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FLASH GENE
Symbol TTL contributors: - updated : 30-01-2006
HGNC name tubululin-tyrosine ligase
HGNC id 21586
Location 2q13      Physical location : 113.239.742 - 113.290.218
Synonym symbol(s) MGC46235
EC.number 6.3.2.25
DNA
TYPE functioning gene
STRUCTURE 48.00 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter (CAAT box) (TATA box)
MAPPING cloned Y linked N status provisional
Physical map
LOC391426 2 similar to ENSANGP00000004103 ANAPC1 2q12.1 anaphase-promoting complex 1 (meiotic checkpoint regulator) MERTK 2q14.1 c-mer proto-oncogene tyrosine kinase FLJ14681 2q13 hypothetical protein FLJ14681 FLJ37440 2q13 hypothetical protein FLJ37440 LOC84524 2q13 zinc finger protein FLJ41410 2q13 FLJ41410 protein LOC389020 2 similar to RAN-binding protein 2-like 1 isoform 1; sperm membrane protein BS-63; RAN-binding protein 2-like 1 TTL 2q13 similar to RAN-binding protein 2-like 1 isoform 1; sperm membrane protein BS-63; RAN-binding protein 2-like 1 POLR1B 2q13 polymerase (RNA)1polypeptide B, 128kDa C2orf9 2q13 chromosome 2 open reading frame 9 SLC20A1 2q11-q14 solute carrier family 20 (phosphate transporter), member 1 FLJ40629 2q14.1 hypothetical protein FLJ40629 IL1A 2q13 interleukin 1, alpha IL1B 2q13 interleukin 1, beta IL1F7 2q12.1-q14.1 interleukin 1 family, member 7 (zeta) IL1F9 2q13 interleukin 1 family, member 9 IL1F6 2q12-q14.1 interleukin 1 family, member 6 (epsilon) IL1F8 2q12-q14.1 interleukin 1 family, member 8 (eta) IL1F5 2q12.1 interleukin 1 family, member 5 (delta) IL1F10 2q12 interleukin 1 family, member 10 (theta) IL1RN 2q13-q14.2 interleukin 1 receptor antagonist TIC 2q13 interleukin 1 receptor antagonist PAX8 2q12-q14 paired box gene 8 LOC391427 2 similar to Ig kappa chain precursor V region (orphon V108) - human (fragment) CBWD2 2q13 COBW domain containing 2 FOXD4L1 2q13 COBW domain containing 2 LOC284964 2q14.1 similar to bA395L14.5 (novel phosphoglucomutase like protein) LOC389021 2 hypothetical gene supported by BC063555 MGC13005 2q14.1 hypothetical protein MGC13005 RPL23AP7 2q14 ribosomal protein L23a pseudogene 7 RABL2A 2q13 RAB, member of RAS oncogene family-like 2A bA395L14.12 2q14.1 u2 small nuclear ribonucleoprotein polypeptide A' pseudogene bA395L14.13 2q14.1 acrosin-like protease
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticspleen    
 thymus    
Nervousbrain    
Respiratorylung    
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
cells
SystemCellPubmedSpeciesStageRna symbol
Lymhoid/ImmuneT cell null
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • conserved amino acids that form an ATP-Mg(2+)-binding site
  • one TTL domain
    • mono polymer monomer
    HOMOLOGY
    interspecies ortholog to murine Ttl
    ortholog to rattus ttl
    ortholog to chicken ttl
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • involved in the post-translational modification of tubulin
  • catalyzing the post-translational addition of a tyrosine to the c-terminal end of detyrosinated alpha-tubulin
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Mg2+
  • K+
    • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       loss of function
    in breast cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS