Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10749
Gene name Gene Name - the full gene name approved by the HGNC.
Kinesin family member 1C
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KIF1C
Synonyms (NCBI Gene) Gene synonyms aliases
LTXS1, SATX2, SAX2, SPAX2, SPG58
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SPAX2
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.2
Summary Summary of gene provided in NCBI Entrez 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 c
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003774 Function Motor activity TAS 9685376
GO:0003777 Function Microtubule motor activity IBA 21873635
GO:0005515 Function Protein binding IPI 20360680, 24482476
GO:0005524 Function ATP binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603060 6317 ENSG00000129250
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Ataxia ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) rs606231134, rs119103243, rs119103244, rs119103245, rs606231135, rs119468005, rs119468006, rs387906298, rs606231138, rs606231139, rs119468008, rs387906299, rs606231292, rs1553281318, rs794727986
View all (52 more)
24482476, 24808017, 24319291, 26633545, 28687974
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Mental retardation Mild Mental Retardation rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Microcephaly Microcephaly rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019
View all (280 more)
Unknown
Disease term Disease name Evidence References Source
Distal amyotrophy Distal amyotrophy ClinVar
Spastic Ataxia spastic ataxia 2 GenCC
Keratoconus Keratoconus GWAS
Associations from Text Mining
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