Gene Gene information from NCBI Gene database.
Entrez ID 10749
Gene name Kinesin family member 1C
Gene symbol KIF1C
Synonyms (NCBI Gene)
LTXS1SATX2SAX2SPAX2SPG58
Chromosome 17
Chromosome location 17p13.2
Summary 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 c
SNPs SNP information provided by dbSNP.
6
SNP ID Visualize variation Clinical significance Consequence
rs118037269 G>A Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance Coding sequence variant, missense variant
rs138935423 C>T Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, missense variant
rs148934699 C>T Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-pathogenic Missense variant, coding sequence variant
rs202232792 C>T Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign Coding sequence variant, missense variant
rs587777197 C>T Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
1170
miRTarBase ID miRNA Experiments Reference
MIRT029029 hsa-miR-26b-5p Microarray 19088304
MIRT051959 hsa-let-7b-5p CLASH 23622248
MIRT045685 hsa-miR-149-5p CLASH 23622248
MIRT041907 hsa-miR-484 CLASH 23622248
MIRT041907 hsa-miR-484 CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003774 Function Cytoskeletal motor activity IEA
GO:0003774 Function Cytoskeletal motor activity TAS 9685376
GO:0003777 Function Microtubule motor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603060 6317 ENSG00000129250
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43896
Protein name Kinesin-like protein KIF1C
Protein function Motor required for the retrograde transport of Golgi vesicles to the endoplasmic reticulum. Has a microtubule plus end-directed motility.
PDB 2G1L , 9KO8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00225 Kinesin 11 348 Kinesin motor domain Domain
PF16183 Kinesin_assoc 352 522 Kinesin-associated Family
PF00498 FHA 523 590 FHA domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues examined, with most abundant expression in heart and skeletal muscle. {ECO:0000269|PubMed:9685376}.
Sequence
MAGASVKVAVRVRPFNARETSQDAKCVVSMQGNTTSIINPKQSKDAPKSFTFDYSYWSHT
STEDPQFASQQQVYRDIGEEMLLHAFEGYNVCIFAYGQTGAGKSYTMMGRQEPGQQGIVP
QLCEDLFSRVSENQSAQLSYSVEVSYMEIYCERVRDLLNPKSRGSLRVREHPILGPYVQD
LSKLAVTSYADIADLMDCGNKARTVAATNMNETSSRSHAVFTIVFTQRCHDQLTGLDSEK
VSKISLVDLAGSERADSSGARGMRLKEGANINKSLTTLGKVISALADMQSKKRKSDFIPY
RDSVLTWLLKENLGGNSRTAMIAALSPADINYEETLSTLRYADRTKQI
RCNAIINEDPNA
RLIRELQEEVARLRELLMAQGLSASALEGLKTEEGSVRGALPAVSSPPAPVSPSSPTTHN
GELEPSFSPNTESQIGPEEAMERLQETEKIIAELNETWEEKLRKTEALRMEREALLAEMG
VAVREDGGTVGVFSPKKTPHLVNLNEDPLMSECLLYHIKDGV
TRVGQVDMDIKLTGQFIR
EQHCLFRSIPQPDGEVVVTLEPCEGAETYVNGKLVTEPLVLKSGNRIVMG
KNHVFRFNHP
EQARLERERGVPPPPGPPSEPVDWNFAQKELLEQQGIDIKLEMEKRLQDLENQYRKEKEE
ADLLLEQQRLYADSDSGDDSDKRSCEESWRLISSLREQLPPTTVQTIVKRCGLPSSGKRR
APRRVYQIPQRRRLQGKDPRWATMADLKMQAVKEICYEVALADFRHGRAEIEALAALKMR
ELCRTYGKPDGPGDAWRAVARDVWDTVGEEEGGGAGSGGGSEEGARGAEVEDLRAHIDKL
TGILQEVKLQNSSKDRELQALRDRMLRMERVIPLAQDHEDENEEGGEVPWAPPEGSEAAE
EAAPSDRMPSARPPSPPLSSWERVSRLMEEDPAFRRGRLRWLKQEQLRLQGLQGSGGRGG
GLRRPPARFVPPHDCKLRFPFKSNPQHRESWPGMGSGEAPTPLQPPEEVTPHPATPARRP
PSPRRSHHPRRNSLDGGGRSRGAGSAQPEPQHFQPKKHNSYPQPPQPYPAQRPPGPRYPP
YTTPPRMRRQRSAPDLKESGAAV
Sequence length 1103
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Motor proteins   COPI-dependent Golgi-to-ER retrograde traffic
Kinesins
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
616
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal central motor function Pathogenic rs2143382149 RCV001814415
Cerebellar ataxia Pathogenic rs1597846084 RCV001003621
Hereditary spastic paraplegia Likely pathogenic rs886041035 RCV001847658
Intellectual disability Pathogenic rs1597846084 RCV000850202
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Conflicting classifications of pathogenicity rs118037269 RCV005899673
Cervical cancer Benign; Likely benign; Conflicting classifications of pathogenicity rs148404628, rs142056835 RCV005897968
RCV005899677
Cholangiocarcinoma Benign rs55675853 RCV005915333
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity rs142056835 RCV005899678
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Ataxia Associate 31413903, 35326432
Atrial myxoma familial Associate 37452081
Cerebellar Ataxia Associate 24808017, 31413903
Cerebellar Diseases Associate 35326432, 35961316
Demyelinating Diseases Associate 31413903
Disease Associate 33161238
Dystonia Associate 31413903
Leukoencephalopathies Associate 31413903
Lymphangioleiomyomatosis Associate 37452081
Motor Neuron Disease Associate 35961316