TTLL6 tubulin tyrosine ligase like 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TTLL6provided by HGNC
Official Full Name: tubulin tyrosine ligase like 6provided by HGNC
Primary source: HGNC:HGNC:26664
See related: Ensembl:ENSG00000170703 MIM:610849; AllianceGenome:HGNC:26664
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TTL.6
Summary: Predicted to enable tubulin binding activity and tubulin-glutamic acid ligase activity. Predicted to be involved in microtubule cytoskeleton organization; protein polyglutamylation; and regulation of cilium beat frequency involved in ciliary motility. Predicted to act upstream of or within microtubule bundle formation; microtubule severing; and positive regulation of cilium movement. Located in ciliary basal body. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in testis (RPKM 10.4), colon (RPKM 1.9) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.32

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (48762234..48817229, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (49625842..49680794, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (46839596..46894591, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

XBP1 variant 1 promotes mitosis of cancer cells involving upregulation of the polyglutamylase TTLL6.
Title: XBP1 variant 1 promotes mitosis of cancer cells involving upregulation of the polyglutamylase TTLL6.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-146395 (e-PCR)
- UniSTS:175197

D17S1408E (e-PCR)
- UniSTS:150454

RH98445 (e-PCR)
- UniSTS:88016

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-glutamic acid ligase activity	ISS Inferred from Sequence or Structural Similarity more info
enables tubulin binding	IBA Inferred from Biological aspect of Ancestor more info
enables tubulin binding	ISS Inferred from Sequence or Structural Similarity more info
enables tubulin-glutamic acid ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables tubulin-glutamic acid ligase activity	ISS Inferred from Sequence or Structural Similarity more info
enables tubulin-glutamic acid ligase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in microtubule bundle formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in microtubule bundle formation	IEA Inferred from Electronic Annotation more info
involved_in microtubule severing	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cilium movement	IEA Inferred from Electronic Annotation more info
involved_in protein polyglutamylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cilium beat frequency involved in ciliary motility	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in 9+0 non-motile cilium	IEA Inferred from Electronic Annotation more info
is_active_in ciliary basal body	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in microtubule	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: tubulin polyglutamylase TTLL6

Names: protein polyglutamylase TTLL6; tubulin tyrosine ligase-like family member 6; tubulin--tyrosine ligase-like protein 6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001130918.3 → NP_001124390.1 tubulin polyglutamylase TTLL6 isoform 1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC068531, AK302952

Consensus CDS

CCDS45724.1

UniProtKB/Swiss-Prot

B4DZJ5, C9J233, Q24KB1, Q24KB2, Q24KB6, Q24KF3, Q24KJ5, Q24KN7, Q24KS9, Q24KX1, Q24L13, Q24L55, Q24L76, Q658K6, Q8IYW6, Q8N841, Q8NA62

Related

ENSP00000377043.3, ENST00000393382.8

Conserved Domains (1) summary

pfam03133
Location:154 → 441

TTL; Tubulin-tyrosine ligase family
NM_001366314.2 → NP_001353243.1 tubulin polyglutamylase TTLL6 isoform 3

Status: VALIDATED

Source sequence(s)

AC068531

Conserved Domains (1) summary

pfam03133
Location:1 → 281

TTL; Tubulin-tyrosine ligase family
NM_173623.4 → NP_775894.2 tubulin polyglutamylase TTLL6 isoform 2

See identical proteins and their annotated locations for NP_775894.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (2) has a shorter N-terminus when compared to isoform 1.

Source sequence(s)

AC068531, BC033563

Consensus CDS

CCDS11537.2

UniProtKB/TrEMBL

A0AAA9X7X9

Related

ENSP00000399211.2, ENST00000433608.6

Conserved Domains (1) summary

cl17255
Location:27 → 134

ATP-grasp_4; ATP-grasp domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

48762234..48817229 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017024491.3 → XP_016879980.1 tubulin polyglutamylase TTLL6 isoform X1
XM_017024493.3 → XP_016879982.1 tubulin polyglutamylase TTLL6 isoform X2
XM_047435804.1 → XP_047291760.1 tubulin polyglutamylase TTLL6 isoform X2
XM_047435803.1 → XP_047291759.1 tubulin polyglutamylase TTLL6 isoform X2
XM_017024492.2 → XP_016879981.1 tubulin polyglutamylase TTLL6 isoform X2
XM_017024495.3 → XP_016879984.1 tubulin polyglutamylase TTLL6 isoform X3

Conserved Domains (1) summary

cl17255
Location:2 → 187

ATP-grasp_4; ATP-grasp domain
XM_047435805.1 → XP_047291761.1 tubulin polyglutamylase TTLL6 isoform X4