TEKTIP1

Summary

TEKTIP1 (tektin bundle interacting protein 1, HGNC:34496) is a protein-coding gene on chromosome 19p13.3, encoding Tektin bundle-interacting protein 1 (A6NCJ1). Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating.

Predicted to be involved in flagellated sperm motility. Predicted to be located in axonemal microtubule. Predicted to be active in axonemal A tubule inner sheath and sperm flagellum.

Source: NCBI Gene 100128569 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 1 total
• MANE Select transcript: NM_001135580

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:34496
Approved symbol	TEKTIP1
Name	tektin bundle interacting protein 1
Location	19p13.3
Locus type	gene with protein product
Status	Approved
Aliases	LOC100128569
Ensembl gene	ENSG00000183397
Ensembl biotype	protein_coding
Entrez	100128569

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000329493, ENST00000681976

RefSeq mRNA: 1 — MANE Select: NM_001135580 NM_001135580

CCDS: CCDS45918

Canonical transcript exons

ENST00000329493 — 4 exons

Exon	Start	End
ENSE00001303782	3543555	3543680
ENSE00001314155	3539174	3539260
ENSE00001320171	3543829	3544030
ENSE00001325211	3543235	3543473

Expression profiles

Bgee: expression breadth ubiquitous, 131 present calls, max score 93.13.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0981 / max 97.4344, expressed in 5 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
173206	0.0981	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	93.13	gold quality
left testis	UBERON:0004533	92.83	gold quality
right hemisphere of cerebellum	UBERON:0014890	92.29	gold quality
cerebellar hemisphere	UBERON:0002245	91.94	gold quality
testis	UBERON:0000473	91.93	gold quality
cerebellar cortex	UBERON:0002129	91.76	gold quality
cerebellum	UBERON:0002037	91.68	gold quality
right uterine tube	UBERON:0001302	91.30	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.84	gold quality
right lobe of thyroid gland	UBERON:0001119	87.37	gold quality
pituitary gland	UBERON:0000007	87.14	gold quality
left lobe of thyroid gland	UBERON:0001120	86.91	gold quality
thyroid gland	UBERON:0002046	86.68	gold quality
granulocyte	CL:0000094	86.31	gold quality
adenohypophysis	UBERON:0002196	85.27	gold quality
metanephros cortex	UBERON:0010533	85.04	gold quality
adult mammalian kidney	UBERON:0000082	83.18	gold quality
blood	UBERON:0000178	82.54	gold quality
cortex of kidney	UBERON:0001225	81.91	gold quality
endocervix	UBERON:0000458	81.81	gold quality
nucleus accumbens	UBERON:0001882	81.51	gold quality
left ovary	UBERON:0002119	81.40	gold quality
spleen	UBERON:0002106	81.36	gold quality
body of uterus	UBERON:0009853	80.98	gold quality
small intestine Peyer’s patch	UBERON:0003454	80.82	gold quality
stromal cell of endometrium	CL:0002255	80.50	gold quality
monocyte	CL:0000576	80.46	gold quality
right coronary artery	UBERON:0001625	80.27	gold quality
tibial nerve	UBERON:0001323	80.20	gold quality
leukocyte	CL:0000738	80.18	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.08

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tektip1	ENSMUSG00000020234
rattus_norvegicus	Tektip1	ENSRNOG00000039861

Protein

Protein identifiers

Tektin bundle-interacting protein 1 — A6NCJ1 (reviewed: A6NCJ1)

All UniProt accessions (2): A0A804HK34, A6NCJ1

UniProt curated annotations — full annotation on UniProt →

Function. Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating. Located at the center of the tektin bundle where may function to recruit tektins or stabilize the bundle.

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

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

RefSeq proteins (1): NP_001129052* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029203	TKTI1	Family

Pfam: PF15041

UniProt features (3 total): sequence variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NCJ1-F1	41.76	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 40 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_UP, DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_DN, DARWICHE_SQUAMOUS_CELL_CARCINOMA_UP, GOBP_CILIUM_MOVEMENT, GOBP_CILIUM_OR_FLAGELLUM_DEPENDENT_CELL_MOTILITY, GOCC_CYTOPLASMIC_REGION, GOCC_MOTILE_CILIUM, GOCC_CYTOPLASMIC_MICROTUBULE, chr19p13, GOCC_CILIUM, MIKKELSEN_IPS_HCP_WITH_H3_UNMETHYLATED, MIKKELSEN_MEF_HCP_WITH_H3_UNMETHYLATED, GOCC_AXONEMAL_MICROTUBULE

GO Biological Process (1): flagellated sperm motility (GO:0030317)

GO Molecular Function (0):

GO Cellular Component (8): axonemal microtubule (GO:0005879), sperm flagellum (GO:0036126), axonemal A tubule inner sheath (GO:0160111), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), 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	1
cilium movement involved in cell motility	1
sperm motility	1
cytoplasmic microtubule	1
axoneme	1
9+2 motile cilium	1
A axonemal microtubule	1
axonemal microtubule doublet inner sheath	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cilium	1

Protein interactions and networks

STRING

602 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TEKTIP1	EFHC2	Q5JST6	606
TEKTIP1	CFAP161	Q6P656	595
TEKTIP1	EFCAB6	Q5THR3	592
TEKTIP1	CIMIP2B	A8MTA8	576
TEKTIP1	PIERCE1	Q5BN46	506
TEKTIP1	ADAM32	Q8TC27	465
TEKTIP1	EFHC1	Q5JVL4	428
TEKTIP1	PIERCE2	H3BRN8	419
TEKTIP1	CLXN	Q9HAE3	412
TEKTIP1	ADAM2	P78326	406
TEKTIP1	WBP11	Q9Y2W2	400
TEKTIP1	IFT38	Q96AJ1	377
TEKTIP1	GLMN	Q92990	375
TEKTIP1	HSPA1L	P34931	372
TEKTIP1	TEKT5	Q96M29	345

IntAct

0 interactions, top by confidence:

BioGRID (3): C19orf71 (Affinity Capture-RNA), C19orf71 (Affinity Capture-MS), C19orf71 (Affinity Capture-RNA)

ESM2 similar proteins: A0A1B0GVB3, A2RRY8, A4D263, A5LFW8, A5PJD8, A6H6Q4, A6NCJ1, A8IVJ1, A9CB94, C9J302, E1B9I5, O10439, O12165, O74317, P03319, P03321, P0C9Z5, P0C9Z6, P10260, P10261, P36353, P68962, P68963, Q00111, Q197A9, Q2HR73, Q2KIR0, Q2M2T2, Q32L77, Q32LJ5, Q3TTI8, Q4V7B2, Q5NC83, Q5XHC1, Q68FQ8, Q6PKN7, Q6ZNM6, Q74127, Q75EZ5, Q811V6

Diamond homologs: A5LFW8, A6H6Q4, A6NCJ1, Q2M2T2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

690 predictions. Top by Δscore:

Variant	Effect	Δscore
19:3543233:A:AG	acceptor_gain	1.0000
19:3543233:AGC:A	acceptor_gain	1.0000
19:3543234:G:GG	acceptor_gain	1.0000
19:3543234:GC:G	acceptor_gain	1.0000
19:3543234:GCG:G	acceptor_gain	1.0000
19:3543234:GCGAT:G	acceptor_gain	1.0000
19:3543252:T:TA	acceptor_gain	1.0000
19:3543453:G:GG	donor_gain	1.0000
19:3543230:CTCA:C	acceptor_loss	0.9900
19:3543231:TCA:T	acceptor_loss	0.9900
19:3543232:CAG:C	acceptor_loss	0.9900
19:3543234:GCGA:G	acceptor_gain	0.9900
19:3543235:C:CA	acceptor_gain	0.9900
19:3543448:ACACC:A	donor_gain	0.9900
19:3543451:CC:C	donor_gain	0.9900
19:3539263:GA:G	donor_loss	0.9800
19:3543253:G:A	acceptor_gain	0.9800
19:3543472:GG:G	donor_gain	0.9800
19:3543473:GG:G	donor_gain	0.9800
19:3543553:A:AG	acceptor_gain	0.9800
19:3543554:G:GG	acceptor_gain	0.9800
19:3543827:A:AG	acceptor_gain	0.9800
19:3543828:G:GG	acceptor_gain	0.9800
19:3543450:ACC:A	donor_gain	0.9700
19:3543227:A:AG	acceptor_gain	0.9600
19:3543228:C:G	acceptor_gain	0.9600
19:3543449:CACC:C	donor_gain	0.9600
19:3543474:GTG:G	donor_loss	0.9600
19:3543475:T:G	donor_loss	0.9600
19:3543476:G:GT	donor_loss	0.9600

AlphaMissense

1327 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:3543296:T:A	W49R	0.901
19:3543296:T:C	W49R	0.901
19:3543632:T:A	W134R	0.857
19:3543632:T:C	W134R	0.857
19:3543634:G:C	W134C	0.853
19:3543634:G:T	W134C	0.853
19:3543433:G:C	W94C	0.847
19:3543433:G:T	W94C	0.847
19:3539241:T:C	F22L	0.846
19:3539243:C:A	F22L	0.846
19:3539243:C:G	F22L	0.846
19:3543298:G:C	W49C	0.841
19:3543298:G:T	W49C	0.841
19:3543647:T:A	W139R	0.834
19:3543647:T:C	W139R	0.834
19:3543649:G:C	W139C	0.815
19:3543649:G:T	W139C	0.815
19:3543839:G:C	R153S	0.792
19:3543839:G:T	R153S	0.792
19:3543576:A:T	E115V	0.784
19:3543314:G:A	G55R	0.779
19:3543314:G:C	G55R	0.779
19:3543673:G:C	K147N	0.777
19:3543673:G:T	K147N	0.777
19:3543410:T:C	F87L	0.774
19:3543412:C:A	F87L	0.774
19:3543412:C:G	F87L	0.774
19:3543301:G:C	K50N	0.756
19:3543301:G:T	K50N	0.756
19:3543431:T:A	W94R	0.754

dbSNP variants (sampled 300 via entrez): RS1000042985 (19:3537444 C>T), RS1000861814 (19:3539048 C>A,G,T), RS1001138191 (19:3544429 A>G), RS1001295935 (19:3541534 G>A), RS1001367325 (19:3542627 C>T), RS1001481416 (19:3542496 C>CA), RS1001637209 (19:3539165 G>A,C,T), RS1001699239 (19:3543639 G>A), RS1001730263 (19:3543566 C>A), RS1001938310 (19:3540272 T>G), RS1001972648 (19:3539686 T>G), RS1002602779 (19:3538497 T>C), RS1002966544 (19:3537341 C>A), RS1003043656 (19:3538323 G>A), RS1003381678 (19:3540438 A>C,G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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
butyraldehyde	increases expression	1
pentanal	increases expression	1
jinfukang	increases expression	1
Cisplatin	decreases expression	1
Silicon Dioxide	decreases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases methylation	1
Acrylamide	decreases expression	1

Clinical trials (associated diseases)

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