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Protein

Probable tubulin polyglutamylase TTLL2

Gene

TTLL2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Protein uncertaini

Functioni

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

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei253 – 2531ATPBy similarity
Binding sitei255 – 2551ATPBy similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi240 – 2434ATP bindingBy similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Ligase

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Probable tubulin polyglutamylase TTLL2 (EC:6.-.-.-)
Alternative name(s):
Testis-specific protein NYD-TSPG
Tubulin--tyrosine ligase-like protein 2
Gene namesi
Name:TTLL2
Synonyms:C6orf104
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:21211. TTLL2.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134888799.

Polymorphism and mutation databases

BioMutaiTTLL2.
DMDMi313104264.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 592592Probable tubulin polyglutamylase TTLL2PRO_0000212440Add
BLAST

Proteomic databases

PaxDbiQ9BWV7.
PRIDEiQ9BWV7.

PTM databases

iPTMnetiQ9BWV7.
PhosphoSiteiQ9BWV7.

Expressioni

Tissue specificityi

Testis.

Gene expression databases

BgeeiQ9BWV7.
CleanExiHS_TTLL2.
ExpressionAtlasiQ9BWV7. baseline and differential.
GenevisibleiQ9BWV7. HS.

Organism-specific databases

HPAiHPA027985.

Interactioni

Protein-protein interaction databases

BioGridi123798. 1 interaction.
STRINGi9606.ENSP00000239587.

Structurei

3D structure databases

ProteinModelPortaliQ9BWV7.
SMRiQ9BWV7. Positions 98-425.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini84 – 427344TTLPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiKOG2157. Eukaryota.
ENOG410XQDM. LUCA.
GeneTreeiENSGT00760000118951.
HOGENOMiHOG000119224.
HOVERGENiHBG079287.
InParanoidiQ9BWV7.
KOiK16600.
OMAiICKPAEL.
OrthoDBiEOG7K6PTT.
PhylomeDBiQ9BWV7.
TreeFamiTF313087.

Family and domain databases

InterProiIPR004344. TTL/TTLL_fam.
IPR028330. TTLL2.
[Graphical view]
PANTHERiPTHR12241:SF11. PTHR12241:SF11. 2 hits.
PfamiPF03133. TTL. 1 hit.
[Graphical view]
PROSITEiPS51221. TTL. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9BWV7-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MRGRDLCSST QSQALGSLRT TTPAFTLNIP SEANHTEQPP AGLGARLQEA
60 70 80 90 100
GVSIPPRRGR PTPTLEKKKK PHLMAEDEPS GALLKPLVFR VDETTPAVVQ
110 120 130 140 150
SVLLERGWNK FDKQEQNAED WNLYWRTSSF RMTEHNSVKP WQQLNHHPGT
160 170 180 190 200
TKLTRKDCLA KHLKHMRRMY GTSLYQFIPL TFVMPNDYTK FVAEYFQERQ
210 220 230 240 250
MLGTKHSYWI CKPAELSRGR GILIFSDFKD FIFDDMYIVQ KYISNPLLIG
260 270 280 290 300
RYKCDLRIYV CVTGFKPLTI YVYQEGLVRF ATEKFDLSNL QNNYAHLTNS
310 320 330 340 350
SINKSGASYE KIKEVIGHGC KWTLSRFFSY LRSWDVDDLL LWKKIHRMVI
360 370 380 390 400
LTILAIAPSV PFAANCFELF GFDILIDDNL KPWLLEVNYS PALTLDCSTD
410 420 430 440 450
VLVKRKLVHD IIDLIYLNGL RNEGREASNA THGNSNIDAA KSDRGGLDAP
460 470 480 490 500
DCLPYDSLSF TSRMYNEDDS VVEKAVSVRP EAAPASQLEG EMSGQDFHLS
510 520 530 540 550
TREMPQSKPK LRSRHTPHKT LMPYASLFQS HSCKTKTSPC VLSDRGKAPD
560 570 580 590
PQAGNFVLVF PFNEATLGAS RNGLNVKRII QELQKLMNKQ HS
Length:592
Mass (Da):67,336
Last modified:November 30, 2010 - v3
Checksum:i43F7741950AFE70D
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti377 – 3771D → N in AAK20169 (Ref. 1) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti3 – 31G → R.
Corresponds to variant rs12526094 [ dbSNP | Ensembl ].
VAR_028119
Natural varianti63 – 631P → S.
Corresponds to variant rs34350976 [ dbSNP | Ensembl ].
VAR_057312
Natural varianti127 – 1271T → A.1 Publication
Corresponds to variant rs11540664 [ dbSNP | Ensembl ].
VAR_028120
Natural varianti202 – 2021L → P.
Corresponds to variant rs6936639 [ dbSNP | Ensembl ].
VAR_028121
Natural varianti356 – 3561I → V.
Corresponds to variant rs34286114 [ dbSNP | Ensembl ].
VAR_057313
Natural varianti425 – 4251R → G.4 Publications
Corresponds to variant rs909545 [ dbSNP | Ensembl ].
VAR_028122
Natural varianti441 – 4411K → T.
Corresponds to variant rs41266331 [ dbSNP | Ensembl ].
VAR_061866
Natural varianti445 – 4451G → S.
Corresponds to variant rs9457304 [ dbSNP | Ensembl ].
VAR_028123
Natural varianti529 – 5291Q → H.
Corresponds to variant rs12528714 [ dbSNP | Ensembl ].
VAR_028124
Natural varianti559 – 5591V → I.
Corresponds to variant rs34931196 [ dbSNP | Ensembl ].
VAR_057314

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY026506 mRNA. Translation: AAK20169.1.
AK093039 mRNA. Translation: BAG52639.1.
AK314450 mRNA. Translation: BAG37058.1.
AL021331 Genomic DNA. Translation: CAD92564.1.
CH471051 Genomic DNA. Translation: EAW47498.1.
BC030650 mRNA. Translation: AAH30650.1.
BC047411 mRNA. Translation: AAH47411.1.
CCDSiCCDS5301.1.
RefSeqiNP_114155.4. NM_031949.4.
UniGeneiHs.520554.

Genome annotation databases

EnsembliENST00000239587; ENSP00000239587; ENSG00000120440.
ENST00000515138; ENSP00000424130; ENSG00000120440.
GeneIDi83887.
KEGGihsa:83887.
UCSCiuc003qvs.2. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY026506 mRNA. Translation: AAK20169.1.
AK093039 mRNA. Translation: BAG52639.1.
AK314450 mRNA. Translation: BAG37058.1.
AL021331 Genomic DNA. Translation: CAD92564.1.
CH471051 Genomic DNA. Translation: EAW47498.1.
BC030650 mRNA. Translation: AAH30650.1.
BC047411 mRNA. Translation: AAH47411.1.
CCDSiCCDS5301.1.
RefSeqiNP_114155.4. NM_031949.4.
UniGeneiHs.520554.

3D structure databases

ProteinModelPortaliQ9BWV7.
SMRiQ9BWV7. Positions 98-425.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123798. 1 interaction.
STRINGi9606.ENSP00000239587.

PTM databases

iPTMnetiQ9BWV7.
PhosphoSiteiQ9BWV7.

Polymorphism and mutation databases

BioMutaiTTLL2.
DMDMi313104264.

Proteomic databases

PaxDbiQ9BWV7.
PRIDEiQ9BWV7.

Protocols and materials databases

DNASUi83887.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000239587; ENSP00000239587; ENSG00000120440.
ENST00000515138; ENSP00000424130; ENSG00000120440.
GeneIDi83887.
KEGGihsa:83887.
UCSCiuc003qvs.2. human.

Organism-specific databases

CTDi83887.
GeneCardsiTTLL2.
HGNCiHGNC:21211. TTLL2.
HPAiHPA027985.
neXtProtiNX_Q9BWV7.
PharmGKBiPA134888799.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2157. Eukaryota.
ENOG410XQDM. LUCA.
GeneTreeiENSGT00760000118951.
HOGENOMiHOG000119224.
HOVERGENiHBG079287.
InParanoidiQ9BWV7.
KOiK16600.
OMAiICKPAEL.
OrthoDBiEOG7K6PTT.
PhylomeDBiQ9BWV7.
TreeFamiTF313087.

Miscellaneous databases

GenomeRNAii83887.
PROiQ9BWV7.

Gene expression databases

BgeeiQ9BWV7.
CleanExiHS_TTLL2.
ExpressionAtlasiQ9BWV7. baseline and differential.
GenevisibleiQ9BWV7. HS.

Family and domain databases

InterProiIPR004344. TTL/TTLL_fam.
IPR028330. TTLL2.
[Graphical view]
PANTHERiPTHR12241:SF11. PTHR12241:SF11. 2 hits.
PfamiPF03133. TTL. 1 hit.
[Graphical view]
PROSITEiPS51221. TTL. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning of a novel testis specific gene from human testes."
    Sha J.H.
    Submitted (JAN-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT GLY-425.
    Tissue: Testis.
  2. "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], VARIANT GLY-425.
    Tissue: Testis.
  3. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT GLY-425.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "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], VARIANTS ALA-127 AND GLY-425.
    Tissue: Testis.

Entry informationi

Entry nameiTTLL2_HUMAN
AccessioniPrimary (citable) accession number: Q9BWV7
Secondary accession number(s): B2RB11
, B3KS77, Q7Z6R8, Q86X22
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 10, 2004
Last sequence update: November 30, 2010
Last modified: June 8, 2016
This is version 108 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

Caution

Product of a dubious CDS prediction. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: 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

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.