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O60282

- KIF5C_HUMAN

UniProt

O60282 - KIF5C_HUMAN

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Protein
Kinesin heavy chain isoform 5C
Gene
KIF5C, KIAA0531, NKHC2
Organism
Homo sapiens (Human)
Status
Reviewed - 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.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi86 – 938ATP By similarity

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. microtubule motor activity Source: ProtInc
  3. protein binding Source: IntAct

GO - Biological processi

  1. mRNA transport Source: UniProtKB
  2. metabolic process Source: GOC
  3. microtubule-based movement Source: InterPro
  4. organelle organization Source: ProtInc
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

Cytoplasmcytoskeleton Inferred

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-KW
  2. kinesin complex Source: ProtInc
  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 2 (CDCBM2) [MIM:615282]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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 5C
PRO_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

ArrayExpressiO60282.
BgeeiO60282.
CleanExiHS_KIF5C.
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 TRAK1.1 Publication

Binary interactionsi

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

Protein-protein interaction databases

BioGridi110001. 15 interactions.
IntActiO60282. 8 interactions.
STRINGi9606.ENSP00000393379.

Structurei

3D structure databases

ProteinModelPortaliO60282.
SMRiO60282. Positions 2-372.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini8 – 327320Kinesin motor
Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni174 – 315142Microtubule-binding
Add
BLAST
Regioni859 – 95698Globular
Add
BLAST

Coiled coil

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

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiCOG5059.
HOGENOMiHOG000216718.
HOVERGENiHBG006210.
InParanoidiO60282.
KOiK10396.
OMAiGTMRENE.
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

MADPAECSIK VMCRFRPLNE AEILRGDKFI PKFKGDETVV IGQGKPYVFD    50
RVLPPNTTQE QVYNACAKQI VKDVLEGYNG TIFAYGQTSS GKTHTMEGKL 100
HDPQLMGIIP RIAHDIFDHI YSMDENLEFH IKVSYFEIYL DKIRDLLDVS 150
KTNLAVHEDK NRVPYVKGCT ERFVSSPEEV MDVIDEGKAN RHVAVTNMNE 200
HSSRSHSIFL INIKQENVET EKKLSGKLYL VDLAGSEKVS KTGAEGAVLD 250
EAKNINKSLS ALGNVISALA EGTKTHVPYR DSKMTRILQD SLGGNCRTTI 300
VICCSPSVFN EAETKSTLMF GQRAKTIKNT VSVNLELTAE EWKKKYEKEK 350
EKNKTLKNVI QHLEMELNRW RNGEAVPEDE QISAKDQKNL EPCDNTPIID 400
NIAPVVAGIS TEEKEKYDEE ISSLYRQLDD KDDEINQQSQ LAEKLKQQML 450
DQDELLASTR RDYEKIQEEL TRLQIENEAA KDEVKEVLQA LEELAVNYDQ 500
KSQEVEDKTR ANEQLTDELA QKTTTLTTTQ RELSQLQELS NHQKKRATEI 550
LNLLLKDLGE IGGIIGTNDV KTLADVNGVI EEEFTMARLY ISKMKSEVKS 600
LVNRSKQLES AQMDSNRKMN ASERELAACQ LLISQHEAKI KSLTDYMQNM 650
EQKRRQLEES QDSLSEELAK LRAQEKMHEV SFQDKEKEHL TRLQDAEEMK 700
KALEQQMESH REAHQKQLSR LRDEIEEKQK IIDEIRDLNQ KLQLEQEKLS 750
SDYNKLKIED QEREMKLEKL LLLNDKREQA REDLKGLEET VSRELQTLHN 800
LRKLFVQDLT TRVKKSVELD NDDGGGSAAQ KQKISFLENN LEQLTKVHKQ 850
LVRDNADLRC ELPKLEKRLR ATAERVKALE SALKEAKENA MRDRKRYQQE 900
VDRIKEAVRA KNMARRAHSA QIAKPIRPGH YPASSPTAVH AIRGGGGSSS 950
NSTHYQK 957
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.

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.
VSP_035715Add
BLAST
Alternative sequencei233 – 2386LAGSEK → MATYIH in isoform 2.
VSP_035716

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti355 – 3606TLKNVI → STHASV in AAD01436. 1 Publication
Sequence conflicti583 – 5853EFT → DRV in AAD01436. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
RefSeqiNP_004513.1. NM_004522.2. [O60282-1]
UniGeneiHs.435557.
Hs.660699.

Genome annotation databases

EnsembliENST00000397413; ENSP00000380560; ENSG00000168280. [O60282-2]
ENST00000435030; ENSP00000393379; ENSG00000168280. [O60282-1]
ENST00000574197; ENSP00000460677; ENSG00000262907. [O60282-2]
ENST00000576072; ENSP00000461857; ENSG00000262907. [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:
EMBL
GenBank
DDBJ
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 .
RefSeqi NP_004513.1. NM_004522.2. [O60282-1 ]
UniGenei Hs.435557.
Hs.660699.

3D structure databases

ProteinModelPortali O60282.
SMRi O60282. Positions 2-372.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110001. 15 interactions.
IntActi O60282. 8 interactions.
STRINGi 9606.ENSP00000393379.

Chemistry

ChEMBLi CHEMBL2029194.

PTM databases

PhosphoSitei O60282.

Proteomic databases

MaxQBi O60282.
PaxDbi O60282.
PRIDEi O60282.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000397413 ; ENSP00000380560 ; ENSG00000168280 . [O60282-2 ]
ENST00000435030 ; ENSP00000393379 ; ENSG00000168280 . [O60282-1 ]
ENST00000574197 ; ENSP00000460677 ; ENSG00000262907 . [O60282-2 ]
ENST00000576072 ; ENSP00000461857 ; ENSG00000262907 . [O60282-1 ]
GeneIDi 3800.
KEGGi hsa:3800.
UCSCi uc010zbu.2. human. [O60282-1 ]

Organism-specific databases

CTDi 3800.
GeneCardsi GC02P149632.
HGNCi HGNC:6325. KIF5C.
HPAi HPA035210.
MIMi 604593. gene.
615282. phenotype.
neXtProti NX_O60282.
PharmGKBi PA30109.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5059.
HOGENOMi HOG000216718.
HOVERGENi HBG006210.
InParanoidi O60282.
KOi K10396.
OMAi GTMRENE.
PhylomeDBi O60282.
TreeFami TF105225.

Enzyme and pathway databases

Reactomei REACT_15550. Insulin processing.

Miscellaneous databases

ChiTaRSi KIF5C. human.
GeneWikii KIF5C.
GenomeRNAii 3800.
NextBioi 14921.
PROi O60282.
SOURCEi Search...

Gene expression databases

ArrayExpressi O60282.
Bgeei O60282.
CleanExi HS_KIF5C.
Genevestigatori O60282.

Family and domain databases

Gene3Di 3.40.850.10. 1 hit.
InterProi IPR027640. Kinesin-like_fam.
IPR019821. Kinesin_motor_CS.
IPR001752. Kinesin_motor_dom.
IPR027417. P-loop_NTPase.
[Graphical view ]
PANTHERi PTHR24115. PTHR24115. 1 hit.
Pfami PF00225. Kinesin. 1 hit.
[Graphical view ]
PRINTSi PR00380. KINESINHEAVY.
SMARTi SM00129. KISc. 1 hit.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 1 hit.
PROSITEi PS00411. KINESIN_MOTOR_1. 1 hit.
PS50067. KINESIN_MOTOR_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: September 3, 2014
This is version 127 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

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