Seroatlas · Human Serome Atlas

KIF5A

Kinesin heavy chain isoform 5A

Also known as: D12S1889, KIF5A_HUMAN, MY050, NKHC, SPG10

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q12840
Gene: KIF5A
Ensembl: ENSG00000155980
Chromosome: 12
Canonical length: 1032 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Plasma membrane,Mitotic spindle,Cytosol,Mid piece,Principal piece

OverviewNCBI 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 paraplegia 10. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1032 residues, UniProt reviewed canonical sequence.

>Q12840|KIF5A
     1  MAETNNECSI KVLCRFRPLN QAEILRGDKF IPIFQGDDSV VIGGKPYVFD RVFPPNTTQE
    61  QVYHACAMQI VKDVLAGYNG TIFAYGQTSS GKTHTMEGKL HDPQLMGIIP RIARDIFNHI
   121  YSMDENLEFH IKVSYFEIYL DKIRDLLDVT KTNLSVHEDK NRVPFVKGCT ERFVSSPEEI
   181  LDVIDEGKSN RHVAVTNMNE HSSRSHSIFL INIKQENMET EQKLSGKLYL VDLAGSEKVS
   241  KTGAEGAVLD EAKNINKSLS ALGNVISALA EGTKSYVPYR DSKMTRILQD SLGGNCRTTM
   301  FICCSPSSYN DAETKSTLMF GQRAKTIKNT ASVNLELTAE QWKKKYEKEK EKTKAQKETI
   361  AKLEAELSRW RNGENVPETE RLAGEEAALG AELCEETPVN DNSSIVVRIA PEERQKYEEE
   421  IRRLYKQLDD KDDEINQQSQ LIEKLKQQML DQEELLVSTR GDNEKVQREL SHLQSENDAA
   481  KDEVKEVLQA LEELAVNYDQ KSQEVEEKSQ QNQLLVDELS QKVATMLSLE SELQRLQEVS
   541  GHQRKRIAEV LNGLMKDLSE FSVIVGNGEI KLPVEISGAI EEEFTVARLY ISKIKSEVKS
   601  VVKRCRQLEN LQVECHRKME VTGRELSSCQ LLISQHEAKI RSLTEYMQSV ELKKRHLEES
   661  YDSLSDELAK LQAQETVHEV ALKDKEPDTQ DADEVKKALE LQMESHREAH HRQLARLRDE
   721  INEKQKTIDE LKDLNQKLQL ELEKLQADYE KLKSEEHEKS TKLQELTFLY ERHEQSKQDL
   781  KGLEETVARE LQTLHNLRKL FVQDVTTRVK KSAEMEPEDS GGIHSQKQKI SFLENNLEQL
   841  TKVHKQLVRD NADLRCELPK LEKRLRATAE RVKALEGALK EAKEGAMKDK RRYQQEVDRI
   901  KEAVRYKSSG KRGHSAQIAK PVRPGHYPAS SPTNPYGTRS PECISYTNSL FQNYQNLYLQ
   961  ATPSSTSDMY FANSCTSSGA TSSGGPLASY QKANMDNGNA TDINDNRSDL PCGYEAEDQA
  1021  KLFPLHQETA AS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KIF5A 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): 0.45
Highest tissue expression: 1,437 nTPM

Expression across tissuesHPA

Tissue

cerebral cortex: 1,437 nTPM
amygdala: 1,211 nTPM
basal ganglia: 678 nTPM
hippocampal formation: 665 nTPM
hypothalamus: 274 nTPM
cerebellum: 205 nTPM

Single-cell type

other brain neurons: 125 nCPM
retinal ganglion cells: 104 nCPM
cardiomyocytes: 100 nCPM
brain excitatory neurons: 98 nCPM
brain inhibitory neurons: 87 nCPM
late spermatids: 60 nCPM

Immune cell

naive CD8 T-cell: 2.2 nTPM
MAIT T-cell: 1.6 nTPM
memory CD8 T-cell: 1.2 nTPM
neutrophil: 1.1 nTPM
non-classical monocyte: 1.1 nTPM
gdT-cell: 1 nTPM

Brain region

cerebral cortex: 1,387 nTPM
white matter: 780 nTPM
amygdala: 572 nTPM
basal ganglia: 495 nTPM
hippocampal formation: 421 nTPM
pons: 386 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KIF5A.

Disease | AllUniProt

Conditions KIF5A is implicated in, by any mechanism.

Spastic paraplegia 10, autosomal dominant (SPG10) MIM:604187
Myoclonus, intractable, neonatal (NEIMY) MIM:617235
Amyotrophic lateral sclerosis 25 (ALS25) MIM:617921

Disease | GeneticClinVar

95 pathogenic / likely-pathogenic of 1,510 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Spastic paraplegia
Hereditary spastic paraplegia 10
Myoclonus, intractable, neonatal
Hereditary spastic paraplegia
KIF5A-related disorder

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): 0.23
gnomAD pLI: 1
gnomAD missense Z: 3.6
DepMap mean gene effect: -0.1
DepMap dependency class: selective

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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of KIF5A 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 KIF5A as an antibody target. Whether an autoantibody or antibody against KIF5A could matter depends on whether native KIF5A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KIF5A 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 KIF5A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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