• Gene id: 3798

Gene Summary

• Gene Symbol: KIF5A   Gene   UCSC   Ensembl
• Aliases: ALS25, D12S1889, MY050, NEIMY, NKHC, SPG10
• Gene name: kinesin family member 5A
• Alternate names: kinesin heavy chain isoform 5A, KIF5A variant protein, kinesin heavy chain neuron-specific 1, kinesin, heavy chain, neuron-specific, neuronal kinesin heavy chain,
• Gene location: 12q13.3 (57550038: 57586632)     Exons: 10     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 602821

Protein Summary

• Protein general information: Q12840  
  • Name: Kinesin heavy chain isoform 5A (Kinesin heavy chain neuron specific 1) (Neuronal kinesin heavy chain) (NKHC)
  • Length: 1032  
  • Mass: 117378
  • Tissue specificity: Distributed throughout the CNS but is highly enriched in subsets of neurons.
• Sequence:

  MAETNNECSIKVLCRFRPLNQAEILRGDKFIPIFQGDDSVVIGGKPYVFDRVFPPNTTQEQVYHACAMQIVKDVL
  AGYNGTIFAYGQTSSGKTHTMEGKLHDPQLMGIIPRIARDIFNHIYSMDENLEFHIKVSYFEIYLDKIRDLLDVT
  KTNLSVHEDKNRVPFVKGCTERFVSSPEEILDVIDEGKSNRHVAVTNMNEHSSRSHSIFLINIKQENMETEQKLS
  GKLYLVDLAGSEKVSKTGAEGAVLDEAKNINKSLSALGNVISALAEGTKSYVPYRDSKMTRILQDSLGGNCRTTM
  FICCSPSSYNDAETKSTLMFGQRAKTIKNTASVNLELTAEQWKKKYEKEKEKTKAQKETIAKLEAELSRWRNGEN
  VPETERLAGEEAALGAELCEETPVNDNSSIVVRIAPEERQKYEEEIRRLYKQLDDKDDEINQQSQLIEKLKQQML
  DQEELLVSTRGDNEKVQRELSHLQSENDAAKDEVKEVLQALEELAVNYDQKSQEVEEKSQQNQLLVDELSQKVAT
  MLSLESELQRLQEVSGHQRKRIAEVLNGLMKDLSEFSVIVGNGEIKLPVEISGAIEEEFTVARLYISKIKSEVKS
  VVKRCRQLENLQVECHRKMEVTGRELSSCQLLISQHEAKIRSLTEYMQSVELKKRHLEESYDSLSDELAKLQAQE
  TVHEVALKDKEPDTQDADEVKKALELQMESHREAHHRQLARLRDEINEKQKTIDELKDLNQKLQLELEKLQADYE
  KLKSEEHEKSTKLQELTFLYERHEQSKQDLKGLEETVARELQTLHNLRKLFVQDVTTRVKKSAEMEPEDSGGIHS
  QKQKISFLENNLEQLTKVHKQLVRDNADLRCELPKLEKRLRATAERVKALEGALKEAKEGAMKDKRRYQQEVDRI
  KEAVRYKSSGKRGHSAQIAKPVRPGHYPASSPTNPYGTRSPECISYTNSLFQNYQNLYLQATPSSTSDMYFANSC
  TSSGATSSGGPLASYQKANMDNGNATDINDNRSDLPCGYEAEDQAKLFPLHQETAAS

• Structural information:
  • Protein Domains: (9..32-)
    (/note="Kinesin-motor)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00283"-)
  • Interpro: IPR027640  IPR019821  IPR001752  IPR036961  IPR027417  
  • Prosite: PS00411 PS50067
  • PDB: 4UXT 4UXY 4UY0
  • PDBsum: 4UXT 4UXY 4UY0
  • DIP: 37584
  • STRING: ENSP00000408979
• Other Databases: GeneCards:  KIF5A  Malacards:  KIF5A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990049	retrograde neuronal dense core vesicle transport	ISS	biological process
GO:0005874	microtubule	IBA	cellular component
GO:0007411	axon guidance	IBA	biological process
GO:0008574	ATP-dependent microtubule motor activity, plus-end-directed	IBA	molecular function
GO:0016887	ATPase activity	IBA	molecular function
GO:0048489	synaptic vesicle transport	IBA	biological process
GO:0003777	microtubule motor activity	IBA	molecular function
GO:0005871	kinesin complex	IBA	cellular component
GO:0007018	microtubule-based movement	IBA	biological process
GO:0008017	microtubule binding	IBA	molecular function
GO:0030705	cytoskeleton-dependent intracellular transport	IBA	biological process
GO:0098971	anterograde dendritic transport of neurotransmitter receptor complex	IBA	biological process
GO:0016192	vesicle-mediated transport	ISS	biological process
GO:0099641	anterograde axonal protein transport	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003777	microtubule motor activity	IEA	molecular function
GO:0007018	microtubule-based movement	IEA	biological process
GO:0008017	microtubule binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0003774	motor activity	TAS	molecular function
GO:0016020	membrane	TAS	cellular component
GO:0005871	kinesin complex	TAS	cellular component
GO:0007018	microtubule-based movement	TAS	biological process
GO:0007268	chemical synaptic transmission	TAS	biological process
GO:0006890	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	TAS	biological process
GO:0019886	antigen processing and presentation of exogenous peptide antigen via MHC class II	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0007018	microtubule-based movement	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043025	neuronal cell body	IEA	cellular component
GO:0019894	kinesin binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0098971	anterograde dendritic transport of neurotransmitter receptor complex	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0035253	ciliary rootlet	IEA	cellular component
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0008017	microtubule binding	IEA	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0032839	dendrite cytoplasm	IEA	cellular component
GO:0032839	dendrite cytoplasm	IEA	cellular component
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease
hsa05016	Huntington disease
hsa04144	Endocytosis
hsa05012	Parkinson disease
hsa04728	Dopaminergic synapse

Diseases

Associated diseases	References
Hereditary spastic paraplegia	KEGG:H00266
Hereditary spastic paraplegia	KEGG:H00266
Hereditary spastic paraplegia 10	PMID:26374131
Prostate cancer	PMID:23265383
Multiple sclerosis	PMID:20508602
Rheumatoid arthritis	PMID:21784728
asbestos-related lung carcinoma	PMID:21231887
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R