Q3SXZ7 (TTLL9_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Probable tubulin polyglutamylase TTLL9
EC=6.-.-.-

Alternative name(s):
Tubulin--tyrosine ligase-like protein 9

Gene names

Name:	TTLL9
Synonyms:	C20orf125

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	439 AA.
Sequence status	Complete.
Protein existence	Evidence 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	Cytoplasm › cytoskeleton › cilium basal body By similarity. Cytoplasm › cytoskeleton 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 component	Cell projection Cilium Cytoplasm Cytoskeleton Microtubule
Coding sequence diversity	Alternative splicing Polymorphism
Molecular function	Ligase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cellular protein modification process Inferred from electronic annotation. Source: InterPro
Cellular_component	cilium Inferred from electronic annotation. Source: UniProtKB-KW cytoplasm Inferred from electronic annotation. Source: UniProtKB-KW microtubule Inferred from electronic annotation. Source: UniProtKB-KW microtubule basal body Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	tubulin-tyrosine ligase activity Inferred from electronic annotation. Source: InterPro
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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 439	439	Probable tubulin polyglutamylase TTLL9		PRO_0000324517
Regions
	Domain	40 – 380	341	TTL
Natural variations
	Alternative sequence	1 – 50	50	Missing in isoform 2 and isoform 3.		VSP_035765
	Alternative sequence	169 – 191	23	Missing in isoform 3.		VSP_035766
	Alternative sequence	236 – 250	15	VFAEC…HRRQD → YIPLRAWLYRDGFARFSNTR FTLNSIDDQY in isoform 2 and isoform 3.		VSP_035767
	Alternative sequence	270 – 439	170	GCKWT…KKASS → VAPGGQCVPITDSQQPGRL in isoform 3.		VSP_035768
	Alternative sequence	374 – 439	66	LTGRE…KKASS → SLRADSPCW in isoform 2.		VSP_035769
	Natural variant	76	1	Y → C. Corresponds to variant rs17093689 [ dbSNP | Ensembl ].		VAR_039805
Experimental info
	Sequence conflict	274	1	T → M in AAI04026. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 25, 2008. Version 3. Checksum: ED6172FE902F791C	FASTA	439	51,472
	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
	Isoform 2 [UniParc]. Checksum: A39458A3476859A1	FASTA	347	41,501
	10 20 30 40 50 60 MNTLMDVLRH RPGWVEVKDE GEWDFYWCDV SWLRENFDHT YMDEHVRISH FRNHYELTRK 70 80 90 100 110 120 NYMVKNLKRF RKQLEREAGK LEAAKCDFFP KTFEMPCEYH LFVEEFRKNP GITWIMKPVA 130 140 150 160 170 180 RSQGKGIFLF RRLKDIVDWR KDTRSSDDQK DDIPVENYVA QRYIENPYLI GGRKFDLRVY 190 200 210 220 230 240 VLVMSYIPLR AWLYRDGFAR FSNTRFTLNS IDDQYVHLTN VAVQKTSPDY HPKKGCKWTL 250 260 270 280 290 300 QRFRQYLASK HGPEAVETLF RDIDNIFVKS LQSVQKVIIS DKHCFELYGY DILIDQDLKP 310 320 330 340 WLLEVNASPS LTASSQEDYE LKTCLLEDTL HVVDMEARSL RADSPCW
	Isoform 3 [UniParc]. Checksum: 4622BF551667A4FF	FASTA	230	27,588
	10 20 30 40 50 60 MNTLMDVLRH RPGWVEVKDE GEWDFYWCDV SWLRENFDHT YMDEHVRISH FRNHYELTRK 70 80 90 100 110 120 NYMVKNLKRF RKQLEREAGK LEAAKCDFFP KTFEMPCEYH LFVEEFRKNP GITWIMKPDT 130 140 150 160 170 180 RSSDDQKDDI PVENYVAQRY IENPYLIGGR KFDLRVYVLV MSYIPLRAWL YRDGFARFSN 190 200 210 220 230 TRFTLNSIDD QYVHLTNVAV QKTSPDYHPK KVAPGGQCVP ITDSQQPGRL

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. , 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]	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. , 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.
IPI	IPI00478718. IPI00651746. IPI00651762.
RefSeq	NP_001008409.1. NM_001008409.2.
UniGene	Hs.712915.
3D structure databases
ProteinModelPortal	Q3SXZ7.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000365105.
Polymorphism databases
DMDM	215274204.
Proteomic databases
PaxDb	Q3SXZ7.
PRIDE	Q3SXZ7.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000310998; ENSP00000308980; ENSG00000131044. ENST00000375921; ENSP00000365086; ENSG00000131044. ENST00000375938; ENSP00000365105; ENSG00000131044. ENST00000535842; ENSP00000442515; ENSG00000131044.
GeneID	164395.
KEGG	hsa:164395.
UCSC	uc010gdx.1. human.
Organism-specific databases
CTD	164395.
GeneCards	GC20P030458.
HGNC	HGNC:16118. TTLL9.
HPA	HPA041772.
neXtProt	NX_Q3SXZ7.
PharmGKB	PA25666.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG311148.
HOVERGEN	HBG066341.
KO	K16603.
OrthoDB	EOG4868CC.
Gene expression databases
ArrayExpress	Q3SXZ7.
Bgee	Q3SXZ7.
CleanEx	HS_TTLL9.
Genevestigator	Q3SXZ7.
Family and domain databases
InterPro	IPR004344. Tub_tyr_ligase. [Graphical view]
Pfam	PF03133. TTL. 1 hit. [Graphical view]
PROSITE	PS51221. TTL. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	164395.
NextBio	88466.

Entry information

Entry name

TTLL9_HUMAN

Accession

Primary (citable) accession number: Q3SXZ7
Secondary accession number(s): A6NH06 , A6NIS5, B3KSG8, Q3SXZ8, Q5JYS3, Q5JYS4

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 18, 2008
Last sequence update:	November 25, 2008
Last modified:	April 3, 2013
This is version 63 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.