TEKT3 tektin 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TEKT3provided by HGNC
Official Full Name: tektin 3provided by HGNC
Primary source: HGNC:HGNC:14293
See related: Ensembl:ENSG00000125409 MIM:612683; AllianceGenome:HGNC:14293
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SPGF81
Summary: This gene product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins that are coassembled with tubulins to form ciliary and flagellar microtubules. The exact function of this gene is not known. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward testis (RPKM 5.3) See more
Orthologs: mouse all
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Genomic context

Location:: 17p12

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (15303812..15343671, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (15209840..15249701, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (15207129..15244914, complement)

Chromosome 17 - NC_000017.11 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?

Bi-allelic human TEKT3 mutations cause male infertility with oligoasthenoteratozoospermia owing to acrosomal hypoplasia and reduced progressive motility.
Title: Bi-allelic human TEKT3 mutations cause male infertility with oligoasthenoteratozoospermia owing to acrosomal hypoplasia and reduced progressive motility.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Spermatogenic failure 81 MedGen: C5830329 OMIM: 620277 GeneReviews: Not available	not available

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

D17S122 (e-PCR)
- UniSTS:25402

RH119313 (e-PCR)
- UniSTS:133875

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in cilium movement involved in cell motility	IBA Inferred from Biological aspect of Ancestor more info
involved_in flagellated sperm motility	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_positive_effect regulation of brood size	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in acrosomal membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in acrosomal vesicle	ISS Inferred from Sequence or Structural Similarity more info
is_active_in axonemal A tubule inner sheath	ISS Inferred from Sequence or Structural Similarity more info
located_in axonemal microtubule	IDA Inferred from Direct Assay more info	PubMed
located_in axonemal microtubule	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular exosome	HDA more info	PubMed
is_active_in microtubule cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	HDA more info	PubMed
located_in outer acrosomal membrane	IEA Inferred from Electronic Annotation more info
is_active_in sperm flagellum	IBA Inferred from Biological aspect of Ancestor more info
is_active_in sperm flagellum	ISS Inferred from Sequence or Structural Similarity more info
located_in sperm flagellum	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: tektin-3

Names: testicular microtubules-related protein

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.