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Protein

Kinesin heavy chain isoform 5C

Gene

KIF5C

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

Functioni

Mediates dendritic trafficking of mRNAs (By similarity). Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport.By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi86 – 938ATPPROSITE-ProRule annotation

GO - Molecular functioni

  1. ATPase activity Source: GO_Central
  2. ATP binding Source: UniProtKB-KW
  3. microtubule motor activity Source: ProtInc
  4. plus-end-directed microtubule motor activity Source: GO_Central

GO - Biological processi

  1. ATP catabolic process Source: GOC
  2. axon guidance Source: GO_Central
  3. cytoskeleton-dependent intracellular transport Source: GO_Central
  4. metabolic process Source: GOC
  5. microtubule-based movement Source: GO_Central
  6. mRNA transport Source: UniProtKB
  7. organelle organization Source: ProtInc
  8. protein localization Source: GO_Central
Complete GO annotation...

Keywords - Molecular functioni

Motor protein

Keywords - Biological processi

Transport

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_15550. Insulin processing.

Names & Taxonomyi

Protein namesi
Recommended name:
Kinesin heavy chain isoform 5C
Alternative name(s):
Kinesin heavy chain neuron-specific 2
Gene namesi
Name:KIF5C
Synonyms:KIAA0531, NKHC2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:6325. KIF5C.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-KW
  2. kinesin complex Source: GO_Central
  3. microtubule Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Microtubule

Pathology & Biotechi

Involvement in diseasei

Cortical dysplasia, complex, with other brain malformations 21 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include intrauterine growth retardation, fetal akinesia, seizures, microcephaly, lack of psychomotor development, and arthrogryposis. Brain imaging shows malformations of cortical development, including polymicrogyria, gyral simplification, and thin corpus callosum.

See also OMIM:615282
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti237 – 2371E → V in CDCBM2; the mutant protein has a complete loss of ATP hydrolysis activity; colocalizes with microtubules throughout the cell but does not appear as puncta or accumulates in cortical clusters as does the wild-type protein. 1 Publication
VAR_070574

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi615282. phenotype.
PharmGKBiPA30109.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 957957Kinesin heavy chain isoform 5CPRO_0000125355Add
BLAST

Proteomic databases

MaxQBiO60282.
PaxDbiO60282.
PRIDEiO60282.

PTM databases

PhosphoSiteiO60282.

Expressioni

Tissue specificityi

Highest expression in brain, prostate and testis, and moderate expression in kidney, small intestine and ovary.

Gene expression databases

BgeeiO60282.
CleanExiHS_KIF5C.
ExpressionAtlasiO60282. baseline and differential.
GenevestigatoriO60282.

Organism-specific databases

HPAiHPA035210.

Interactioni

Subunit structurei

Oligomer composed of two heavy chains and two light chains. Interacts with GRIP1 and KLC3 (By similarity). Interacts with TRAK1.By similarity1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
CSNK2A1P684004EBI-717170,EBI-347804
CSNK2A2P197844EBI-717170,EBI-347451
RHOT1Q8IXI22EBI-717170,EBI-1396430

Protein-protein interaction databases

BioGridi110001. 21 interactions.
IntActiO60282. 8 interactions.
STRINGi9606.ENSP00000393379.

Structurei

3D structure databases

ProteinModelPortaliO60282.
SMRiO60282. Positions 2-372.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini8 – 327320Kinesin motorPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni174 – 315142Microtubule-bindingAdd
BLAST
Regioni859 – 95698GlobularAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili406 – 923518Add
BLAST

Domaini

Composed of three structural domains: a large globular N-terminal domain which is responsible for the motor activity of kinesin (it hydrolyzes ATP and binds microtubule), a central alpha-helical coiled coil domain that mediates the heavy chain dimerization; and a small globular C-terminal domain which interacts with other proteins (such as the kinesin light chains), vesicles and membranous organelles.

Sequence similaritiesi

Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesin subfamily.PROSITE-ProRule annotation
Contains 1 kinesin motor domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiCOG5059.
GeneTreeiENSGT00770000120453.
HOGENOMiHOG000216718.
HOVERGENiHBG006210.
InParanoidiO60282.
KOiK10396.
OMAiPKFKGEE.
PhylomeDBiO60282.
TreeFamiTF105225.

Family and domain databases

Gene3Di3.40.850.10. 1 hit.
InterProiIPR027640. Kinesin-like_fam.
IPR019821. Kinesin_motor_CS.
IPR001752. Kinesin_motor_dom.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR24115. PTHR24115. 1 hit.
PfamiPF00225. Kinesin. 1 hit.
[Graphical view]
PRINTSiPR00380. KINESINHEAVY.
SMARTiSM00129. KISc. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS00411. KINESIN_MOTOR_1. 1 hit.
PS50067. KINESIN_MOTOR_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O60282-1) [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
MADPAECSIK VMCRFRPLNE AEILRGDKFI PKFKGDETVV IGQGKPYVFD
60 70 80 90 100
RVLPPNTTQE QVYNACAKQI VKDVLEGYNG TIFAYGQTSS GKTHTMEGKL
110 120 130 140 150
HDPQLMGIIP RIAHDIFDHI YSMDENLEFH IKVSYFEIYL DKIRDLLDVS
160 170 180 190 200
KTNLAVHEDK NRVPYVKGCT ERFVSSPEEV MDVIDEGKAN RHVAVTNMNE
210 220 230 240 250
HSSRSHSIFL INIKQENVET EKKLSGKLYL VDLAGSEKVS KTGAEGAVLD
260 270 280 290 300
EAKNINKSLS ALGNVISALA EGTKTHVPYR DSKMTRILQD SLGGNCRTTI
310 320 330 340 350
VICCSPSVFN EAETKSTLMF GQRAKTIKNT VSVNLELTAE EWKKKYEKEK
360 370 380 390 400
EKNKTLKNVI QHLEMELNRW RNGEAVPEDE QISAKDQKNL EPCDNTPIID
410 420 430 440 450
NIAPVVAGIS TEEKEKYDEE ISSLYRQLDD KDDEINQQSQ LAEKLKQQML
460 470 480 490 500
DQDELLASTR RDYEKIQEEL TRLQIENEAA KDEVKEVLQA LEELAVNYDQ
510 520 530 540 550
KSQEVEDKTR ANEQLTDELA QKTTTLTTTQ RELSQLQELS NHQKKRATEI
560 570 580 590 600
LNLLLKDLGE IGGIIGTNDV KTLADVNGVI EEEFTMARLY ISKMKSEVKS
610 620 630 640 650
LVNRSKQLES AQMDSNRKMN ASERELAACQ LLISQHEAKI KSLTDYMQNM
660 670 680 690 700
EQKRRQLEES QDSLSEELAK LRAQEKMHEV SFQDKEKEHL TRLQDAEEMK
710 720 730 740 750
KALEQQMESH REAHQKQLSR LRDEIEEKQK IIDEIRDLNQ KLQLEQEKLS
760 770 780 790 800
SDYNKLKIED QEREMKLEKL LLLNDKREQA REDLKGLEET VSRELQTLHN
810 820 830 840 850
LRKLFVQDLT TRVKKSVELD NDDGGGSAAQ KQKISFLENN LEQLTKVHKQ
860 870 880 890 900
LVRDNADLRC ELPKLEKRLR ATAERVKALE SALKEAKENA MRDRKRYQQE
910 920 930 940 950
VDRIKEAVRA KNMARRAHSA QIAKPIRPGH YPASSPTAVH AIRGGGGSSS

NSTHYQK
Length:957
Mass (Da):109,495
Last modified:August 1, 1998 - v1
Checksum:iA9F25BB1C994322A
GO
Isoform 2 (identifier: O60282-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-232: Missing.
     233-238: LAGSEK → MATYIH

Show »
Length:725
Mass (Da):83,178
Checksum:i323C36FF4653E281
GO

Sequence cautioni

The sequence BAA25457.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti355 – 3606TLKNVI → STHASV in AAD01436. (PubMed:9361024)Curated
Sequence conflicti583 – 5853EFT → DRV in AAD01436. (PubMed:9361024)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti237 – 2371E → K Found in a patient with mental retardation, severe delay in motor development, seizures and no speech. 1 Publication
VAR_069389
Natural varianti237 – 2371E → V in CDCBM2; the mutant protein has a complete loss of ATP hydrolysis activity; colocalizes with microtubules throughout the cell but does not appear as puncta or accumulates in cortical clusters as does the wild-type protein. 1 Publication
VAR_070574

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 232232Missing in isoform 2. 1 PublicationVSP_035715Add
BLAST
Alternative sequencei233 – 2386LAGSEK → MATYIH in isoform 2. 1 PublicationVSP_035716

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB011103 mRNA. Translation: BAA25457.2. Different initiation.
AC105402 Genomic DNA. No translation available.
AC108512 Genomic DNA. No translation available.
AC144443 Genomic DNA. No translation available.
AC144611 Genomic DNA. No translation available.
BC110287 mRNA. Translation: AAI10288.1.
AF010146 mRNA. Translation: AAD01436.1.
CCDSiCCDS74586.1. [O60282-1]
RefSeqiNP_004513.1. NM_004522.2. [O60282-1]
UniGeneiHs.435557.
Hs.660699.

Genome annotation databases

EnsembliENST00000435030; ENSP00000393379; ENSG00000168280. [O60282-1]
GeneIDi3800.
KEGGihsa:3800.
UCSCiuc010zbu.2. human. [O60282-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB011103 mRNA. Translation: BAA25457.2. Different initiation.
AC105402 Genomic DNA. No translation available.
AC108512 Genomic DNA. No translation available.
AC144443 Genomic DNA. No translation available.
AC144611 Genomic DNA. No translation available.
BC110287 mRNA. Translation: AAI10288.1.
AF010146 mRNA. Translation: AAD01436.1.
CCDSiCCDS74586.1. [O60282-1]
RefSeqiNP_004513.1. NM_004522.2. [O60282-1]
UniGeneiHs.435557.
Hs.660699.

3D structure databases

ProteinModelPortaliO60282.
SMRiO60282. Positions 2-372.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110001. 21 interactions.
IntActiO60282. 8 interactions.
STRINGi9606.ENSP00000393379.

Chemistry

BindingDBiO60282.
ChEMBLiCHEMBL2029194.

PTM databases

PhosphoSiteiO60282.

Proteomic databases

MaxQBiO60282.
PaxDbiO60282.
PRIDEiO60282.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000435030; ENSP00000393379; ENSG00000168280. [O60282-1]
GeneIDi3800.
KEGGihsa:3800.
UCSCiuc010zbu.2. human. [O60282-1]

Organism-specific databases

CTDi3800.
GeneCardsiGC02P149632.
HGNCiHGNC:6325. KIF5C.
HPAiHPA035210.
MIMi604593. gene.
615282. phenotype.
neXtProtiNX_O60282.
PharmGKBiPA30109.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG5059.
GeneTreeiENSGT00770000120453.
HOGENOMiHOG000216718.
HOVERGENiHBG006210.
InParanoidiO60282.
KOiK10396.
OMAiPKFKGEE.
PhylomeDBiO60282.
TreeFamiTF105225.

Enzyme and pathway databases

ReactomeiREACT_15550. Insulin processing.

Miscellaneous databases

ChiTaRSiKIF5C. human.
GeneWikiiKIF5C.
GenomeRNAii3800.
NextBioi14921.
PROiO60282.
SOURCEiSearch...

Gene expression databases

BgeeiO60282.
CleanExiHS_KIF5C.
ExpressionAtlasiO60282. baseline and differential.
GenevestigatoriO60282.

Family and domain databases

Gene3Di3.40.850.10. 1 hit.
InterProiIPR027640. Kinesin-like_fam.
IPR019821. Kinesin_motor_CS.
IPR001752. Kinesin_motor_dom.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR24115. PTHR24115. 1 hit.
PfamiPF00225. Kinesin. 1 hit.
[Graphical view]
PRINTSiPR00380. KINESINHEAVY.
SMARTiSM00129. KISc. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS00411. KINESIN_MOTOR_1. 1 hit.
PS50067. KINESIN_MOTOR_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
    Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 5:31-39(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Brain.
  4. "Huntingtin-associated protein 1 (HAP1) interacts with the p150Glued subunit of dynactin."
    Engelender S., Sharp A.H., Colomer V., Tokito M.K., Lanahan A., Worley P., Holzbaur E.L.F., Ross C.A.
    Hum. Mol. Genet. 6:2205-2212(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 355-585 (ISOFORMS 1/2).
  5. "GRIF-1 and OIP106, members of a novel gene family of coiled-coil domain proteins: association in vivo and in vitro with kinesin."
    Brickley K., Smith M.J., Beck M., Stephenson F.A.
    J. Biol. Chem. 280:14723-14732(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH TRAK1.
  6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  7. Cited for: VARIANT LYS-237.
  8. Cited for: VARIANT CDCBM2 VAL-237, CHARACTERIZATION OF VARIANT CDCBM2 VAL-237.

Entry informationi

Entry nameiKIF5C_HUMAN
AccessioniPrimary (citable) accession number: O60282
Secondary accession number(s): O95079, Q2YDC5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: August 1, 1998
Last modified: February 4, 2015
This is version 132 of the entry and version 1 of the sequence. [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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.