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Aliases for KLC1 Gene

Aliases for KLC1 Gene

  • Kinesin Light Chain 1 2 3 5
  • Kinesin 2 60/70kDa 2 3
  • KNS2 3 4
  • KLC 3 4
  • Medulloblastoma Antigen MU-MB-2.50 3
  • Kinesin 2 2
  • KNS2A 3
  • KLC 1 4

External Ids for KLC1 Gene

Previous HGNC Symbols for KLC1 Gene

  • KNS2

Previous GeneCards Identifiers for KLC1 Gene

  • GC14P103167
  • GC14P104030
  • GC14P104095
  • GC14P104028
  • GC14P103564
  • GC14P103565
  • GC14P103571
  • GC14P103573
  • GC14P103575

Summaries for KLC1 Gene

Entrez Gene Summary for KLC1 Gene

  • Conventional kinesin is a tetrameric molecule composed of two heavy chains and two light chains, and transports various cargos along microtubules toward their plus ends. The heavy chains provide the motor activity, while the light chains bind to various cargos. This gene encodes a member of the kinesin light chain family. It associates with kinesin heavy chain through an N-terminal domain, and six tetratricopeptide repeat (TPR) motifs are thought to be involved in binding of cargos such as vesicles, mitochondria, and the Golgi complex. Thus, kinesin light chains function as adapter molecules and not motors per se. Although previously named "kinesin 2", this gene is not a member of the kinesin-2 / kinesin heavy chain subfamily of kinesin motor proteins. Extensive alternative splicing produces isoforms with different C-termini that are proposed to bind to different cargos; however, the full-length nature and/or biological validity of most of these variants have not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for KLC1 Gene

KLC1 (Kinesin Light Chain 1) is a Protein Coding gene. Diseases associated with KLC1 include Medulloblastoma. Among its related pathways are Innate Immune System and Golgi-to-ER retrograde transport. GO annotations related to this gene include microtubule motor activity and tubulin binding. An important paralog of this gene is ENSG00000256500.

UniProtKB/Swiss-Prot for KLC1 Gene

  • Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. The light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity.

Gene Wiki entry for KLC1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLC1 Gene

Genomics for KLC1 Gene

Regulatory Elements for KLC1 Gene

Enhancers for KLC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14G103623 1.4 Ensembl ENCODE dbSUPER 21.6 +63.4 63423 3.0 KLF17 YY1 ZNF121 GLIS2 EGR1 GATA2 ZNF366 RCOR1 FOS RELB KLC1 ZFYVE21 XRCC3 APOPT1 LOC105370688 RNU4-68P
GH14G103549 1.7 FANTOM5 Ensembl ENCODE dbSUPER 17.4 -10.5 -10518 4.1 PKNOX1 ARID4B FEZF1 RAD21 THRB ZNF48 RARA SCRT2 EGR2 KAT8 CKB KLC1 ENSG00000269958 MARK3 PPP1R13B GC14P103554 ENSG00000258851
GH14G103627 1.4 ENCODE dbSUPER 19.5 +67.2 67240 3.9 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 ZNF143 KLC1 XRCC3 ZFYVE21 BAG5 APOPT1 LOC105370688 RNU4-68P
GH14G103538 1.4 Ensembl ENCODE dbSUPER 19 -19.6 -19559 7.1 PKNOX1 FOXA2 NFIB MLX AGO1 ZSCAN4 KLF17 SIN3A YBX1 RAD21 MARK3 CKB KLC1 ENSG00000269958 APOPT1 RNU7-160P TRMT61A
GH14G103593 1.1 Ensembl ENCODE 22.9 +32.6 32634 2.5 ELF3 HDGF PKNOX1 ARID4B ETV6 IKZF2 CREM JUNB TBX21 SMARCA4 KLC1 ENSG00000246451 ZFYVE21 XRCC3 APOPT1 ENSG00000269958 RNU4-68P LOC105370688
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KLC1 on UCSC Golden Path with GeneCards custom track

Promoters for KLC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000073580 804 2601 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ZNF207 ZNF143 FOS

Genomic Location for KLC1 Gene

Chromosome:
14
Start:
103,561,896 bp from pter
End:
103,714,249 bp from pter
Size:
152,354 bases
Orientation:
Plus strand

Genomic View for KLC1 Gene

Genes around KLC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLC1 Gene

Proteins for KLC1 Gene

  • Protein details for KLC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q07866-KLC1_HUMAN
    Recommended name:
    Kinesin light chain 1
    Protein Accession:
    Q07866
    Secondary Accessions:
    • A6NF62
    • F8VTM4
    • Q7RTM2
    • Q7RTM3
    • Q7RTM5
    • Q7RTP9
    • Q7RTQ3
    • Q7RTQ5
    • Q7RTQ6
    • Q86SF5
    • Q86TF5
    • Q86V74
    • Q86V75
    • Q86V76
    • Q86V77
    • Q86V78
    • Q86V79
    • Q96H62

    Protein attributes for KLC1 Gene

    Size:
    573 amino acids
    Molecular mass:
    65310 Da
    Quaternary structure:
    • Oligomeric complex composed of two heavy chains and two light chains. Interacts with SPAG9. Interacts with ATCAY; may link mitochondria to KLC1 and regulate mitochondria localization into neuron projections. Interacts (via TPR repeats) with TOR1A; the interaction associates TOR1A with the kinesin oligomeric complex. Interacts with BORCS5 (PubMed:25898167).
    • (Microbial infection) Interacts with adenovirus hexon-interlacing protein; this interaction leads to capsid disruption at the nuclear pore complex during virus entry into host cell.
    SequenceCaution:
    • Sequence=AAA16576.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAF72543.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAO62549.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=DAA01265.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=DAA01266.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=DAA01268.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=DAA01289.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=DAA01291.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=DAA01292.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=DAA01295.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=DAA01296.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=DAA01297.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KLC1 Gene

    Alternative splice isoforms for KLC1 Gene

neXtProt entry for KLC1 Gene

Post-translational modifications for KLC1 Gene

  • Isoform I is phosphorylated on Ser-600. Isoform J is phosphorylated on Ser-631.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KLC1 Gene

Domains & Families for KLC1 Gene

Gene Families for KLC1 Gene

Graphical View of Domain Structure for InterPro Entry

Q07866

UniProtKB/Swiss-Prot:

KLC1_HUMAN :
  • Belongs to the kinesin light chain family.
Family:
  • Belongs to the kinesin light chain family.
genes like me logo Genes that share domains with KLC1: view

Function for KLC1 Gene

Molecular function for KLC1 Gene

UniProtKB/Swiss-Prot Function:
Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. The light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity.

Gene Ontology (GO) - Molecular Function for KLC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity TAS 8786116
GO:0003777 microtubule motor activity IEA --
GO:0005515 protein binding IPI 11238452
GO:0015631 tubulin binding IEA --
genes like me logo Genes that share ontologies with KLC1: view
genes like me logo Genes that share phenotypes with KLC1: view

Animal Models for KLC1 Gene

MGI Knock Outs for KLC1:

Animal Model Products

CRISPR Products

miRNA for KLC1 Gene

miRTarBase miRNAs that target KLC1

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for KLC1
  • Applied Biological Materials Clones for KLC1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KLC1 Gene

Localization for KLC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLC1 Gene

Cell projection, growth cone. Cytoplasmic vesicle. Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KLC1 gene
Compartment Confidence
cytoskeleton 4
cytosol 4
nucleus 2
golgi apparatus 2
endosome 1

Gene Ontology (GO) - Cellular Components for KLC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005871 kinesin complex IEA,ISS --
GO:0005874 microtubule IEA --
genes like me logo Genes that share ontologies with KLC1: view

Pathways & Interactions for KLC1 Gene

genes like me logo Genes that share pathways with KLC1: view

Pathways by source for KLC1 Gene

SIGNOR curated interactions for KLC1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for KLC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IEA --
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER TAS --
GO:0007018 microtubule-based movement TAS --
GO:0016032 viral process IEA --
GO:0019886 antigen processing and presentation of exogenous peptide antigen via MHC class II TAS --
genes like me logo Genes that share ontologies with KLC1: view

Drugs & Compounds for KLC1 Gene

(3) Drugs for KLC1 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fluorouracil Approved Pharma RNA processing inhibitor and thymidylate synthase inhibitor 1856
Irinotecan Approved, Investigational Pharma Topoisomerase I inhibitor, TOPO I inhibitor, Topoisomerase 1 Inhibitors 1123
leucovorin Approved Nutra 3235,1128
genes like me logo Genes that share compounds with KLC1: view

Transcripts for KLC1 Gene

Unigene Clusters for KLC1 Gene

Kinesin light chain 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for KLC1
  • Applied Biological Materials Clones for KLC1

Alternative Splicing Database (ASD) splice patterns (SP) for KLC1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b ^ 15a · 15b · 15c · 15d · 15e ^ 16a ·
SP1: - - - - - - - -
SP2: - -
SP3: - - -
SP4: - - - - - - - - - -
SP5: - - - - - - - - -
SP6: - - - - - - - - - -
SP7: - - - -
SP8: -
SP9: - - -
SP10: - - - - - - - -
SP11: - -
SP12:
SP13: -

ExUns: 16b ^ 17 ^ 18a · 18b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for KLC1 Gene

GeneLoc Exon Structure for
KLC1
ECgene alternative splicing isoforms for
KLC1

Expression for KLC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KLC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for KLC1 Gene

This gene is overexpressed in Fetal Brain (13.3), Peripheral blood mononuclear cells (8.2), and Spinal cord (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KLC1 Gene



Protein tissue co-expression partners for KLC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KLC1 Gene:

KLC1

SOURCE GeneReport for Unigene cluster for KLC1 Gene:

Hs.20107

mRNA Expression by UniProt/SwissProt for KLC1 Gene:

Q07866-KLC1_HUMAN
Tissue specificity: Found in a variety of tissues. Mostly abundant in brain and spine.

Evidence on tissue expression from TISSUES for KLC1 Gene

  • Nervous system(5)
  • Liver(4.3)
  • Eye(3.3)
  • Lung(2.6)
  • Kidney(2.2)
  • Skin(2)
genes like me logo Genes that share expression patterns with KLC1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for KLC1 Gene

Orthologs for KLC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for KLC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KLC1 34
  • 98.79 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 93 (a)
OneToMany
KLC1 34
  • 92.12 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 93 (a)
OneToMany
cow
(Bos Taurus)
Mammalia KLC1 34 35
  • 90.47 (n)
mouse
(Mus musculus)
Mammalia Klc1 34 16 35
  • 86.8 (n)
rat
(Rattus norvegicus)
Mammalia Klc1 34
  • 86.73 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 52 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 35
  • 95 (a)
OneToMany
KLC1 34
  • 84.41 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 72 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia klc1 34
  • 82.46 (n)
Str.3663 34
African clawed frog
(Xenopus laevis)
Amphibia kns2-prov 34
zebrafish
(Danio rerio)
Actinopterygii klc1a 34 35
  • 75.5 (n)
zgc66299 34
fruit fly
(Drosophila melanogaster)
Insecta Klc 34 35
  • 65.92 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010258 34
  • 63.04 (n)
worm
(Caenorhabditis elegans)
Secernentea klc-2 34 35
  • 61.98 (n)
klc-1 35
  • 43 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 66 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.705 34
Species where no ortholog for KLC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KLC1 Gene

ENSEMBL:
Gene Tree for KLC1 (if available)
TreeFam:
Gene Tree for KLC1 (if available)

Paralogs for KLC1 Gene

Variants for KLC1 Gene

Sequence variations from dbSNP and Humsavar for KLC1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs861539 other 103,699,416(-) GGCCA(C/T)GCTGC intron-variant, reference, missense
rs1000007370 -- 103,652,555(+) GGCGC(A/G)ATCTC intron-variant
rs1000105326 -- 103,698,087(+) GCCTG(C/T)GCTCC intron-variant, utr-variant-3-prime
rs1000173903 -- 103,697,623(+) GCATC(C/T)ATTGA intron-variant, utr-variant-3-prime
rs1000256803 -- 103,675,323(+) CCATC(A/T)CAAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KLC1 Gene

Variant ID Type Subtype PubMed ID
esv2001728 CNV deletion 18987734
esv2543794 CNV deletion 19546169
esv2663768 CNV deletion 23128226
esv2749175 CNV deletion 23290073
esv2760013 CNV loss 17122850
esv3635603 CNV gain 21293372
esv3635604 CNV loss 21293372
nsv1054574 CNV loss 25217958
nsv1138334 CNV deletion 24896259
nsv1138335 CNV deletion 24896259
nsv470673 CNV loss 18288195
nsv472552 CNV novel sequence insertion 20440878
nsv527425 CNV loss 19592680
nsv566023 CNV loss 21841781
nsv832883 CNV loss 17160897
nsv952260 CNV deletion 24416366

Variation tolerance for KLC1 Gene

Residual Variation Intolerance Score: 10.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.18; 23.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KLC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLC1 Gene

Disorders for KLC1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KLC1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
medulloblastoma
  • medulloblastoma, desmoplastic
- elite association - COSMIC cancer census association via MalaCards
Search KLC1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for KLC1

Genetic Association Database (GAD)
KLC1
Human Genome Epidemiology (HuGE) Navigator
KLC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KLC1
genes like me logo Genes that share disorders with KLC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KLC1 Gene

Publications for KLC1 Gene

  1. Gene-environmental effects behind leukoaraiosis: a silent genetic variant of the kinesin protein can be activated in a subject with poorly controlled long-lasting hypertension. (PMID: 19046961) Szolnoki Z. … Somogyvari F. (Clin. Biochem. 2009) 3 22 46 64
  2. Evaluation of the genetic variants of kinesin motor protein in ischemic stroke. (PMID: 19717019) Szolnoki Z. … Somogyvari F. (J Stroke Cerebrovasc Dis 2009) 3 22 46 64
  3. A genetic variant in cytoskeleton motors amplifies susceptibility to leukoaraiosis in hypertensive smokers: gene-environmental interactions behind vascular white matter demyelinization. (PMID: 17917076) Szolnoki Z. … Somogyvari F. (J. Mol. Neurosci. 2007) 3 22 46 64
  4. Evaluation of the roles of the A185C and C406T kinesin light-chain 1 variants in the development of leukoaraiosis. (PMID: 17977659) Szolnoki Z. … Somogyvari F. (Neurosci. Lett. 2007) 3 22 46 64
  5. A cytoskeleton motor protein genetic variant may exert a protective effect on the occurrence of multiple sclerosis: the janus face of the kinesin light-chain 1 56836CC genetic variant. (PMID: 17999208) Szolnoki Z. … Somogyvari F. (Neuromolecular Med. 2007) 3 22 46 64

Products for KLC1 Gene

  • Addgene plasmids for KLC1

Sources for KLC1 Gene

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