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TTL tubulin tyrosine ligase [ Homo sapiens (human) ]

Gene ID: 150465, updated on 27-Nov-2024

Summary

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Official Symbol
TTLprovided by HGNC
Official Full Name
tubulin tyrosine ligaseprovided by HGNC
Primary source
HGNC:HGNC:21586
See related
Ensembl:ENSG00000114999 MIM:608291; AllianceGenome:HGNC:21586
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
TTL is a cytosolic enzyme involved in the posttranslational modification of alpha-tubulin (see MIM 602529). Alpha-tubulin within assembled microtubules is detyrosinated over time at the C terminus. After microtubule disassembly, TTL restores the tyrosine residues and consequently participates in a cycle of tubulin detyrosination and tyrosination (Erck et al., 2003 [PubMed 14571137]).[supplied by OMIM, Mar 2008]
Expression
Ubiquitous expression in brain (RPKM 13.3), lung (RPKM 7.4) and 24 other tissues See more
Orthologs
mouse all
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Genomic context

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See TTL in Genome Data Viewer
Location:
2q14.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (112482156..112541739)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (112908795..112968389)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (113239733..113299316)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124906067 Neighboring gene RANBP2 like and GRIP domain containing 8 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:113191810-113192788 Neighboring gene vinculin/alpha-catenin family member 1, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16392 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11872 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11873 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11874 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:113286172-113286672 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:113286673-113287173 Neighboring gene uncharacterized LOC105373562 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16393 Neighboring gene uncharacterized LOC124907870 Neighboring gene MPRA-validated peak3820 silencer Neighboring gene RNA polymerase I subunit B Neighboring gene Sharpr-MPRA regulatory region 15338 Neighboring gene uncharacterized LOC101927330 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:113341395-113342594 Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 5

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Tubulin detyrosination is a frequent occurrence in breast cancers of poor prognosis. Mialhe A, et al. Cancer Res, 2001 Jul 1. PMID 11431336
  2. Cloning and genomic organization of the TTL gene on mouse chromosome 2 and human chromosome 2q13. Erck C, et al. Cytogenet Genome Res, 2003. PMID 14571137
  3. Mitosis. Microtubule detyrosination guides chromosomes during mitosis. Barisic M, et al. Science, 2015 May 15. PMID 25908662, Free PMC Article
  4. Characterization of the tubulin-tyrosine ligase. Ersfeld K, et al. J Cell Biol, 1993 Feb. PMID 8093886, Free PMC Article
  5. Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts. Dick DM, et al. Am J Med Genet B Neuropsychiatr Genet, 2010 Sep. PMID 20468071, Free PMC Article

See all (20) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC46235

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables tubulin-tyrosine ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables tubulin-tyrosine ligase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in microtubule cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in post-translational protein modification IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of axon extension IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of metaphase plate congression IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in spindle microtubule IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in spindle microtubule IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
tubulin--tyrosine ligase
Names
2410003M22Rik
NP_001358641.1
NP_714923.1
XP_005263656.1
XP_011508967.1
XP_054196623.1
XP_054196624.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001371712.1 → NP_001358641.1  tubulin--tyrosine ligase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC012442
    Conserved Domains (1) summary
    pfam03133
    Location:81 → 347
    TTL; Tubulin-tyrosine ligase family

  2. NM_153712.5 → NP_714923.1  tubulin--tyrosine ligase isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC012442
    Consensus CDS
    CCDS2096.1
    UniProtKB/Swiss-Prot
    Q585T3, Q7Z302, Q8N426, Q8NG68
    Related
    ENSP00000233336.5, ENST00000233336.7
    Conserved Domains (1) summary
    pfam03133
    Location:81 → 367
    TTL; Tubulin-tyrosine ligase family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    112482156..112541739
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510665.3 → XP_011508967.1  tubulin--tyrosine ligase isoform X2

    Conserved Domains (1) summary
    cl17255
    Location:81 → 294
    CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain

  2. XM_005263599.4 → XP_005263656.1  tubulin--tyrosine ligase isoform X1

    Conserved Domains (1) summary
    pfam03133
    Location:81 → 343
    TTL; Tubulin-tyrosine ligase family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    112908795..112968389
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054340649.1 → XP_054196624.1  tubulin--tyrosine ligase isoform X2

  2. XM_054340648.1 → XP_054196623.1  tubulin--tyrosine ligase isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NG68.2 GenPept UniProtKB/Swiss-Prot:Q8NG68

Gene LinkOut

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