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    KLC4 kinesin light chain 4 [ Homo sapiens (human) ]

    Gene ID: 89953, updated on 10-Dec-2024

    Summary

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    Official Symbol
    KLC4provided by HGNC
    Official Full Name
    kinesin light chain 4provided by HGNC
    Primary source
    HGNC:HGNC:21624
    See related
    Ensembl:ENSG00000137171 MIM:620909; AllianceGenome:HGNC:21624
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KNSL8; bA387M24.3
    Summary
    Predicted to enable kinesin binding activity. Predicted to be involved in microtubule-based movement. Predicted to be located in microtubule. Predicted to be part of kinesin complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in duodenum (RPKM 24.3), small intestine (RPKM 22.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KLC4 in Genome Data Viewer
    Location:
    6p21.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (43059631..43075093)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (42888702..42903839)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (43027369..43042831)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901318 Neighboring gene RNA, 7SL, cytoplasmic 403, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr6:43013559-43013750 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43018382-43018882 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43018883-43019383 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:43019933-43020768 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17217 Neighboring gene cullin 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24587 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:43027385-43028336 Neighboring gene mitochondrial ribosomal protein L2 Neighboring gene Sharpr-MPRA regulatory region 10128 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43038920-43039420 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43043187-43043710 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17218 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:43049243-43049446 Neighboring gene KLC4 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43050481-43051047 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43051048-43051613 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:43057365-43057958 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:43057959-43058553 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:43058554-43059147 Neighboring gene protein tyrosine kinase 7 (inactive) Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24589 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24590 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24591 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:43086921-43087840 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:43087841-43088760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43099803-43100304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43100305-43100804 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24592 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:43138211-43138940 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17219 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:43139967-43140935 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24594 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43145601-43146102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43146103-43146602 Neighboring gene serum response factor

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene. Bayrakli F, et al. J Hum Genet, 2015 Dec. PMID 26423925
    2. Insight into the molecular mechanism of the multitasking kinesin-8 motor. Peters C, et al. EMBO J, 2010 Oct 20. PMID 20818331, Free PMC Article
    3. Kinesin light chain 4 as a new target for lung cancer chemoresistance via targeted inhibition of checkpoint kinases in the DNA repair network. Baek JH, et al. Cell Death Dis, 2020 May 26. PMID 32457423, Free PMC Article
    4. SETD3 reduces KLC4 expression to improve the sensitization of cervical cancer cell to radiotherapy. Li Q, et al. Biochem Biophys Res Commun, 2019 Aug 27. PMID 31235251
    5. Hereditary Spastic Paraplegia Overview. Adam MP, et al. , 1993. PMID 20301682

    See all (62) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Kinesin light chain 4 as a new target for lung cancer chemoresistance via targeted inhibition of checkpoint kinases in the DNA repair network.
      Title: Kinesin light chain 4 as a new target for lung cancer chemoresistance via targeted inhibition of checkpoint kinases in the DNA repair network.
    2. Findings indicate that SET domain protein 3 (SETD3) down-regulated the expression of kinesin light chain 4 (KLC4), contributing to the radiosensitivity of cervical cancer cells, suggesting targeting SETD3 might be a potential strategy for the clinical management of cervical cancer.
      Title: SETD3 reduces KLC4 expression to improve the sensitization of cervical cancer cell to radiotherapy.
    3. The association of a KLC4 mutation with spastic paraplegia identifies a new locus for the disease.
      Title: Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene.
    4. Data reveal aspects of the molecular mechanism of kinesin-8 motors that contribute to their unique dual motile and depolymerising functions, which are adapted to control microtubule length.
      Title: Insight into the molecular mechanism of the multitasking kinesin-8 motor.
    Submit: New GeneRIF Correction

    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

    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

    • MGC111777

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables kinesin binding 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 microtubule-based movement IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of kinesin complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    kinesin light chain 4
    Names
    kinesin-like protein 8

    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.

    mRNA and Protein(s)

    1. NM_001289034.2 → NP_001275963.1  kinesin light chain 4 isoform a

      See identical proteins and their annotated locations for NP_001275963.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 3. Variants 1, 2 and 5 encode the same isoform (a), which has a shorter N-terminus, compared to isoform b.
      Source sequence(s)
      AK056393, BC080637, BX640717
      Consensus CDS
      CCDS4883.1
      UniProtKB/Swiss-Prot
      B3KNY4, B3KPI3, B3KSQ3, B4DME9, Q66K28, Q96EG6, Q9NSK0
      Related
      ENSP00000418031.1, ENST00000479388.5
      Conserved Domains (3) summary
      TIGR02168
      Location:33 → 148
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      sd00006
      Location:295 → 323
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:294 → 368
      TPR_12; Tetratricopeptide repeat

    2. NM_001289035.2 → NP_001275964.1  kinesin light chain 4 isoform d

      See identical proteins and their annotated locations for NP_001275964.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) contains an alternate 5' terminal exon, initiates translation at a downstream start codon and lacks an alternate in-frame exon in the 5' coding region, compared to variant 3. It encodes isoform d, which is shorter than isoform b.
      Source sequence(s)
      AK297433, BC080637
      Consensus CDS
      CCDS75459.1
      UniProtKB/Swiss-Prot
      Q9NSK0
      Related
      ENSP00000395806.2, ENST00000453940.6
      Conserved Domains (2) summary
      sd00006
      Location:218 → 246
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:217 → 291
      TPR_12; Tetratricopeptide repeat

    3. NM_138343.4 → NP_612352.1  kinesin light chain 4 isoform c

      See identical proteins and their annotated locations for NP_612352.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and the 5' coding region and contains a 3' terminal exon that extends past a splice site, compared to variant 3. It encodes isoform c, which is shorter and has a distinct C-terminus, compared to isoform b.
      Source sequence(s)
      BC012357, DA782235
      Consensus CDS
      CCDS47429.1
      UniProtKB/Swiss-Prot
      Q9NSK0
      Related
      ENSP00000410358.2, ENST00000458460.6
      Conserved Domains (3) summary
      TIGR02168
      Location:33 → 148
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      sd00006
      Location:212 → 239
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:210 → 285
      TPR_12; Tetratricopeptide repeat

    4. NM_201521.3 → NP_958929.1  kinesin light chain 4 isoform a

      See identical proteins and their annotated locations for NP_958929.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 3. Variants 1, 2 and 5 encode the same isoform (a), which has a shorter N-terminus, compared to isoform b.
      Source sequence(s)
      BC080637, DA782235
      Consensus CDS
      CCDS4883.1
      UniProtKB/Swiss-Prot
      B3KNY4, B3KPI3, B3KSQ3, B4DME9, Q66K28, Q96EG6, Q9NSK0
      Related
      ENSP00000340221.5, ENST00000347162.10
      Conserved Domains (3) summary
      TIGR02168
      Location:33 → 148
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      sd00006
      Location:295 → 323
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:294 → 368
      TPR_12; Tetratricopeptide repeat

    5. NM_201522.3 → NP_958930.1  kinesin light chain 4 isoform a

      See identical proteins and their annotated locations for NP_958930.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 3. Variants 1, 2 and 5 encode the same isoform (a), which has a shorter N-terminus, compared to isoform b.
      Source sequence(s)
      AK055293, AK056393, BC080637, DA835055
      Consensus CDS
      CCDS4883.1
      UniProtKB/Swiss-Prot
      B3KNY4, B3KPI3, B3KSQ3, B4DME9, Q66K28, Q96EG6, Q9NSK0
      Related
      ENSP00000377620.2, ENST00000394056.6
      Conserved Domains (3) summary
      TIGR02168
      Location:33 → 148
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      sd00006
      Location:295 → 323
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:294 → 368
      TPR_12; Tetratricopeptide repeat

    6. NM_201523.3 → NP_958931.1  kinesin light chain 4 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) encodes the longest isoform (b).
      Source sequence(s)
      AK094102, BC080637
      Consensus CDS
      CCDS4882.1
      UniProtKB/Swiss-Prot
      Q9NSK0
      Related
      ENSP00000259708.3, ENST00000259708.7
      Conserved Domains (3) summary
      sd00006
      Location:313 → 341
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:312 → 386
      TPR_12; Tetratricopeptide repeat
      cl25732
      Location:51 → 166
      SMC_N; RecF/RecN/SMC N terminal domain

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      43059631..43075093
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      42888702..42903839
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NSK0.3 GenPept UniProtKB/Swiss-Prot:Q9NSK0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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