TTLL1 TTL family tubulin polyglutamylase complex subunit L1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TTLL1provided by HGNC
Official Full Name: TTL family tubulin polyglutamylase complex subunit L1provided by HGNC
Primary source: HGNC:HGNC:1312
See related: Ensembl:ENSG00000100271 MIM:608955; AllianceGenome:HGNC:1312
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: TPGS3; C22orf7; HS323M22B
Summary: Enables tubulin-glutamic acid ligase activity. Involved in microtubule cytoskeleton organization. Is active in microtubule. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Broad expression in testis (RPKM 7.3), brain (RPKM 5.8) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.2

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (43039516..43089391, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (43520523..43570587, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (43435522..43485397, complement)

Chromosome 22 - NC_000022.11 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?

Meta-analysis of gene-disease association. (HuGE Navigator)
Title: Prostate cancer risk-associated variants reported from genome-wide association studies: meta-analysis and their contribution to genetic Variation.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
Title: Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.

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

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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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 tubulin binding	IBA Inferred from Biological aspect of Ancestor more info
enables tubulin-glutamic acid ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables tubulin-glutamic acid ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables tubulin-glutamic acid ligase activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cerebellar Purkinje cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in immune response in nasopharyngeal-associated lymphoid tissue	IEA Inferred from Electronic Annotation more info
involved_in microtubule cytoskeleton organization	IDA Inferred from Direct Assay more info	PubMed
involved_in mucociliary clearance	IEA Inferred from Electronic Annotation more info
involved_in protein polyglutamylation	TAS Traceable Author Statement more info	PubMed
involved_in regulation of blastocyst development	IEA Inferred from Electronic Annotation more info
involved_in sperm axoneme assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in sperm axoneme assembly	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in ciliary basal body	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary basal body	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
is_active_in microtubule	IDA Inferred from Direct Assay more info	PubMed
located_in motile cilium	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: polyglutamylase complex subunit TTLL1

Names: PGs3; catalytic subunit of neural tubulin polyglutamylase; polyglutamylase subunit 3; probable tubulin polyglutamylase TTLL1; tubulin polyglutamylase TTLL1; tubulin polyglutamylase complex subunit 3; tubulin tyrosine ligase like 1; tubulin tyrosine ligase-like family, member 1; tubulin--tyrosine ligase-like protein 1; tubulin-tyrosine ligase

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_012263.5 → NP_036395.1 polyglutamylase complex subunit TTLL1

See identical proteins and their annotated locations for NP_036395.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the shorter transcript but encodes the functional protein.

Source sequence(s)

AI369631, AL136687, BG911167, DA247656

Consensus CDS

CCDS14043.1

UniProtKB/Swiss-Prot

B2RDS7, O95922, Q9BR27, Q9NRS9, Q9UMU0

UniProtKB/TrEMBL

B3KTT1

Related

ENSP00000266254.7, ENST00000266254.12

Conserved Domains (1) summary

pfam03133
Location:59 → 364

TTL; Tubulin-tyrosine ligase family

RNA

NR_027779.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (2) includes an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AF173935, AI369631, AL022476, AL136687, BG911167, DA247656

Related

ENST00000439248.5

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_000022.11 Reference GRCh38.p14 Primary Assembly

Range

43039516..43089391 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060946.1 Alternate T2T-CHM13v2.0

Range

43520523..43570587 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001008572.1: Suppressed sequence

Description

NM_001008572.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.