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    KIF5C kinesin family member 5C [ Homo sapiens (human) ]

    Gene ID: 3800, updated on 10-Dec-2024

    Summary

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    Official Symbol
    KIF5Cprovided by HGNC
    Official Full Name
    kinesin family member 5Cprovided by HGNC
    Primary source
    HGNC:HGNC:6325
    See related
    Ensembl:ENSG00000168280 MIM:604593; AllianceGenome:HGNC:6325
    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
    KINN; NKHC; NKHC2; CDCBM2; NKHC-2
    Summary
    The protein encoded by this gene is a kinesin heavy chain subunit involved in the transport of cargo within the central nervous system. The encoded protein, which acts as a tetramer by associating with another heavy chain and two light chains, interacts with protein kinase CK2. Mutations in this gene have been associated with complex cortical dysplasia with other brain malformations-2. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Jul 2015]
    Expression
    Biased expression in brain (RPKM 82.3), testis (RPKM 17.1) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KIF5C in Genome Data Viewer
    Location:
    2q23.1-q23.2
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (148875227..149026759)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (149325585..149477131)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (149632796..149883273)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12001 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:149633462-149634040 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:149634041-149634620 Neighboring gene KIF5C antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:149645774-149646369 Neighboring gene ribosomal protein S20 pseudogene 13 Neighboring gene USP8 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 1843 Neighboring gene uncharacterized LOC101928553 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:149683568-149684192 Neighboring gene Sharpr-MPRA regulatory region 9639 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:149830455-149831291 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:149855785-149856718 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:149856719-149857650 Neighboring gene NANOG hESC enhancer GRCh37_chr2:149883850-149884499 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16622 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12002 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16623 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16624 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16625 Neighboring gene LY6/PLAUR domain containing 6B Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:149937379-149937971 Neighboring gene thioredoxin pseudogene 5 Neighboring gene uncharacterized LOC105373677

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy. Naim A, et al. Eur J Med Genet, 2022 Nov. PMID 36122673
    2. Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical development. Michels S, et al. Am J Med Genet A, 2017 Dec. PMID 29048727, Free PMC Article
    3. Kinesin-2 Controls the Motility of RAB5 Endosomes and Their Association with the Spindle in Mitosis. Pupo E, et al. Int J Mol Sci, 2018 Aug 30. PMID 30200238, Free PMC Article
    4. Mapping the GRIF-1 binding domain of the kinesin, KIF5C, substantiates a role for GRIF-1 as an adaptor protein in the anterograde trafficking of cargoes. Smith MJ, et al. J Biol Chem, 2006 Sep 15. PMID 16835241
    5. The kinesin I family member KIF5C is a novel substrate for protein kinase CK2. Schäfer B, et al. Biochem Biophys Res Commun, 2008 Oct 17. PMID 18682247

    See all (68) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LncRNA ZNF667-AS1 Targets miR-523-3p/KIF5C Axis to Hinder Colon Cancer Progression.
      Title: LncRNA ZNF667-AS1 Targets miR-523-3p/KIF5C Axis to Hinder Colon Cancer Progression.
    2. KIF5C deficiency causes abnormal cortical neuronal migration, dendritic branching, and spine morphology in mice.
      Title: KIF5C deficiency causes abnormal cortical neuronal migration, dendritic branching, and spine morphology in mice.
    3. Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy.
      Title: Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy.
    4. Reduced miR-203 predicts metastasis and poor survival in esophageal carcinoma.
      Title: Reduced miR-203 predicts metastasis and poor survival in esophageal carcinoma.
    5. Deletion of the Pseudorabies Virus gE/gI-US9p complex disrupts kinesin KIF1A and KIF5C recruitment during egress, and alters the properties of microtubule-dependent transport in vitro.
      Title: Deletion of the Pseudorabies Virus gE/gI-US9p complex disrupts kinesin KIF1A and KIF5C recruitment during egress, and alters the properties of microtubule-dependent transport in vitro.
    6. The adaptor proteins HAP1a and GRIP1 collaborate to activate the kinesin-1 isoform KIF5C.
      Title: The adaptor proteins HAP1a and GRIP1 collaborate to activate the kinesin-1 isoform KIF5C.
    7. Findings point to a role for Kinesin-2 in the long-range movement of RAB5 endosomes during interphase. At the onset of mitosis, Kinesin-2 mediated transport controls timing of nuclear envelope breakdown and localization of RAB5 endosomes at spindle.
      Title: Kinesin-2 Controls the Motility of RAB5 Endosomes and Their Association with the Spindle in Mitosis.
    8. KIF5C mutations are associated with a neurodevelopmental disorder characterized by infantile onset epilepsy, and subtle but recognizable types of brain malformations.
      Title: Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical development.
    9. Study found that in peripheral blood mononuclear cells the median expression of KIFC3, KIF1B, and KIF5C was much lower than the expression of dynactin subunits DCTN1 and DCTN3, in both sporadic amyotrophic lateral sclerosis and healthy cases
      Title: Alteration of Motor Protein Expression Involved in Bidirectional Transport in Peripheral Blood Mononuclear Cells of Patients with Amyotrophic Lateral Sclerosis.
    10. Genetic association of KIF4A and KIF5C mutations in intellectual disability and synaptic function.
      Title: Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.
    Submit: New GeneRIF Correction See all GeneRIFs (15)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Complex cortical dysplasia with other brain malformations 2
    MedGen: C3809013 OMIM: 615282 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ44735, KIAA0531, MGC111478

    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 apolipoprotein receptor binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables microtubule motor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    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 axonal protein transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in anterograde dendritic transport of messenger ribonucleoprotein complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in anterograde dendritic transport of neurotransmitter receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in axon guidance IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular mRNA localization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in motor neuron axon guidance IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in organelle organization TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in synaptic vesicle transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in GABA-ergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in axonal growth cone ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in ciliary rootlet IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in dendrite cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in distal axon ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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
    		  
    located_in neuronal cell body ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in postsynaptic cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    kinesin heavy chain isoform 5C; kinesin heavy chain
    Names
    kinesin heavy chain neuron-specific 2
    kinesin-1
    neuron-specific kinesin heavy chain 2

    NCBI Reference Sequences (RefSeq)

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    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_042216.1 RefSeqGene

      Range
      5005..156537
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004522.3 → NP_004513.1  kinesin heavy chain isoform 5C

      See identical proteins and their annotated locations for NP_004513.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the supported protein.
      Source sequence(s)
      AB011103, AB209191, AW162840, DA085551
      Consensus CDS
      CCDS74586.1
      UniProtKB/Swiss-Prot
      O60282, O95079, Q2YDC5
      UniProtKB/TrEMBL
      A0A7I2V492
      Related
      ENSP00000393379.1, ENST00000435030.6
      Conserved Domains (3) summary
      COG1196
      Location:460 → 801
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      PRK03918
      Location:715 → 916
      PRK03918; DNA double-strand break repair ATPase Rad50
      cd01369
      Location:6 → 327
      KISc_KHC_KIF5; Kinesin motor domain, kinesin heavy chain (KHC) or KIF5-like subgroup

    RNA

    1. NR_111932.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks several 5' exons but contains an alternate 5' terminal exon, and it also contains an additional exon in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AA602178, AB209191, BC110287, DA501487, HY003338
      Related
      ENST00000678636.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      148875227..149026759
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004062.2 → XP_016859551.1  kinesin heavy chain isoform X1

      UniProtKB/Swiss-Prot
      O60282, O95079, Q2YDC5
      UniProtKB/TrEMBL
      A0A7I2V492
      Conserved Domains (3) summary
      COG1196
      Location:460 → 801
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      PRK03918
      Location:715 → 916
      PRK03918; DNA double-strand break repair ATPase Rad50
      cd01369
      Location:6 → 327
      KISc_KHC_KIF5; Kinesin motor domain, kinesin heavy chain (KHC) or KIF5-like subgroup

    2. XM_011511157.3 → XP_011509459.1  kinesin heavy chain isoform X2

      See identical proteins and their annotated locations for XP_011509459.1

      UniProtKB/TrEMBL
      Q57Z91
      Related
      ENSP00000504291.1, ENST00000679129.1
      Conserved Domains (1) summary
      cl22853
      Location:7 → 95
      Motor_domain; Myosin and Kinesin motor domain

    3. XM_047444258.1 → XP_047300214.1  kinesin heavy chain isoform X2

      UniProtKB/TrEMBL
      Q57Z91
      Related
      ENSP00000503401.1, ENST00000676677.1

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003571033.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      3214..96131
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      149325585..149477131
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341957.1 → XP_054197932.1  kinesin heavy chain isoform X1

      UniProtKB/Swiss-Prot
      O60282, O95079, Q2YDC5
      UniProtKB/TrEMBL
      A0A7I2V492

    2. XM_054341958.1 → XP_054197933.1  kinesin heavy chain isoform X2

      UniProtKB/TrEMBL
      Q57Z91

    3. XM_054341959.1 → XP_054197934.1  kinesin heavy chain isoform X2

      UniProtKB/TrEMBL
      Q57Z91
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60282.1 GenPept UniProtKB/Swiss-Prot:O60282

    Gene LinkOut

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