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TTL tubulin tyrosine ligase [ Homo sapiens (human) ]

Gene ID: 150465, updated on 4-Jun-2020

Summary

Official Symbol
TTLprovided by HGNC
Official Full Name
tubulin tyrosine ligaseprovided by HGNC
Primary source
HGNC:HGNC:21586
See related
Ensembl:ENSG00000114999 MIM:608291
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

Genomic context

See TTL in Genome Data Viewer
Location:
2q14.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (112482127..112541739)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (113239743..113290223)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene axin 2 pseudogene Neighboring gene RANBP2 like and GRIP domain containing 8 Neighboring gene uncharacterized LOC105373562 Neighboring gene RNA polymerase I subunit B Neighboring gene uncharacterized LOC101927330 Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 5

Genomic regions, transcripts, and products

Expression

  • 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC46235

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
tubulin-tyrosine ligase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
C-terminal protein-tyrosinylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
microtubule cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
positive regulation of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of axon extension IEA
Inferred from Electronic Annotation
more info
 
regulation of metaphase plate congression IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001371712.1NP_001358641.1  tubulin--tyrosine ligase isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC012442
  2. NM_153712.5NP_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
    Q8NG68
    Related
    ENSP00000233336.5, ENST00000233336.7
    Conserved Domains (1) summary
    pfam03133
    Location:81367
    TTL; Tubulin-tyrosine ligase family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    112482127..112541739
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005263599.3XP_005263656.1  tubulin--tyrosine ligase isoform X1

    Conserved Domains (1) summary
    pfam03133
    Location:81343
    TTL; Tubulin-tyrosine ligase family
  2. XM_011510665.2XP_011508967.1  tubulin--tyrosine ligase isoform X2

    Conserved Domains (1) summary
    cl17255
    Location:81294
    CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain
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