Kinesin heavy chain isoform 5A

NameKinesin heavy chain isoform 5A
SynonymsKinesin heavy chain neuron-specific 1 Neuronal kinesin heavy chain NKHC NKHC1
Gene NameKIF5A
OrganismHuman
Amino acid sequence
>lcl|BSEQ0009164|Kinesin heavy chain isoform 5A
MAETNNECSIKVLCRFRPLNQAEILRGDKFIPIFQGDDSVVIGGKPYVFDRVFPPNTTQE
QVYHACAMQIVKDVLAGYNGTIFAYGQTSSGKTHTMEGKLHDPQLMGIIPRIARDIFNHI
YSMDENLEFHIKVSYFEIYLDKIRDLLDVTKTNLSVHEDKNRVPFVKGCTERFVSSPEEI
LDVIDEGKSNRHVAVTNMNEHSSRSHSIFLINIKQENMETEQKLSGKLYLVDLAGSEKVS
KTGAEGAVLDEAKNINKSLSALGNVISALAEGTKSYVPYRDSKMTRILQDSLGGNCRTTM
FICCSPSSYNDAETKSTLMFGQRAKTIKNTASVNLELTAEQWKKKYEKEKEKTKAQKETI
AKLEAELSRWRNGENVPETERLAGEEAALGAELCEETPVNDNSSIVVRIAPEERQKYEEE
IRRLYKQLDDKDDEINQQSQLIEKLKQQMLDQEELLVSTRGDNEKVQRELSHLQSENDAA
KDEVKEVLQALEELAVNYDQKSQEVEEKSQQNQLLVDELSQKVATMLSLESELQRLQEVS
GHQRKRIAEVLNGLMKDLSEFSVIVGNGEIKLPVEISGAIEEEFTVARLYISKIKSEVKS
VVKRCRQLENLQVECHRKMEVTGRELSSCQLLISQHEAKIRSLTEYMQSVELKKRHLEES
YDSLSDELAKLQAQETVHEVALKDKEPDTQDADEVKKALELQMESHREAHHRQLARLRDE
INEKQKTIDELKDLNQKLQLELEKLQADYEKLKSEEHEKSTKLQELTFLYERHEQSKQDL
KGLEETVARELQTLHNLRKLFVQDVTTRVKKSAEMEPEDSGGIHSQKQKISFLENNLEQL
TKVHKQLVRDNADLRCELPKLEKRLRATAERVKALEGALKEAKEGAMKDKRRYQQEVDRI
KEAVRYKSSGKRGHSAQIAKPVRPGHYPASSPTNPYGTRSPECISYTNSLFQNYQNLYLQ
ATPSSTSDMYFANSCTSSGATSSGGPLASYQKANMDNGNATDINDNRSDLPCGYEAEDQA
KLFPLHQETAAS
Number of residues1032
Molecular Weight117377.305
Theoretical pINone
GO Classification
Functions
    ATP binding
ATP-dependent microtubule motor activity, plus-end-directed
motor activity
Processes
    axon guidance
antigen processing and presentation of exogenous peptide antigen via MHC class II
cytoskeleton-dependent intracellular transport
microtubule-based movement
protein localization
blood coagulation
small GTPase mediated signal transduction
synaptic transmission
Components
    cytosol
perinuclear region of cytoplasm
membrane
microtubule
kinesin complex
General FunctionMotor activity
Specific FunctionMicrotubule-dependent motor required for slow axonal transport of neurofilament proteins (NFH, NFM and NFL).
Transmembrane Regions
GenBank Protein ID
UniProtKB IDQ12840
UniProtKB Entry NameKIF5A_HUMAN
Cellular LocationCytoplasm
Gene sequence
>lcl|BSEQ0019729|Kinesin heavy chain isoform 5A (KIF5A)
ATGGCGGAGACCAACAACGAATGTAGCATCAAGGTGCTCTGCCGATTCCGGCCCCTGAAC
CAGGCTGAGATTCTGCGGGGAGACAAGTTCATCCCCATTTTCCAAGGGGACGACAGCGTC
GTTATTGGGGGGAAGCCATATGTTTTTGACCGTGTATTCCCCCCAAACACGACTCAAGAG
CAAGTTTATCATGCATGTGCCATGCAGATTGTCAAAGATGTCCTTGCTGGCTACAATGGC
ACCATTTTTGCTTATGGACAGACATCCTCAGGGAAAACACATACCATGGAGGGAAAGCTG
CACGACCCTCAGCTGATGGGAATCATTCCTCGAATTGCCCGAGACATCTTCAACCACATC
TACTCCATGGATGAGAACCTTGAGTTCCACATCAAGGTTTCTTACTTTGAAATTTACCTG
GACAAAATTCGTGACCTTCTGGATGTGACCAAGACAAATCTGTCCGTGCACGAGGACAAG
AACCGGGTGCCATTTGTCAAGGGTTGTACTGAACGCTTTGTGTCCAGCCCGGAGGAGATT
CTGGATGTGATTGATGAAGGGAAATCAAATCGTCATGTGGCTGTCACCAACATGAATGAA
CACAGCTCTCGGAGCCACAGCATCTTCCTCATCAACATCAAGCAGGAGAACATGGAAACG
GAGCAGAAGCTCAGTGGGAAGCTGTATCTGGTGGACCTGGCAGGGAGTGAGAAGGTCAGC
AAGACTGGAGCAGAGGGAGCCGTGCTGGACGAGGCAAAGAATATCAACAAGTCACTGTCA
GCTCTGGGCAATGTGATCTCCGCACTGGCTGAGGGCACTAAAAGCTATGTTCCATATCGT
GACAGCAAAATGACAAGGATTCTCCAGGACTCTCTCGGGGGAAACTGCCGGACGACTATG
TTCATCTGTTGCTCACCATCCAGTTATAATGATGCAGAGACCAAGTCCACCCTGATGTTT
GGGCAGCGGGCAAAGACCATTAAGAACACTGCCTCAGTAAATTTGGAGTTGACTGCTGAG
CAGTGGAAGAAGAAATATGAGAAGGAGAAGGAGAAGACAAAGGCCCAGAAGGAGACGATT
GCGAAGCTGGAGGCTGAGCTGAGCCGGTGGCGCAATGGAGAGAATGTGCCTGAGACAGAG
CGCCTGGCTGGGGAGGAGGCAGCCCTGGGAGCCGAGCTCTGTGAGGAGACCCCTGTGAAT
GACAACTCATCCATCGTGGTGCGCATCGCGCCCGAGGAGCGGCAGAAATACGAGGAGGAG
ATCCGCCGTCTCTATAAGCAGCTTGACGACAAGGATGATGAAATCAACCAACAAAGCCAA
CTCATAGAGAAGCTCAAGCAGCAAATGCTGGACCAGGAAGAGCTGCTGGTGTCCACCCGA
GGAGACAACGAGAAGGTCCAGCGGGAGCTGAGCCACCTGCAATCAGAGAACGATGCCGCT
AAGGATGAGGTGAAGGAAGTGCTGCAGGCCCTGGAGGAGCTGGCTGTGAACTATGACCAG
AAGTCCCAGGAGGTGGAGGAGAAGAGCCAGCAGAACCAGCTTCTGGTGGATGAGCTGTCT
CAGAAGGTGGCCACCATGCTGTCCCTGGAGTCTGAGTTGCAGCGGCTACAGGAGGTCAGT
GGACACCAGCGAAAACGAATTGCTGAGGTGCTGAACGGGCTGATGAAGGATCTGAGCGAG
TTCAGTGTCATTGTGGGCAACGGGGAGATTAAGCTGCCAGTGGAGATCAGTGGGGCCATC
GAGGAGGAGTTCACTGTGGCCCGACTCTACATCAGCAAAATCAAATCAGAAGTCAAGTCT
GTGGTCAAGCGGTGCCGGCAGCTGGAGAACCTCCAGGTGGAGTGTCACCGCAAGATGGAA
GTGACCGGGCGGGAGCTCTCATCCTGCCAGCTCCTCATCTCTCAGCATGAGGCCAAGATC
CGCTCGCTTACGGAATACATGCAGAGCGTGGAGCTAAAGAAGCGGCACCTGGAAGAGTCC
TATGACTCCTTGAGCGATGAGCTGGCCAAGCTCCAGGCCCAGGAAACTGTGCATGAAGTG
GCCCTGAAGGACAAGGAGCCTGACACTCAGGATGCAGATGAAGTGAAGAAGGCTCTGGAG
CTGCAGATGGAGAGTCACCGGGAGGCCCATCACCGGCAGCTGGCCCGGCTCCGGGACGAG
ATCAACGAGAAGCAGAAGACCATTGATGAGCTCAAAGACCTAAATCAGAAGCTCCAGTTA
GAGCTAGAGAAGCTTCAGGCTGACTACGAGAAGCTGAAGAGCGAAGAACACGAGAAGAGC
ACCAAGCTGCAGGAGCTGACATTTCTGTACGAGCGACATGAGCAGTCCAAGCAGGACCTC
AAGGGTCTGGAGGAGACAGTTGCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTG
TTCGTTCAAGACGTCACGACTCGAGTCAAGAAAAGTGCAGAAATGGAGCCCGAAGACAGT
GGGGGGATTCACTCCCAAAAGCAGAAGATTTCCTTTCTTGAGAACAACCTGGAACAGCTT
ACAAAGGTTCACAAACAGCTGGTACGTGACAATGCAGATCTGCGTTGTGAGCTTCCTAAA
TTGGAAAAACGACTTAGGGCTACGGCTGAGAGAGTTAAGGCCCTGGAGGGTGCACTGAAG
GAGGCCAAGGAGGGCGCCATGAAGGACAAGCGCCGGTACCAGCAGGAGGTGGACCGCATC
AAGGAGGCCGTTCGCTACAAGAGCTCGGGCAAACGGGGCCATTCTGCCCAGATTGCCAAA
CCCGTCCGGCCTGGCCACTACCCAGCATCCTCACCCACCAACCCCTATGGCACCCGGAGC
CCTGAGTGCATCAGTTACACCAACAGCCTCTTCCAGAACTACCAGAATCTCTACCTGCAG
GCCACACCCAGCTCCACCTCAGATATGTACTTTGCAAACTCCTGTACCAGCAGTGGAGCC
ACATCTTCTGGCGGCCCCTTGGCTTCCTACCAGAAGGCCAACATGGACAATGGAAATGCC
ACAGATATCAATGACAATAGGAGTGACCTGCCGTGTGGCTATGAGGCTGAGGACCAGGCC
AAGCTTTTCCCTCTCCACCAAGAGACAGCAGCCAGCTAA
GenBank Gene ID
GeneCard IDNone
GenAtlas ID
HGNC IDHGNC:6323
Chromosome Location12
LocusNone
References
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  2. Niclas J, Navone F, Hom-Booher N, Vale RD: Cloning and localization of a conventional kinesin motor expressed exclusively in neurons. Neuron. 1994 May;12(5):1059-72.[7514426 ]
  3. Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. Anal Chem. 2009 Jun 1;81(11):4493-501. doi: 10.1021/ac9004309.[19413330 ]
  4. Burkard TR, Planyavsky M, Kaupe I, Breitwieser FP, Burckstummer T, Bennett KL, Superti-Furga G, Colinge J: Initial characterization of the human central proteome. BMC Syst Biol. 2011 Jan 26;5:17. doi: 10.1186/1752-0509-5-17.[21269460 ]
  5. Reid E, Kloos M, Ashley-Koch A, Hughes L, Bevan S, Svenson IK, Graham FL, Gaskell PC, Dearlove A, Pericak-Vance MA, Rubinsztein DC, Marchuk DA: A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). Am J Hum Genet. 2002 Nov;71(5):1189-94. Epub 2002 Sep 24.[12355402 ]
  6. Fichera M, Lo Giudice M, Falco M, Sturnio M, Amata S, Calabrese O, Bigoni S, Calzolari E, Neri M: Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia. Neurology. 2004 Sep 28;63(6):1108-10.[15452312 ]
  7. Lo Giudice M, Neri M, Falco M, Sturnio M, Calzolari E, Di Benedetto D, Fichera M: A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia. Arch Neurol. 2006 Feb;63(2):284-7.[16476820 ]
  8. Blair MA, Ma S, Hedera P: Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia. Neurogenetics. 2006 Mar;7(1):47-50. Epub 2006 Feb 18.[16489470 ]
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  10. Schule R, Kremer BP, Kassubek J, Auer-Grumbach M, Kostic V, Klopstock T, Klimpe S, Otto S, Boesch S, van de Warrenburg BP, Schols L: SPG10 is a rare cause of spastic paraplegia in European families. J Neurol Neurosurg Psychiatry. 2008 May;79(5):584-7. doi: 10.1136/jnnp.2007.137596. Epub 2008 Feb 1.[18245137 ]
  11. Goizet C, Boukhris A, Mundwiller E, Tallaksen C, Forlani S, Toutain A, Carriere N, Paquis V, Depienne C, Durr A, Stevanin G, Brice A: Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. Hum Mutat. 2009 Feb;30(2):E376-85. doi: 10.1002/humu.20920.[18853458 ]
  12. Musumeci O, Bassi MT, Mazzeo A, Grandis M, Crimella C, Martinuzzi A, Toscano A: A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy. Neurol Sci. 2011 Aug;32(4):665-8. doi: 10.1007/s10072-010-0445-8. Epub 2010 Nov 24.[21107874 ]

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