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Protein

Kinesin light chain 2

Gene

KLC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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 (By similarity).By similarity

GO - Molecular functioni

  • cadherin binding Source: BHF-UCL
  • kinesin binding Source: BHF-UCL
  • microtubule motor activity Source: InterPro

GO - Biological processi

Keywordsi

Molecular functionMotor protein

Enzyme and pathway databases

ReactomeiR-HSA-2132295. MHC class II antigen presentation.
R-HSA-5625970. RHO GTPases activate KTN1.
R-HSA-6811434. COPI-dependent Golgi-to-ER retrograde traffic.
R-HSA-983189. Kinesins.
SIGNORiQ9H0B6.

Names & Taxonomyi

Protein namesi
Recommended name:
Kinesin light chain 2
Short name:
KLC 2
Gene namesi
Name:KLC2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000174996.11.
HGNCiHGNC:20716. KLC2.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Microtubule

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia, optic atrophy, and neuropathy (SPOAN)1 Publication
The gene represented in this entry is involved in disease pathogenesis. The disease is caused by a homozygous deletion in the non-coding region of the KLC2 gene.1 Publication
Disease descriptionA form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPOAN is characterized by spastic paraplegia with progressive joint contractures and spine deformities, loss of independent ambulation by age 10 years, sub-normal vision secondary to congenital optic atrophy, and neuropathy. Inheritance is autosomal recessive.
See also OMIM:609541

Keywords - Diseasei

Hereditary spastic paraplegia, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNETi64837.
MalaCardsiKLC2.
MIMi609541. phenotype.
OpenTargetsiENSG00000174996.
PharmGKBiPA142671587.

Polymorphism and mutation databases

BioMutaiKLC2.
DMDMi13878553.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002150951 – 622Kinesin light chain 2Add BLAST622

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei151PhosphoserineCombined sources1
Modified residuei175PhosphoserineBy similarity1
Modified residuei179PhosphoserineBy similarity1
Modified residuei445PhosphoserineCombined sources1
Modified residuei508PhosphoserineBy similarity1
Modified residuei521PhosphoserineCombined sources1
Modified residuei556PhosphoserineBy similarity1
Modified residuei557PhosphoserineBy similarity1
Modified residuei581PhosphoserineCombined sources1
Modified residuei582PhosphoserineCombined sources1
Modified residuei589PhosphoserineCombined sources1
Modified residuei608PhosphoserineCombined sources1
Modified residuei610PhosphoserineCombined sources1
Modified residuei615PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9H0B6.
MaxQBiQ9H0B6.
PaxDbiQ9H0B6.
PeptideAtlasiQ9H0B6.
PRIDEiQ9H0B6.

PTM databases

iPTMnetiQ9H0B6.
PhosphoSitePlusiQ9H0B6.

Expressioni

Gene expression databases

BgeeiENSG00000174996.
CleanExiHS_KLC2.
ExpressionAtlasiQ9H0B6. baseline and differential.
GenevisibleiQ9H0B6. HS.

Organism-specific databases

HPAiHPA040416.
HPA040434.

Interactioni

Subunit structurei

Oligomeric complex composed of two heavy chains and two light chains.By similarity

Binary interactionsi

Show more details

GO - Molecular functioni

  • cadherin binding Source: BHF-UCL
  • kinesin binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi122313. 78 interactors.
DIPiDIP-40381N.
ELMiQ9H0B6.
IntActiQ9H0B6. 42 interactors.
MINTiMINT-1401363.
STRINGi9606.ENSP00000314837.

Structurei

Secondary structure

1622
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi217 – 232Combined sources16
Beta strandi234 – 236Combined sources3
Helixi237 – 252Combined sources16
Helixi256 – 273Combined sources18
Helixi279 – 293Combined sources15
Turni294 – 296Combined sources3
Helixi298 – 316Combined sources19
Helixi321 – 335Combined sources15
Turni336 – 338Combined sources3
Helixi340 – 357Combined sources18
Helixi363 – 379Combined sources17
Helixi382 – 400Combined sources19
Beta strandi401 – 403Combined sources3
Helixi411 – 420Combined sources10
Beta strandi427 – 429Combined sources3
Beta strandi431 – 433Combined sources3
Helixi446 – 461Combined sources16
Helixi465 – 476Combined sources12

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3CEQX-ray2.75A/B217-480[»]
3EDTX-ray2.70B/D/F/H217-480[»]
ProteinModelPortaliQ9H0B6.
SMRiQ9H0B6.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9H0B6.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati198 – 231TPR 1Add BLAST34
Repeati240 – 273TPR 2Add BLAST34
Repeati282 – 315TPR 3Add BLAST34
Repeati324 – 357TPR 4Add BLAST34
Repeati366 – 399TPR 5Add BLAST34
Repeati449 – 482TPR 6Add BLAST34

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili78 – 143Sequence analysisAdd BLAST66

Sequence similaritiesi

Belongs to the kinesin light chain family.Curated

Keywords - Domaini

Coiled coil, Repeat, TPR repeat

Phylogenomic databases

eggNOGiKOG1840. Eukaryota.
COG0457. LUCA.
GeneTreeiENSGT00390000006393.
HOGENOMiHOG000261663.
HOVERGENiHBG006217.
InParanoidiQ9H0B6.
KOiK10407.
OMAiGPQEPRN.
OrthoDBiEOG091G05DM.
PhylomeDBiQ9H0B6.
TreeFamiTF314010.

Family and domain databases

Gene3Di1.10.10.10. 5 hits.
InterProiView protein in InterPro
IPR002151. Kinesin_light.
IPR015792. Kinesin_light_repeat.
IPR013026. TPR-contain_dom.
IPR011990. TPR-like_helical_dom.
IPR019734. TPR_repeat.
IPR011991. WHTH_DNA-bd_dom.
PRINTSiPR00381. KINESINLIGHT.
SMARTiView protein in SMART
SM00028. TPR. 4 hits.
SUPFAMiSSF48452. SSF48452. 3 hits.
PROSITEiView protein in PROSITE
PS01160. KINESIN_LIGHT. 2 hits.
PS50005. TPR. 5 hits.
PS50293. TPR_REGION. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H0B6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAMMVFPREE KLSQDEIVLG TKAVIQGLET LRGEHRALLA PLVAPEAGEA
60 70 80 90 100
EPGSQERCIL LRRSLEAIEL GLGEAQVILA LSSHLGAVES EKQKLRAQVR
110 120 130 140 150
RLVQENQWLR EELAGTQQKL QRSEQAVAQL EEEKQHLLFM SQIRKLDEDA
160 170 180 190 200
SPNEEKGDVP KDTLDDLFPN EDEQSPAPSP GGGDVSGQHG GYEIPARLRT
210 220 230 240 250
LHNLVIQYAS QGRYEVAVPL CKQALEDLEK TSGHDHPDVA TMLNILALVY
260 270 280 290 300
RDQNKYKEAA HLLNDALAIR EKTLGKDHPA VAATLNNLAV LYGKRGKYKE
310 320 330 340 350
AEPLCKRALE IREKVLGKFH PDVAKQLSNL ALLCQNQGKA EEVEYYYRRA
360 370 380 390 400
LEIYATRLGP DDPNVAKTKN NLASCYLKQG KYQDAETLYK EILTRAHEKE
410 420 430 440 450
FGSVNGDNKP IWMHAEEREE SKDKRRDSAP YGEYGSWYKA CKVDSPTVNT
460 470 480 490 500
TLRSLGALYR RQGKLEAAHT LEDCASRNRK QGLDPASQTK VVELLKDGSG
510 520 530 540 550
RRGDRRSSRD MAGGAGPRSE SDLEDVGPTA EWNGDGSGSL RRSGSFGKLR
560 570 580 590 600
DALRRSSEML VKKLQGGTPQ EPPNPRMKRA SSLNFLNKSV EEPTQPGGTG
610 620
LSDSRTLSSS SMDLSRRSSL VG
Length:622
Mass (Da):68,935
Last modified:March 1, 2001 - v1
Checksum:i5B57ABE4DF6E396E
GO
Isoform 2 (identifier: Q9H0B6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     77-153: Missing.

Note: No experimental confirmation available.
Show »
Length:545
Mass (Da):60,047
Checksum:iB30B27FA163B5D47
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti6F → Y in BAB14302 (PubMed:14702039).Curated1
Sequence conflicti306K → R in BAB14039 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_020379517P → S. Corresponds to variant dbSNP:rs2276036Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04348677 – 153Missing in isoform 2. 1 PublicationAdd BLAST77

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136864 mRNA. Translation: CAB66798.1.
AK022449 mRNA. Translation: BAB14039.1.
AK022907 mRNA. Translation: BAB14302.1.
AK094593 mRNA. Translation: BAG52895.1.
AK315725 mRNA. Translation: BAG38081.1.
AP000759 Genomic DNA. No translation available.
AP001107 Genomic DNA. No translation available.
BC034373 mRNA. Translation: AAH34373.1.
CCDSiCCDS44653.1. [Q9H0B6-2]
CCDS8130.1. [Q9H0B6-1]
RefSeqiNP_001128246.1. NM_001134774.1. [Q9H0B6-2]
NP_001128247.1. NM_001134775.1. [Q9H0B6-1]
NP_001128248.1. NM_001134776.1. [Q9H0B6-1]
NP_001305663.1. NM_001318734.1. [Q9H0B6-1]
NP_073733.1. NM_022822.2. [Q9H0B6-1]
XP_005274240.1. XM_005274183.1. [Q9H0B6-1]
UniGeneiHs.280792.

Genome annotation databases

EnsembliENST00000316924; ENSP00000314837; ENSG00000174996. [Q9H0B6-1]
ENST00000394066; ENSP00000377630; ENSG00000174996. [Q9H0B6-2]
ENST00000394067; ENSP00000377631; ENSG00000174996. [Q9H0B6-1]
ENST00000417856; ENSP00000399403; ENSG00000174996. [Q9H0B6-1]
ENST00000421552; ENSP00000408484; ENSG00000174996. [Q9H0B6-2]
GeneIDi64837.
KEGGihsa:64837.
UCSCiuc001ohb.3. human. [Q9H0B6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiKLC2_HUMAN
AccessioniPrimary (citable) accession number: Q9H0B6
Secondary accession number(s): A8MXL7
, B2RDY4, Q9H9C8, Q9HA20
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: March 1, 2001
Last modified: September 27, 2017
This is version 165 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families