KTN1

Summary

KTN1 (kinectin 1, HGNC:6467) is a protein-coding gene on chromosome 14q22.3, encoding Kinectin (Q86UP2). Receptor for kinesin thus involved in kinesin-driven vesicle motility.

This gene encodes an integral membrane protein that is a member of the kinectin protein family. The encoded protein is primarily localized to the endoplasmic reticulum membrane. This protein binds kinesin and may be involved in intracellular organelle motility. This protein also binds translation elongation factor-delta and may be involved in the assembly of the elongation factor-1 complex. Alternate splicing results in multiple transcript variants of this gene.

Source: NCBI Gene 3895 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 85 total
• Druggable target: yes
• MANE Select transcript: NM_001079521

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6467
Approved symbol	KTN1
Name	kinectin 1
Location	14q22.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0004, CG1, KNT
Ensembl gene	ENSG00000126777
Ensembl biotype	protein_coding
OMIM	600381
Entrez	3895

Gene structure

Transcript identifiers

Ensembl transcripts: 106 — 96 protein_coding, 7 retained_intron, 3 nonsense_mediated_decay

ENST00000334975, ENST00000395308, ENST00000395309, ENST00000395311, ENST00000395314, ENST00000413890, ENST00000438792, ENST00000459737, ENST00000553360, ENST00000553624, ENST00000553710, ENST00000554294, ENST00000554306, ENST00000554507, ENST00000554567, ENST00000554570, ENST00000554831, ENST00000554890, ENST00000555164, ENST00000555172, ENST00000555498, ENST00000555506, ENST00000555573, ENST00000556631, ENST00000557267, ENST00000900484, ENST00000900485, ENST00000900486, ENST00000900487, ENST00000900488, ENST00000900489, ENST00000900490, ENST00000900491, ENST00000900492, ENST00000900493, ENST00000900494, ENST00000900495, ENST00000900496, ENST00000900497, ENST00000900498, ENST00000900499, ENST00000900500, ENST00000900501, ENST00000935580, ENST00000935581, ENST00000935582, ENST00000935583, ENST00000935584, ENST00000935585, ENST00000935586, ENST00000935587, ENST00000935588, ENST00000935589, ENST00000935590, ENST00000935591, ENST00000935592, ENST00000935593, ENST00000935594, ENST00000935595, ENST00000935596, ENST00000935597, ENST00000935598, ENST00000935599, ENST00000935600, ENST00000935601, ENST00000958868, ENST00000958869, ENST00000958870, ENST00000958871, ENST00000958872, ENST00000958873, ENST00000958874, ENST00000958875, ENST00000958876, ENST00000958877, ENST00000958878, ENST00000958879, ENST00000958880, ENST00000958881, ENST00000958882, ENST00000958883, ENST00000958884, ENST00000958885, ENST00000958886, ENST00000958887, ENST00000958888, ENST00000958889, ENST00000958890, ENST00000958891, ENST00000958892, ENST00000958893, ENST00000958894, ENST00000958895, ENST00000958896, ENST00000958897, ENST00000958898, ENST00000958899, ENST00000958900, ENST00000958901, ENST00000958902, ENST00000958903, ENST00000958904, ENST00000958905, ENST00000958906, ENST00000958907, ENST00000958908

RefSeq mRNA: 32 — MANE Select: NM_001079521 NM_001079521, NM_001079522, NM_001271014, NM_001402682, NM_001402683, NM_001402684, NM_001402685, NM_001402686, NM_001402687, NM_001402688, NM_001402689, NM_001402690, NM_001402691, NM_001402692, NM_001402693, NM_001402694, NM_001402696, NM_001402698, NM_001402699, NM_001402700, NM_001402701, NM_001402702, NM_001402703, NM_001402704, NM_001402705, NM_001402706, NM_001402707, NM_001402708, NM_001402709, NM_001402710, NM_001402711, NM_004986

CCDS: CCDS41957, CCDS41958, CCDS41959

Canonical transcript exons

ENST00000395314 — 44 exons

Exon	Start	End
ENSE00000867279	55616517	55616654
ENSE00000867281	55617964	55618134
ENSE00000867283	55619182	55619312
ENSE00000867287	55629957	55630097
ENSE00000867292	55634526	55634658
ENSE00000867295	55637198	55637364
ENSE00000867299	55639185	55639222
ENSE00000867302	55639913	55640003
ENSE00000867304	55640374	55640442
ENSE00000867310	55641692	55641760
ENSE00000867317	55650328	55650418
ENSE00000867319	55650569	55650637
ENSE00000867350	55673172	55673255
ENSE00001302817	55649776	55649813
ENSE00001304035	55648025	55648115
ENSE00001315010	55641127	55641208
ENSE00001321844	55637779	55637847
ENSE00001327894	55648802	55648870
ENSE00001329997	55640933	55640970
ENSE00001340452	55646973	55647007
ENSE00001853606	55580207	55580354
ENSE00002199504	55612019	55612571
ENSE00003466744	55661522	55661612
ENSE00003478994	55653559	55653596
ENSE00003482414	55633235	55633341
ENSE00003495390	55672630	55672701
ENSE00003507891	55656042	55656132
ENSE00003509510	55653017	55653085
ENSE00003532262	55651890	55651927
ENSE00003533338	55627912	55628028
ENSE00003539693	55684099	55684579
ENSE00003542734	55659666	55659703
ENSE00003563334	55658546	55658614
ENSE00003566594	55636449	55636536
ENSE00003575320	55672929	55673012
ENSE00003603459	55678352	55678444
ENSE00003605641	55667241	55667330
ENSE00003609572	55671785	55671877
ENSE00003619755	55670729	55670809
ENSE00003628585	55652850	55652940
ENSE00003656060	55675835	55675918
ENSE00003658279	55671566	55671655
ENSE00003661390	55663955	55664041
ENSE00003686047	55679565	55679685

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 99.52.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 65.4522 / max 2062.4178, expressed in 1806 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
139735	60.2673	1805
139737	3.5557	1208
139734	0.9103	208
139736	0.4076	204
139751	0.1895	74
139750	0.0748	12
139749	0.0470	10

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	99.52	gold quality
gluteal muscle	UBERON:0002000	99.35	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	99.25	gold quality
biceps brachii	UBERON:0001507	99.22	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	99.11	gold quality
male germ cell	CL:0000015	99.09	gold quality
choroid plexus epithelium	UBERON:0003911	99.09	gold quality
renal medulla	UBERON:0000362	99.08	gold quality
mucosa of paranasal sinus	UBERON:0005030	99.08	gold quality
colonic epithelium	UBERON:0000397	99.07	gold quality
vastus lateralis	UBERON:0001379	99.03	gold quality
adrenal tissue	UBERON:0018303	98.95	gold quality
body of tongue	UBERON:0011876	98.93	gold quality
calcaneal tendon	UBERON:0003701	98.92	gold quality
gastrocnemius	UBERON:0001388	98.90	gold quality
skeletal muscle tissue	UBERON:0001134	98.89	gold quality
deltoid	UBERON:0001476	98.89	gold quality
cranial nerve II	UBERON:0000941	98.88	gold quality
corpus callosum	UBERON:0002336	98.85	gold quality
pylorus	UBERON:0001166	98.84	gold quality
ventricular zone	UBERON:0003053	98.84	gold quality
muscle organ	UBERON:0001630	98.83	gold quality
muscle of leg	UBERON:0001383	98.82	gold quality
quadriceps femoris	UBERON:0001377	98.74	gold quality
tongue	UBERON:0001723	98.72	gold quality
triceps brachii	UBERON:0001509	98.71	gold quality
inferior vagus X ganglion	UBERON:0005363	98.68	gold quality
tibialis anterior	UBERON:0001385	98.64	gold quality
skin of hip	UBERON:0001554	98.64	gold quality
pigmented layer of retina	UBERON:0001782	98.64	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-125970	yes	25.68
E-GEOD-130148	yes	7.84
E-MTAB-8060	no	823.34
E-MTAB-7606	no	64.05
E-ANND-3	no	0.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
EGFR	Activation

miRNA regulators (miRDB)

29 targeting KTN1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-9718	99.94	68.91	918
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-577	99.78	69.13	2479
HSA-MIR-199A-3P	99.75	70.48	929
HSA-MIR-199B-3P	99.75	70.48	929
HSA-MIR-3129-5P	99.75	70.46	914
HSA-MIR-3618	99.69	68.57	1012
HSA-MIR-3177-5P	99.65	70.38	1174
HSA-MIR-4762-3P	99.43	69.72	2363
HSA-MIR-4666A-5P	99.41	69.72	1887
HSA-MIR-219A-1-3P	98.91	67.87	639
HSA-MIR-16-1-3P	98.70	69.23	1538
HSA-MIR-6868-3P	98.63	69.64	2259
HSA-MIR-9903	98.47	66.70	748
HSA-MIR-1248	98.47	67.54	1314
HSA-MIR-548AT-3P	98.37	64.98	580
HSA-MIR-548AY-3P	98.37	65.14	562
HSA-MIR-541-5P	98.24	67.77	1181
HSA-MIR-526B-5P	97.41	67.99	1074
HSA-MIR-4714-5P	97.04	67.76	955

Literature-anchored findings (GeneRIF, showing 21)

• The presence of coiled-coil domains in the ktn1/ret fusion protein (PTC8) suggests ligand-independent dimerization and thus constitutive activation of the ret tyrosine kinase domain. (PMID:10850414)
• kinectin is markedly enriched at integrin-based adhesion complexes, induced by clustering integrins with fibronectin-coated beads (PMID:11973345)
• The data suggests that both KNT and KNTvd4(-) participate in microtubule-dependent secretion of amylin in islet beta-cells. (PMID:16890462)
• anchoring the elongation factor-1 complex onto endoplasmic reticulum via EF-1delta/kinectin interaction is important for regulating protein synthesis in eukaryotic cells (PMID:16950774)
• When kinesin binds with both heads to the microtubule, the neck linkers in the rear and forward heads extend forward and backward. This supports the notion that neck linker movements accompany the ‘hand-over-hand’ motion of the two motor domains. (PMID:17013387)
• A large number of variations were found in many of the genes (myozenin 1, gamma-filamin, kinectin-1) in patients with limb-girdle muscular dystrophies and controls. (PMID:19472918)
• Kinectin is concentrated in the perinuclear sheets of the endoplasmic reticulum by interacting with polysomes. Kinectin may play a role in determinining the morphology of the endoplasmic reticulum. (PMID:21111237)
• The genes identified KTN1, ROCK1, and ZAK may be responsible for loss of cellular homeostasis in giant cells tumors of bone (PMID:21305317)
• The kinesin-1 deficiency weakened intercellular adhesion, despite the maintenance of adherens junctions and other desmosome components at the plasma membrane. (PMID:22184201)
• Kinectin may have the ability to anchor mRNAs to the surface of the endoplasmic reticulum. (PMID:22679391)
• Our results show that kinectin-dependent ER distribution can be localized by chemoattractants and provide a mechanism for biased protrusion choices during chemotaxis in shallow gradients of chemoattractants. (PMID:27221621)
• Significant association between rs12895072 and rs12434554 within the KTN1 gene and accelerated decline in Cognition performance in Chinese elderly male Gout population. (PMID:28953682)
• Erbb2 interacting protein (ERBB2IP), a known target of miR-23c, was positively regulated by KTN1-AS1. (PMID:30551364)
• Significant, replicable, and functional associations between KTN1 variants and alcohol and drug codependence. (PMID:32115811)
• KTN1 variants and risk for attention deficit hyperactivity disorder. (PMID:32190980)
• Rab18 regulates focal adhesion dynamics by interacting with kinectin-1 at the endoplasmic reticulum. (PMID:32525992)
• Associations of attention distractibility with attention deficit and with variation in the KTN1 gene. (PMID:32956741)
• Kinectin 1 promotes the growth of triple-negative breast cancer via directly co-activating NF-kappaB/p65 and enhancing its transcriptional activity. (PMID:34219129)
• Human microRNA-182-5p and kinectin 1: Potential biomarkers for prognosis in oral squamous cell carcinoma. (PMID:34591354)
• A genetic and transcriptomic assessment of the KTN1 gene in Parkinson’s disease risk. (PMID:37992546)
• KTN1 mediated unfolded protein response protects keratinocytes from ionizing radiation-induced DNA damage. (PMID:38448340)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	ktn1	ENSDARG00000032802
mus_musculus	Ktn1	ENSMUSG00000021843
rattus_norvegicus	Ktn1	ENSRNOG00000012255

Protein

Protein identifiers

Kinectin — Q86UP2 (reviewed: Q86UP2)

Alternative names: CG-1 antigen, Kinesin receptor

All UniProt accessions (12): Q86UP2, B7Z6P3, G3V475, G3V4L8, G3V4Y7, G3V5G2, G3V5P0, G3V5Q0, H0YJB7, H0YJP2, H0YJV5, H0YJZ8

UniProt curated annotations — full annotation on UniProt →

Function. Receptor for kinesin thus involved in kinesin-driven vesicle motility. Accumulates in integrin-based adhesion complexes (IAC) upon integrin aggregation by fibronectin.

Subunit / interactions. Parallel homodimers formed between the membrane-bound and the cytosolic form, and also between 2 cytosolic forms.

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. High levels in peripheral blood lymphocytes, testis and ovary, lower levels in spleen, thymus, prostate, small intestine and colon.

Similarity. Belongs to the kinectin family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q86UP2-1	1	yes
Q86UP2-2	2
Q86UP2-3	3
Q86UP2-4	4

RefSeq proteins (32): NP_001072989, NP_001072990, NP_001257943, NP_001389611, NP_001389612, NP_001389613, NP_001389614, NP_001389615, NP_001389616, NP_001389617, NP_001389618, NP_001389619, NP_001389620, NP_001389621, NP_001389622, NP_001389623, NP_001389625, NP_001389627, NP_001389628, NP_001389629, NP_001389630, NP_001389631, NP_001389632, NP_001389633, NP_001389634, NP_001389635, NP_001389636, NP_001389637, NP_001389638, NP_001389639, NP_001389640, NP_004977 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007794	Rib_rcpt_KP	Domain
IPR024854	Kinectin	Family

Pfam: PF05104

UniProt features (35 total): glycosylation site 8, modified residue 6, sequence variant 4, sequence conflict 4, splice variant 3, compositionally biased region 3, topological domain 2, region of interest 2, chain 1, transmembrane region 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86UP2-F1	71.93	0.08

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (6): 75, 77, 153, 156, 1084, 1313

Glycosylation sites (8): 172, 435, 772, 904, 1055, 1088, 1263, 1329

Function

Pathways and Gene Ontology

Reactome pathways

16 pathways

ID	Pathway
R-HSA-381426	Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
R-HSA-5625970	RHO GTPases activate KTN1
R-HSA-8957275	Post-translational protein phosphorylation
R-HSA-8980692	RHOA GTPase cycle
R-HSA-9013148	CDC42 GTPase cycle
R-HSA-9013149	RAC1 GTPase cycle
R-HSA-9013408	RHOG GTPase cycle
R-HSA-9696264	RND3 GTPase cycle
R-HSA-9696270	RND2 GTPase cycle
R-HSA-162582	Signal Transduction
R-HSA-194315	Signaling by Rho GTPases
R-HSA-195258	RHO GTPase Effectors
R-HSA-392499	Metabolism of proteins
R-HSA-597592	Post-translational protein modification
R-HSA-9012999	RHO GTPase cycle
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3

MSigDB gene sets: 215 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, SHAFFER_IRF4_TARGETS_IN_ACTIVATED_B_LYMPHOCYTE, MEF2_02, SREBP1_02, WEI_MYCN_TARGETS_WITH_E_BOX, MYOD_01, FOSTER_TOLERANT_MACROPHAGE_UP, BLALOCK_ALZHEIMERS_DISEASE_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_UP, ACATTCC_MIR1_MIR206, MCBRYAN_PUBERTAL_BREAST_5_6WK_UP, HIF1_Q3, SCHLOSSER_SERUM_RESPONSE_DN, HAHTOLA_SEZARY_SYNDROM_UP, CTGYNNCTYTAA_UNKNOWN

GO Biological Process (2): microtubule-based movement (GO:0007018), protein transport (GO:0015031)

GO Molecular Function (4): RNA binding (GO:0003723), kinesin binding (GO:0019894), cadherin binding (GO:0045296), protein binding (GO:0005515)

GO Cellular Component (5): endoplasmic reticulum (GO:0005783), endoplasmic reticulum lumen (GO:0005788), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-7 pathways:

Category	Pathways
RHO GTPase cycle	6
Metabolism of proteins	2
Signaling by Rho GTPases	2
RHO GTPase Effectors	1
Post-translational protein modification	1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
Signal Transduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
microtubule-based process	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
nucleic acid binding	1
cytoskeletal protein binding	1
cell adhesion molecule binding	1
binding	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
endoplasmic reticulum	1
intracellular organelle lumen	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

2559 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KTN1	EEF1D	P29692	920
KTN1	CKAP4	Q07065	643
KTN1	EEF1B2	P24534	642
KTN1	RHOG	P35238	624
KTN1	EEF1G	P26641	622
KTN1	KLC1	Q07866	603
KTN1	TTC28	Q96AY4	534
KTN1	DLK2	Q6UY11	531
KTN1	NEURL4	Q96JN8	531
KTN1	ATL2	Q8NHH9	518
KTN1	ATL3	Q6DD88	518
KTN1	KIFBP	Q96EK5	511
KTN1	KIF5C	O60282	503
KTN1	ATL1	Q8WXF7	481
KTN1	STIM1	Q13586	477

IntAct

214 interactions, top by confidence:

A	B	Type	Score
EEF1G	EEF1B2	psi-mi:“MI:0914”(association)	0.890
CAPN1	CAPNS1	psi-mi:“MI:0914”(association)	0.840
CDR2	KTN1	psi-mi:“MI:0914”(association)	0.730
PSMD7	PSMD11	psi-mi:“MI:0914”(association)	0.730
DYNLL1	BLTP3B	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CANX	PGRMC1	psi-mi:“MI:0914”(association)	0.570
KTN1	MEOX2	psi-mi:“MI:0915”(physical association)	0.560
KTN1	SGTA	psi-mi:“MI:0915”(physical association)	0.560
BNIP3	KTN1	psi-mi:“MI:0915”(physical association)	0.560
SYNE4	KTN1	psi-mi:“MI:0915”(physical association)	0.560
KTN1	CLEC7A	psi-mi:“MI:0915”(physical association)	0.560
MEOX2	KTN1	psi-mi:“MI:0915”(physical association)	0.560
SGTA	KTN1	psi-mi:“MI:0915”(physical association)	0.560
KTN1	SYNE4	psi-mi:“MI:0915”(physical association)	0.560
CLEC7A	KTN1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (468): KTN1 (Two-hybrid), MEOX2 (Two-hybrid), SGTA (Two-hybrid), CLEC7A (Two-hybrid), SYNE4 (Two-hybrid), KTN1 (Affinity Capture-MS), KTN1 (Affinity Capture-MS), KTN1 (Affinity Capture-MS), KTN1 (Affinity Capture-MS), KTN1 (Affinity Capture-MS), KTN1 (Affinity Capture-MS), KTN1 (Affinity Capture-MS), KTN1 (Affinity Capture-MS), KTN1 (Affinity Capture-MS), KTN1 (Affinity Capture-MS)

ESM2 similar proteins: D3ZZL9, E9Q1U1, F4I9A2, O75330, O97961, P49454, P61430, P97779, Q00547, Q03410, Q0VBY1, Q13439, Q14789, Q15075, Q15643, Q28628, Q4R7H3, Q53EZ4, Q5M7B7, Q5RI56, Q5T9S5, Q60563, Q61595, Q62209, Q640L5, Q6TFL3, Q70FJ1, Q7FAD5, Q861Q8, Q86UP2, Q8BL66, Q8CDI7, Q8CHG3, Q8HYY4, Q8IWJ2, Q8NB25, Q8NCX0, Q8R5M4, Q90631, Q90Z16

Diamond homologs: O97961, Q28298, Q61595, Q86UP2, Q90631, Q99PL5, Q9P2E9

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
KTN1	up-regulates	KIF5B	binding
KTN1	“up-regulates quantity by expression”	EGFR	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 210 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Eukaryotic Translation Elongation	7	13.5×	3e-05
SRP-dependent cotranslational protein targeting to membrane	17	11.8×	4e-11
Response of EIF2AK4 (GCN2) to amino acid deficiency	15	11.6×	9e-10
Signaling by high-kinase activity BRAF mutants	5	11.0×	2e-03
L13a-mediated translational silencing of Ceruloplasmin expression	15	10.5×	2e-09
Formation of the ternary complex, and subsequently, the 43S complex	7	10.5×	1e-04
GTP hydrolysis and joining of the 60S ribosomal subunit	15	10.4×	2e-09
Formation of a pool of free 40S subunits	13	10.1×	6e-08

GO biological processes:

GO term	Partners	Fold	FDR
tail-anchored membrane protein insertion into ER membrane	5	24.8×	6e-04
cytoplasmic translation	14	13.7×	2e-09
translational initiation	6	11.4×	3e-03
ERAD pathway	8	7.7×	3e-03
translation	14	7.6×	3e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	3
Benign	6

Top pathogenic / likely-pathogenic (0)

SpliceAI

6231 predictions. Top by Δscore:

Variant	Effect	Δscore
14:55612124:T:TA	acceptor_gain	1.0000
14:55612566:G:GT	donor_gain	1.0000
14:55616505:T:TA	acceptor_gain	1.0000
14:55616510:A:AG	acceptor_gain	1.0000
14:55616511:A:G	acceptor_gain	1.0000
14:55616513:A:AG	acceptor_gain	1.0000
14:55616514:A:AG	acceptor_gain	1.0000
14:55616515:A:G	acceptor_gain	1.0000
14:55616516:G:GG	acceptor_gain	1.0000
14:55616516:GAT:G	acceptor_gain	1.0000
14:55617955:A:AG	acceptor_gain	1.0000
14:55617956:A:G	acceptor_gain	1.0000
14:55617957:A:AG	acceptor_gain	1.0000
14:55617960:GCA:G	acceptor_loss	1.0000
14:55617962:A:AG	acceptor_gain	1.0000
14:55617962:AG:A	acceptor_loss	1.0000
14:55617963:G:GT	acceptor_gain	1.0000
14:55617963:GT:G	acceptor_gain	1.0000
14:55617963:GTC:G	acceptor_gain	1.0000
14:55617963:GTCT:G	acceptor_gain	1.0000
14:55618009:T:TA	acceptor_gain	1.0000
14:55618012:T:TA	acceptor_gain	1.0000
14:55618133:AGGTA:A	donor_loss	1.0000
14:55618134:GGT:G	donor_loss	1.0000
14:55618135:G:C	donor_loss	1.0000
14:55618135:G:GG	donor_gain	1.0000
14:55619174:A:AG	acceptor_gain	1.0000
14:55619175:A:G	acceptor_gain	1.0000
14:55619176:A:AG	acceptor_gain	1.0000
14:55619177:T:G	acceptor_gain	1.0000

AlphaMissense

9024 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:55671804:T:C	L1153P	1.000
14:55663959:T:C	L1032P	0.999
14:55663988:G:C	A1042P	0.999
14:55633299:T:C	L429P	0.998
14:55633307:G:C	A432P	0.998
14:55634549:T:C	L451P	0.998
14:55663979:G:C	A1039P	0.998
14:55671645:T:C	L1143P	0.998
14:55671795:T:C	L1150S	0.998
14:55671816:T:A	V1157D	0.998
14:55612089:C:G	P14R	0.997
14:55663962:G:C	R1033P	0.997
14:55663994:G:C	A1044P	0.997
14:55671653:A:C	T1146P	0.997
14:55671654:C:T	T1146I	0.997
14:55671807:A:C	Q1154P	0.997
14:55671836:T:A	W1164R	0.997
14:55671836:T:C	W1164R	0.997
14:55673173:T:C	L1230P	0.997
14:55673182:T:C	L1233P	0.997
14:55637255:T:C	L536P	0.996
14:55663975:G:C	W1037C	0.996
14:55663975:G:T	W1037C	0.996
14:55671647:G:C	A1144P	0.996
14:55634582:T:C	L462P	0.995
14:55637243:T:C	L532P	0.995
14:55673206:T:C	L1241P	0.995
14:55673226:G:C	A1248P	0.995
14:55673248:T:C	L1255P	0.995
14:55612098:T:A	V17D	0.994

dbSNP variants (sampled 300 via entrez): RS1000006335 (14:55641367 A>C), RS1000053918 (14:55607843 T>C), RS1000063988 (14:55618770 C>T), RS1000064841 (14:55578677 G>A), RS1000067449 (14:55658746 T>C), RS1000082905 (14:55595487 T>A,G), RS1000096314 (14:55590686 T>C), RS1000130560 (14:55620008 C>T), RS1000247350 (14:55624336 A>G), RS1000270869 (14:55664408 A>G), RS1000282781 (14:55595245 C>T), RS1000284606 (14:55578324 A>G), RS1000300369 (14:55651819 A>G), RS1000337586 (14:55646439 T>C), RS1000361856 (14:55590467 C>A,T)

Disease associations

OMIM: gene MIM:600381 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST002756_1	Subcortical brain region volumes	1.000000e-33
GCST008153_6	Lean body mass	6.000000e-06
GCST008178_1	Early spontaneous preterm birth	5.000000e-06
GCST008369_12	Plasma anti-thyroglobulin levels	4.000000e-06
GCST008821_1	Neurofibrillary tangles	9.000000e-06
GCST010703_122	Brain morphology (MOSTest)	3.000000e-17

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004995	lean body mass
EFO:0006917	spontaneous preterm birth
EFO:0006797	neurofibrillary tangles measurement
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066522 (SINGLE PROTEIN)

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

ChEMBL bioactivities

4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.33	Kd	466.3	nM	CHEMBL5653589
6.33	ED50	466.3	nM	CHEMBL5653589
5.32	Kd	4845	nM	CHEMBL3752910
5.32	ED50	4845	nM	CHEMBL3752910

PubChem BioAssay actives

2 with measured affinity, of 4 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148632: Binding affinity to human KTN1 incubated for 45 mins by Kinobead based pull down assay	kd	0.4663	uM
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148632: Binding affinity to human KTN1 incubated for 45 mins by Kinobead based pull down assay	kd	4.8452	uM

CTD chemical–gene interactions

66 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol F	increases methylation, increases expression	2
bisphenol A	decreases expression, increases expression	2
sodium arsenite	increases abundance, increases expression, decreases expression	2
perfluorooctane sulfonic acid	decreases expression	2
Air Pollutants	affects cotreatment, decreases expression, increases abundance	2
Benzo(a)pyrene	affects methylation	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tobacco Smoke Pollution	affects expression, increases expression	2
Particulate Matter	increases expression, decreases expression, increases abundance	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
deoxynivalenol	increases expression	1
sodium arsenate	decreases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, increases expression, decreases expression	1
decabromobiphenyl ether	increases expression	1
kojic acid	decreases expression	1
methacrylaldehyde	increases abundance, affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
azoxystrobin	increases expression	1
CGP 52608	affects binding, increases reaction	1
deguelin	increases expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
ICG 001	decreases expression	1
bisphenol B	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
pentabrominated diphenyl ether 100	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
CHEMBL5651674	Binding	Binding affinity to human KTN1 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

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_E2AN	HAP1 KTN1 (-) 1	Cancer cell line	Male
CVCL_E2AP	HAP1 KTN1 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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