KLC3 kinesin light chain 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KLC3provided by HGNC
Official Full Name: kinesin light chain 3provided by HGNC
Primary source: HGNC:HGNC:20717
See related: Ensembl:ENSG00000104892 MIM:601334; AllianceGenome:HGNC:20717
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: KLC2; KLCt; KLC2L; KNS2B
Summary: This gene encodes a member of the kinesin light chain gene family. Kinesins are molecular motors involved in the transport of cargo along microtubules, and are composed of two kinesin heavy chain (KHC) and two kinesin light chain (KLC) molecules. KLCs are thought to typically be involved in binding cargo and regulating kinesin activity. In the rat, a protein similar to this gene product is expressed in post-meiotic spermatids, where it associates with structural components of sperm tails and mitochondria. [provided by RefSeq, Jul 2008]
Expression: Biased expression in skin (RPKM 20.7), esophagus (RPKM 4.3) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.32

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (45340750..45351519)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (48167961..48178760)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (45844008..45854777)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Microtubule-bound kinesin-1 and kinesin-3 motor domains were visualized at multiple steps in their ATPase cycles--including their nucleotide-free states--at approximately 7 A resolution using cryo-electron microscopy.
Title: Conserved mechanisms of microtubule-stimulated ADP release, ATP binding, and force generation in transport kinesins.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Rat KLC3 associates with the outer dense fibers of maturing sperm tails.
Title: Association of kinesin light chain with outer dense fibers in a microtubule-independent fashion.
Rat KHC3 associates with mitochondria in sperm tails
Title: Rat kinesin light chain 3 associates with spermatid mitochondria.
Rat KLC3 interacts with KHC and microtubules in vitro. Expressed in spleen, intestine, brain, ovary, testis. Testis expression restricted to post-meiotic spermatids.
Title: Kinesin light-chain KLC3 expression in testis is restricted to spermatids.

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

EBI GWAS Catalog

Description
Genome-wide association study reveals novel genetic determinants of DNA repair capacity in lung cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2560 (e-PCR)
- UniSTS:37928

RH103245 (e-PCR)
- UniSTS:97577

D8S2279 (e-PCR)
- UniSTS:473907

D19S728 (e-PCR)
- UniSTS:152261

RH80858 (e-PCR)
- UniSTS:83698

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables kinesin binding	IBA Inferred from Biological aspect of Ancestor more info
enables microtubule binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in axo-dendritic transport	IEA Inferred from Electronic Annotation more info
involved_in microtubule-based movement	IBA Inferred from Biological aspect of Ancestor more info
involved_in sperm mitochondrial sheath assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in spermatid development	ISS Inferred from Sequence or Structural Similarity more info
involved_in spermatogenesis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in ciliary rootlet	IEA Inferred from Electronic Annotation more info
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
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info
located_in motile cilium	IEA Inferred from Electronic Annotation more info
located_in neuron projection	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: kinesin light chain 3

Names: kinesin light chain 2

NCBI Reference Sequences (RefSeq)

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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)

NM_177417.3 → NP_803136.2 kinesin light chain 3

See identical proteins and their annotated locations for NP_803136.2

Status: REVIEWED

Source sequence(s)

AK092481, BC062998, BF569806

Consensus CDS

CCDS12660.2

UniProtKB/Swiss-Prot

A0AVM3, A2RUT6, Q6GMU2, Q6P597, Q8NAL1, Q8WWJ9

Related

ENSP00000375810.2, ENST00000391946.7

Conserved Domains (4) summary

sd00006
Location:291 → 319

TPR; TPR repeat [structural motif]

pfam00515
Location:375 → 402

TPR_1; Tetratricopeptide repeat

pfam13374
Location:290 → 331

TPR_10; Tetratricopeptide repeat

pfam13424
Location:245 → 323

TPR_12; Tetratricopeptide repeat

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

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

45340750..45351519

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

48167961..48178760

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_145275.1: Suppressed sequence

Description

NM_145275.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.