U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    KIF1C kinesin family member 1C [ Homo sapiens (human) ]

    Gene ID: 10749, updated on 13-Jun-2024

    Summary

    Official Symbol
    KIF1Cprovided by HGNC
    Official Full Name
    kinesin family member 1Cprovided by HGNC
    Primary source
    HGNC:HGNC:6317
    See related
    Ensembl:ENSG00000129250 MIM:603060; AllianceGenome:HGNC:6317
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SAX2; LTXS1; SATX2; SPAX2; SPG58
    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 cause of spastic ataxia 2, autosomal recessive. [provided by RefSeq, May 2014]
    Expression
    Ubiquitous expression in heart (RPKM 51.8), fat (RPKM 28.5) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See KIF1C in Genome Data Viewer
    Location:
    17p13.2
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (4997950..5028401)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (4888274..4918727)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (4901245..4931696)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903901 Neighboring gene calmodulin binding transcription activator 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8059 Neighboring gene CAMTA2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8060 Neighboring gene inhibitor of CDK, cyclin A1 interacting protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8061 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4902950-4903561 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4903562-4904172 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:4906716-4907915 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8063 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:4923264-4924463 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:4925730-4926294 Neighboring gene KIF1C antisense RNA 1 Neighboring gene uncharacterized LOC105371501 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8064 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11564 Neighboring gene solute carrier family 52 member 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:4946945-4947093 Neighboring gene Sharpr-MPRA regulatory region 9431 Neighboring gene zinc finger with KRAB and SCAN domains 1 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Spastic ataxia 2
    MedGen: C1969796 OMIM: 611302 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    capsid gag The ability of exogenously expressed FEZ1 binding to kinesin-1 to promote early HIV-1 infection, leading to the movement of HIV-1 CA core to the nucleus PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0706

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA binding HDA PubMed 
    enables cytoskeletal motor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables plus-end-directed microtubule motor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in anterograde neuronal dense core vesicle transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cytoskeleton-dependent intracellular transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in microtubule-based movement IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in retrograde neuronal dense core vesicle transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in dendrite IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum TAS
    Traceable Author Statement
    more info
    PubMed 
    part_of kinesin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    kinesin-like protein KIF1C
    Names
    spastic ataxia 2 (autosomal recessive)

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_034137.1 RefSeqGene

      Range
      5003..35454
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_006612.6NP_006603.2  kinesin-like protein KIF1C

      See identical proteins and their annotated locations for NP_006603.2

      Status: REVIEWED

      Source sequence(s)
      AC012146, BC034993, BC040307, BM458656
      Consensus CDS
      CCDS11065.1
      UniProtKB/Swiss-Prot
      D3DTL6, O43896, O75186, Q5U618
      Related
      ENSP00000320821.5, ENST00000320785.10
      Conserved Domains (3) summary
      cd00060
      Location:499599
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cd01365
      Location:4355
      KISc_KIF1A_KIF1B; Kinesin motor domain, KIF1_like proteins
      pfam16183
      Location:352522
      Kinesin_assoc; Kinesin-associated

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      4997950..5028401
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005256424.3XP_005256481.1  kinesin-like protein KIF1C isoform X1

      See identical proteins and their annotated locations for XP_005256481.1

      UniProtKB/Swiss-Prot
      D3DTL6, O43896, O75186, Q5U618
      Conserved Domains (3) summary
      cd00060
      Location:499599
      FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...
      cd01365
      Location:4355
      KISc_KIF1A_KIF1B; Kinesin motor domain, KIF1_like proteins
      pfam16183
      Location:352522
      Kinesin_assoc; Kinesin-associated

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      4888274..4918727
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314745.1XP_054170720.1  kinesin-like protein KIF1C isoform X1

      UniProtKB/Swiss-Prot
      D3DTL6, O43896, O75186, Q5U618