TTLL5 (tubulin tyrosine ligase like 5)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23093
Gene name Gene Name - the full gene name approved by the HGNC.
Tubulin tyrosine ligase like 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TTLL5
Synonyms (NCBI Gene) Gene synonyms aliases
CORD19, KIAA0998, STAMP
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q24.3
Summary Summary of gene provided in NCBI Entrez 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 c
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(16)
SNP ID Visualize variation Clinical significance Consequence
rs17849666 G>A,T Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs142169707 G>A Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs185326652 T>C Conflicting-interpretations-of-pathogenicity Intron variant
rs199882533 G>A,T Pathogenic Coding sequence variant, missense variant, stop gained
rs587777469 AGAG>-,AG Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(191)
miRTarBase ID miRNA Experiments Reference
MIRT017876 hsa-miR-335-5p Microarray 18185580
MIRT571288 hsa-miR-4475 PAR-CLIP 20371350
MIRT571287 hsa-miR-15a-5p PAR-CLIP 20371350
MIRT571286 hsa-miR-15b-5p PAR-CLIP 20371350
MIRT571285 hsa-miR-16-5p PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(23)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005524 Function ATP binding IEA
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IDA 21399614
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
612268 19963 ENSG00000119685
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q6EMB2
Protein name Tubulin polyglutamylase TTLL5 (EC 6.3.2.-) (SRC1 and TIF2-associated modulatory protein) (STAMP protein) (Tubulin--tyrosine ligase-like protein 5)
Protein function Polyglutamylase which modifies tubulin, generating polyglutamate side chains on the gamma-carboxyl group of specific glutamate residues within the C-terminal tail of tubulin. Preferentially mediates ATP-dependent initiation step of the polygluta
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03133 TTL 110 → 405 Tubulin-tyrosine ligase family Family
Tissue specificity 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. {ECO:0000269|PubMed:17116691, ECO:0000269|PubMed:2
Sequence 
MPIVMARDLEETASSSEDEEVISQEDHPCIMWTGGCRRIPVLVFHADAILTKDNNIRVIG
ERYHLSYKIVRTDSRLVRSILTAHGFHEVHPSSTDYNLMWTGSHLKPFLLRTLSEAQKVN
HFPRSYELTRKDRLYKNIIRMQHTHGFKAFHILPQTFLLPAEYAEFCNSYSKDRGPWIVK
PVASSRGRGVYLINNPNQISLEENILVSRYINNPLLIDDFKFDVRLYVLVTSYDPLVIYL
YEEGLARFATVRYDQGAKNIRNQFMHLTNYSVNKKSGDYVSCDDPEVEDYGNKWSMSAML
RYLKQEGRDTTALMAHVEDLIIKTIISAELAIATACKTFVPHRSSCFELYGFDVLIDSTL
KPWLLEVNLSPSLACDAPLDLKIKASMISDMFTVVGFVCQDPAQRASTRPIYPTFESSRR
NPFQKPQRCRPLSASDAEMKNLVGSAREKGPGKLGGSVLGLSMEEIKVLRRVKEENDRRG
GFIRIFPTSETWEIYGSYLEHKTSMNYMLATRLFQDRMTADGAPELKIESLNSKAKLHAA
LYERKLLSLEVRKRRRRSSRLRAMRPKYPVITQPAEMNVKTETESEEEEEVALDNEDEEQ
EASQEESAGFLRENQAKYTPSLTALVENTPKENSMKVREWNNKGGHCCKLETQELEPKFN
LMQILQDNGNLSKMQARIAFSAYLQHVQIRLMKDSGGQTFSASWAAKEDEQMELVVRFLK
RASNNLQHSLRMVLPSRRLALLERRRILAHQLGDFIIVYNKETEQMAEKKSKKKVEEEEE
DGVNMENFQEFIRQASEAELEEVLTFYTQKNKSASVFLGTHSKISKNNNNYSDSGAKGDH
PETIMEEVKIKPPKQQQTTEIHSDKLSRFTTSAEKEAKLVYSNSSSGPTATLQKIPNTHL
SSVTTSDLSPGPCHHSSLSQIPSAIPSMPHQPTILLNTVSASASPCLHPGAQNIPSPTGL
PRCRSGSHTIGPFSSFQSAAHIYSQKLSRPSSAKAGSCYLNKHHSGIAKTQKEGEDASLY
SKRYNQSMVTAELQRLAEKQAARQYSPSSHINLLTQQVTNLNLATGIINRSSASAPPTLR
PIISPSGPTWSTQSDPQAPENHSSSPGSRSLQTGGFAWEGEVENNVYSQATGVVPQHKYH
PTAGSYQLQFALQQLEQQKLQSRQLLDQSRARHQAIFGSQTLPNSNLWTMNNGAGCRISS
ATASGQKPTTLPQKVVPPPSSCASLVPKPPPNHEQVLRRATSQKASKGSSAEGQLNGLQS
SLNPAAFVPITSSTDPAHTKI
Sequence length 1281
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  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)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (5)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cone-rod dystrophy cone-rod dystrophy 19 rs1555345387, rs587777469, rs587777470, rs587777471, rs199882533, rs138370992, rs772656461 N/A
retinal dystrophy Retinal dystrophy rs766173950, rs779740894, rs769845921, rs745934202, rs1400806789, rs199882533, rs138370992, rs753018563 N/A
Central Areolar Choroidal Dystrophy central areolar choroidal dystrophy rs1400806789 N/A
cone-rod dystrophy Cone-rod dystrophy rs587777469, rs1439202144, rs1887576038 N/A
Show/Hide Unknown Diseases (2)
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
Carpal Tunnel Syndrome Carpal tunnel syndrome N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
Show/Hide Text Mining Associations (16)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Ciliopathies Associate 38264610
Cone Dystrophy Associate 28356705, 34203883, 35365235
Cone Dystrophy 3 Associate 38264610
Cone Rod Dystrophies Associate 34203883, 35365235
Crohn Disease Associate 38264610
Endometrial Neoplasms Associate 23028188
Hearing Loss High Frequency Associate 35365235
Neoplasms Associate 20374646
Neoplasms Inhibit 23028188
Night blindness congenital stationary Associate 28356705