KIF5C
Kinesin heavy chain isoform 5C
Also known as: KIF5C_HUMAN, NKHC2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O60282
- Gene
- KIF5C
- Ensembl
- ENSG00000168280
- Chromosome
- 2
- Canonical length
- 957 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Cytosol,Equatorial segment,Connecting piece
OverviewNCBI Gene
The protein encoded by this gene is a kinesin heavy chain subunit involved in the transport of cargo within the central nervous system. The encoded protein, which acts as a tetramer by associating with another heavy chain and two light chains, interacts with protein kinase CK2. Mutations in this gene have been associated with complex cortical dysplasia with other brain malformations-2. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Jul 2015]
Canonical amino-acid sequenceUniProt
957 residues, UniProt reviewed canonical sequence.
>O60282|KIF5C
1 MADPAECSIK VMCRFRPLNE AEILRGDKFI PKFKGDETVV IGQGKPYVFD RVLPPNTTQE
61 QVYNACAKQI VKDVLEGYNG TIFAYGQTSS GKTHTMEGKL HDPQLMGIIP RIAHDIFDHI
121 YSMDENLEFH IKVSYFEIYL DKIRDLLDVS KTNLAVHEDK NRVPYVKGCT ERFVSSPEEV
181 MDVIDEGKAN RHVAVTNMNE HSSRSHSIFL INIKQENVET EKKLSGKLYL VDLAGSEKVS
241 KTGAEGAVLD EAKNINKSLS ALGNVISALA EGTKTHVPYR DSKMTRILQD SLGGNCRTTI
301 VICCSPSVFN EAETKSTLMF GQRAKTIKNT VSVNLELTAE EWKKKYEKEK EKNKTLKNVI
361 QHLEMELNRW RNGEAVPEDE QISAKDQKNL EPCDNTPIID NIAPVVAGIS TEEKEKYDEE
421 ISSLYRQLDD KDDEINQQSQ LAEKLKQQML DQDELLASTR RDYEKIQEEL TRLQIENEAA
481 KDEVKEVLQA LEELAVNYDQ KSQEVEDKTR ANEQLTDELA QKTTTLTTTQ RELSQLQELS
541 NHQKKRATEI LNLLLKDLGE IGGIIGTNDV KTLADVNGVI EEEFTMARLY ISKMKSEVKS
601 LVNRSKQLES AQMDSNRKMN ASERELAACQ LLISQHEAKI KSLTDYMQNM EQKRRQLEES
661 QDSLSEELAK LRAQEKMHEV SFQDKEKEHL TRLQDAEEMK KALEQQMESH REAHQKQLSR
721 LRDEIEEKQK IIDEIRDLNQ KLQLEQEKLS SDYNKLKIED QEREMKLEKL LLLNDKREQA
781 REDLKGLEET VSRELQTLHN LRKLFVQDLT TRVKKSVELD NDDGGGSAAQ KQKISFLENN
841 LEQLTKVHKQ LVRDNADLRC ELPKLEKRLR ATAERVKALE SALKEAKENA MRDRKRYQQE
901 VDRIKEAVRA KNMARRAHSA QIAKPIRPGH YPASSPTAVH AIRGGGGSSS NSTHYQKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against KIF5C can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.42
- Highest tissue expression
- 52 nTPM
Expression across tissuesHPA
Tissue
- cerebral cortex: 52 nTPM
- amygdala: 42 nTPM
- hippocampal formation: 29 nTPM
- spinal cord: 24 nTPM
- basal ganglia: 23 nTPM
- cerebellum: 21 nTPM
Single-cell type
- late spermatids: 878 nCPM
- early spermatids: 653 nCPM
- brain excitatory neurons: 375 nCPM
- brain inhibitory neurons: 290 nCPM
- retinal amacrine cells: 282 nCPM
- sertoli cells: 276 nCPM
Immune cell
- MAIT T-cell: 0.2 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- cerebral cortex: 244 nTPM
- thalamus: 200 nTPM
- amygdala: 192 nTPM
- white matter: 172 nTPM
- pons: 151 nTPM
- hippocampal formation: 143 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about KIF5C.
Disease | AllUniProt
Conditions KIF5C is implicated in, by any mechanism.
- Cortical dysplasia, complex, with other brain malformations 2 (CDCBM2) MIM:615282
Disease | GeneticClinVar
10 pathogenic / likely-pathogenic of 303 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Complex cortical dysplasia with other brain malformations 2
- Cortical dysplasia
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.12
- gnomAD pLI
- 1
- gnomAD missense Z
- 4.05
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- anterograde axonal protein transport
- anterograde dendritic transport of messenger ribonucleoprotein complex
- anterograde dendritic transport of neurotransmitter receptor complex
- axon guidance
- intracellular mRNA localization
- motor neuron axon guidance
- mRNA transport
- organelle organization
- synaptic vesicle transport
Molecular functions
- apolipoprotein receptor binding
- ATP binding
- ATP hydrolysis activity
- microtubule binding
- microtubule motor activity
- plus-end-directed microtubule motor activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of KIF5C in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads KIF5C as an antibody target. Whether an autoantibody or antibody against KIF5C could matter depends on whether native KIF5C is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
KIF5C is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label KIF5C as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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