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Q3SXZ7

- TTLL9_HUMAN

UniProt

Q3SXZ7 - TTLL9_HUMAN

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Protein

Probable tubulin polyglutamylase TTLL9

Gene

TTLL9

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli

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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiQ3SXZ7.
CleanExiHS_TTLL9.
ExpressionAtlasiQ3SXZ7. baseline and differential.
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.
GeneTreeiENSGT00760000118951.
HOVERGENiHBG066341.
InParanoidiQ3SXZ7.
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

        10         20         30         40         50
MVPSREALLG PGTTAIRCPK KLQNQNYKGH GLSKGKEREQ RASIRFKTTL
60 70 80 90 100
MNTLMDVLRH RPGWVEVKDE GEWDFYWCDV SWLRENFDHT YMDEHVRISH
110 120 130 140 150
FRNHYELTRK NYMVKNLKRF RKQLEREAGK LEAAKCDFFP KTFEMPCEYH
160 170 180 190 200
LFVEEFRKNP GITWIMKPVA RSQGKGIFLF RRLKDIVDWR KDTRSSDDQK
210 220 230 240 250
DDIPVENYVA QRYIENPYLI GGRKFDLRVY VLVMSVFAEC LLWSGHRRQD
260 270 280 290 300
VHLTNVAVQK TSPDYHPKKG CKWTLQRFRQ YLASKHGPEA VETLFRDIDN
310 320 330 340 350
IFVKSLQSVQ KVIISDKHCF ELYGYDILID QDLKPWLLEV NASPSLTASS
360 370 380 390 400
QEDYELKTCL LEDTLHVVDM EARLTGREKR VGGFDLMWND GPVSREEGAP
410 420 430
DLSGMGNFVT NTHLGCVNDR KKQLRQLFCS LQVQKKASS
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. Curated
The sequence CAI42577.1 differs from that shown. Reason: Erroneous gene model prediction. Curated
The sequence EAW76401.1 differs from that shown. Reason: Erroneous gene model prediction. Curated

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:
EMBLi
GenBanki
DDBJi
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

EnsembliENST00000375922; ENSP00000365088; ENSG00000131044. [Q3SXZ7-2]
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:
EMBLi
GenBanki
DDBJi
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 ENST00000375922 ; ENSP00000365088 ; ENSG00000131044 . [Q3SXZ7-2 ]
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.
GeneTreei ENSGT00760000118951.
HOVERGENi HBG066341.
InParanoidi Q3SXZ7.
KOi K16603.
OMAi RICHFRN.
OrthoDBi EOG7N0C4F.
PhylomeDBi Q3SXZ7.
TreeFami TF313087.

Miscellaneous databases

ChiTaRSi TTLL9. human.
GenomeRNAii 164395.
NextBioi 88466.
PROi Q3SXZ7.

Gene expression databases

Bgeei Q3SXZ7.
CleanExi HS_TTLL9.
ExpressionAtlasi Q3SXZ7. baseline and differential.
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: November 26, 2014
This is version 77 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