KIF5A - kinesin family member 5A Gene

Also Known as NKHC; ALS25; MY050; NEIMY; SPG10; D12S1889

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3798

About KIF5A

Cytogenetic location: 12q13.3 Genomic coordinates (GRCh38): 12:57,550,044-57,586,633 (from NCBI)

This gene has 32 transcripts (splice variants), 248 orthologues, 41 paralogues and is associated with 6 phenotypes. Biased expression in brain (RPKM 141.3) and adrenal (RPKM 5.1).

Summary

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. [provided by RefSeq, Jul 2008]

KIF5A Products (2)

mRNA	Protein	Name
NM_001354705.2	NP_001341634.1	kinesin heavy chain isoform 5A isoform 2
NM_004984.4	NP_004975.2	kinesin heavy chain isoform 5A isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Références	Source
enables protein binding	IPI IPI: Inferred from physical interaction	20386726	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KIF5A Protein Structure

Kinesin

0
200
400
600
800
1032 a.a.

Protein Preferred Names	Protein Names
kinesin heavy chain isoform 5A	KIF5A variant protein

KIF5A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	KIF5A	Q12840	ANKRD27	Homo sapiens	Q96NW4	Y2H Fragment Pooling	22705394
Intra	KIF5A	Q12840	ANKRD27	Homo sapiens	Q96NW4	Anti Bait CoIP	22705394
Intra	KIF5A	Q12840	ANKRD27	Homo sapiens	Q96NW4	Anti Tag CoIP	22705394
Cross	KIF5A	Q12840	Trak2	Rattus norvegicus	Q8R2H7	Anti Tag CoIP	24161670

Cross: Cross-species interaction Intra: Intraspecies interaction

KIF5A Anticorps

Cat. No.	Nom du produit	Application	Reactivity
HY-P811267	KIF5A Antibody	WB, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Spastic Paraplegia 10, Autosomal Dominant	SPG10 Hereditary Spastic Paraplegia 10 Autosomal Dominant Spastic Paraplegia Type 10 Spastic Paraplegia 10 Spastic Paraplegia 10 With Or Without Peripheral Neuropathy Autosomal Dominant Spastic Paraplegia 10 Autosomal Dominant Spastic Paraplegia Spastic Paraplegia, Autosomal Dominant Paraplegia, Spastic, Autosomal Dominant, Type 10
Myoclonus, Intractable, Neonatal	NEIMY
Amyotrophic Lateral Sclerosis 25	Amyotrophic Lateral Sclerosis, Susceptibility To, 25 ALS25 Sclerosis, Lateral, Amyotrophic, Type 25
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Kif5a Mutation	Cmt2 Due To Kif5a Mutation
Demyelinating Polyneuropathy	Peripheral Demyelinating Neuropathy Demyelinating Peripheral Neuropathy
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	FTDALS4 Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-4 Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis, Type 4
Paraplegia	Paraplegia, Lower Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
Charcot-Marie-Tooth Disease, Axonal, Type 2e	Charcot-Marie-Tooth Disease Type 2 CMT2E CMT2S CMT2Y Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease Axonal Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2s Charcot-Marie-Tooth Disease, Type 2e Hereditary Motor And Sensory Neuropathy Type 2 Charcot-Marie-Tooth Neuropathy, Type 2s Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2y Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y Charcot-Marie-Tooth Neuropathy, Type 2y Charcot-Marie-Tooth Disease, Type 2y Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Neuropathy Type 2e Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation Cmt2 Due To Vcp Mutation Charcot-Marie-Tooth Disease Type 2s Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Cmt2 Charcot-Marie-Tooth Neuropathy, Type 2e Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type Hereditary Motor And Sensory Neuropathy Okinawa Type Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y Charcot-Marie-Tooth Neuropathy Type 2y Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s Charcot-Marie-Tooth Neuropathy Type 2s Charcot-Marie-Tooth Type 2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease 2e Charcot-Marie-Tooth Disease Axonal Type 2e Charcot-Marie-Tooth Disease Neuronal Type 2e Charcot-Marie-Tooth Disease 2s Charcot-Marie-Tooth Neuropathy Axonal Type 2s Charcot-Marie-Tooth Disease 2y Charcot-Marie-Tooth Disease, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Nescav Syndrome	NESCAVS Neurodegeneration And Spasticity With Or Without Cerebellar Atrophy Or Cortical Visual Impairment Mrd9 Intellectual Disability, Autosomal Dominant 9 Mental Retardation, Autosomal Dominant 9, Formerly Mrd9, Formerly Autosomal Dominant Intellectual Disability 9 Autosomal Dominant Non-Syndromic Intellectual Disability 9 Mental Retardation, Autosomal Dominant 9
Lateral Sclerosis	Primary Lateral Sclerosis Adult-Onset Primary Lateral Sclerosis Adult-Onset Pls Motor Neuron Disease Pls Pls - [Primary Lateral Sclerosis] Lateral Spinal Sclerosis Lateral Complete Paralysis Lateral Incomplete Paralysis Lateral Paralysis
Hereditary Spastic Paraplegia 30	Autosomal Spastic Paraplegia Type 30 Spg30 Autosomal Recessive Spastic Paraplegia 30
Asbestosis	Idiopathic Interstitial Pneumonitis - From Asbestos Exposure Pulmonary Fibrosis - From Asbestos Exposure
Neuropathy, Hereditary Sensory, Type Id	HSN1D Hereditary Sensory Neuropathy Type 1d Neuropathy, Hereditary Sensory, Type 1d Neuropathy, Hereditary Sensory, 1d Hereditary Sensory Neuropathy Type Id Neuropathy, Sensory, Hereditary, Type Id
Neuropathy, Hereditary Sensory, Type Iic	HSN2C Hereditary Sensory Neuropathy Type 2c Hereditary Sensory Neuropathy Type Iic Neuropathy, Hereditary Sensory, Type 2c Neuropathy, Hereditary Sensory, 2c Hsn Iice Neuropathy, Sensory, Hereditary, Type Iic
Motor Peripheral Neuropathy	Motor Neuritis Peripheral Motor Neuropathy Hereditary Motor And Sensory Neuropathy Hsmn Hsmn - Hereditary Sensory And Motor Neuropathy Neuropathic Muscular Atrophy Hereditary Sensory And Motor Neuropathy Hereditary Motor And Sensory Neuropathies
Spastic Paraplegia 13, Autosomal Dominant	SPG13 Hereditary Spastic Paraplegia 13 Autosomal Dominant Spastic Paraplegia 13 Spastic Paraplegia 13 Autosomal Dominant Spastic Paraplegia Type 13 Spastic Paraplegia-13 Paraplegia, Spastic, Type 13
Spastic Paraplegia 2, X-Linked	SPG2 Hereditary Spastic Paraplegia 2 Sppx2 Spastic Paraplegia Type 2 Spastic Paraplegia 2 Hereditary X-Linked Recessive Spastic Paraplegia X-Linked Spastic Paraplegia 2 X Linked Recessive Hereditary Spastic Paraplegia Spastic Gait Type 2 Spastic Paraparesis Type 2 X-Linked Spastic Paraplegia Type 2 Spastic Paraplegia Type 2, X-Linked Spastic Paraplegia-2 Paraplegia, Spastic, Type 2
Spastic Paraplegia 75, Autosomal Recessive	SPG75 Hereditary Spastic Paraplegia 75 Autosomal Recessive Spastic Paraplegia Type 75 Autosomal Recessive Spastic Paraplegia 75
Masa Syndrome	L1 Syndrome Crash Syndrome X-Linked Hydrocephalus Syndrome SPG1 Gareis-Mason Syndrome Spastic Paraplegia 1, X-Linked Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome L1cam Syndrome Spastic Paraplegia 1 Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs Clasped Thumb And Mental Retardation Thumb, Congenital Clasped, With Mental Retardation Adducted Thumb With Mental Retardation Hereditary Spastic Paraplegia 1 X-Linked Complicated Hereditary Spastic Paraplegia Type 1 X-Linked Corpus Callosum Agenesis X-Linked Spastic Paraplegia 1 L1 Disease X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis Adducted Thumb With Intellectual Disability Clasped Thumb And Intellectual Disability Intellectual Disability Aphasia Shuffling Gait Adducted Thumbs Thumb Congenital Clasped With Intellectual Disability X-Linked Intellectual Disability-Corpus Callosum Agenesis-Spastic Quadriparesis Syndrome Adducted Thumbs-Mental Retardation Syndrome Corpus Callosum Hypoplasia, Mental Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus Syndrome Mental Retardation-Clasped Thumb Syndrome Intellectual Disability-Aphasia-Shuffling Gait-Adducted Thumbs Syndrome Spastic Paraplegia Type 1, X-Linked MASA Corpus Callosum Hypoplasia-Psychomotor Retardation, Adducted Thumbs-Spastic Paraparesis-Hydrocephalus Crash Masa Syndrome
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Amyotrophic Lateral Sclerosis 9	Amyotrophic Lateral Sclerosis Type 9 ALS9 Sclerosis, Lateral, Amyotrophic, Type Type 9
Pseudobulbar Palsy	Pseudobulbar Paralysis
Spastic Paraplegia 42, Autosomal Dominant	SPG42 Hereditary Spastic Paraplegia 42 Autosomal Dominant Spastic Paraplegia Type 42 Autosomal Dominant Spastic Paraplegia 42 Paraplegia, Spastic, Type 42, Autosomal Dominant
Neuronopathy, Distal Hereditary Motor, Type Viib	HMN7B Hmn Viib Dhmn7b Neuropathy, Distal Hereditary Motor, Type Viib Distal Hereditary Motor Neuronopathy Type 7b Distal Hereditary Motor Neuropathy Type Viib Neuronopathy, Distal Hereditary Motor, Type 7b Neuropathy, Distal Hereditary Motor, With Vocal Cord Paralysis, Type Viib Lower Motor Neuron Disease, Dynactin Type Distal Spinal Muscular Atrophy With Vocal Cord Paralysis Type 7b Harper-Young Myopathy Neuronopathy, Distal Hereditary Motor, 7b Distal Hereditary Motor Neuropathy With Vocal Cord Paralysis Type Viib Lower Motor Neuron Disease Dynactin Type Plmnd Progressive Lower Motor Neuron Disease Neuropathy, Motor, Distal, Hereditary, Type Viib
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Charcot-Marie-Tooth Disease Type 4 Charcot-Marie-Tooth Disease Type 4e Hereditary Motor And Sensory Neuropathy Cmt4e CHN1 Hypomyelinating Neuropathy, Congenital, 1 Charcot-Marie-Tooth Neuropathy Type 4e Neuropathy, Congenital Hypomyelinating, 1 Ar-Cmt1 Autosomal Recessive Demyelinating Charcot-Marie-Tooth Cmt4 Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive Hypomyelination, Severe Congenital Charcot-Marie-Tooth Disease, Type 4e Charcot-Marie-Tooth Neuropathy, Type 4e Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy Autosomal Recessive Congenital Hypomyelinating Neuropathy Congenital Amyelinating Neuropathy Congenital Hypomyelinating Neuropathy Autosomal Recessive Neuropathy, Congenital Hypomyelinating Or Amyelinating Severe Congenital Hypomyelination Hereditary Sensory Motor Neuropathy Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive Neuropathy, Hypomyelinating, Congenital, Type 1 Neuropathy, Motor And Sensory, Hereditary Congenital Hypomyelinating Neuropathy Hereditary Motor And Sensory Neuropathies Hereditary Sensorimotor Neuropathy Hmsn - [Hereditary Motor And Sensory Neuropathy] Hsmn - [Hereditary Sensory And Motor Neuropathy] Hereditary Motor And Sensory Neuropathy, Types I-Iv
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	FTDALS1 Frontotemporal Dementia And/Or Motor Neuron Disease Ftdmnd Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia Alsftd Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1 Frontotemporal Dementia With Motor Neuron Disease Ftdals Ftd-Als Ftd-Mnd Frontotemporal Dementia With Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1 Frontotemporal Lobar Degeneration Grn-Related Frontotemporal Dementia
Spastic Paraplegia 17, Autosomal Dominant	Silver Syndrome SPG17 Silver Spastic Paraplegia Syndrome Spastic Paraplegia With Amyotrophy Of Hands And Feet Hereditary Spastic Paraplegia 17 Autosomal Dominant Spastic Paraplegia Type 17 Spastic Paraplegia 17 Spastic Paraplegia-Amyotrophy Of Hands And Feet Autosomal Dominant Spastic Paraplegia 17 Dhmn5b Distal Hereditary Motor Neuropathy Type 5b Paraplegia, Spastic, Autosomal Dominant, Type 17 Russell-Silver Syndrome Neuronopathy, Distal Hereditary Motor, Type Vb
Spastic Ataxia	Spax Ataxia, Spastic
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS07289	KIF5A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	KIF5A	VGNC	VGNC:99946
Canis familiaris	KIF5A	VGNC	VGNC:42407
Mus musculus	KIF5A	MGD	MGI:109564
Felis catus	KIF5A	VGNC	VGNC:67944
Rattus norvegicus	KIF5A	RGD	RGD:1303035
Bos taurus	KIF5A	VGNC	VGNC:30605
Others	KIF5A	NCBI