Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
26140
Gene name Gene Name - the full gene name approved by the HGNC.
Tubulin tyrosine ligase like 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TTLL3
Synonyms (NCBI Gene) Gene synonyms aliases
HOTTL
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p25.3
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022524 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT1462396 hsa-miR-1912 CLIP-seq
MIRT1462397 hsa-miR-3130-5p CLIP-seq
MIRT1462398 hsa-miR-3607-3p CLIP-seq
MIRT1462399 hsa-miR-3686 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005524 Function ATP binding IEA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol TAS
GO:0005856 Component Cytoskeleton IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
619195 24483 ENSG00000214021
Protein
UniProt ID Q9Y4R7
Protein name Tubulin monoglycylase TTLL3 (EC 6.3.2.-) (HOTTL) (Tubulin--tyrosine ligase-like protein 3)
Protein function Monoglycylase which modifies alpha- and beta-tubulin, adding a single glycine on the gamma-carboxyl groups of specific glutamate residues to generate monoglycine side chains within the C-terminal tail of tubulin. Not involved in elongation step
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03133 TTL 213 505 Tubulin-tyrosine ligase family Family
Tissue specificity TISSUE SPECIFICITY: Expressed in brain, heart, kidney, testis, liver, lung, muscle, spleen, trachea and colon. {ECO:0000269|PubMed:25180231}.
Sequence
MNRLRNAKIYVERAVKQKKIFTIQGCYPVIRCLLRRRGWVEKKMVHRSGPTLLPPQKDLD
SSAMGDSDTTEDEDEDEDEEFQPSQLFDFDDLLKFDDLDGTHALMVGLCLNLRNLPWFDE
VDANSFFPRCYCLGAEDDKKAFIEDFWLTAARNVLKLVVKSEWKSYPIQAVEEEASGDKQ
PKKQEKNPVLVSPEFVDEALCACEEYLSNLAHMDIDKDLEAPLYLTPEGWSLFLQRYYQV
VHEGAELRHLDTQVQRCEDILQQLQAVVPQIDMEGDRNIWIVKPGAKSRGRGIMCMDHLE
EMLKLVNGNPVVMKDGKWVVQKYIERPLLIFGTKFDLRQWFLVTDWNPLTVWFYRDSYIR
FSTQPFSLKNLDNSVHLCNNSIQKHLENSCHRHPLLPPDNMWSSQRFQAHLQEMGAPNAW
STIIVPGMKDAVIHALQTSQDTVQCRKASFELYGADFVFGEDFQPWLIEINASPTMAPST
AVTARLCAGVQADTLRVVIDRMLDR
NCDTGAFELIYKQPAVEVPQYVGIRLLVEGFTIKK
PMAMCHRRMGVRPAVPLLTQRGSGEARHHFPSLHTKAQLPSPHVLRHQGQVLRRQHSKLV
GTKALSTTGKALRTLPTAKVFISLPPNLDFKVAPSILKPRKAPALLCLRGPQLEVPCCLC
PLKSEQFLAPVGRSRPKANSRPDCDKPRAEACPMKRLSPLKPLPLVGTFQRRRGLGDMKL
GKPLLRFPTALVLDPTPNKKKQVKYLGLDSIAVGGSRVDGARPCTPGSTARA
Sequence length 772
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Carboxyterminal post-translational modifications of tubulin
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Persistent Fetal Circulation Syndrome Associate 32054482