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

    Gene ID: 3800, updated on 28-Oct-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: HPA RNA-seq normal tissues 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
    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    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_004522.3NP_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:460801
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      PRK03918
      Location:715916
      PRK03918; DNA double-strand break repair ATPase Rad50
      cd01369
      Location:6327
      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_017004062.2XP_016859551.1  kinesin heavy chain isoform X1

      UniProtKB/Swiss-Prot
      O60282, O95079, Q2YDC5
      UniProtKB/TrEMBL
      A0A7I2V492
      Conserved Domains (3) summary
      COG1196
      Location:460801
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      PRK03918
      Location:715916
      PRK03918; DNA double-strand break repair ATPase Rad50
      cd01369
      Location:6327
      KISc_KHC_KIF5; Kinesin motor domain, kinesin heavy chain (KHC) or KIF5-like subgroup
    2. XM_011511157.3XP_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:795
      Motor_domain; Myosin and Kinesin motor domain
    3. XM_047444258.1XP_047300214.1  kinesin heavy chain isoform X2

      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_054341957.1XP_054197932.1  kinesin heavy chain isoform X1

      UniProtKB/Swiss-Prot
      O60282, O95079, Q2YDC5
    2. XM_054341958.1XP_054197933.1  kinesin heavy chain isoform X2

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