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Q12840

- KIF5A_HUMAN

UniProt

Q12840 - KIF5A_HUMAN

Protein

Kinesin heavy chain isoform 5A

Gene

KIF5A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 129 (01 Oct 2014)
      Sequence version 2 (03 Apr 2007)
      Previous versions | rss
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    Functioni

    Microtubule-dependent motor required for slow axonal transport of neurofilament proteins (NFH, NFM and NFL).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: InterPro
    3. motor activity Source: ProtInc
    4. protein binding Source: IntAct

    GO - Biological processi

    1. antigen processing and presentation of exogenous peptide antigen via MHC class II Source: Reactome
    2. blood coagulation Source: Reactome
    3. cell death Source: UniProtKB-KW
    4. metabolic process Source: GOC
    5. microtubule-based movement Source: Reactome
    6. synaptic transmission Source: ProtInc

    Keywords - Molecular functioni

    Motor protein

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Enzyme and pathway databases

    ReactomeiREACT_121399. MHC class II antigen presentation.
    REACT_15550. Insulin processing.
    REACT_25201. Kinesins.
    SignaLinkiQ12840.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Kinesin heavy chain isoform 5A
    Alternative name(s):
    Kinesin heavy chain neuron-specific 1
    Neuronal kinesin heavy chain
    Short name:
    NKHC
    Gene namesi
    Name:KIF5A
    Synonyms:NKHC1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 12

    Organism-specific databases

    HGNCiHGNC:6323. KIF5A.

    Subcellular locationi

    Cytoplasmperinuclear region By similarity. Cytoplasmcytoskeleton By similarity
    Note: Concentrated in the cell body of the neurons, particularly in the perinuclear region.By similarity

    GO - Cellular componenti

    1. cytosol Source: Reactome
    2. kinesin complex Source: ProtInc
    3. membrane Source: UniProtKB
    4. microtubule Source: UniProtKB-KW
    5. perinuclear region of cytoplasm Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton, Microtubule

    Pathology & Biotechi

    Involvement in diseasei

    Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187]: A 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.7 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti63 – 631Y → C in SPG10; complicated form. 1 Publication
    VAR_058741
    Natural varianti198 – 1981M → T in SPG10; complicated form. 1 Publication
    VAR_058742
    Natural varianti203 – 2031S → C in SPG10. 1 Publication
    VAR_066616
    Natural varianti204 – 2041R → Q in SPG10; complicated form. 1 Publication
    VAR_058743
    Natural varianti251 – 2511E → K in SPG10; complicated form. 1 Publication
    VAR_058744
    Natural varianti253 – 2531K → N in SPG10; decreases microtubule affinity; reduces gliding velocity; reduces microtubule-dependent ATP turnover. 2 Publications
    VAR_046744
    Natural varianti256 – 2561N → S in SPG10; slightly decreases microtubule affinity; reduces gliding velocity; reduces microtubule-dependent ATP turnover. 1 Publication
    VAR_032842
    Natural varianti256 – 2561Missing in SPG10. 1 Publication
    VAR_058745
    Natural varianti257 – 2571K → N in SPG10; complicated form. 1 Publication
    VAR_058746
    Natural varianti276 – 2761Y → C in SPG10. 1 Publication
    VAR_033108
    Natural varianti280 – 2801R → C in SPG10. 2 Publications
    VAR_032843
    Natural varianti280 – 2801R → H in SPG10; complicated form. 1 Publication
    VAR_058747
    Natural varianti280 – 2801R → L in SPG10; pure form. 1 Publication
    VAR_058748
    Natural varianti361 – 3611A → V in SPG10; does not affect microtubule affinity; does not affect gliding velocity; does not affect microtubule-dependent ATP turnover. 1 Publication
    Corresponds to variant rs121434444 [ dbSNP | Ensembl ].
    VAR_032844

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi280 – 2801R → S: Strongly reduces microtubule affinity; slightly reduces gliding velocity. 1 Publication

    Keywords - Diseasei

    Disease mutation, Hereditary spastic paraplegia, Neurodegeneration

    Organism-specific databases

    MIMi604187. phenotype.
    Orphaneti324611. Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation.
    100991. Autosomal dominant spastic paraplegia type 10.
    PharmGKBiPA30107.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 10321031Kinesin heavy chain isoform 5APRO_0000125353Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ12840.
    PaxDbiQ12840.
    PRIDEiQ12840.

    PTM databases

    PhosphoSiteiQ12840.

    Expressioni

    Tissue specificityi

    Distributed throughout the CNS but is highly enriched in subsets of neurons.

    Gene expression databases

    ArrayExpressiQ12840.
    BgeeiQ12840.
    CleanExiHS_KIF5A.
    GenevestigatoriQ12840.

    Organism-specific databases

    HPAiCAB015157.
    HPA004469.

    Interactioni

    Subunit structurei

    Oligomer composed of two heavy chains and two light chains. Interacts with GRIP1 By similarity.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ANKRD27Q96NW44EBI-713468,EBI-6125599
    Trak2Q8R2H72EBI-713468,EBI-1396483From a different organism.

    Protein-protein interaction databases

    BioGridi109999. 18 interactions.
    DIPiDIP-37584N.
    IntActiQ12840. 16 interactions.
    MINTiMINT-1370533.
    STRINGi9606.ENSP00000286452.

    Structurei

    3D structure databases

    ProteinModelPortaliQ12840.
    SMRiQ12840. Positions 7-339.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini9 – 327319Kinesin motorPROSITE-ProRule annotationAdd
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni174 – 315142Microtubule-bindingAdd
    BLAST
    Regioni907 – 1032126GlobularAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili331 – 906576Add
    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.
    InParanoidiQ12840.
    KOiK10396.
    OMAiEVQMESH.
    OrthoDBiEOG7T4MJD.
    PhylomeDBiQ12840.
    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]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    Q12840-1 [UniParc]FASTAAdd to Basket

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    MAETNNECSI KVLCRFRPLN QAEILRGDKF IPIFQGDDSV VIGGKPYVFD     50
    RVFPPNTTQE QVYHACAMQI VKDVLAGYNG TIFAYGQTSS GKTHTMEGKL 100
    HDPQLMGIIP RIARDIFNHI YSMDENLEFH IKVSYFEIYL DKIRDLLDVT 150
    KTNLSVHEDK NRVPFVKGCT ERFVSSPEEI LDVIDEGKSN RHVAVTNMNE 200
    HSSRSHSIFL INIKQENMET EQKLSGKLYL VDLAGSEKVS KTGAEGAVLD 250
    EAKNINKSLS ALGNVISALA EGTKSYVPYR DSKMTRILQD SLGGNCRTTM 300
    FICCSPSSYN DAETKSTLMF GQRAKTIKNT ASVNLELTAE QWKKKYEKEK 350
    EKTKAQKETI AKLEAELSRW RNGENVPETE RLAGEEAALG AELCEETPVN 400
    DNSSIVVRIA PEERQKYEEE IRRLYKQLDD KDDEINQQSQ LIEKLKQQML 450
    DQEELLVSTR GDNEKVQREL SHLQSENDAA KDEVKEVLQA LEELAVNYDQ 500
    KSQEVEEKSQ QNQLLVDELS QKVATMLSLE SELQRLQEVS GHQRKRIAEV 550
    LNGLMKDLSE FSVIVGNGEI KLPVEISGAI EEEFTVARLY ISKIKSEVKS 600
    VVKRCRQLEN LQVECHRKME VTGRELSSCQ LLISQHEAKI RSLTEYMQSV 650
    ELKKRHLEES YDSLSDELAK LQAQETVHEV ALKDKEPDTQ DADEVKKALE 700
    LQMESHREAH HRQLARLRDE INEKQKTIDE LKDLNQKLQL ELEKLQADYE 750
    KLKSEEHEKS TKLQELTFLY ERHEQSKQDL KGLEETVARE LQTLHNLRKL 800
    FVQDVTTRVK KSAEMEPEDS GGIHSQKQKI SFLENNLEQL TKVHKQLVRD 850
    NADLRCELPK LEKRLRATAE RVKALEGALK EAKEGAMKDK RRYQQEVDRI 900
    KEAVRYKSSG KRGHSAQIAK PVRPGHYPAS SPTNPYGTRS PECISYTNSL 950
    FQNYQNLYLQ ATPSSTSDMY FANSCTSSGA TSSGGPLASY QKANMDNGNA 1000
    TDINDNRSDL PCGYEAEDQA KLFPLHQETA AS 1032
    Length:1,032
    Mass (Da):117,378
    Last modified:April 3, 2007 - v2
    Checksum:iC4C6C12342040796
    GO

    Sequence cautioni

    The sequence BAE06127.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti490 – 4901A → V in BAE06127. 1 PublicationCurated
    Sequence conflicti913 – 9131G → A in AAA20231. (PubMed:7514426)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti63 – 631Y → C in SPG10; complicated form. 1 Publication
    VAR_058741
    Natural varianti198 – 1981M → T in SPG10; complicated form. 1 Publication
    VAR_058742
    Natural varianti203 – 2031S → C in SPG10. 1 Publication
    VAR_066616
    Natural varianti204 – 2041R → Q in SPG10; complicated form. 1 Publication
    VAR_058743
    Natural varianti251 – 2511E → K in SPG10; complicated form. 1 Publication
    VAR_058744
    Natural varianti253 – 2531K → N in SPG10; decreases microtubule affinity; reduces gliding velocity; reduces microtubule-dependent ATP turnover. 2 Publications
    VAR_046744
    Natural varianti256 – 2561N → S in SPG10; slightly decreases microtubule affinity; reduces gliding velocity; reduces microtubule-dependent ATP turnover. 1 Publication
    VAR_032842
    Natural varianti256 – 2561Missing in SPG10. 1 Publication
    VAR_058745
    Natural varianti257 – 2571K → N in SPG10; complicated form. 1 Publication
    VAR_058746
    Natural varianti276 – 2761Y → C in SPG10. 1 Publication
    VAR_033108
    Natural varianti280 – 2801R → C in SPG10. 2 Publications
    VAR_032843
    Natural varianti280 – 2801R → H in SPG10; complicated form. 1 Publication
    VAR_058747
    Natural varianti280 – 2801R → L in SPG10; pure form. 1 Publication
    VAR_058748
    Natural varianti361 – 3611A → V in SPG10; does not affect microtubule affinity; does not affect gliding velocity; does not affect microtubule-dependent ATP turnover. 1 Publication
    Corresponds to variant rs121434444 [ dbSNP | Ensembl ].
    VAR_032844

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U06698 mRNA. Translation: AAA20231.1.
    AB210045 mRNA. Translation: BAE06127.1. Different initiation.
    CH471054 Genomic DNA. Translation: EAW97030.1.
    BC146670 mRNA. Translation: AAI46671.1.
    BC150208 mRNA. Translation: AAI50209.1.
    CCDSiCCDS8945.1.
    PIRiI38510.
    RefSeqiNP_004975.2. NM_004984.2.
    UniGeneiHs.151219.

    Genome annotation databases

    EnsembliENST00000455537; ENSP00000408979; ENSG00000155980.
    GeneIDi3798.
    KEGGihsa:3798.
    UCSCiuc001sor.1. human.

    Polymorphism databases

    DMDMi143811412.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U06698 mRNA. Translation: AAA20231.1 .
    AB210045 mRNA. Translation: BAE06127.1 . Different initiation.
    CH471054 Genomic DNA. Translation: EAW97030.1 .
    BC146670 mRNA. Translation: AAI46671.1 .
    BC150208 mRNA. Translation: AAI50209.1 .
    CCDSi CCDS8945.1.
    PIRi I38510.
    RefSeqi NP_004975.2. NM_004984.2.
    UniGenei Hs.151219.

    3D structure databases

    ProteinModelPortali Q12840.
    SMRi Q12840. Positions 7-339.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109999. 18 interactions.
    DIPi DIP-37584N.
    IntActi Q12840. 16 interactions.
    MINTi MINT-1370533.
    STRINGi 9606.ENSP00000286452.

    Chemistry

    BindingDBi Q12840.
    ChEMBLi CHEMBL5295.

    PTM databases

    PhosphoSitei Q12840.

    Polymorphism databases

    DMDMi 143811412.

    Proteomic databases

    MaxQBi Q12840.
    PaxDbi Q12840.
    PRIDEi Q12840.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000455537 ; ENSP00000408979 ; ENSG00000155980 .
    GeneIDi 3798.
    KEGGi hsa:3798.
    UCSCi uc001sor.1. human.

    Organism-specific databases

    CTDi 3798.
    GeneCardsi GC12P057943.
    H-InvDB HIX0036852.
    HGNCi HGNC:6323. KIF5A.
    HPAi CAB015157.
    HPA004469.
    MIMi 602821. gene.
    604187. phenotype.
    neXtProti NX_Q12840.
    Orphaneti 324611. Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation.
    100991. Autosomal dominant spastic paraplegia type 10.
    PharmGKBi PA30107.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5059.
    HOGENOMi HOG000216718.
    HOVERGENi HBG006210.
    InParanoidi Q12840.
    KOi K10396.
    OMAi EVQMESH.
    OrthoDBi EOG7T4MJD.
    PhylomeDBi Q12840.
    TreeFami TF105225.

    Enzyme and pathway databases

    Reactomei REACT_121399. MHC class II antigen presentation.
    REACT_15550. Insulin processing.
    REACT_25201. Kinesins.
    SignaLinki Q12840.

    Miscellaneous databases

    ChiTaRSi KIF5A. human.
    GeneWikii KIF5A.
    GenomeRNAii 3798.
    NextBioi 14913.
    PROi Q12840.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q12840.
    Bgeei Q12840.
    CleanExi HS_KIF5A.
    Genevestigatori Q12840.

    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. "Cloning and localization of a conventional kinesin motor expressed exclusively in neurons."
      Niclas J., Navone F., Hom-Booher N., Vale R.D.
      Neuron 12:1059-1072(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Hippocampus.
    2. "Preparation of a set of expression-ready clones of mammalian long cDNAs encoding large proteins by the ORF trap cloning method."
      Nakajima D., Saito K., Yamakawa H., Kikuno R.F., Nakayama M., Ohara R., Okazaki N., Koga H., Nagase T., Ohara O.
      Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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].
    5. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
    6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    7. Cited for: VARIANT SPG10 SER-256.
    8. "Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia."
      Fichera M., Lo Giudice M., Falco M., Sturnio M., Amata S., Calabrese O., Bigoni S., Calzolari E., Neri M.
      Neurology 63:1108-1110(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SPG10 CYS-280.
    9. "A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia."
      Lo Giudice M., Neri M., Falco M., Sturnio M., Calzolari E., Di Benedetto D., Fichera M.
      Arch. Neurol. 63:284-287(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SPG10 VAL-361.
    10. "Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia."
      Blair M.A., Ma S., Hedera P.
      Neurogenetics 7:47-50(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SPG10 CYS-276.
    11. "Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity."
      Ebbing B., Mann K., Starosta A., Jaud J., Schoels L., Schuele R., Woehlke G.
      Hum. Mol. Genet. 17:1245-1252(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ASN-253, CHARACTERIZATION OF VARIANT ASN-253, CHARACTERIZATION OF VARIANTS SPG10 SER-256 AND VAL-361, MUTAGENESIS OF ARG-280.
    12. Cited for: VARIANTS SPG10 ASN-253 AND ASN-256 DEL.
    13. "Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10."
      Goizet C., Boukhris A., Mundwiller E., Tallaksen C., Forlani S., Toutain A., Carriere N., Paquis V., Depienne C., Durr A., Stevanin G., Brice A.
      Hum. Mutat. 30:E376-E385(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS SPG10 CYS-63; THR-198; GLN-204; LYS-251; ASN-257; CYS-280; LEU-280 AND HIS-280.
    14. "A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy."
      Musumeci O., Bassi M.T., Mazzeo A., Grandis M., Crimella C., Martinuzzi A., Toscano A.
      Neurol. Sci. 32:665-668(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT SPG10 CYS-203.

    Entry informationi

    Entry nameiKIF5A_HUMAN
    AccessioniPrimary (citable) accession number: Q12840
    Secondary accession number(s): A6H8M5, Q4LE26
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: April 3, 2007
    Last modified: October 1, 2014
    This is version 129 of the entry and version 2 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 12
      Human chromosome 12: 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