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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

      See identical proteins and their annotated locations for NP_714923.1

      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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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