KIF5A

Summary

KIF5A (kinesin family member 5A, HGNC:6323) is a protein-coding gene on chromosome 12q13.3, encoding Kinesin heavy chain isoform 5A (Q12840). Microtubule-dependent motor required for slow axonal transport of neurofilament proteins (NFH, NFM and NFL).

This gene encodes a member of the kinesin family of proteins. Members of this family are part of a multisubunit complex that functions as a microtubule motor in intracellular organelle transport. Mutations in this gene cause autosomal dominant spastic paraplegia 10.

Source: NCBI Gene 3798 — RefSeq curated summary.

At a glance

• Gene–disease (curated): amyotrophic lateral sclerosis, susceptibility to, 25 (Definitive, ClinGen) — +4 more curated relationships
• GWAS associations: 4
• Clinical variants (ClinVar): 1,511 total — 41 pathogenic, 43 likely-pathogenic
• Phenotypes (HPO): 67
• Druggable target: yes
• MANE Select transcript: NM_004984

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6323
Approved symbol	KIF5A
Name	kinesin family member 5A
Location	12q13.3
Locus type	gene with protein product
Status	Approved
Aliases	D12S1889, NKHC, MY050
Ensembl gene	ENSG00000155980
Ensembl biotype	protein_coding
OMIM	602821
Entrez	3798

Gene structure

Transcript identifiers

Ensembl transcripts: 35 — 20 protein_coding, 6 retained_intron, 5 protein_coding_CDS_not_defined, 4 nonsense_mediated_decay

ENST00000286452, ENST00000455537, ENST00000552227, ENST00000674619, ENST00000674653, ENST00000674776, ENST00000674858, ENST00000674980, ENST00000675023, ENST00000675201, ENST00000675216, ENST00000675299, ENST00000675397, ENST00000675433, ENST00000675629, ENST00000675634, ENST00000675697, ENST00000675737, ENST00000675866, ENST00000675882, ENST00000675907, ENST00000675929, ENST00000675984, ENST00000676055, ENST00000676081, ENST00000676242, ENST00000676250, ENST00000676265, ENST00000676352, ENST00000676359, ENST00000676437, ENST00000676457, ENST00000910206, ENST00000910207, ENST00000938849

RefSeq mRNA: 2 — MANE Select: NM_004984 NM_001354705, NM_004984

CCDS: CCDS86312, CCDS8945

Canonical transcript exons

ENST00000455537 — 29 exons

Exon	Start	End
ENSE00001108582	57575640	57575757
ENSE00001108584	57575084	57575272
ENSE00001108590	57576761	57576862
ENSE00001108591	57582602	57582629
ENSE00001108592	57576269	57576378
ENSE00001108593	57576087	57576151
ENSE00001108595	57581870	57581952
ENSE00001108597	57577713	57577773
ENSE00001108598	57580956	57581172
ENSE00001108599	57578238	57578342
ENSE00001108600	57578009	57578080
ENSE00001108603	57581415	57581568
ENSE00001140437	57572580	57572726
ENSE00001140444	57572061	57572267
ENSE00001140452	57571321	57571389
ENSE00001140460	57569987	57570162
ENSE00001140469	57569535	57569683
ENSE00001140534	57583101	57583215
ENSE00001263322	57584218	57586633
ENSE00001264317	57569256	57569404
ENSE00001264336	57567126	57567213
ENSE00001264346	57564918	57564973
ENSE00001264351	57564460	57564508
ENSE00001264360	57563620	57563693
ENSE00001264365	57563439	57563526
ENSE00001264380	57550044	57550400
ENSE00001619453	57568963	57569067
ENSE00001656581	57564108	57564212
ENSE00001769835	57567494	57567618

Expression profiles

Bgee: expression breadth ubiquitous, 198 present calls, max score 99.84.

FANTOM5 (CAGE): breadth broad, TPM avg 47.8959 / max 21702.6648, expressed in 660 samples.

FANTOM5 promoters (22 alternative TSS)

Promoter ID	TPM avg	Samples expressed
126248	28.2395	587
126270	16.9996	352
126277	0.5882	88
126255	0.3197	90
126275	0.1851	62
126267	0.1754	71
126260	0.1507	60
126257	0.1464	46
126258	0.1408	38
126276	0.1397	53

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right frontal lobe	UBERON:0002810	99.84	gold quality
right hemisphere of cerebellum	UBERON:0014890	99.15	gold quality
cerebellar hemisphere	UBERON:0002245	98.84	gold quality
Brodmann (1909) area 9	UBERON:0013540	98.71	gold quality
cerebellar cortex	UBERON:0002129	98.65	gold quality
cortical plate	UBERON:0005343	98.65	gold quality
cingulate cortex	UBERON:0003027	98.08	gold quality
anterior cingulate cortex	UBERON:0009835	98.05	gold quality
prefrontal cortex	UBERON:0000451	97.96	gold quality
ganglionic eminence	UBERON:0004023	97.56	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	97.34	gold quality
amygdala	UBERON:0001876	96.72	gold quality
nucleus accumbens	UBERON:0001882	96.60	gold quality
caudate nucleus	UBERON:0001873	96.39	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	95.64	gold quality
cerebellum	UBERON:0002037	95.35	gold quality
putamen	UBERON:0001874	95.08	gold quality
neocortex	UBERON:0001950	94.84	gold quality
frontal cortex	UBERON:0001870	94.62	gold quality
adenohypophysis	UBERON:0002196	94.14	gold quality
spinal cord	UBERON:0002240	93.13	gold quality
hypothalamus	UBERON:0001898	93.10	gold quality
telencephalon	UBERON:0001893	93.08	gold quality
cerebral cortex	UBERON:0000956	92.67	gold quality
forebrain	UBERON:0001890	92.66	gold quality
endothelial cell	CL:0000115	92.50	silver quality
central nervous system	UBERON:0001017	92.27	gold quality
brain	UBERON:0000955	92.25	gold quality
pituitary gland	UBERON:0000007	90.82	gold quality
ventricular zone	UBERON:0003053	90.82	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-9154	yes	611.63
E-ANND-3	yes	4.99
E-GEOD-93593	no	14.23
E-GEOD-83139	no	2.76

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

80 targeting KIF5A, 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-6867-5P	100.00	82.21	3464
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-4302	99.89	67.94	1187
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-519D-3P	99.88	73.97	2607
HSA-MIR-93-5P	99.88	73.98	2606
HSA-MIR-526B-3P	99.88	74.06	2587

Literature-anchored findings (GeneRIF, showing 40)

• identification of a missense mutation in the motor domain of the neuronal kinesin heavy chain gene KIF5A, in a family with hereditary spastic paraplegia (PMID:12355402)
• An autosomal dominant phenotype for hereditary spastic paraplegia is due to a new missense mutation 838C>T (R280C) at an invariant arginine residue in a region involved in the microtubule-binding activity. (PMID:15452312)
• novel missense mutation in the KIF5A gene in a large kindred with uncomplicated autosomal dominant hereditary spastic paraplegia with an adult age of symptom onset (PMID:16489470)
• All mutations in KIF5A are single amino-acid exchanges and located in kinesin’s motor or neck domain and the mutation in the neck (A361V) did not change the gliding properties in vitro. (PMID:18203753)
• Three novel KIF5A mutations were detected in German families, including one missense mutation (c.759G>T, p.K253N), one in frame deletion (c.768_770delCAA, p.N256del) and one splice site mutation (c.217G>A). (PMID:18245137)
• In this study identified a novel missense mutation in KIF5A in an Italy family. (PMID:18500496)
• The neck linker and the neck are involved not only in motility generation in general and in determination of movement direction, but also in velocity regulation. (PMID:18640125)
• SPG10 mutations were found in 10% of our complicated forms of Hereditary spastic paraplegias (HSP), suggesting that mutations in KIF5A represent the major cause of complicated autosomal dominant hereditary spastic paraplegia in France. (PMID:18853458)
• rs1678542 in KIF5A confers susceptibility for multiple sclerosis. (PMID:20508602)
• Molecular genetic analysis identified a new missense mutation of KIF5A gene causing hereditary spastic paraplegia (PMID:21107874)
• Kinesin (KIF5A) can be potentially used as a blood biomarker to identify asbestosis patients at risk of developing lung cancer. (PMID:21231887)
• The results obtained indicate a KIF5A mutation frequency of 8.8% in the Italian HSP population and identify a region of the kinesin protein, the stalk domain, as a novel target for mutation. (PMID:21623771)
• A review of the mechanism of pathogenesis involved in spastic paraplegia type 10 when KIF5A is inactivated by mutations. (PMID:22785106)
• This study extends the phenotype of SPG10 and argues for abnormalities in the axonal vesicular transport. (PMID:22788249)
• These results provide an insight into the molecular mechanisms of KIF5A, which regulate inhibitory neural transmission and KIF5A deletion causes epilepsy. (PMID:23217743)
• Data suggest that the impairment of the microtubule-kinesin function by alpha-synuclein oligomers drives early neurite pathology. (PMID:23744071)
• Conformations of microtubule-bound human kinesin-5 motor domain were visualised at successive steps in its ATPase cycle. (PMID:24449904)
• the novel mutation p.Leu259Gln in two siblings affected by Hereditary spastic paraplegia (HSP) complicated by deafness and in their father with a pure form of HSP. (PMID:24939576)
• Combining next-generation sequencing and conventional sequencing, study confirms that KIF5A mutations can cause variable phenotypes ranging from hereditary spastic paraplegia to Charcot-Marie-Tooth disease type 2 (PMID:25008398)
• Kinesin-14 blocks microtubule nucleation in yeast and reveal that this inhibition is countered by the kinesin-5 protein, Cut7.[Cut7, Pkl1] (PMID:25348260)
• Variants in SPAST and KIF5A were the most common causes of autosomal dominant hereditary spastic paraplegia in Greece. The first nonsense mutation in KIF5A was identified in HSP patient. (PMID:26374131)
• study describes 2 Spanish families with an adult onset complicated autosomal dominant hereditary spastic paraplegia with a mild sensory neuropathy; identified 2 novel mutations c.773 C>T and c.833 C>T in the KIF5A gene resulting in the P258L and P278L substitutions; both were located in the highly conserved kinesin motor domain of the protein (PMID:26403765)
• We conclude that reduced expression of axonal motor KIF5A may have important implications in determining axonal transport deficits and ongoing neurodegeneration in multiple sclerosis (PMID:26785938)
• This report describes the first known Asian family with a KIF5A mutation and broadens the clinical and electrophysiological spectrum associated with KIF5A-SPG10 mutations. (PMID:27084214)
• KIF5A p.Ser974fs de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy. (PMID:27414745)
• De novo stop-loss frameshift variants in KIF5A result in a novel phenotype that includes severe infantile onset myoclonus, hypotonia, optic nerve abnormalities, dysphagia, apnea, and early developmental arrest. (PMID:27463701)
• Zinc ion-mediated inhibition of KIF5A activity might be one molecular cause contributing to impaired transport processes within brain and other organs in cases of zinc dyshomeostasis. (PMID:28122263)
• These results support our hypothesis that KIF5A is responsible for collagen transportation and secretion from HPMCs. (PMID:28676645)
• Kinesin family member 5A protein (Kif5A) with hereditary spastic paraplegia (HSP)-causing mutations showed a variety of significantly reduced catalytic and mechanical activities as a result of each mutation, with the shared phenotype from each that motility was significantly reduced. (PMID:28678816)
• This study found that the mutations located specifically in a C-terminal hotspot of KIF5A can cause a classical amyotrophic lateral sclerosis phenotype, and underline the involvement of intracellular transport processes in amyotrophic lateral sclerosis pathogenesis. (PMID:29342275)
• ALS-associated mutations in KIF5A, are located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. (PMID:29566793)
• This study identified three pathogenic KIF5A mutations in Korean Charcot-Marie-Tooth neuropathy type 2 patients by whole exome sequencing. Two mutations (p.Arg204Trp and p.Arg280His) were previously reported, but p.Leu558Pro was determined to be a novel de novo mutation. (PMID:29892902)
• KIF5A p.Ala361Val cause spastic paraplegia and primary progressive multiple sclerosis. (PMID:29908077)
• KIF5A mutation accounted for 0.41% (4/960) of Chinese patients with amyotrophic lateral sclerosis (ALS), which suggests that KIF5A is an uncommon cause of ALS in the Chinese population. (PMID:29954873)
• it is an uncommon genetic determinant of ALS in Chinese patients. (PMID:30301576)
• Whole-exome sequencing identified novel KIF5A mutations in Chinese patients with amyotrophic lateral sclerosis and Charcot-Marie-Tooth type 2. (PMID:31422367)
• Mitochondrial transport mediates survival of retinal ganglion cells in affected LHON patients. (PMID:32277753)
• Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis. (PMID:32815063)
• Genetic and functional analysis of KIF5A variants in Japanese patients with sporadic amyotrophic lateral sclerosis. (PMID:32888732)
• Sural biopsy to detect the axonal cytoskeleton defects in KIF5A-related Charcot-Marie-Tooth disease type 2. (PMID:33155544)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	kif5aa	ENSDARG00000098936
mus_musculus	Kif5a	ENSMUSG00000074657
rattus_norvegicus	Kif5a	ENSRNOG00000005299

Paralogs (41): KIF1B (ENSG00000054523), KIF26A (ENSG00000066735), KIF2A (ENSG00000068796), KIF22 (ENSG00000079616), KIF3C (ENSG00000084731), KIF9 (ENSG00000088727), KIF16B (ENSG00000089177), KIF4A (ENSG00000090889), KIF3B (ENSG00000101350), KIF20A (ENSG00000112984), KIF21B (ENSG00000116852), KIF17 (ENSG00000117245), KIF14 (ENSG00000118193), KIF18A (ENSG00000121621), KIF25 (ENSG00000125337), KIF1C (ENSG00000129250), KIF1A (ENSG00000130294), KIF3A (ENSG00000131437), KIF12 (ENSG00000136883), KIF13A (ENSG00000137177), KIF23 (ENSG00000137807), KIF11 (ENSG00000138160), CENPE (ENSG00000138778), KIF21A (ENSG00000139116), KIFC3 (ENSG00000140859), KIF2B (ENSG00000141200), KIF2C (ENSG00000142945), KIF26B (ENSG00000162849), KIF15 (ENSG00000163808), KIF6 (ENSG00000164627), KIF27 (ENSG00000165115), KIF7 (ENSG00000166813), KIFC2 (ENSG00000167702), KIF5C (ENSG00000168280), KIF5B (ENSG00000170759), KIF18B (ENSG00000186185), KIF24 (ENSG00000186638), KIF19 (ENSG00000196169), KIF13B (ENSG00000197892), KIF4B (ENSG00000226650)

Protein

Protein identifiers

Kinesin heavy chain isoform 5A — Q12840 (reviewed: Q12840)

Alternative names: Kinesin heavy chain neuron-specific 1, Neuronal kinesin heavy chain

All UniProt accessions (19): Q12840, A0A6Q8PEZ8, A0A6Q8PFB8, A0A6Q8PFD6, A0A6Q8PFG5, A0A6Q8PFQ3, A0A6Q8PFR6, A0A6Q8PFV6, A0A6Q8PGG7, A0A6Q8PGJ3, A0A6Q8PGN1, A0A6Q8PGP0, A0A6Q8PGP8, A0A6Q8PGT2, A0A6Q8PH22, A0A6Q8PH72, A0A6Q8PH74, A0A6Q8PHA9, J3KNA1

UniProt curated annotations — full annotation on UniProt →

Function. Microtubule-dependent motor required for slow axonal transport of neurofilament proteins (NFH, NFM and NFL). Can induce formation of neurite-like membrane protrusions in non-neuronal cells in a ZFYVE27-dependent manner. The ZFYVE27-KIF5A complex contributes to the vesicular transport of VAPA, VAPB, SURF4, RAB11A, RAB11B and RTN3 proteins in neurons. Required for anterograde axonal transportation of MAPK8IP3/JIP3 which is essential for MAPK8IP3/JIP3 function in axon elongation.

Subunit / interactions. Oligomer composed of two heavy chains and two light chains. Interacts with GRIP1. Interacts with FMR1 (via C-terminus); this interaction is increased in a mGluR-dependent manner. Interacts with ZFYVE27. Interacts with VAPA, VAPB, SURF4, RAB11A (GDP-bound form), RAB11B (GDP-bound form) and RTN3 in a ZFYVE27-dependent manner. Interacts with BORCS5. Interacts with BICD2. Interacts with DTNB.

Subcellular location. Cytoplasm. Perinuclear region. Cytoskeleton. Perikaryon.

Tissue specificity. Distributed throughout the CNS but is highly enriched in subsets of neurons.

Disease relevance. Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187] A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. The disease is caused by variants affecting the gene represented in this entry. Myoclonus, intractable, neonatal (NEIMY) [MIM:617235] An autosomal dominant neurologic disorder characterized by severe, infantile-onset myoclonic seizures, hypotonia, optic nerve abnormalities, dysphagia, apnea, and early developmental arrest. Brain imaging shows a progressive leukoencephalopathy. Some patients may die in infancy. The disease is caused by variants affecting the gene represented in this entry. Amyotrophic lateral sclerosis 25 (ALS25) [MIM:617921] A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS25 is an autosomal dominant form with variable adult onset and incomplete penetrance. Disease susceptibility is associated with variants affecting the gene represented in this entry. The mutation NM_004984.2:c.33019A>G encoding the predicted missence variant p.Arg1007Gly, may also affect splicing and induce the skipping of exon 27, resulting in a frameshift and a premature stop codon producing a truncated protein p.Asn999Valfs*39.

Domain organisation. Composed of three structural domains: a large globular N-terminal domain which is responsible for the motor activity of kinesin (it hydrolyzes ATP and binds microtubule), a central alpha-helical coiled coil domain that mediates the heavy chain dimerization; and a small globular C-terminal domain which interacts with other proteins (such as the kinesin light chains), vesicles and membranous organelles.

Similarity. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesin subfamily.

RefSeq proteins (2): NP_001341634, NP_004975* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001752	Kinesin_motor_dom	Domain
IPR019821	Kinesin_motor_CS	Conserved_site
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR027640	Kinesin-like_fam	Family
IPR036961	Kinesin_motor_dom_sf	Homologous_superfamily
IPR059182	Khc_C	Domain

Pfam: PF00225

UniProt features (38 total): sequence variant 20, region of interest 6, compositionally biased region 2, modified residue 2, sequence conflict 2, initiator methionine 1, chain 1, binding site 1, domain 1, mutagenesis site 1, coiled-coil region 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
9T17	ELECTRON MICROSCOPY	2.77
4UXY	ELECTRON MICROSCOPY	6.5
4UXT	ELECTRON MICROSCOPY	7.4
4UY0	ELECTRON MICROSCOPY	7.7

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q12840-F1	76.04	0.27

Functional residue map

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

Ligand- & substrate-binding residues (1): 86–93

Post-translational modifications (2): 2, 397

Mutagenesis-validated functional residues (1):

Position	Phenotype
280	strongly reduces microtubule affinity; slightly reduces gliding velocity.

Function

Pathways and Gene Ontology

Reactome pathways

19 pathways

ID	Pathway
R-HSA-2132295	MHC class II antigen presentation
R-HSA-264876	Insulin processing
R-HSA-5625970	RHO GTPases activate KTN1
R-HSA-6811434	COPI-dependent Golgi-to-ER retrograde traffic
R-HSA-983189	Kinesins
R-HSA-109582	Hemostasis
R-HSA-1280218	Adaptive Immune System
R-HSA-162582	Signal Transduction
R-HSA-168256	Immune System
R-HSA-194315	Signaling by Rho GTPases
R-HSA-195258	RHO GTPase Effectors
R-HSA-199991	Membrane Trafficking
R-HSA-2980736	Peptide hormone metabolism
R-HSA-392499	Metabolism of proteins
R-HSA-5653656	Vesicle-mediated transport
R-HSA-6811442	Intra-Golgi and retrograde Golgi-to-ER traffic
R-HSA-8856688	Golgi-to-ER retrograde transport
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3
R-HSA-983231	Factors involved in megakaryocyte development and platelet production

MSigDB gene sets: 374 (showing top): GOBP_SYNAPTIC_VESICLE_LOCALIZATION, WANG_CLIM2_TARGETS_UP, GOBP_AXO_DENDRITIC_TRANSPORT, MODULE_274, GOBP_VESICLE_LOCALIZATION, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, RORA1_01, TGCACTT_MIR519C_MIR519B_MIR519A, XU_HGF_TARGETS_REPRESSED_BY_AKT1_DN, GOCC_KINESIN_COMPLEX, GOBP_NEUROGENESIS, TGACCTY_ERR1_Q2, GOBP_VESICLE_MEDIATED_TRANSPORT

GO Biological Process (13): microtubule-based movement (GO:0007018), chemical synaptic transmission (GO:0007268), axon guidance (GO:0007411), vesicle-mediated transport (GO:0016192), synaptic vesicle transport (GO:0048489), anterograde dendritic transport of neurotransmitter receptor complex (GO:0098971), anterograde axonal protein transport (GO:0099641), retrograde neuronal dense core vesicle transport (GO:1990049), nuclear migration (GO:0007097), female gamete generation (GO:0007292), establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951), obsolete cellular macromolecule localization (GO:0070727), anterograde axonal transport of mitochondrion (GO:0098957)

GO Molecular Function (12): cytoskeletal motor activity (GO:0003774), microtubule motor activity (GO:0003777), ATP binding (GO:0005524), microtubule binding (GO:0008017), plus-end-directed microtubule motor activity (GO:0008574), ATP hydrolysis activity (GO:0016887), kinesin binding (GO:0019894), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787), isomerase activity (GO:0016853), polypeptide conformation or assembly isomerase activity (GO:0120544)

GO Cellular Component (16): cytoplasm (GO:0005737), cytosol (GO:0005829), kinesin complex (GO:0005871), microtubule (GO:0005874), membrane (GO:0016020), dendrite cytoplasm (GO:0032839), ciliary rootlet (GO:0035253), perikaryon (GO:0043204), perinuclear region of cytoplasm (GO:0048471), postsynaptic cytosol (GO:0099524), axon cytoplasm (GO:1904115), cytoskeleton (GO:0005856), microtubule cytoskeleton (GO:0015630), protein-containing complex (GO:0032991), neuron projection (GO:0043005), neuronal cell body (GO:0043025)

Reactome top-level categories

Rollup of top-14 pathways:

Category	Pathways
Adaptive Immune System	1
Peptide hormone metabolism	1
RHO GTPase Effectors	1
Golgi-to-ER retrograde transport	1
Factors involved in megakaryocyte development and platelet production	1
Immune System	1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
Signaling by Rho GTPases	1
Vesicle-mediated transport	1
Metabolism of proteins	1
Membrane Trafficking	1
Intra-Golgi and retrograde Golgi-to-ER traffic	1
Signal Transduction	1
Hemostasis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
transport	2
cellular process	2
anterograde axonal transport	2
ATP-dependent activity	2
catalytic activity	2
cytoplasm	2
neuron projection cytoplasm	2
cytoskeleton	2
microtubule-based process	1
anterograde trans-synaptic signaling	1
axonogenesis	1
neuron projection guidance	1
establishment of vesicle localization	1
synaptic vesicle localization	1
receptor localization to synapse	1
anterograde dendritic transport	1
axo-dendritic protein transport	1
protein localization to presynapse	1
retrograde axonal transport	1
vesicle transport along microtubule	1
dense core granule cytoskeletal transport	1
intracellular transport	1
nucleus localization	1
establishment of organelle localization	1
gamete generation	1
microtubule cytoskeleton organization	1
establishment or maintenance of cytoskeleton polarity	1
axonal transport of mitochondrion	1
molecular_function	1
cytoskeletal motor activity	1
polypeptide conformation or assembly isomerase activity	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
tubulin binding	1
microtubule motor activity	1
ribonucleoside triphosphate phosphatase activity	1
cytoskeletal protein binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1

Protein interactions and networks

STRING

2994 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KIF5A	KLC2	Q9H0B6	972
KIF5A	KLC3	Q6P597	969
KIF5A	KLC1	Q07866	942
KIF5A	KLC4	Q9NSK0	916
KIF5A	REEP1	Q9H902	842
KIF5A	WASHC5	Q12768	840
KIF5A	B4GALNT1	Q00973	836
KIF5A	SPAST	Q9UBP0	832
KIF5A	NIPA1	Q7RTP0	792
KIF5A	ZFYVE27	Q5T4F4	775
KIF5A	TRAK1	Q9UPV9	774
KIF5A	PIP4K2C	Q8TBX8	729
KIF5A	TRAK2	O60296	715
KIF5A	ANKRD27	Q96NW4	658
KIF5A	DCTN1	Q14203	657

IntAct

121 interactions, top by confidence:

A	B	Type	Score
MED4	MED19	psi-mi:“MI:2364”(proximity)	0.900
KIF5B	KLC1	psi-mi:“MI:0914”(association)	0.730
KLC1	KIF5B	psi-mi:“MI:0914”(association)	0.730
DYNLL1	BLTP3B	psi-mi:“MI:0914”(association)	0.730
TRAK1	KIF5A	psi-mi:“MI:0915”(physical association)	0.670
DYNLL2	BLTP3B	psi-mi:“MI:0914”(association)	0.640
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
KIF5A	ANKRD27	psi-mi:“MI:0915”(physical association)	0.580
ANKRD27	KIF5A	psi-mi:“MI:0915”(physical association)	0.580
TRIP6	WTIP	psi-mi:“MI:0914”(association)	0.530
COG6	EXOC5	psi-mi:“MI:0914”(association)	0.530
TRAK2	OGT	psi-mi:“MI:0914”(association)	0.530
BMP1	TLL1	psi-mi:“MI:0914”(association)	0.530
YWHAQ	IGLC7	psi-mi:“MI:0914”(association)	0.530
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530
KXD1	HIP1	psi-mi:“MI:0914”(association)	0.530
NUP62	RGPD8	psi-mi:“MI:0914”(association)	0.530
CHRNA9	CHEK1	psi-mi:“MI:0914”(association)	0.530
KLC1	KIF5C	psi-mi:“MI:0914”(association)	0.530
TRAK1	MTX2	psi-mi:“MI:0914”(association)	0.530
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.480

BioGRID (126): KIF5A (Affinity Capture-Western), KIF5A (Affinity Capture-MS), KIF5A (Affinity Capture-MS), KIF5A (Affinity Capture-MS), KIF5A (Affinity Capture-MS), KIF5A (Affinity Capture-MS), KIF5A (Co-fractionation), KIF5A (Co-fractionation), KIF5A (Proximity Label-MS), KIF5A (Affinity Capture-MS), KIF5A (Affinity Capture-MS), KIF5A (Affinity Capture-MS), KIF5A (Affinity Capture-MS), KIF5A (Affinity Capture-MS), KIF5A (Affinity Capture-MS)

ESM2 similar proteins: A3BFT0, A8BB91, A8BKD1, B9F2Y7, F4IJK6, F4JGP4, F4K0J3, G5EGS3, O15066, O35066, O43093, O60282, P17210, P20480, P21613, P28738, P28739, P28741, P33175, P33176, P34540, P35978, P45962, P46864, P46873, P46875, P48467, P56536, P79955, Q07970, Q0J9V3, Q0WN69, Q12840, Q2PQA9, Q498L9, Q4R628, Q5JKW1, Q5R4H3, Q5R9K7, Q61768

Diamond homologs: A0A068FIK2, A0JN40, A1ZAJ2, A8BB91, A8BKD1, B1AVY7, B7EJ91, B7ZNG0, B9F2Y7, B9GE13, F1M4A4, F1M5N7, F1QN54, F4IIS5, F4J1U4, F4K0J3, G5EGS3, O14343, O14782, O15066, O23826, O35066, O35071, O35787, O43896, O45935, O55165, O60282, O60333, O75037, O88658, O95239, P17210, P21613, P23678, P28738, P28741, P33173, P33174, P33175

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
KIF5A	“up-regulates activity”	DLG4	binding
KIF5A	up-regulates	Organelle_transport
KIF5A	up-regulates	“Plus-end directed sliding movement”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 120 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
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	56.0×	9e-09
Activation of BAD and translocation to mitochondria	6	54.4×	9e-08
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	6	48.0×	2e-07
Activation of BH3-only proteins	7	41.4×	4e-08
RHO GTPases activate PKNs	7	26.4×	4e-07
Intrinsic Pathway for Apoptosis	7	24.4×	6e-07
Translocation of SLC2A4 (GLUT4) to the plasma membrane	9	16.5×	2e-07
Signaling by ALK in cancer	5	16.2×	2e-04

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	7	25.1×	9e-06
negative regulation of TORC1 signaling	5	15.9×	3e-03
intracellular protein localization	9	9.2×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

1511 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	41
Likely pathogenic	43
Uncertain significance	601
Likely benign	644
Benign	53

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1335110	NM_004984.4(KIF5A):c.1858G>T (p.Glu620Ter)	Pathogenic
1458651	NM_004984.4(KIF5A):c.3020+1G>C	Pathogenic
1508288	NM_004984.4(KIF5A):c.43C>T (p.Arg15Ter)	Pathogenic
162100	NM_004984.4(KIF5A):c.694G>A (p.Asp232Asn)	Pathogenic
1943139	NM_004984.4(KIF5A):c.1272_1273del (p.Leu424_Tyr425insTer)	Pathogenic
2027343	NM_004984.4(KIF5A):c.2068C>T (p.Gln690Ter)	Pathogenic
2028586	NM_004984.4(KIF5A):c.1342C>T (p.Gln448Ter)	Pathogenic
2132423	NM_004984.4(KIF5A):c.1901_1905delCTCAG (p.Ser634_Gln635insTer)	Pathogenic
2152154	NM_004984.4(KIF5A):c.3020+3A>G	Pathogenic
2500188	NM_004984.4(KIF5A):c.737G>T (p.Gly246Val)	Pathogenic
2574240	NM_004984.4(KIF5A):c.263C>T (p.Thr88Ile)	Pathogenic
2735901	NM_004984.4(KIF5A):c.745C>G (p.Leu249Val)	Pathogenic
2738921	NM_004984.4(KIF5A):c.552_555del (p.Ile184fs)	Pathogenic
2770862	NM_004984.4(KIF5A):c.500del (p.Lys167fs)	Pathogenic
2836802	NM_004984.4(KIF5A):c.2030_2031del (p.Val677fs)	Pathogenic
3338325	NM_004984.4(KIF5A):c.1233dup (p.Glu412fs)	Pathogenic
3384771	NM_004984.4(KIF5A):c.2549_2562dup (p.Arg855fs)	Pathogenic
3632245	NM_004984.4(KIF5A):c.1309C>T (p.Gln437Ter)	Pathogenic
3660460	NM_004984.4(KIF5A):c.2128del (p.His710fs)	Pathogenic
3707733	NM_004984.4(KIF5A):c.2422C>T (p.Arg808Ter)	Pathogenic
37127	NM_004984.4(KIF5A):c.751G>A (p.Glu251Lys)	Pathogenic
3721627	NM_004984.4(KIF5A):c.1630C>T (p.Arg544Ter)	Pathogenic
372187	NM_004984.4(KIF5A):c.2854del (p.Gln952fs)	Pathogenic
372188	KIF5A, 1-BP DEL, 2934G	Pathogenic
372189	NM_004984.4(KIF5A):c.2922del (p.Cys975fs)	Pathogenic
3768396	NM_004984.4(KIF5A):c.404_407del (p.Tyr135fs)	Pathogenic
4682485	NM_004984.4(KIF5A):c.1118-2A>G	Pathogenic
4688489	NM_004984.4(KIF5A):c.1550_1554del (p.Asp517fs)	Pathogenic
4737635	NM_004984.4(KIF5A):c.3020+2T>C	Pathogenic
504476	NM_004984.4(KIF5A):c.2993-3C>T	Pathogenic

SpliceAI

3639 predictions. Top by Δscore:

Variant	Effect	Δscore
12:57550397:TGGG:T	donor_gain	1.0000
12:57550397:TGGGG:T	donor_loss	1.0000
12:57550398:GGG:G	donor_gain	1.0000
12:57550398:GGGG:G	donor_gain	1.0000
12:57550398:GGGGT:G	donor_loss	1.0000
12:57550399:GG:G	donor_gain	1.0000
12:57550399:GGG:G	donor_gain	1.0000
12:57550400:GG:G	donor_gain	1.0000
12:57550401:G:GG	donor_gain	1.0000
12:57550401:GTGA:G	donor_loss	1.0000
12:57550402:T:A	donor_loss	1.0000
12:57563432:A:AG	acceptor_gain	1.0000
12:57563434:TCCA:T	acceptor_loss	1.0000
12:57563435:CCA:C	acceptor_loss	1.0000
12:57563436:CA:C	acceptor_loss	1.0000
12:57563437:A:AC	acceptor_loss	1.0000
12:57563437:A:AG	acceptor_gain	1.0000
12:57563437:AG:A	acceptor_gain	1.0000
12:57563437:AGG:A	acceptor_gain	1.0000
12:57563437:AGGG:A	acceptor_gain	1.0000
12:57563438:G:GT	acceptor_gain	1.0000
12:57563438:GG:G	acceptor_gain	1.0000
12:57563438:GGG:G	acceptor_gain	1.0000
12:57563438:GGGG:G	acceptor_gain	1.0000
12:57563438:GGGGA:G	acceptor_gain	1.0000
12:57563522:CAAAG:C	donor_loss	1.0000
12:57563523:AAAGG:A	donor_loss	1.0000
12:57563525:AGGTA:A	donor_loss	1.0000
12:57563527:G:C	donor_loss	1.0000
12:57563528:T:A	donor_loss	1.0000

AlphaMissense

6818 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:57550313:C:G	C14W	1.000
12:57550315:G:C	R15P	1.000
12:57563631:G:C	G77R	1.000
12:57563632:G:A	G77D	1.000
12:57563632:G:T	G77V	1.000
12:57563640:G:C	G80R	1.000
12:57563641:G:A	G80D	1.000
12:57563650:T:C	F83S	1.000
12:57563653:C:A	A84D	1.000
12:57563658:G:A	G86R	1.000
12:57563658:G:C	G86R	1.000
12:57563659:G:A	G86E	1.000
12:57563659:G:T	G86V	1.000
12:57563663:G:C	Q87H	1.000
12:57563663:G:T	Q87H	1.000
12:57563673:G:A	G91R	1.000
12:57563673:G:C	G91R	1.000
12:57563673:G:T	G91W	1.000
12:57563674:G:A	G91E	1.000
12:57563674:G:T	G91V	1.000
12:57563676:A:C	K92Q	1.000
12:57563676:A:G	K92E	1.000
12:57563677:A:T	K92I	1.000
12:57563678:A:C	K92N	1.000
12:57563678:A:T	K92N	1.000
12:57563680:C:T	T93I	1.000
12:57563689:T:A	M96K	1.000
12:57564108:G:A	G98R	1.000
12:57564108:G:C	G98R	1.000
12:57564109:G:A	G98E	1.000

dbSNP variants (sampled 300 via entrez): RS1000098736 (12:57569865 C>T), RS1000221614 (12:57565258 A>G), RS1000224275 (12:57562985 T>C,G), RS1000309861 (12:57558517 T>C,G), RS1000361892 (12:57558336 T>C), RS1000362429 (12:57548608 A>G), RS1000376171 (12:57584887 G>C), RS1000426355 (12:57555682 G>A,T), RS1000482550 (12:57556834 T>C), RS1000525089 (12:57566382 G>A), RS1000585229 (12:57564806 G>A,T), RS1000647063 (12:57559789 G>A), RS1000697919 (12:57559536 A>G), RS1000927267 (12:57552974 C>G), RS1000959495 (12:57566660 T>C)

Disease associations

OMIM: gene MIM:602821 | disease phenotypes: MIM:303350, MIM:617235, MIM:604187, MIM:617921, MIM:181500, MIM:609129, MIM:160500, MIM:118220, MIM:616439

GenCC curated gene-disease

Disease	Classification	Inheritance
myoclonus, intractable, neonatal	Definitive	Autosomal dominant
inherited neurodegenerative disorder	Definitive	Autosomal dominant
amyotrophic lateral sclerosis, susceptibility to, 25	Definitive	Autosomal dominant
hereditary spastic paraplegia 10	Strong	Autosomal dominant
autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (2)

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

Disease	Classification	Inheritance
amyotrophic lateral sclerosis, susceptibility to, 25	Definitive	AD
inherited neurodegenerative disorder	Definitive	AD

Mondo (18): hereditary spastic paraplegia (MONDO:0019064), myoclonus, intractable, neonatal (MONDO:0014979), hereditary spastic paraplegia 10 (MONDO:0011408), Charcot-Marie-Tooth disease type 2 (MONDO:0018993), amyotrophic lateral sclerosis, susceptibility to, 25 (MONDO:0060670), paroxysmal dyskinesia (MONDO:0015427), autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation (MONDO:0017940), intellectual disability (MONDO:0001071), prostate cancer (MONDO:0008315), peripheral neuropathy (MONDO:0005244), schizophrenia (MONDO:0005090), amyotrophic lateral sclerosis (MONDO:0004976), inherited neurodegenerative disorder (MONDO:0024237), auditory neuropathy (MONDO:0021944), distal myopathy (MONDO:0018949)

Orphanet (13): Hereditary spastic paraplegia (Orphanet:685), Autosomal dominant spastic paraplegia type 10 (Orphanet:100991), Autosomal dominant Charcot-Marie-Tooth disease type 2 (Orphanet:64746), Paroxysmal dyskinesia (Orphanet:1431), Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation (Orphanet:324611), Familial prostate cancer (Orphanet:1331), Amyotrophic lateral sclerosis (Orphanet:803), Genetic neurodegenerative disease (Orphanet:183500), Distal myopathy (Orphanet:599), Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy (Orphanet:166), Frontotemporal dementia with motor neuron disease (Orphanet:275872), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658), NON RARE IN EUROPE: Schizophrenia (Orphanet:3140)

HPO phenotypes

67 total (30 of 67 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000012	Urinary urgency
HP:0000020	Urinary incontinence
HP:0000252	Microcephaly
HP:0000365	Hearing impairment
HP:0000508	Ptosis
HP:0000510	Rod-cone dystrophy
HP:0000543	Optic disc pallor
HP:0000666	Horizontal nystagmus
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001258	Spastic paraplegia
HP:0001263	Global developmental delay
HP:0001300	Parkinsonism
HP:0001305	Dandy-Walker malformation
HP:0001336	Myoclonus
HP:0001761	Pes cavus
HP:0002015	Dysphagia
HP:0002033	Poor suck
HP:0002061	Lower limb spasticity
HP:0002064	Spastic gait
HP:0002072	Chorea
HP:0002079	Hypoplasia of the corpus callosum
HP:0002104	Apnea
HP:0002166	Impaired vibration sensation in the lower limbs
HP:0002188	Delayed CNS myelination
HP:0002305	Athetosis
HP:0002342	Moderate intellectual disability
HP:0002395	Lower limb hyperreflexia
HP:0002493	Upper motor neuron dysfunction

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST000232_9	Rheumatoid arthritis	9.000000e-08
GCST002323_7	Rheumatoid arthritis	1.000000e-07
GCST005647_6	Amyotrophic lateral sclerosis	7.000000e-13
GCST008810_21	Smoking initiation (ever regular vs never regular)	5.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005670	smoking initiation

MeSH disease descriptors (8)

Descriptor	Name	Tree numbers
D000690	Amyotrophic Lateral Sclerosis	C10.228.854.139; C10.574.562.250; C10.574.950.050; C10.668.467.250; C18.452.845.800.050
D002607	Charcot-Marie-Tooth Disease	C10.500.300.200; C10.574.500.495.200; C10.668.829.800.300.200; C16.131.666.300.200; C16.320.400.375.200
D020271	Heredodegenerative Disorders, Nervous System	C10.574.500; C16.320.400
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D011471	Prostatic Neoplasms	C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750
D015419	Spastic Paraplegia, Hereditary	C10.500.300.820; C10.574.500.495.820; C10.668.829.800.300.820; C16.131.666.300.820; C16.320.400.375.820
C538268	Auditory neuropathy (supp.)
C537482	Spastic paraplegia 10, autosomal dominant (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5295 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects binding, increases reaction, decreases expression, increases abundance, increases expression	3
Adenosine Triphosphate	decreases activity, decreases reaction, increases hydrolysis	2
Benzo(a)pyrene	increases methylation, affects methylation, increases expression	2
Egtazic Acid	decreases reaction, increases hydrolysis, decreases activity	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
dicrotophos	increases expression	1
methylmercuric chloride	decreases expression	1
bisphenol A	decreases methylation	1
2,5,2’,5’-tetrachlorobiphenyl	decreases expression	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
zinc chloride	decreases activity, decreases reaction, affects reaction	1
manganese chloride	increases abundance, increases expression	1
cupric chloride	decreases activity, decreases reaction	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
tebuconazole	decreases expression	1
CGP 52608	increases reaction, affects binding	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
licochalcone B	increases expression	1
Docetaxel	decreases response to substance	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	decreases expression, increases abundance	1
Atrazine	increases expression	1
Carmustine	decreases expression	1
Cysteine	decreases activity, decreases reaction	1
Diethylhexyl Phthalate	decreases expression	1
Dithiothreitol	decreases activity, decreases reaction	1
Doxorubicin	decreases expression	1

ChEMBL screening assays

8 unique, capped per target: 8 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1020054	Binding	Inhibition of cloned human nKHC	Kinesin spindle protein (KSP) inhibitors. 9. Discovery of (2S)-4-(2,5-difluorophenyl)-n-[(3R,4S)-3-fluoro-1-methylpiperidin-4-yl]-2-(hydroxymethyl)-N-methyl-2-phenyl-2,5-dihydro-1H-pyrrole-1-carboxamide (MK-0731) for the treatment of taxane-refractory cancer. — J Med Chem

Cellosaurus cell lines

9 cell lines: 9 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_A4CT	BNIi001-A	Induced pluripotent stem cell	Male
CVCL_A4CU	BNIi001-B	Induced pluripotent stem cell	Male
CVCL_C2VZ	IGIBi005-A	Induced pluripotent stem cell	Male
CVCL_C6Q0	IAIi010-A	Induced pluripotent stem cell	Female
CVCL_E4WD	KOLF2.1J KIF5A 32.9kbdel DEL/DEL	Induced pluripotent stem cell	Male
CVCL_E4WF	KOLF2.1J KIF5A N256S SNV/SNV	Induced pluripotent stem cell	Male
CVCL_E4WG	KOLF2.1J KIF5A N256S SNV/WT	Induced pluripotent stem cell	Male
CVCL_E7NZ	KOLF2.1J KIF5A R204Q SNV/SNV	Induced pluripotent stem cell	Male
CVCL_E7P0	KOLF2.1J KIF5A R204Q SNV/WT	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT07542548	PHASE4	COMPLETED	D-Cycloserine for Serine Palmitoyltransferase Inhibition
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT00029224	PHASE4	COMPLETED	Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions
NCT00035997	PHASE4	COMPLETED	Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis
NCT00063609	PHASE4	COMPLETED	The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy
NCT00103623	PHASE4	SUSPENDED	The Plenaxis® Experience Study
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NCT00185029	PHASE4	UNKNOWN	MR-Lymphography and Lymph Node Staging in Prostate Cancer
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NCT00219219	PHASE4	COMPLETED	Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases
NCT00219271	PHASE4	COMPLETED	Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer
NCT00237146	PHASE4	COMPLETED	Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy
NCT00242554	PHASE4	COMPLETED	Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases
NCT00280098	PHASE4	COMPLETED	Docetaxel in the Treatment of Hormone Refractory Prostate Cancer
NCT00293696	PHASE4	COMPLETED	Casodex/Zoladex Biomarkers in Localised Prostate Cancer
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NCT00375765	PHASE4	COMPLETED	Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer
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NCT00590213	PHASE4	COMPLETED	Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX
NCT00629330	PHASE4	TERMINATED	Dissemination of Prostate Cancer Screening to PCP’s in African American Communities
NCT00771966	PHASE4	COMPLETED	Radical Prostatectomy and Perioperative Fluid Therapy
NCT00805701	PHASE4	COMPLETED	Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation
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NCT00906269	PHASE4	UNKNOWN	Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer
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NCT00982800	PHASE4	COMPLETED	Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy?
NCT01083199	PHASE4	COMPLETED	Global Performance Evaluation of the AMS CONTINUUM™ Device
NCT01136226	PHASE4	COMPLETED	Evaluate Recovery of Testosterone for Patients Using Eligard
NCT01161563	PHASE4	COMPLETED	Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration
NCT01230905	PHASE4	COMPLETED	Study to Monitor the Effects of Androgen Suppression Treatment on the Heart
NCT01296672	PHASE4	COMPLETED	3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer
NCT01365143	PHASE4	TERMINATED	Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy
NCT01379742	PHASE4	UNKNOWN	Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy
NCT01486563	PHASE4	COMPLETED	Hydroxyethyl Starch and Renal Function After Radical Prostatectomy
NCT01511874	PHASE4	COMPLETED	Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer