Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3798
Gene name Gene Name - the full gene name approved by the HGNC.	Kinesin family member 5A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	KIF5A
Synonyms (NCBI Gene) Gene synonyms aliases	ALS25, D12S1889, MY050, NEIMY, NKHC, SPG10
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12q13.3
Summary Summary of gene provided in NCBI Entrez Gene.	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 par

Show/Hide all(27)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434441	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121434442	C>T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121434443	A>G	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121434444	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs139091551	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, non coding transcript variant, coding sequence variant
rs140281678	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs143326964	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs375693647	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, coding sequence variant, synonymous variant
rs387907285	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs387907286	G>A	Uncertain-significance, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs387907287	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs387907288	G>A	Uncertain-significance, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs387907289	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs690016545	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057517673	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057519078	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057523746	A>G	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1057524193	A>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1131692233	T>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1218712729	T>A	Risk-factor	Non coding transcript variant, splice donor variant
rs1402429085	C>T	Risk-factor	Intron variant
rs1555177629	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1555177824	C>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1555177831	G>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1555178616	C>T	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555179087	A>G	Risk-factor	Missense variant, non coding transcript variant, coding sequence variant
rs1555179091	G>A	Risk-factor	Non coding transcript variant, splice donor variant

Show/Hide all(91)

miRTarBase ID	miRNA	Experiments	Reference
MIRT027231	hsa-miR-103a-3p	Sequencing	20371350
MIRT032072	hsa-miR-16-5p	Sequencing	20371350
MIRT656870	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT656869	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT656868	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT656867	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT656866	hsa-miR-7977	HITS-CLIP	23824327
MIRT656870	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT656869	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT656868	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT656867	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT656866	hsa-miR-7977	HITS-CLIP	23824327
MIRT474700	hsa-miR-6165	PAR-CLIP	23592263
MIRT474701	hsa-miR-1265	PAR-CLIP	23592263
MIRT474699	hsa-miR-7852-3p	PAR-CLIP	23592263
MIRT474698	hsa-miR-4459	PAR-CLIP	23592263
MIRT474697	hsa-miR-3605-5p	PAR-CLIP	23592263
MIRT474696	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT474695	hsa-miR-6081	PAR-CLIP	23592263
MIRT474694	hsa-miR-765	PAR-CLIP	23592263
MIRT474693	hsa-miR-6894-5p	PAR-CLIP	23592263
MIRT474692	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT474691	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT474690	hsa-miR-6073	PAR-CLIP	23592263
MIRT474689	hsa-miR-142-3p	PAR-CLIP	23592263
MIRT656870	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT656869	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT656868	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT656867	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT656866	hsa-miR-7977	HITS-CLIP	23824327
MIRT656870	hsa-miR-3606-3p	HITS-CLIP	23824327
MIRT656869	hsa-miR-513a-3p	HITS-CLIP	23824327
MIRT656868	hsa-miR-513c-3p	HITS-CLIP	23824327
MIRT656867	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT656866	hsa-miR-7977	HITS-CLIP	23824327
MIRT474700	hsa-miR-6165	PAR-CLIP	23592263
MIRT474701	hsa-miR-1265	PAR-CLIP	23592263
MIRT474699	hsa-miR-7852-3p	PAR-CLIP	23592263
MIRT474698	hsa-miR-4459	PAR-CLIP	23592263
MIRT474697	hsa-miR-3605-5p	PAR-CLIP	23592263
MIRT474696	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT474695	hsa-miR-6081	PAR-CLIP	23592263
MIRT474694	hsa-miR-765	PAR-CLIP	23592263
MIRT474693	hsa-miR-6894-5p	PAR-CLIP	23592263
MIRT474692	hsa-miR-1343-5p	PAR-CLIP	23592263
MIRT474691	hsa-miR-939-5p	PAR-CLIP	23592263
MIRT474690	hsa-miR-6073	PAR-CLIP	23592263
MIRT474689	hsa-miR-142-3p	PAR-CLIP	23592263
MIRT2256715	hsa-miR-15a	CLIP-seq
MIRT2256716	hsa-miR-15b	CLIP-seq
MIRT2256717	hsa-miR-16	CLIP-seq
MIRT2256718	hsa-miR-195	CLIP-seq
MIRT2256719	hsa-miR-3617	CLIP-seq
MIRT2256720	hsa-miR-424	CLIP-seq
MIRT2256721	hsa-miR-497	CLIP-seq
MIRT2256722	hsa-miR-503	CLIP-seq
MIRT2256723	hsa-miR-641	CLIP-seq
MIRT2256724	hsa-miR-646	CLIP-seq
MIRT2558080	hsa-miR-139-3p	CLIP-seq
MIRT2558081	hsa-miR-181a	CLIP-seq
MIRT2558082	hsa-miR-181b	CLIP-seq
MIRT2558083	hsa-miR-181c	CLIP-seq
MIRT2558084	hsa-miR-181d	CLIP-seq
MIRT2558085	hsa-miR-203	CLIP-seq
MIRT2558086	hsa-miR-3189-5p	CLIP-seq
MIRT2558087	hsa-miR-3529	CLIP-seq
MIRT2558088	hsa-miR-3591-3p	CLIP-seq
MIRT2558089	hsa-miR-3620	CLIP-seq
MIRT2558090	hsa-miR-379	CLIP-seq
MIRT2558091	hsa-miR-3927	CLIP-seq
MIRT2558092	hsa-miR-4262	CLIP-seq
MIRT2558093	hsa-miR-4302	CLIP-seq
MIRT2558094	hsa-miR-4476	CLIP-seq
MIRT2558095	hsa-miR-4667-3p	CLIP-seq
MIRT2558096	hsa-miR-4758-3p	CLIP-seq
MIRT2558097	hsa-miR-494	CLIP-seq
MIRT2558098	hsa-miR-539	CLIP-seq
MIRT2558099	hsa-miR-543	CLIP-seq
MIRT2558080	hsa-miR-139-3p	CLIP-seq
MIRT2558081	hsa-miR-181a	CLIP-seq
MIRT2558082	hsa-miR-181b	CLIP-seq
MIRT2558083	hsa-miR-181c	CLIP-seq
MIRT2558084	hsa-miR-181d	CLIP-seq
MIRT2558088	hsa-miR-3591-3p	CLIP-seq
MIRT2558089	hsa-miR-3620	CLIP-seq
MIRT2558092	hsa-miR-4262	CLIP-seq
MIRT2558093	hsa-miR-4302	CLIP-seq
MIRT2558095	hsa-miR-4667-3p	CLIP-seq
MIRT2558097	hsa-miR-494	CLIP-seq
MIRT2558098	hsa-miR-539	CLIP-seq
MIRT2558099	hsa-miR-543	CLIP-seq

Show/Hide all(42)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003774	Function	Cytoskeletal motor activity	TAS	7514426
GO:0003777	Function	Microtubule motor activity	IDA	18203753
GO:0003777	Function	Microtubule motor activity	IEA
GO:0005515	Function	Protein binding	IPI	20386726, 22705394, 24161670, 25898167, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005871	Component	Kinesin complex	IBA
GO:0005871	Component	Kinesin complex	TAS	7514426
GO:0005874	Component	Microtubule	IBA
GO:0005874	Component	Microtubule	IEA
GO:0007018	Process	Microtubule-based movement	IEA
GO:0007018	Process	Microtubule-based movement	TAS	7514426
GO:0007268	Process	Chemical synaptic transmission	TAS	7514426
GO:0007411	Process	Axon guidance	IBA
GO:0008017	Function	Microtubule binding	IBA
GO:0008017	Function	Microtubule binding	IEA
GO:0008574	Function	Plus-end-directed microtubule motor activity	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	TAS	7514426
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0016192	Process	Vesicle-mediated transport	ISS
GO:0016787	Function	Hydrolase activity	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IBA
GO:0019894	Function	Kinesin binding	IEA
GO:0032839	Component	Dendrite cytoplasm	IEA
GO:0035253	Component	Ciliary rootlet	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048489	Process	Synaptic vesicle transport	IBA
GO:0098971	Process	Anterograde dendritic transport of neurotransmitter receptor complex	IBA
GO:0098971	Process	Anterograde dendritic transport of neurotransmitter receptor complex	IEA
GO:0099524	Component	Postsynaptic cytosol	IEA
GO:0099641	Process	Anterograde axonal protein transport	ISS
GO:1904115	Component	Axon cytoplasm	IEA
GO:1990049	Process	Retrograde neuronal dense core vesicle transport	ISS

MIM	HGNC	e!Ensembl
602821	6323	ENSG00000155980

Protein

UniProt ID

Q12840

Protein name

Kinesin heavy chain isoform 5A (EC 5.6.1.3) (Kinesin heavy chain neuron-specific 1) (Neuronal kinesin heavy chain) (NKHC)

Protein 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

PDB

4UXT , 4UXY , 4UY0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00225	Kinesin	25 → 327	Kinesin motor domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Distributed throughout the CNS but is highly enriched in subsets of neurons. {ECO:0000269|PubMed:7514426}.

Sequence

MAETNNECSIKVLCRFRPLNQAEILRGDKFIPIFQGDDSVVIGGKPYVFDRVFPPNTTQE
QVYHACAMQIVKDVLAGYNGTIFAYGQTSSGKTHTMEGKLHDPQLMGIIPRIARDIFNHI
YSMDENLEFHIKVSYFEIYLDKIRDLLDVTKTNLSVHEDKNRVPFVKGCTERFVSSPEEI
LDVIDEGKSNRHVAVTNMNEHSSRSHSIFLINIKQENMETEQKLSGKLYLVDLAGSEKVS
KTGAEGAVLDEAKNINKSLSALGNVISALAEGTKSYVPYRDSKMTRILQDSLGGNCRTTM
FICCSPSSYNDAETKSTLMFGQRAKTIKNTASVNLELTAEQWKKKYEKEKEKTKAQKETI
AKLEAELSRWRNGENVPETERLAGEEAALGAELCEETPVNDNSSIVVRIAPEERQKYEEE
IRRLYKQLDDKDDEINQQSQLIEKLKQQMLDQEELLVSTRGDNEKVQRELSHLQSENDAA
KDEVKEVLQALEELAVNYDQKSQEVEEKSQQNQLLVDELSQKVATMLSLESELQRLQEVS
GHQRKRIAEVLNGLMKDLSEFSVIVGNGEIKLPVEISGAIEEEFTVARLYISKIKSEVKS
VVKRCRQLENLQVECHRKMEVTGRELSSCQLLISQHEAKIRSLTEYMQSVELKKRHLEES
YDSLSDELAKLQAQETVHEVALKDKEPDTQDADEVKKALELQMESHREAHHRQLARLRDE
INEKQKTIDELKDLNQKLQLELEKLQADYEKLKSEEHEKSTKLQELTFLYERHEQSKQDL
KGLEETVARELQTLHNLRKLFVQDVTTRVKKSAEMEPEDSGGIHSQKQKISFLENNLEQL
TKVHKQLVRDNADLRCELPKLEKRLRATAERVKALEGALKEAKEGAMKDKRRYQQEVDRI
KEAVRYKSSGKRGHSAQIAKPVRPGHYPASSPTNPYGTRSPECISYTNSLFQNYQNLYLQ
ATPSSTSDMYFANSCTSSGATSSGGPLASYQKANMDNGNATDINDNRSDLPCGYEAEDQA
KLFPLHQETAAS

Sequence length

1032

Interactions

View interactions

	KEGG		Reactome
	Endocytosis Dopaminergic synapse Motor proteins Alzheimer disease Parkinson disease Amyotrophic lateral sclerosis Huntington disease Prion disease Pathways of neurodegeneration - multiple diseases Salmonella infection Non-small cell lung cancer		MHC class II antigen presentation RHO GTPases activate KTN1 COPI-dependent Golgi-to-ER retrograde traffic Kinesins

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, susceptibility to, 25	rs1402429085, rs1555179091, rs1555179087	N/A
Hereditary spastic paraplegia	Hereditary spastic paraplegia 10, Hereditary spastic paraplegia	rs1555177629, rs121434442, rs387907288, rs1555177824, rs1555177831, rs121434443, rs387907289, rs1131692233, rs690016545, rs387907285, rs387907287, rs121434441	N/A
Myoclonus	myoclonus, intractable, neonatal	rs1057519078, rs1057517673, rs387907285, rs387907287	N/A
Spastic Paraplegia	spastic paraplegia	rs1555179087, rs1565705251, rs121434442, rs1594915468, rs387907288, rs1594925773, rs139015012, rs121434443, rs1555178616, rs1882179247, rs1555179091, rs387907285, rs1402429085, rs1060502523, rs387907287, rs1555177629 View all (1 more)	N/A

Show/Hide Unknown Diseases (6)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Charcot-Marie-Tooth Disease	autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation	N/A	N/A	GenCC
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Frontotemporal Dementia With Or Without Amyotrophic Lateral Sclerosis	frontotemporal dementia and/or amyotrophic lateral sclerosis 4	N/A	N/A	ClinVar
Insomnia	Insomnia	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Rheumatoid arthritis	Rheumatoid arthritis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (50)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	39517115
Alcoholic Neuropathy	Associate	25008398
Alzheimer Disease	Associate	36544231
Amyotrophic Lateral Sclerosis	Associate	25957632, 29342275, 30778698, 33709219, 33829936, 36055117, 36565680, 37386082
Amyotrophic lateral sclerosis 1	Associate	29342275
Apnea	Associate	27463701
Arthritis Juvenile	Associate	19674979
Arthritis Rheumatoid	Associate	18794857, 19956108, 23242182
Basal Ganglia Diseases	Associate	25957632
Charcot Marie Tooth disease X linked recessive 2	Associate	29566793, 33829936, 36565680
Critical Illness	Associate	27463701
Deglutition Disorders	Associate	27463701
Developmental Disabilities	Associate	33681666
Diabetes Mellitus Type 1	Associate	19956108
Drug Resistant Epilepsy	Associate	27094248
Epilepsia Partialis Continua	Associate	33681666
Epilepsy	Associate	33681666
Essential Tremor	Associate	31404076
Foot Deformities	Associate	33829936
Heart Arrest	Associate	27463701
Hereditary Sensory and Motor Neuropathy	Associate	25008398, 29342275
Heredodegenerative Disorders Nervous System	Associate	33681666
Inherited Peripheral Neuropathy	Associate	30373780
Intellectual Disability	Associate	29342275
Liver Neoplasms	Associate	29342275, 29566793, 35385738, 36223668
Mitochondrial Diseases	Associate	27463701
Mobility Limitation	Associate	33829936
Mohr Tranebjaerg syndrome	Associate	27094248
Multiple Sclerosis	Associate	23160276, 29908077
Multiple Sclerosis	Stimulate	33484325
Multiple Sclerosis Chronic Progressive	Associate	29908077
Multiple Sclerosis Relapsing Remitting	Associate	33484325
Muscle Hypotonia	Associate	27463701
Myoclonus	Associate	27463701, 29342275, 33829936
Neoplasms	Associate	39517115
Neoplastic Syndromes Hereditary	Associate	31404076
Nerve Degeneration	Associate	30366951
Neurodegenerative Diseases	Associate	29566793, 36565680, 36574689
Neurologic Manifestations	Associate	29908077
Optic Nerve Hypoplasia	Associate	27463701
Paraplegia	Associate	18245137, 25008398, 29342275, 36055117, 36565680
Parkinson Disease Secondary	Associate	25957632
Peripheral Nervous System Diseases	Associate	18245137, 25008398
Roy Maroteaux Kremp syndrome	Associate	36223668
Spasms Infantile	Associate	33681666
Spastic paraplegia 10 autosomal dominant	Associate	27463701, 29566793, 29908077, 36565680
Spastic Paraplegia 31 Autosomal Dominant	Associate	29908077
Spastic Paraplegia Hereditary	Associate	10441583, 18245137, 25008398, 25957632, 26374131, 28678816, 28832565, 29566793, 30366951, 30778698, 33829936, 34983064, 36574689
Spinal muscular atrophy Jerash type	Associate	25957632
Spinocerebellar Ataxias	Associate	30778698

KIF5A (kinesin family member 5A)