TPGS1 tubulin polyglutamylase complex subunit 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TPGS1provided by HGNC
Official Full Name: tubulin polyglutamylase complex subunit 1provided by HGNC
Primary source: HGNC:HGNC:25058
See related: Ensembl:ENSG00000141933 MIM:620709; AllianceGenome:HGNC:25058
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: PGs1; C19orf20; GTRGEO22
Summary: Predicted to enable microtubule binding activity. Predicted to be involved in cell differentiation and spermatogenesis. Predicted to act upstream of or within several processes, including adult behavior; protein polyglutamylation; and sperm axoneme assembly. Located in centrosome. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in kidney (RPKM 5.9), fat (RPKM 4.3) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (507497..519654)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (460069..472226)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (507497..519654)

Chromosome 19 - NC_000019.10 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Isolation and functional characterization of the mouse PGs1 ortholog, and comparison to the human protein.
Title: Characterisation of PGs1, a subunit of a protein complex co-purifying with tubulin polyglutamylase.

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 microtubule 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

Process	Evidence Code	Pubs
involved_in adult behavior	IEA Inferred from Electronic Annotation more info
involved_in chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in sperm axoneme assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in vesicle localization	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in axon	IEA Inferred from Electronic Annotation more info
located_in centriolar satellite	IEA Inferred from Electronic Annotation more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in microtubule	IEA Inferred from Electronic Annotation more info
is_active_in microtubule organizing center	IBA Inferred from Biological aspect of Ancestor more info
located_in motile cilium	IEA Inferred from Electronic Annotation more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: tubulin polyglutamylase complex subunit 1

Names: gene trap ROSA b-geo 22; polyglutamylase subunit 1

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_033513.3 → NP_277048.2 tubulin polyglutamylase complex subunit 1

See identical proteins and their annotated locations for NP_277048.2

Status: VALIDATED

Source sequence(s)

BC009520, BM846833

Consensus CDS

CCDS42454.1

UniProtKB/Swiss-Prot

Q6ZTW0, Q96GE2

Related

ENSP00000352265.4, ENST00000359315.6

Conserved Domains (1) summary

cl02594
Location:36 → 74

DD_R_PKA; Dimerization/Docking domain of the Regulatory subunit of cAMP-dependent protein kinase and similar domains