Human Gene TTLL1 (ENST00000266254.12_7) from GENCODE V47lift37
  Description: TTL family tubulin polyglutamylase complex subunit L1, transcript variant 1 (from RefSeq NM_012263.5)
Gencode Transcript: ENST00000266254.12_7
Gencode Gene: ENSG00000100271.17_9
Transcript (Including UTRs)
   Position: hg19 chr22:43,435,522-43,485,397 Size: 49,876 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr22:43,435,782-43,471,592 Size: 35,811 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:43,435,522-43,485,397)mRNA (may differ from genome)Protein (423 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TTLL1_HUMAN
DESCRIPTION: RecName: Full=Probable tubulin polyglutamylase TTLL1; EC=6.-.-.-; AltName: Full=Tubulin polyglutamylase complex subunit 3; Short=PGs3; AltName: Full=Tubulin--tyrosine ligase-like protein 1;
FUNCTION: Catalytic subunit of the neuronal tubulin polyglutamylase complex. Modifies alpha- and beta-tubulin, generating side chains of glutamate on the gamma-carboxyl groups of specific glutamate residues within the C-terminal tail of alpha- and beta-tubulin (By similarity).
SUBUNIT: Part of the neuronal tubulin polyglutamylase complex which contains TPGS1, TPGS2, TTLL1, LRRC49 and NICN1 (By similarity).
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton (Probable).
TISSUE SPECIFICITY: Expressed in a wide range of tissues. Has a stronger expression in heart, brain and testis.
SIMILARITY: Belongs to the tubulin polyglutamylase family.
SIMILARITY: Contains 1 TTL domain.
SEQUENCE CAUTION: Sequence=CAB51423.1; Type=Erroneous translation; Note=Wrong choice of CDS;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.30 RPKM in Testis
Total median expression: 231.75 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -95.60204-0.469 Picture PostScript Text
3' UTR -41.10260-0.158 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013816 - ATP_grasp_subdomain_2
IPR004344 - Tub_tyr_ligase

Pfam Domains:
PF03133 - Tubulin-tyrosine ligase family

SCOP Domains:
56059 - Glutathione synthetase ATP-binding domain-like

ModBase Predicted Comparative 3D Structure on O95922
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005524 ATP binding
GO:0016874 ligase activity
GO:0070740 tubulin-glutamic acid ligase activity

Biological Process:
GO:0003351 epithelial cilium movement
GO:0006464 cellular protein modification process
GO:0007288 sperm axoneme assembly
GO:0018095 protein polyglutamylation
GO:0035082 axoneme assembly
GO:1905419 sperm flagellum movement involved in flagellated sperm motility

Cellular Component:
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005874 microtubule


-  Descriptions from all associated GenBank mRNAs
  AL096883 - Novel human gene mapping to chomosome 22.
AL096886 - Novel human gene mapping to chomosome 22.
AF104927 - Homo sapiens tubulin-tyrosine ligase (TTLL1) mRNA, complete cds.
AF173935 - Homo sapiens tubulin tyrosine ligase-like 1 truncated peptide (TTLL1) mRNA, complete cds, alternatively spliced.
BC009058 - Homo sapiens cDNA clone IMAGE:3870517, containing frame-shift errors.
BC014968 - Homo sapiens tubulin tyrosine ligase-like family, member 1, mRNA (cDNA clone MGC:23088 IMAGE:4876418), complete cds.
AL136687 - Homo sapiens mRNA; cDNA DKFZp564G1978 (from clone DKFZp564G1978).
AK095996 - Homo sapiens cDNA FLJ38677 fis, clone IMR322000555, highly similar to Tubulin--tyrosine ligase-like protein 1.
CR456599 - Homo sapiens TTLL1 full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.TTLL1.V4).
JD433435 - Sequence 414459 from Patent EP1572962.
JD350625 - Sequence 331649 from Patent EP1572962.
AL589867 - Novel human mRNA from chromosome 22. Splice variant of TTLL1.
CU013199 - Homo sapiens TTLL1, mRNA (cDNA clone IMAGE:100000552), complete cds, with stop codon, in Gateway system.
DQ892198 - Synthetic construct clone IMAGE:100004828; FLH183964.01X; RZPDo839A09144D tubulin tyrosine ligase-like family, member 1 (TTLL1) gene, encodes complete protein.
AK315658 - Homo sapiens cDNA, FLJ96749, Homo sapiens tubulin tyrosine ligase-like family, member 1 (TTLL1),mRNA.
KJ893466 - Synthetic construct Homo sapiens clone ccsbBroadEn_02860 TTLL1 gene, encodes complete protein.
DQ895393 - Synthetic construct Homo sapiens clone IMAGE:100009853; FLH183960.01L; RZPDo839A09143D tubulin tyrosine ligase-like family, member 1 (TTLL1) gene, encodes complete protein.
CU013487 - Homo sapiens TTLL1, mRNA (cDNA clone IMAGE:100000456), complete cds, without stop codon, in Gateway system.
AB528269 - Synthetic construct DNA, clone: pF1KE0547, Homo sapiens TTLL1 gene for tubulin tyrosine ligase-like family, member 1, without stop codon, in Flexi system.
CU677143 - Synthetic construct Homo sapiens gateway clone IMAGE:100017649 5' read TTLL1 mRNA.
JD161098 - Sequence 142122 from Patent EP1572962.
JD461637 - Sequence 442661 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O95922 (Reactome details) participates in the following event(s):

R-HSA-8955869 Polyglutamylase complex (TTLL1) polyglutamylates alpha subunits of tubulin
R-HSA-8955332 Carboxyterminal post-translational modifications of tubulin
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: B2RDS7, C22orf7, ENST00000266254.1, ENST00000266254.10, ENST00000266254.11, ENST00000266254.2, ENST00000266254.3, ENST00000266254.4, ENST00000266254.5, ENST00000266254.6, ENST00000266254.7, ENST00000266254.8, ENST00000266254.9, NM_012263, O95922, Q9BR27, Q9NRS9, Q9UMU0, TTLL1 , TTLL1_HUMAN, uc317igq.1, uc317igq.2
UCSC ID: ENST00000266254.12_7
RefSeq Accession: NM_012263.5
Protein: O95922 (aka TTLL1_HUMAN or TTL1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.