TEKT1

Summary

TEKT1 (tektin 1, HGNC:15534) is a protein-coding gene on chromosome 17p13.1, encoding Tektin-1 (Q969V4). Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia and flagellar axoneme.

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. This gene is predominantly expressed in the testis and in mouse, tektin 1 mRNA was localized to the spermatocytes and round spermatids in the seminiferous tubules, indicating that it may play a role in spermatogenesis.

Source: NCBI Gene 83659 — RefSeq curated summary.

At a glance

• Gene–disease (curated): primary ciliary dyskinesia (Disputed, ClinGen)
• GWAS associations: 1
• Clinical variants (ClinVar): 81 total
• Druggable target: yes
• MANE Select transcript: NM_053285

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15534
Approved symbol	TEKT1
Name	tektin 1
Location	17p13.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000167858
Ensembl biotype	protein_coding
OMIM	609002
Entrez	83659

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000338694, ENST00000571744, ENST00000572291, ENST00000573966, ENST00000575592

RefSeq mRNA: 1 — MANE Select: NM_053285 NM_053285

CCDS: CCDS11083

Canonical transcript exons

ENST00000338694 — 8 exons

Exon	Start	End
ENSE00001117719	6819193	6819358
ENSE00001371586	6797993	6800234
ENSE00003474570	6800747	6800943
ENSE00003476573	6812831	6813053
ENSE00003651451	6815834	6815962
ENSE00003663337	6830187	6830393
ENSE00003677702	6815163	6815306
ENSE00003843102	6831649	6831729

Expression profiles

Bgee: expression breadth ubiquitous, 157 present calls, max score 98.91.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4126 / max 53.0858, expressed in 89 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
164070	0.2657	71
164069	0.1469	53

Top tissues by expression

249 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	98.91	gold quality
right uterine tube	UBERON:0001302	98.04	gold quality
bronchus	UBERON:0002185	97.65	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	94.31	gold quality
mucosa of paranasal sinus	UBERON:0005030	91.10	gold quality
left testis	UBERON:0004533	86.18	gold quality
right testis	UBERON:0004534	85.77	gold quality
fallopian tube	UBERON:0003889	83.98	gold quality
testis	UBERON:0000473	83.55	gold quality
sperm	CL:0000019	83.42	gold quality
oviduct epithelium	UBERON:0004804	81.87	gold quality
epithelium of nasopharynx	UBERON:0001951	80.81	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.24	gold quality
nasal cavity epithelium	UBERON:0005384	79.68	gold quality
ventricular zone	UBERON:0003053	75.15	gold quality
nasal cavity mucosa	UBERON:0001826	73.79	gold quality
trachea	UBERON:0003126	73.40	gold quality
right lung	UBERON:0002167	73.10	gold quality
caput epididymis	UBERON:0004358	70.53	gold quality
left uterine tube	UBERON:0001303	69.10	gold quality
lower esophagus mucosa	UBERON:0035834	67.49	gold quality
upper arm skin	UBERON:0004263	66.34	gold quality
adult organism	UBERON:0007023	65.30	gold quality
hypothalamus	UBERON:0001898	64.66	gold quality
right lobe of liver	UBERON:0001114	63.83	gold quality
endometrium	UBERON:0001295	62.86	gold quality
endocervix	UBERON:0000458	62.14	gold quality
right ovary	UBERON:0002118	61.48	gold quality
lung	UBERON:0002048	61.38	gold quality
ganglionic eminence	UBERON:0004023	61.03	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-CURD-114	yes	62.81
E-MTAB-10287	yes	26.85
E-MTAB-9388	yes	6.77
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FOXJ1

Literature-anchored findings (GeneRIF, showing 1)

• tektin-t localized specifically to the principal piece of sperm flagella and to the post-acrosomal region; the h-tektin-t gene was assigned to chromosome 1 (PMID:12029069)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	tekt1	ENSDARG00000101331
mus_musculus	Tekt1	ENSMUSG00000020799
rattus_norvegicus	Tekt1	ENSRNOG00000014973
drosophila_melanogaster	Tektin-C	FBGN0035638

Paralogs (5): TEKT2 (ENSG00000092850), TEKT3 (ENSG00000125409), TEKT5 (ENSG00000153060), TEKT4 (ENSG00000163060), (ENSG00000274847)

Protein

Protein identifiers

Tektin-1 — Q969V4 (reviewed: Q969V4)

All UniProt accessions (4): Q969V4, I3L122, I3L357, I3L3D4

UniProt curated annotations — full annotation on UniProt →

Function. Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia and flagellar axoneme. Forms filamentous polymers in the walls of ciliary and flagellar microtubules.

Subunit / interactions. Microtubule inner protein component of sperm flagellar doublet microtubules.

Subcellular location. Cytoplasm. Cytoskeleton. Cilium axoneme. Flagellum axoneme.

Tissue specificity. Predominantly expressed in testis. Expressed in airway epithelial cells.

Post-translational modifications. Ubiquitinated, leading to its degradation. Deubiquitinated by USP16, promoting its stability.

Similarity. Belongs to the tektin family.

RefSeq proteins (1): NP_444515* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000435	Tektins	Family
IPR048256	Tektin-like	Family

Pfam: PF03148

UniProt features (8 total): coiled-coil region 4, sequence variant 3, chain 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
7UNG	ELECTRON MICROSCOPY	3.6
8J07	ELECTRON MICROSCOPY	4.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q969V4-F1	93.16	0.89

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 66 (showing top): SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOBP_ORGANELLE_ASSEMBLY, GOBP_CELL_PROJECTION_ORGANIZATION, GOCC_CYTOPLASMIC_REGION, GOCC_MOTILE_CILIUM, GOCC_CYTOPLASMIC_MICROTUBULE, GOCC_CILIUM, DODD_NASOPHARYNGEAL_CARCINOMA_DN, FOSTER_KDM1A_TARGETS_UP, GOCC_AXONEMAL_MICROTUBULE, GOCC_9PLUS2_MOTILE_CILIUM, GOCC_SUPRAMOLECULAR_COMPLEX

GO Biological Process (3): flagellated sperm motility (GO:0030317), cilium assembly (GO:0060271), cilium movement involved in cell motility (GO:0060294)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (11): nucleus (GO:0005634), axonemal microtubule (GO:0005879), microtubule cytoskeleton (GO:0015630), sperm flagellum (GO:0036126), axonemal A tubule inner sheath (GO:0160111), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), microtubule (GO:0005874), cilium (GO:0005929), motile cilium (GO:0031514), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cilium-dependent cell motility	2
cilium movement involved in cell motility	1
sperm motility	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
cilium movement	1
cell motility	1
binding	1
intracellular membrane-bounded organelle	1
cytoplasmic microtubule	1
axoneme	1
cytoskeleton	1
9+2 motile cilium	1
A axonemal microtubule	1
axonemal microtubule doublet inner sheath	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cilium	1

Protein interactions and networks

STRING

1436 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TEKT1	FOXJ1	Q92949	613
TEKT1	BOLL	Q8N9W6	574
TEKT1	ARMC3	Q5W041	545
TEKT1	DNAI1	Q9UI46	543
TEKT1	OXCT1	P55809	532
TEKT1	DAW1	Q8N136	531
TEKT1	SPAG6	O75602	519
TEKT1	SNTN	A6NMZ2	503
TEKT1	PUM2	Q8TB72	502
TEKT1	NANOS1	Q8WY41	501
TEKT1	DNAH5	Q8TE73	496
TEKT1	RSPH1	Q8WYR4	493
TEKT1	DNAAF1	Q8NEP3	491
TEKT1	DAZL	Q92904	474
TEKT1	CYB5D1	Q6P9G0	472

IntAct

103 interactions, top by confidence:

A	B	Type	Score
PRKAG1	TEKT1	psi-mi:“MI:0915”(physical association)	0.720
HNRNPH2	TEKT1	psi-mi:“MI:0915”(physical association)	0.720
CCHCR1	TEKT1	psi-mi:“MI:0915”(physical association)	0.720
TEKT1	PRKAG1	psi-mi:“MI:0915”(physical association)	0.720
TEKT1	CCHCR1	psi-mi:“MI:0915”(physical association)	0.720
TEKT1	HNRNPH2	psi-mi:“MI:0915”(physical association)	0.720
HGS	TEKT1	psi-mi:“MI:0915”(physical association)	0.720
BYSL	TEKT1	psi-mi:“MI:0915”(physical association)	0.670
TEKT1	BYSL	psi-mi:“MI:0915”(physical association)	0.670
TEKT1	SDCBP	psi-mi:“MI:0915”(physical association)	0.560
CHD2	TEKT1	psi-mi:“MI:0915”(physical association)	0.560
TEKT1	VCL	psi-mi:“MI:0915”(physical association)	0.560
TEKT1	NCAPD3	psi-mi:“MI:0915”(physical association)	0.560
TEKT1	CHD2	psi-mi:“MI:0915”(physical association)	0.560
VCL	TEKT1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (34): TEKT1 (Two-hybrid), TEKT1 (Two-hybrid), TEKT1 (Two-hybrid), TEKT1 (Two-hybrid), TEKT1 (Two-hybrid), TEKT1 (Two-hybrid), TEKT1 (Two-hybrid), TEKT1 (Two-hybrid), TEKT1 (Affinity Capture-MS), TEKT1 (Two-hybrid), TEKT1 (Two-hybrid), TEKT1 (Two-hybrid), TEKT1 (Two-hybrid), TEKT1 (Two-hybrid), TEKT1 (Two-hybrid)

ESM2 similar proteins: A1A5Q4, A4IH82, A6H782, A7S8T5, F7F3Q2, G5E8A8, O35594, O46469, Q0E908, Q149S1, Q26648, Q29RL1, Q2T9Q6, Q2TA16, Q2TA38, Q2YDI7, Q32KZ9, Q3SYS9, Q4R353, Q4R5V1, Q4R7G7, Q4V8G8, Q5PPV2, Q5RHQ8, Q5U584, Q5XIJ8, Q6AXV2, Q6AYM2, Q6DFJ6, Q6DGZ3, Q6PE87, Q6X6Z7, Q8CI04, Q8IXS2, Q8IYR0, Q8VHI7, Q8WW24, Q8WYA0, Q922G7, Q95JU3

Diamond homologs: A6H782, F7F3Q2, G5E8A8, P86230, Q149S1, Q1W6C3, Q26648, Q2T9Q6, Q2TA38, Q2YDI7, Q32KZ9, Q4R353, Q4R5V1, Q4V8G8, Q5PPV2, Q6AXV2, Q6AYM2, Q6X6Z7, Q8WW24, Q8WZ33, Q922G7, Q969V4, Q96M29, Q99JD2, Q9BXF9, Q9DAJ2, Q9TTW3, Q9UIF3

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
FOXJ1	“up-regulates quantity by expression”	TEKT1	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

81 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	73
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1212 predictions. Top by Δscore:

Variant	Effect	Δscore
17:6800076:T:TA	donor_gain	1.0000
17:6800101:T:TA	donor_gain	1.0000
17:6800107:T:C	donor_gain	1.0000
17:6800945:T:C	acceptor_gain	1.0000
17:6812825:CCTCA:C	donor_loss	1.0000
17:6812826:CTCA:C	donor_loss	1.0000
17:6812827:TCAC:T	donor_loss	1.0000
17:6812828:CACCT:C	donor_loss	1.0000
17:6812829:A:C	donor_loss	1.0000
17:6812830:C:CA	donor_loss	1.0000
17:6815158:CTCA:C	donor_gain	1.0000
17:6815159:TCA:T	donor_loss	1.0000
17:6815160:CACT:C	donor_loss	1.0000
17:6815161:A:AC	donor_gain	1.0000
17:6815162:C:A	donor_loss	1.0000
17:6815162:C:CT	donor_gain	1.0000
17:6815162:CT:C	donor_gain	1.0000
17:6815162:CTT:C	donor_gain	1.0000
17:6815307:C:CC	acceptor_gain	1.0000
17:6815959:CTCC:C	acceptor_gain	1.0000
17:6815961:CC:C	acceptor_gain	1.0000
17:6815962:CC:C	acceptor_gain	1.0000
17:6815962:CCTG:C	acceptor_loss	1.0000
17:6815963:C:CC	acceptor_gain	1.0000
17:6815963:C:CG	acceptor_loss	1.0000
17:6815964:T:C	acceptor_loss	1.0000
17:6815967:C:CT	acceptor_gain	1.0000
17:6800077:C:A	donor_gain	0.9900
17:6800124:T:TA	donor_gain	0.9900
17:6800146:CTTTG:C	donor_gain	0.9900

AlphaMissense

2767 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:6815298:C:G	R165P	0.992
17:6813034:A:G	W217R	0.991
17:6813034:A:T	W217R	0.991
17:6815280:A:G	L171P	0.991
17:6830254:G:C	S41R	0.990
17:6830254:G:T	S41R	0.990
17:6830256:T:G	S41R	0.990
17:6830331:A:G	W16R	0.988
17:6830331:A:T	W16R	0.988
17:6830329:C:A	W16C	0.987
17:6830329:C:G	W16C	0.987
17:6813001:C:G	A228P	0.986
17:6815834:C:G	R162P	0.986
17:6815962:C:A	R119S	0.985
17:6815962:C:G	R119S	0.985
17:6815258:C:A	K178N	0.984
17:6815258:C:G	K178N	0.984
17:6812980:A:G	S235P	0.982
17:6800102:C:A	R394S	0.981
17:6800102:C:G	R394S	0.981
17:6815228:G:C	C188W	0.980
17:6813032:C:A	W217C	0.979
17:6813032:C:G	W217C	0.979
17:6815955:G:T	R122S	0.978
17:6819277:A:G	L91P	0.978
17:6815251:C:G	A181P	0.977
17:6830298:C:G	A27P	0.977
17:6819333:G:C	F72L	0.976
17:6819333:G:T	F72L	0.976
17:6819335:A:G	F72L	0.976

dbSNP variants (sampled 300 via entrez): RS1000010783 (17:6826105 T>G), RS1000047301 (17:6829372 A>G), RS1000069478 (17:6811690 G>C), RS1000145490 (17:6828903 G>C), RS1000155024 (17:6830058 C>T), RS1000174390 (17:6819926 G>T), RS1000178768 (17:6814545 A>C), RS1000259943 (17:6831246 T>C), RS1000279394 (17:6806437 T>A), RS1000397689 (17:6814724 G>A), RS1000534807 (17:6817218 A>G), RS1000691786 (17:6819743 A>G), RS1000768625 (17:6827475 G>A,C), RS1000887275 (17:6801624 C>G,T), RS1000962798 (17:6815723 G>A)

Disease associations

OMIM: gene MIM:609002 | disease phenotypes:

GenCC curated gene-disease

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
primary ciliary dyskinesia	Disputed	AR

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST003124_16	Mild influenza (H1N1) infection	2.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:1001488	influenza A (H1N1)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066431 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	decreases expression	2
2,3-pentanedione	decreases expression	1
bisphenol S	increases methylation	1
Air Pollutants	increases abundance, increases expression	1
Cadmium	decreases expression, increases abundance	1
Diacetyl	decreases expression	1
Smoke	increases abundance, increases expression	1
Cadmium Chloride	increases abundance, decreases expression	1
Okadaic Acid	increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652991	Binding	Binding affinity to human TEKT1 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.