
    NextBioi 88466.
    PROi Q3SXZ7.

    Gene expression databases

    ArrayExpressi Q3SXZ7.
    Bgeei Q3SXZ7.
    CleanExi HS_TTLL9.
    Genevestigatori Q3SXZ7.

    Family and domain databases

    InterProi IPR004344. TTL/TTLL_fam.
    IPR027751. TTLL9.
    [Graphical view ]
    PANTHERi PTHR12241:SF39. PTHR12241:SF39. 1 hit.
    Pfami PF03133. TTL. 1 hit.
    [Graphical view ]
    PROSITEi PS51221. TTL. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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.
      , 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.
      , 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. 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).

    Entry informationi

    Entry nameiTTLL9_HUMAN
    AccessioniPrimary (citable) accession number: Q3SXZ7
    Secondary accession number(s): A6NH06
    , A6NIS5, B3KSG8, Q3SXZ8, Q5JYS3, Q5JYS4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 18, 2008
    Last sequence update: November 25, 2008
    Last modified: October 1, 2014
    This is version 75 of the entry and version 3 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 20
      Human chromosome 20: 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

    External Data

    Dasty 3