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Aliases for TTLL5 Gene

Aliases for TTLL5 Gene

  • Tubulin Tyrosine Ligase Like 5 2 3 5
  • KIAA0998 2 3 4
  • Tubulin Tyrosine Ligase-Like Family Member 5 2 3
  • SRC1 And TIF2-Associated Modulatory Protein 3 4
  • STAMP 3 4
  • Tubulin Tyrosine Ligase-Like Family, Member 5 3
  • SRC1 And TIF2 Associated Binding Protein 3
  • Tubulin--Tyrosine Ligase-Like Protein 5 4
  • EC 6.-.-.- 4
  • CORD19 3

External Ids for TTLL5 Gene

Previous HGNC Symbols for TTLL5 Gene

  • KIAA0998

Previous GeneCards Identifiers for TTLL5 Gene

  • GC14P075198
  • GC14P076127
  • GC14P056295

Summaries for TTLL5 Gene

Entrez Gene Summary for TTLL5 Gene

  • This gene encodes a member of the tubulin tyrosine ligase like protein family. This protein interacts with two glucocorticoid receptor coactivators, transcriptional intermediary factor 2 and steroid receptor coactivator 1. This protein may function as a coregulator of glucocorticoid receptor mediated gene induction and repression. This protein may also function as an alpha tubulin polyglutamylase.[provided by RefSeq, Feb 2010]

GeneCards Summary for TTLL5 Gene

TTLL5 (Tubulin Tyrosine Ligase Like 5) is a Protein Coding gene. Diseases associated with TTLL5 include Cone-Rod Dystrophy 19 and Retinitis Pigmentosa. GO annotations related to this gene include ligase activity. An important paralog of this gene is TTLL8.

UniProtKB/Swiss-Prot for TTLL5 Gene

  • Polyglutamylase which preferentially modifies alpha-tubulin. Involved in the side-chain initiation step of the polyglutamylation reaction rather than in the elongation step (By similarity). Required for CCSAP localization to both spindle and cilia microtubules. Increases the effects of NCOA2 in glucocorticoid receptor-mediated repression and induction and in androgen receptor-mediated induction (PubMed:17116691, PubMed:22493317).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TTLL5 Gene

Genomics for TTLL5 Gene

Regulatory Elements for TTLL5 Gene

Enhancers for TTLL5 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TTLL5 on UCSC Golden Path with GeneCards custom track

Genomic Location for TTLL5 Gene

Chromosome:
14
Start:
75,633,625 bp from pter
End:
75,955,082 bp from pter
Size:
321,458 bases
Orientation:
Plus strand

Genomic View for TTLL5 Gene

Genes around TTLL5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TTLL5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TTLL5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TTLL5 Gene

Proteins for TTLL5 Gene

  • Protein details for TTLL5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6EMB2-TTLL5_HUMAN
    Recommended name:
    Tubulin polyglutamylase TTLL5
    Protein Accession:
    Q6EMB2
    Secondary Accessions:
    • B9EGH8
    • B9EGH9
    • Q9BUB0
    • Q9H0G4
    • Q9H7W2
    • Q9P1V5
    • Q9UPZ4

    Protein attributes for TTLL5 Gene

    Size:
    1281 amino acids
    Molecular mass:
    143577 Da
    Quaternary structure:
    • Interacts with the transcriptional coactivators NCOA1/SRC-1 and NCOA2/TIF2.
    SequenceCaution:
    • Sequence=AAF23275.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAP75557.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for TTLL5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TTLL5 Gene

Proteomics data for TTLL5 Gene at MOPED

Post-translational modifications for TTLL5 Gene

  • Ubiquitination at Lys 1159
  • Modification sites at PhosphoSitePlus

Other Protein References for TTLL5 Gene

No data available for DME Specific Peptides for TTLL5 Gene

Domains & Families for TTLL5 Gene

Gene Families for TTLL5 Gene

Protein Domains for TTLL5 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TTLL5 Gene

Graphical View of Domain Structure for InterPro Entry

Q6EMB2

UniProtKB/Swiss-Prot:

TTLL5_HUMAN :
  • The flexible c-MTBD (cationic microtubule binding domain) region mediates binding to microtubules. It is positively charged and becomes ordered when bound to microtubules: it interacts with a negatively charged patch on tubulin. The presence of positive charges in the c-MTBD region is essential for proper binding.
  • Belongs to the tubulin--tyrosine ligase family.
Domain:
  • The flexible c-MTBD (cationic microtubule binding domain) region mediates binding to microtubules. It is positively charged and becomes ordered when bound to microtubules: it interacts with a negatively charged patch on tubulin. The presence of positive charges in the c-MTBD region is essential for proper binding.
  • Contains 1 TTL domain.
Family:
  • Belongs to the tubulin--tyrosine ligase family.
genes like me logo Genes that share domains with TTLL5: view

Function for TTLL5 Gene

Molecular function for TTLL5 Gene

UniProtKB/Swiss-Prot Function:
Polyglutamylase which preferentially modifies alpha-tubulin. Involved in the side-chain initiation step of the polyglutamylation reaction rather than in the elongation step (By similarity). Required for CCSAP localization to both spindle and cilia microtubules. Increases the effects of NCOA2 in glucocorticoid receptor-mediated repression and induction and in androgen receptor-mediated induction (PubMed:17116691, PubMed:22493317).

Enzyme Numbers (IUBMB) for TTLL5 Gene

genes like me logo Genes that share phenotypes with TTLL5: view

Human Phenotype Ontology for TTLL5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for TTLL5

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for TTLL5 Gene

Localization for TTLL5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TTLL5 Gene

Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Nucleus. Cytoplasm. Note=Localized to the base of the connecting cilium between the basal body and the adjacent daughter centriole of the cilium. In osteosarcoma cells, found in both cytoplasm and nucleus in the absence of steroid but located exclusively in the nucleus in the presence of steroid. {ECO:0000250 UniProtKB:Q8CHB8, ECO:0000269 PubMed:24791901}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TTLL5 Gene COMPARTMENTS Subcellular localization image for TTLL5 gene
Compartment Confidence
cytoskeleton 5
nucleus 4
cytosol 3
plasma membrane 2

Gene Ontology (GO) - Cellular Components for TTLL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with TTLL5: view

Pathways & Interactions for TTLL5 Gene

SuperPathways for TTLL5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TTLL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006464 cellular protein modification process IEA --
GO:0007283 spermatogenesis IEA --
GO:0009566 fertilization IEA --
genes like me logo Genes that share ontologies with TTLL5: view

No data available for Pathways by source and SIGNOR curated interactions for TTLL5 Gene

Drugs & Compounds for TTLL5 Gene

No Compound Related Data Available

Transcripts for TTLL5 Gene

mRNA/cDNA for TTLL5 Gene

(1) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(22) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TTLL5 Gene

Tubulin tyrosine ligase-like family, member 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TTLL5 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^
SP1: - - - - -
SP2: - - - -
SP3:
SP4: - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

ExUns: 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34a · 34b ^ 35 ^ 36 ^ 37 ^ 38a · 38b ^ 39a · 39b · 39c · 39d
SP1: - - - - -
SP2: -
SP3: -
SP4:
SP5: - - -
SP6: -
SP7: - - - -
SP8: -
SP9:
SP10:
SP11:

Relevant External Links for TTLL5 Gene

GeneLoc Exon Structure for
TTLL5
ECgene alternative splicing isoforms for
TTLL5

Expression for TTLL5 Gene

mRNA expression in normal human tissues for TTLL5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TTLL5 Gene

This gene is overexpressed in Testis (x5.4).

Protein differential expression in normal tissues from HIPED for TTLL5 Gene

This gene is overexpressed in Liver (33.1), Cerebrospinal fluid (21.0), and Bone marrow mesenchymal stem cell (10.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TTLL5 Gene



SOURCE GeneReport for Unigene cluster for TTLL5 Gene Hs.709609

mRNA Expression by UniProt/SwissProt for TTLL5 Gene

Q6EMB2-TTLL5_HUMAN
Tissue specificity: Expressed in the retina, found in the rod and cone photoreceptors (at protein level). Widely expressed with highest levels in heart and skeletal muscle and low levels in other tissues.
genes like me logo Genes that share expression patterns with TTLL5: view

Protein tissue co-expression partners for TTLL5 Gene

Primer Products

Orthologs for TTLL5 Gene

This gene was present in the common ancestor of animals.

Orthologs for TTLL5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TTLL5 35
  • 91.38 (n)
  • 92.37 (a)
TTLL5 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TTLL5 35
  • 91.14 (n)
  • 92.69 (a)
TTLL5 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ttll5 35
  • 88.08 (n)
  • 89.13 (a)
Ttll5 16
Ttll5 36
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TTLL5 35
  • 98.6 (n)
  • 97.76 (a)
TTLL5 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ttll5 35
  • 88.11 (n)
  • 89.13 (a)
oppossum
(Monodelphis domestica)
Mammalia TTLL5 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TTLL5 36
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves TTLL5 35
  • 66.03 (n)
  • 63.42 (a)
TTLL5 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TTLL5 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ttll5 35
  • 49.12 (n)
  • 40.91 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100538301 35
  • 71.38 (n)
  • 77.84 (a)
TTLL5 36
  • 75 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG31108 36
  • 32 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ttll-5 36
  • 30 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 60 (a)
OneToOne
Species with no ortholog for TTLL5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TTLL5 Gene

ENSEMBL:
Gene Tree for TTLL5 (if available)
TreeFam:
Gene Tree for TTLL5 (if available)

Paralogs for TTLL5 Gene

(5) SIMAP similar genes for TTLL5 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with TTLL5: view

Variants for TTLL5 Gene

Sequence variations from dbSNP and Humsavar for TTLL5 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs2303345 - 75,690,266(+) CAAGG(C/T)TTTTC reference, missense
rs17856074 - 75,707,041(+) GAAGA(A/C/G)AACAT reference, missense
rs11848004 - 75,766,127(+) AAGTC(A/G)CATTA reference, missense
rs10130991 - 75,882,829(+) CTTGC(A/G/T)CCTCC reference, missense
rs11844617 - 75,882,853(+) CCCCA(A/C/T)CCAAC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TTLL5 Gene

Variant ID Type Subtype PubMed ID
nsv524538 CNV Gain 19592680
nsv902100 CNV Loss 21882294
esv2748875 CNV Deletion 23290073
nsv1358 CNV Insertion 18451855
nsv1359 CNV Loss 18451855
nsv518383 CNV Loss 19592680
esv2664273 CNV Deletion 23128226
nsv438263 CNV Loss 16468122
esv2491325 CNV Deletion 19546169
esv2386292 CNV Deletion 18987734
esv2659565 CNV Deletion 23128226
nsv902101 CNV Loss 21882294

Variation tolerance for TTLL5 Gene

Residual Variation Intolerance Score: 38.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.85; 97.40% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TTLL5 Gene

Human Gene Mutation Database (HGMD)
TTLL5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTLL5 Gene

Disorders for TTLL5 Gene

MalaCards: The human disease database

(3) MalaCards diseases for TTLL5 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
cone-rod dystrophy 19
  • cord19
retinitis pigmentosa
  • retinitis pigmentosa 1
cone-rod dystrophy
  • cone-rod dystrophy 5
- elite association - COSMIC cancer census association via MalaCards
Search TTLL5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TTLL5_HUMAN
  • Cone-rod dystrophy 19 (CORD19) [MIM:615860]: A form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. {ECO:0000269 PubMed:24791901}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TTLL5

Genetic Association Database (GAD)
TTLL5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TTLL5
genes like me logo Genes that share disorders with TTLL5: view

No data available for Genatlas for TTLL5 Gene

Publications for TTLL5 Gene

  1. Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy. (PMID: 24791901) Sergouniotis P.I. … Plagnol V. (Am. J. Hum. Genet. 2014) 3 4 67
  2. Tubulin polyglutamylase enzymes are members of the TTL domain protein family. (PMID: 15890843) Janke C. … Edde B. (Science 2005) 2 3
  3. Proximity biotinylation and affinity purification are complementary approaches for the interactome mapping of chromatin-associated protein complexes. (PMID: 25281560) Lambert J.P. … Gingras A.C. (J Proteomics 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3

Products for TTLL5 Gene

Sources for TTLL5 Gene

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