KLC1 kinesin light chain 1 [Homo sapiens] - Gene

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Summary

Official Symbol: KLC1provided by HGNC
Official Full Name: kinesin light chain 1provided by HGNC
Primary source: HGNC:6387
See related: Ensembl:ENSG00000126214; Ensembl:ENSG00000256500; HPRD:02489; MIM:600025; Vega:OTTHUMG00000169226; Vega:OTTHUMG00000169227
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: KLC; KNS2; KNS2A
Summary: 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]

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Genomic context

Location :: 14q32.3

Sequence :: Chromosome: 14; NC_000014.8 (104095525..104167888)

See KLC1 in Epigenomics, MapViewer

Chromosome 14 - NC_000014.8 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Phosphorylation of KLC1 at serine 460 modulates binding and trafficking of calsyntenin-1.
Title: Phosphorylation of kinesin light chain 1 at serine 460 modulates binding and trafficking of calsyntenin-1.
Results do not convincingly support kinesin light chain 1 (KLC1) as a major susceptibility gene in any of the studied diseases, although there is a small effect of KLC1 in relation to cataract.
Title: Kinesin light chain 1 gene haplotypes in three conformational diseases.
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 and meta-analysis of gene-disease association. (HuGE Navigator)
Title: Single-nucleotide polymorphisms in DNA-repair genes and cutaneous melanoma.
The rs8702 variant of the kinesin light chain 1 genotype proved to exert strong amplifying effects on the occurrence and severity of leukoaraiosis in patients with long-lasting poorly controlled severe hypertension
Title: 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.
The KLC1 56836CC variant exerts a significant protective effect on the occurrence of multiple sclerosis.
Title: 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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
The present finding supports the involvement of the cytoskeleton and KNS2 in the development of vascular white matter damage, thereby opening up novel fields in the research into leukariois.
Title: Evaluation of the roles of the A185C and C406T kinesin light-chain 1 variants in the development of leukoaraiosis.
microtubule-dependent functions of von Hippel-Lindau tumour suppressor are influenced by kinesin-2
Title: The von Hippel-Lindau tumour suppressor interacts with microtubules through kinesin-2.
KNS2 gene may play a role during early stages of Alzheimer's disease pathogenesis.
Title: Kinesin gene variability may affect tau phosphorylation in early Alzheimer's disease.

Submit: New GeneRIF Correction See all (13)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
Q07866	P05067	APP	HPRD	PubMed
Q07866	O94985	CLSTN1	HPRD	PubMed
Q07866	O00139	KIF2A	HPRD	PubMed
Q07866	Q07866	KLC1	HPRD	PubMed
Q07866	Q9H0B6	KLC2	HPRD	PubMed
Q07866	Q6UWE0	LRSAM1	HPRD	PubMed
Q07866	Q9UQF2	MAPK8IP1	HPRD	PubMed
Q07866	Q13387	MAPK8IP2	HPRD	PubMed
Q07866	Q9UPT6	MAPK8IP3	HPRD	PubMed
Q07866	Q14990	ODF1	HPRD	PubMed
Q07866	Pleckstrin homology domain containing, family M (with RUN domain) member 2	PLEKHM2	HPRD	PubMed
Q07866	O60271	SPAG9	HPRD	PubMed
Q07866	P31946	YWHAB	HPRD	PubMed
BioGRID:110029	BioGRID:106848	APP	BioGRID	PubMed	Reconstituted Complex
BioGRID:110029	BioGRID:109999	KIF5A	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110029	BioGRID:110000	KIF5B	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110029	BioGRID:110001	KIF5C	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110029	BioGRID:124754	LRSAM1	BioGRID	PubMed	Two-hybrid
BioGRID:110029	BioGRID:111583	MAPK6	BioGRID	PubMed	Two-hybrid
BioGRID:110029	BioGRID:116774	MAPK8IP3	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:110029	BioGRID:109072	SFN	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110029	BioGRID:113361	YWHAB	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110029	BioGRID:113364	YWHAG	BioGRID	PubMed	Affinity Capture-MS
BioGRID:110029	BioGRID:113366	YWHAZ	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
microtubule motor activity	IEA Inferred from Electronic Annotation more info
motor activity	TAS Traceable Author Statement more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
blood coagulation	TAS Traceable Author Statement more info
microtubule-based movement	TAS Traceable Author Statement more info
stress granule disassembly	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
cytoplasm	IEA Inferred from Electronic Annotation more info
cytoskeleton	IEA Inferred from Electronic Annotation more info
cytosol	ISS Inferred from Sequence or Structural Similarity more info
cytosol	TAS Traceable Author Statement more info
kinesin complex	ISS Inferred from Sequence or Structural Similarity more info
microtubule	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: kinesin light chain 1

Names: kinesin light chain 1; KLC 1; kinesin 2 60/70kDa; medulloblastoma antigen MU-MB-2.50

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NCBI Reference Sequences (RefSeq)

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

NG_012307.1 RefSeqGene

Range

5001..77364

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001130107.1 → NP_001123579.1 kinesin light chain 1 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) encodes isoform 3, also known as D.

Source sequence(s)

BC008881, BK001163, BK001164, BM988840, BP274336

Consensus CDS

CCDS45168.1

UniProtKB/TrEMBL

F8VTM4

UniProtKB/Swiss-Prot

Q07866

UniProtKB/TrEMBL

Q7RTQ2

UniProtKB/TrEMBL

Q7RTQ3

Related

ENSP00000414982, OTTHUMP00000240457, ENST00000452929, OTTHUMT00000402950

Conserved Domains (4) summary

cd00189
Location:307 – 408
Blast Score: 99

TPR; Tetratricopeptide repeat domain; typically contains 34 amino acids [WLF]-X(2)-[LIM]-[GAS]-X(2)-[YLF]-X(8)-[ASE]-X(3)-[FYL]-X(2)-[ASL]-X(4)-[PKE] is the consensus sequence; found in a variety of organisms including bacteria, cyanobacteria, yeast, fungi, ...

pfam09311
Location:80 – 254
Blast Score: 490

Rab5-bind; Rabaptin-like protein

pfam13374
Location:463 – 496
Blast Score: 96

TPR_10; Tetratricopeptide repeat

pfam13424
Location:335 – 413
Blast Score: 141

TPR_12; Tetratricopeptide repeat
NM_005552.4 → NP_005543.2 kinesin light chain 1 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) has an alternate 3' sequence, as compared to variant 3. The resulting isoform (1, also known as C) has a shorter and distinct C-terminus, as compared to isoform 3.

Source sequence(s)

AL049840, BC008881, BP274336, CB050619, DA501532

Consensus CDS

CCDS32165.1

UniProtKB/Swiss-Prot

Q07866

Related

ENSP00000374394, OTTHUMP00000240452, ENST00000389744, OTTHUMT00000402945

Conserved Domains (4) summary

cd00189
Location:307 – 408
Blast Score: 94

TPR; Tetratricopeptide repeat domain; typically contains 34 amino acids [WLF]-X(2)-[LIM]-[GAS]-X(2)-[YLF]-X(8)-[ASE]-X(3)-[FYL]-X(2)-[ASL]-X(4)-[PKE] is the consensus sequence; found in a variety of organisms including bacteria, cyanobacteria, yeast, fungi, ...

pfam09311
Location:80 – 254
Blast Score: 485

Rab5-bind; Rabaptin-like protein

pfam13374
Location:463 – 496
Blast Score: 95

TPR_10; Tetratricopeptide repeat

pfam13424
Location:335 – 413
Blast Score: 139

TPR_12; Tetratricopeptide repeat
NM_182923.3 → NP_891553.2 kinesin light chain 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks a coding exon in the 3' region, as compared to variant 3. The resulting isoform (2, also known as H) has a shorter and distinct C-terminus when compared to isoform 3.

Source sequence(s)

AL139300, BM988840, BP274336, L04733

Consensus CDS

CCDS41996.1

UniProtKB/Swiss-Prot

Q07866

Related

ENSP00000341154, OTTHUMP00000240454, ENST00000348520, OTTHUMT00000402947

Conserved Domains (4) summary

cd00189
Location:307 – 408
Blast Score: 97

TPR; Tetratricopeptide repeat domain; typically contains 34 amino acids [WLF]-X(2)-[LIM]-[GAS]-X(2)-[YLF]-X(8)-[ASE]-X(3)-[FYL]-X(2)-[ASL]-X(4)-[PKE] is the consensus sequence; found in a variety of organisms including bacteria, cyanobacteria, yeast, fungi, ...

pfam09311
Location:80 – 254
Blast Score: 484

Rab5-bind; Rabaptin-like protein

pfam13374
Location:463 – 496
Blast Score: 96

TPR_10; Tetratricopeptide repeat

pfam13424
Location:335 – 413
Blast Score: 140

TPR_12; Tetratricopeptide repeat

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000014.8 Reference GRCh37.p5 Primary Assembly

Range

104095525..104167888

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000146.1 Alternate HuRef

Range

84274406..84346180

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AF267530.1	AAF72543.1
genomic	AL049840.8 (145253..165470)	None
genomic	AL139300.6	None
genomic	CH471061.1	EAW81832.1
		EAW81833.1
		EAW81834.1
		EAW81835.1
genomic	X69658.1	CAA49349.1
mRNA	AB451299.1	BAG70113.1
mRNA	AB451431.1	BAG70245.1
mRNA	AF527736.1	AAP85635.1
mRNA	AK294508.1	BAG57724.1
mRNA	AL133587.1	None
mRNA	AY180163.1	AAO62548.1
mRNA	AY180164.2	AAO62549.1
mRNA	AY180165.3	AAO62550.1
mRNA	AY180166.1	AAO62551.1
mRNA	AY180167.1	AAO62552.1
mRNA	AY180168.1	AAO62553.1
mRNA	AY180169.2	AAO62554.1
mRNA	AY180170.1	AAO62555.1
mRNA	AY244715.5	AAO64641.1
mRNA	BC008881.2	AAH08881.1
mRNA	BK000678.1	DAA01262.1
mRNA	BK000679.1	DAA01263.1
mRNA	BK000680.1	DAA01264.1
mRNA	BK000681.1	DAA01265.1
mRNA	BK000682.1	DAA01266.1
mRNA	BK000683.1	DAA01267.1
mRNA	BK000684.1	DAA01268.1
mRNA	BK001163.1	DAA01289.1
mRNA	BK001164.1	DAA01290.1
mRNA	BK001165.2	DAA01291.1
mRNA	BK001166.1	DAA01292.1
mRNA	BK001167.2	DAA01293.1
mRNA	BK001168.1	DAA01294.1
mRNA	BK001169.1	DAA01295.1
mRNA	BK001170.1	DAA01296.1
mRNA	BK001171.2	DAA01297.1
mRNA	BK001172.1	DAA01298.1
mRNA	BM988840.1	None
mRNA	BP274336.1	None
mRNA	BP396130.1	None
mRNA	BQ002171.1	None
mRNA	CA433051.1	None
mRNA	CB050619.1	None
mRNA	DA501532.1	None
mRNA	L04733.1	AAA16576.1
other-genetic	DQ893256.2	ABM84182.1
other-genetic	DQ896585.2	ABM87584.1

Protein Accession	Links
Protein Accession	GenePept Link	UniProtKB Link
Q07866.2	GenPept	UniProtKB/Swiss-Prot:Q07866
Q13865	GenPept	UniProtKB/TrEMBL:Q13865
Q7RTP8	GenPept	UniProtKB/TrEMBL:Q7RTP8
Q7RTQ0	GenPept	UniProtKB/TrEMBL:Q7RTQ0
Q7RTQ1	GenPept	UniProtKB/TrEMBL:Q7RTQ1
Q7RTQ2	GenPept	UniProtKB/TrEMBL:Q7RTQ2
Q7RTQ3	GenPept	UniProtKB/TrEMBL:Q7RTQ3
Q7RTQ4	GenPept	UniProtKB/TrEMBL:Q7RTQ4
Q7RTQ7	GenPept	UniProtKB/TrEMBL:Q7RTQ7
Q7RTQ8	GenPept	UniProtKB/TrEMBL:Q7RTQ8
Q7RTQ9	GenPept	UniProtKB/TrEMBL:Q7RTQ9
Q7Z5D5	GenPept	UniProtKB/TrEMBL:Q7Z5D5