Reactome | UniProt:Q12840 KIF5A

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UniProt:Q12840 KIF5A Show undefined attributes

chain	initiator methionine:1 chain:2-1032
checksum	C4C6C12342040796
comment	FUNCTION Microtubule-dependent motor required for slow axonal transport of neurofilament proteins (NFH, NFM and NFL). Can induce formation of neurite-like membrane protrusions in non-neuronal cells in a ZFYVE27-dependent manner. The ZFYVE27-KIF5A complex contributes to the vesicular transport of VAPA, VAPB, SURF4, RAB11A, RAB11B and RTN3 proteins in neurons. Required for anterograde axonal transportation of MAPK8IP3/JIP3 which is essential for MAPK8IP3/JIP3 function in axon elongation.CATALYTIC ACTIVITY ATP + H2O + a kinesin associated with a microtubule at position (n) = ADP + phosphate a kinesin associated with a microtubule at position (n+1, toward the plus end).SUBUNIT Oligomer composed of two heavy chains and two light chains. Interacts with GRIP1. Interacts with FMR1 (via C-terminus); this interaction is increased in a mGluR-dependent manner. Interacts with ZFYVE27. Interacts with VAPA, VAPB, SURF4, RAB11A (GDP-bound form), RAB11B (GDP-bound form) and RTN3 in a ZFYVE27-dependent manner (By similarity). Interacts with BORCS5 (PubMed:25898167). Interacts with BICD2 (PubMed:20386726). Interacts with DTNB (By similarity).INTERACTION Concentrated in the cell body of the neurons, particularly in the perinuclear region.TISSUE SPECIFICITY Distributed throughout the CNS but is highly enriched in subsets of neurons.DOMAIN 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.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE Disease susceptibility is associated with variants affecting the gene represented in this entry. The mutation NM_004984.2:c.33019A>G encoding the predicted missence variant p.Arg1007Gly, may also affect splicing and induce the skipping of exon 27, resulting in a frameshift and a premature stop codon producing a truncated protein p.Asn999Valfs*39.SIMILARITY Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesin subfamily.SEQUENCE CAUTION Extended N-terminus.
crossReference	[DatabaseIdentifier:12815925] ZINC target:Q12840 [DatabaseIdentifier:12812551] ZINC - Substances:KIF5A_HUMAN [DatabaseIdentifier:12311919] RefSeq:NP_004975.2 [DatabaseIdentifier:12282285] Pharos - Targets:Q12840 [DatabaseIdentifier:12239977] PRO:Q12840 [DatabaseIdentifier:12157209] PDB:4UXY [DatabaseIdentifier:12157208] PDB:4UXT [DatabaseIdentifier:12157207] PDB:4UY0 [DatabaseIdentifier:12136521] Orphanet:KIF5A [DatabaseIdentifier:12121961] OpenTargets:ENSG00000155980 [DatabaseIdentifier:11850914] IntEnz:5.6.1.3 [DatabaseIdentifier:11837466] HPA:ENSG00000155980-KIF5A [DatabaseIdentifier:11784369] GeneCards:KIF5A [DatabaseIdentifier:11655543] ENSEMBL:ENST00000455537 [DatabaseIdentifier:11532844] ENSEMBL:ENSP00000408979 [DatabaseIdentifier:11445790] ENSEMBL:ENSG00000155980
databaseName	UniProt
dbId	58085
description	recommendedName: Kinesin heavy chain isoform 5A ecNumber evidence="23"5.6.1.3 alternativeName: Kinesin heavy chain neuron-specific 1 alternativeName: fullName evidence="21"Neuronal kinesin heavy chain shortName evidence="21"NKHC
displayName	UniProt:Q12840 KIF5A
geneName	KIF5A NKHC1
identifier	Q12840
isSequenceChanged	false
keyword	3D-structure Acetylation Amyotrophic lateral sclerosis ATP-binding Coiled coil Cytoplasm Cytoskeleton Disease variant Epilepsy Hereditary spastic paraplegia Hydrolase Isomerase Microtubule Motor protein Neurodegeneration Nucleotide-binding Phosphoprotein Proteomics identification Reference proteome
modified	[InstanceEdit:9963647] Weiser, Joel, 2025-08-15
moleculeType	Protein
name	KIF5A
otherIdentifier	11727398_a_at 11750595_a_at 11758975_s_at 11758976_at 16752995 205318_PM_at 205318_at 223933_PM_at 223933_at 3418250 3418251 3418252 3418254 3418255 3418256 3418257 3418258 3418259 3418260 3418261 3418262 3418263 3418264 3418265 3418266 3418267 3418268 3418271 3418272 3418273 3418274 3418275 3418276 3418277 3418278 3418279 3418280 3418281 3418282 3418283 3418284 3418285 3418286 3418287 3418288 3418289 3418290 3418291 3418292 3418293 3418294 3418295 3418296 3418297 3418299 3418300 3418302 35880_at 3798 49223_s_at 7956488 7956522 A_14_P100182 A_23_P218025 A_24_P227375 A_24_P93948 GE63027 GE83459 GE871618 GO:0000166 GO:0003774 GO:0003777 GO:0005515 GO:0005524 GO:0005737 GO:0005829 GO:0005856 GO:0005871 GO:0005874 GO:0007010 GO:0007018 GO:0007097 GO:0007163 GO:0007268 GO:0007292 GO:0007411 GO:0008017 GO:0008092 GO:0008574 GO:0015630 GO:0016020 GO:0016192 GO:0016787 GO:0016853 GO:0016887 GO:0019894 GO:0022414 GO:0030951 GO:0032839 GO:0032991 GO:0035253 GO:0043005 GO:0043025 GO:0043204 GO:0048471 GO:0048489 GO:0070727 GO:0098957 GO:0098971 GO:0099524 GO:0099641 GO:0120544 GO:0140657 GO:1904115 GO:1990049 HMNXSV003005247 HMNXSV003028261 ILMN_1651296 ILMN_1812254 ILMN_2227120 PH_hs_0025492 TC12000534.hg TC12002400.hg U06698_at g12002045_3p_at g4826807_3p_at
physicalEntity	[EntityWithAccessionedSequence:R-HSA-983190] KIF5A [cytosol] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:12722541] UCSC:Q12840 KIF5A [ReferenceDNASequence:12107614] OMIM:602821 KIF5A [ReferenceDNASequence:12025344] NCBI Gene:3798 KIF5A [ReferenceDNASequence:11941251] Monarch:3798 KIF5A [ReferenceDNASequence:11855124] KEGG:hsa:3798 KIF5A [ReferenceDNASequence:11815994] HGNC:6323 KIF5A [ReferenceDNASequence:11434130] dbSNP Gene:3798 KIF5A [ReferenceDNASequence:11408273] CTD Gene:3798 KIF5A [ReferenceDNASequence:11397443] COSMIC - genes:KIF5A KIF5A [ReferenceDNASequence:11311462] BioGPS Gene:3798 KIF5A [ReferenceDNASequence:ensembl:ENSG00000155980] ENSEMBL:ENSG00000155980 KIF5A
referenceTranscript	[ReferenceRNASequence:12493988] RefSeq:NM_004984.2 KIF5A
schemaClass	ReferenceGeneProduct
secondaryIdentifier	KIF5A_HUMAN A6H8M5 Q4LE26
sequenceLength	1032
species	[Species:48887] Homo sapiens
stId	uniprot:Q12840
url	http://purl.uniprot.org/uniprot/Q12840

Referrals

(interactor)	[UndirectedInteraction:11306751] UniProt:Q9NV70 <-> UniProt:Q12840 (IntAct) [UndirectedInteraction:11292129] UniProt:Q15811 <-> UniProt:Q12840 (IntAct) [UndirectedInteraction:11288219] UniProt:P63104 <-> UniProt:Q12840 (IntAct) [UndirectedInteraction:11243713] UniProt:P61981 <-> UniProt:Q12840 (IntAct) [UndirectedInteraction:11139337] UniProt:P31946 <-> UniProt:Q12840 (IntAct)
(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-983190] KIF5A [cytosol]

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