KIF1C
Kinesin-like protein KIF1C
Also known as: KIF1C_HUMAN, SAX2, SPAX2, SPG58
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O43896
- Gene
- KIF1C
- Ensembl
- ENSG00000129250
- Chromosome
- 17
- Canonical length
- 1103 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Nucleoli,Principal piece
OverviewNCBI Gene
The protein encoded by this gene is a member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. Mutations in this gene are a cause of spastic ataxia 2, autosomal recessive. [provided by RefSeq, May 2014]
Canonical amino-acid sequenceUniProt
1103 residues, UniProt reviewed canonical sequence.
>O43896|KIF1C
1 MAGASVKVAV RVRPFNARET SQDAKCVVSM QGNTTSIINP KQSKDAPKSF TFDYSYWSHT
61 STEDPQFASQ QQVYRDIGEE MLLHAFEGYN VCIFAYGQTG AGKSYTMMGR QEPGQQGIVP
121 QLCEDLFSRV SENQSAQLSY SVEVSYMEIY CERVRDLLNP KSRGSLRVRE HPILGPYVQD
181 LSKLAVTSYA DIADLMDCGN KARTVAATNM NETSSRSHAV FTIVFTQRCH DQLTGLDSEK
241 VSKISLVDLA GSERADSSGA RGMRLKEGAN INKSLTTLGK VISALADMQS KKRKSDFIPY
301 RDSVLTWLLK ENLGGNSRTA MIAALSPADI NYEETLSTLR YADRTKQIRC NAIINEDPNA
361 RLIRELQEEV ARLRELLMAQ GLSASALEGL KTEEGSVRGA LPAVSSPPAP VSPSSPTTHN
421 GELEPSFSPN TESQIGPEEA MERLQETEKI IAELNETWEE KLRKTEALRM EREALLAEMG
481 VAVREDGGTV GVFSPKKTPH LVNLNEDPLM SECLLYHIKD GVTRVGQVDM DIKLTGQFIR
541 EQHCLFRSIP QPDGEVVVTL EPCEGAETYV NGKLVTEPLV LKSGNRIVMG KNHVFRFNHP
601 EQARLERERG VPPPPGPPSE PVDWNFAQKE LLEQQGIDIK LEMEKRLQDL ENQYRKEKEE
661 ADLLLEQQRL YADSDSGDDS DKRSCEESWR LISSLREQLP PTTVQTIVKR CGLPSSGKRR
721 APRRVYQIPQ RRRLQGKDPR WATMADLKMQ AVKEICYEVA LADFRHGRAE IEALAALKMR
781 ELCRTYGKPD GPGDAWRAVA RDVWDTVGEE EGGGAGSGGG SEEGARGAEV EDLRAHIDKL
841 TGILQEVKLQ NSSKDRELQA LRDRMLRMER VIPLAQDHED ENEEGGEVPW APPEGSEAAE
901 EAAPSDRMPS ARPPSPPLSS WERVSRLMEE DPAFRRGRLR WLKQEQLRLQ GLQGSGGRGG
961 GLRRPPARFV PPHDCKLRFP FKSNPQHRES WPGMGSGEAP TPLQPPEEVT PHPATPARRP
1021 PSPRRSHHPR RNSLDGGGRS RGAGSAQPEP QHFQPKKHNS YPQPPQPYPA QRPPGPRYPP
1081 YTTPPRMRRQ RSAPDLKESG AAVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against KIF1C 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)
- 0.44
- Highest tissue expression
- 526 nTPM
Expression across tissuesHPA
Tissue
- skeletal muscle: 526 nTPM
- tongue: 363 nTPM
- spinal cord: 255 nTPM
- midbrain: 208 nTPM
- heart muscle: 165 nTPM
- hippocampal formation: 156 nTPM
Single-cell type
- esophageal apical cells: 328 nCPM
- colonocytes: 140 nCPM
- thymic myoid cells: 103 nCPM
- esophageal suprabasal cells: 99 nCPM
- hepatocytes: 96 nCPM
- goblet cells: 90 nCPM
Immune cell
- neutrophil: 1.1 nTPM
- eosinophil: 0.7 nTPM
- basophil: 0.5 nTPM
- classical monocyte: 0.4 nTPM
- intermediate monocyte: 0.4 nTPM
- memory B-cell: 0.4 nTPM
Brain region
- white matter: 286 nTPM
- basal ganglia: 259 nTPM
- midbrain: 231 nTPM
- medulla oblongata: 231 nTPM
- spinal cord: 202 nTPM
- thalamus: 198 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about KIF1C.
Disease | AllUniProt
Conditions KIF1C is implicated in, by any mechanism.
- Spastic ataxia 2, autosomal recessive (SPAX2) MIM:611302
Disease | GeneticClinVar
38 pathogenic / likely-pathogenic of 804 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Spastic ataxia 2
- KIF1C-related disorder
- Hereditary spastic paraplegia
- Cerebellar ataxia
- Intellectual disability
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)
- 0.34
- gnomAD pLI
- 0.72
- gnomAD missense Z
- 1.4
- DepMap mean gene effect
- -0.05
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- anterograde neuronal dense core vesicle transport
- retrograde neuronal dense core vesicle transport
- retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum
- vesicle-mediated transport
Molecular functions
- ATP binding
- ATP hydrolysis activity
- cytoskeletal motor activity
- microtubule binding
- plus-end-directed microtubule motor activity
- RNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of KIF1C 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 KIF1C as an antibody target. Whether an autoantibody or antibody against KIF1C could matter depends on whether native KIF1C is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
KIF1C 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 KIF1C as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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