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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
32
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormal central motor function Pathogenic rs2143382149 RCV001814415
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar ataxia Pathogenic rs1597846084 RCV001003621
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia Likely pathogenic rs886041035 RCV001847658
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability Pathogenic rs1597846084 RCV000850202
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL SPASTIC PARAPLEGIA TYPE 58 Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign; Likely benign; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Ataxia Ataxia Pubtator 31413903, 35326432 Associate
★☆☆☆☆
Found in Text Mining only
ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) Ataxia ORPHANET_DG 24319291, 24482476
★☆☆☆☆
Found in Text Mining only
ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) Ataxia UNIPROT_DG 24319291, 24482476
★☆☆☆☆
Found in Text Mining only
ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) Ataxia CLINVAR_DG 24319291, 24482476, 26633545, 28687974
★☆☆☆☆
Found in Text Mining only
ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) Ataxia GENOMICS_ENGLAND_DG 24319291, 24808017
★☆☆☆☆
Found in Text Mining only
ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) Ataxia BEFREE 30067756
★☆☆☆☆
Found in Text Mining only
ATAXIA, SPASTIC, 2, AUTOSOMAL RECESSIVE (disorder) Ataxia CTD_human_DG
★☆☆☆☆
Found in Text Mining only
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION Ataxia, spastic with optic atrophy and mental retardation CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Atrial myxoma familial Atrial myxoma Pubtator 37452081 Associate
★☆☆☆☆
Found in Text Mining only
Autosomal spastic paraplegia type 58 Spastic Paraplegia Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations