TTLL9 tubulin tyrosine ligase like 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TTLL9provided by HGNC
Official Full Name: tubulin tyrosine ligase like 9provided by HGNC
Primary source: HGNC:HGNC:16118
See related: Ensembl:ENSG00000131044 MIM:619838; AllianceGenome:HGNC:16118
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: C20orf125
Summary: Predicted to enable tubulin binding activity and tubulin-glutamic acid ligase activity. Predicted to be involved in microtubule cytoskeleton organization and protein polyglutamylation. Predicted to act upstream of or within flagellated sperm motility. Predicted to be located in ciliary basal body; cytoplasm; and microtubule. Predicted to be active in cilium. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in testis (RPKM 3.4), brain (RPKM 0.8) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q11.21

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (31870634..31945000)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (33595244..33669637)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (30458437..30532803)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

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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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Markers

D20S425 (e-PCR)
- UniSTS:51225

NoName (e-PCR)
- UniSTS:487225

D20S111 (e-PCR), detects polymorphism
- UniSTS:52368

WI-13573 (e-PCR)
- UniSTS:49554

SHGC-3398 (e-PCR)
- UniSTS:173217

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	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in flagellated sperm motility	IEA Inferred from Electronic Annotation more info
involved_in microtubule cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein modification process	IEA Inferred from Electronic Annotation more info
involved_in protein polyglutamylation	IBA Inferred from Biological aspect of Ancestor more info

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

General protein information

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Preferred Names: probable tubulin polyglutamylase TTLL9

Names: tubulin tyrosine ligase-like family, member 9; tubulin--tyrosine ligase-like protein 9

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.