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Aliases for TTLL5 Gene

Aliases for TTLL5 Gene

  • Tubulin Tyrosine Ligase Like 5 2 3 5
  • KIAA0998 2 3 4
  • SRC1 And TIF2-Associated Modulatory Protein 3 4
  • STAMP 3 4
  • Tubulin Tyrosine Ligase-Like Family, Member 5 3
  • Tubulin Tyrosine Ligase-Like Family Member 5 2
  • SRC1 And TIF2 Associated Binding Protein 3
  • Tubulin--Tyrosine Ligase-Like Protein 5 4
  • Tubulin Polyglutamylase TTLL5 3
  • 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 TTLL4.

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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14G075535 1.9 FANTOM5 Ensembl ENCODE dbSUPER 9.8 -97.3 -97296 2.5 PKNOX1 FOXA2 MLX SIN3A FEZF1 YY1 ZNF207 FOS DEK ZNF592 BATF TTLL5 FOS PIR35535
GH14G075538 1.9 FANTOM5 Ensembl ENCODE dbSUPER 9.8 -92.0 -91976 5.6 HDGF PKNOX1 ATF1 WRNIP1 SIN3A TCF12 GATA2 NCOA1 REST TBX21 FLVCR2 LOC102724153 TTLL5 BATF FOS JDP2 PIR35535
GH14G075644 1.6 Ensembl ENCODE dbSUPER 10.5 +14.2 14153 7.4 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 FLVCR2 PROX2 LOC102724153 TTLL5 BATF IFT43 GC14M075659
GH14G075561 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.4 -72.4 -72411 0.4 ELF3 HDGF WRNIP1 SIN3A RAD21 ZNF366 ZNF143 RCOR1 RELB IKZF2 BATF TTLL5 JDP2 PIR35535 FLVCR2
GH14G075830 1.4 Ensembl ENCODE dbSUPER 11.5 +198.5 198512 2.8 HDAC1 PKNOX1 ATF1 CREB3L1 ARNT RFX5 TCF12 GATA2 EGR1 FOS FLVCR2 TTLL5 RPS2P43 GC14P075681
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TTLL5 on UCSC Golden Path with GeneCards custom track

Promoters for TTLL5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000070962 92 2201 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 YBX1 ZNF2 ZBTB7B YY1

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

Post-translational modifications for TTLL5 Gene

  • Ubiquitination at Lys1159
  • 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

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.
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

Gene Ontology (GO) - Molecular Function for TTLL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity IEA --
GO:0070740 tubulin-glutamic acid ligase activity TAS --
genes like me logo Genes that share ontologies with TTLL5: view
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

CRISPR Products

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TTLL5 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 5
nucleus 4

Gene Ontology (GO) - Cellular Components for TTLL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 21399614
GO:0005829 cytosol TAS,IDA --
GO:0005856 cytoskeleton 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:0006351 transcription, DNA-templated IEA --
GO:0006464 cellular protein modification process IEA --
GO:0007283 spermatogenesis IEA --
GO:0007288 sperm axoneme assembly 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

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for TTLL5 Gene



Protein tissue co-expression partners for TTLL5 Gene

NURSA nuclear receptor signaling pathways regulating expression of TTLL5 Gene:

TTLL5

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.

Evidence on tissue expression from TISSUES for TTLL5 Gene

  • Nervous system(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TTLL5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • lacrimal apparatus
  • pituitary gland
Thorax:
  • breast
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with TTLL5: view

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
chimpanzee
(Pan troglodytes)
Mammalia TTLL5 34 35
  • 98.6 (n)
cow
(Bos Taurus)
Mammalia TTLL5 34 35
  • 91.38 (n)
dog
(Canis familiaris)
Mammalia TTLL5 34 35
  • 91.14 (n)
rat
(Rattus norvegicus)
Mammalia Ttll5 34
  • 88.11 (n)
mouse
(Mus musculus)
Mammalia Ttll5 34 16 35
  • 88.08 (n)
oppossum
(Monodelphis domestica)
Mammalia TTLL5 35
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TTLL5 35
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves TTLL5 34 35
  • 66.03 (n)
lizard
(Anolis carolinensis)
Reptilia TTLL5 35
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ttll5 34
  • 49.12 (n)
zebrafish
(Danio rerio)
Actinopterygii TTLL5 35
  • 75 (a)
OneToOne
LOC100538301 34
  • 71.38 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG31108 35
  • 32 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ttll-5 35
  • 30 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 60 (a)
OneToOne
Species where no ortholog for TTLL5 was found in the sources mined by GeneCards:
  • 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
rs199882533 Pathogenic, Cone-rod dystrophy 19 (CORD19) [MIM:615860] 75,764,691(+) TTTAC(A/G/T)AGAGG reference, missense
rs587777469 Pathogenic 75,764,650(+) GATAG(-/AGAG)TCTGA reference, frameshift-variant
rs587777470 Pathogenic 75,690,221(+) CCGAC(-/T)GTACA reference, frameshift-variant
rs587777471 Pathogenic 75,863,694(+) GCCTG(A/G)GAAGG reference, stop-gained
rs753018563 Likely pathogenic 75,745,529(+) ATCGG(C/T)GAGGT reference, stop-gained

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

Variant ID Type Subtype PubMed ID
dgv1941n100 CNV loss 25217958
esv2386292 CNV deletion 18987734
esv2491325 CNV deletion 19546169
esv2659565 CNV deletion 23128226
esv2664273 CNV deletion 23128226
esv2748875 CNV deletion 23290073
esv3634972 CNV loss 21293372
esv3634976 CNV loss 21293372
nsv1047680 CNV loss 25217958
nsv1358 CNV insertion 18451855
nsv1359 CNV deletion 18451855
nsv438263 CNV loss 16468122
nsv472238 CNV novel sequence insertion 20440878
nsv518383 CNV loss 19592680
nsv524538 CNV gain 19592680

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TTLL5

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

Disorders for TTLL5 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
cone-rod dystrophy 19
  • cord19
retinitis pigmentosa
  • retinitis pigmentosa 1
- 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, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {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 64
  2. Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. (PMID: 21998595) N'Diaye A. … Haiman C.A. (PLoS Genet. 2011) 3 46 64
  3. STAMP, a novel predicted factor assisting TIF2 actions in glucocorticoid receptor-mediated induction and repression. (PMID: 17116691) He Y. … Simons S.S. Jr. (Mol. Cell. Biol. 2007) 3 4 64
  4. Tubulin polyglutamylase enzymes are members of the TTL domain protein family. (PMID: 15890843) Janke C. … Edde B. (Science 2005) 2 3 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for TTLL5 Gene

Sources for TTLL5 Gene

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