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O60282

- KIF5C_HUMAN

UniProt

O60282 - KIF5C_HUMAN

Protein

Kinesin heavy chain isoform 5C

Gene

KIF5C

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 128 (01 Oct 2014)
      Sequence version 1 (01 Aug 1998)
      Previous versions | rss
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    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. ATP binding Source: UniProtKB-KW
    2. microtubule motor activity Source: ProtInc
    3. protein binding Source: IntAct

    GO - Biological processi

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

    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: ProtInc
    3. microtubule Source: UniProtKB-KW

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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

    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.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. 15 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.
    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.

    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:
    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

    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:
    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 ENST00000435030 ; ENSP00000393379 ; ENSG00000168280 . [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

    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: October 1, 2014
    This is version 128 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