Details for: KIF5A

Gene ID: 3798

Symbol: KIF5A

Ensembl ID: ENSG00000155980

Description: kinesin family member 5A

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 2.11
    Marker Score: 886
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.85
    Marker Score: 19054
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.79
    Marker Score: 16877
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.79
    Marker Score: 66141
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.79
    Marker Score: 7287
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.79
    Marker Score: 109910
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.73
    Marker Score: 7189
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.73
    Marker Score: 6683
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 1.7
    Marker Score: 7079
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.68
    Marker Score: 16005
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.68
    Marker Score: 63612
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.67
    Marker Score: 14321
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.63
    Marker Score: 32479.5
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.6
    Marker Score: 437
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.59
    Marker Score: 2453
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.59
    Marker Score: 12172
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.5
    Marker Score: 22384
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 1.45
    Marker Score: 6726
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 1.44
    Marker Score: 1618
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.37
    Marker Score: 872
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 1.34
    Marker Score: 1890
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 1.3
    Marker Score: 438
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 1.26
    Marker Score: 6610
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.23
    Marker Score: 2330
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.23
    Marker Score: 41483
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.22
    Marker Score: 470
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 1.21
    Marker Score: 702
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.06
    Marker Score: 2687
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.04
    Marker Score: 798
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 1.02
    Marker Score: 1277
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.01
    Marker Score: 591
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 1.01
    Marker Score: 565
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71827
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48052
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.98
    Marker Score: 2023
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5336
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 0.93
    Marker Score: 447
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2742
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5289
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 0.85
    Marker Score: 4546
  • Cell Name: granule cell (CL0000120)
    Fold Change: 0.83
    Marker Score: 6248
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 0.78
    Marker Score: 1804
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1264
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 709
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.77
    Marker Score: 12068
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 397
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.76
    Marker Score: 1544
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.74
    Marker Score: 682.5
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 0.72
    Marker Score: 2404
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 178
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.65
    Marker Score: 1127
  • Cell Name: ganglion interneuron (CL0000397)
    Fold Change: 0.64
    Marker Score: 193
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.63
    Marker Score: 1286
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.6
    Marker Score: 3986
  • Cell Name: motor neuron (CL0000100)
    Fold Change: 0.59
    Marker Score: 348.5
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.59
    Marker Score: 467
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.56
    Marker Score: 336
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 0.55
    Marker Score: 261
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.55
    Marker Score: 271
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.53
    Marker Score: 884
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.52
    Marker Score: 339.5
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.5
    Marker Score: 263
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.49
    Marker Score: 1385
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.48
    Marker Score: 252.5
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.48
    Marker Score: 227.5
  • Cell Name: visceromotor neuron (CL0005025)
    Fold Change: 0.47
    Marker Score: 138
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.46
    Marker Score: 133
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.46
    Marker Score: 9790
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.45
    Marker Score: 141
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.44
    Marker Score: 417
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.44
    Marker Score: 198
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.44
    Marker Score: 532
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.42
    Marker Score: 133
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.41
    Marker Score: 393.5
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 0.38
    Marker Score: 126
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.38
    Marker Score: 378
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.38
    Marker Score: 438
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.38
    Marker Score: 907
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 372
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.35
    Marker Score: 3977
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.34
    Marker Score: 422
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.32
    Marker Score: 3264
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 0.31
    Marker Score: 113
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.31
    Marker Score: 449
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.31
    Marker Score: 82
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 0.31
    Marker Score: 113
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.3
    Marker Score: 134
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.3
    Marker Score: 175
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.29
    Marker Score: 123
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.29
    Marker Score: 94
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 0.28
    Marker Score: 145
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.27
    Marker Score: 340
  • Cell Name: meningeal macrophage (CL0000879)
    Fold Change: 0.27
    Marker Score: 75
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.27
    Marker Score: 84
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.26
    Marker Score: 156
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 0.26
    Marker Score: 250
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.26
    Marker Score: 224
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.23
    Marker Score: 251
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.23
    Marker Score: 273

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Other Information

**Key characteristics:** * KIF5A is a large protein with a molecular weight of approximately 250 kDa. * It belongs to the kinesin family of motor proteins, which are involved in the transport of vesicles and organelles within cells. * KIF5A is a key regulator of the cytoskeletal motor activity in various cell types. * It is involved in the regulation of adaptive immune responses, where it is expressed in retinal ganglion cells and neurons. * It is also involved in cell migration and migration-related processes. **Pathways and functions:** * KIF5A is involved in the adaptive immune system through the regulation of dendritic cell migration and polarization. * It is also involved in the regulation of cell migration and neurite outgrowth. * It is involved in the regulation of the cytoskeletal motor activity in various cell types, including retinal ganglion cells and neurons. * It is involved in the transport of vesicles and organelles within cells. * It is involved in the regulation of protein trafficking, including the sorting and transport of Mhc class II antigens between the endoplasmic reticulum and the cell surface. * It is involved in the metabolism of proteins, including the degradation of damaged or misfolded proteins. * It is involved in the regulation of cell signaling pathways, including the Rho GTPase signaling pathway. **Clinical significance:** * Mutations in KIF5A have been linked to several human diseases, including retinal dystrophies, developmental disorders, and cancer. * KIF5A is a potential therapeutic target for diseases that are characterized by abnormal cytoskeletal motor activity or dysfunction. **Additional notes:** * KIF5A is a highly conserved protein with similar sequences in other vertebrates. * It is a multifunctional protein that can interact with various proteins involved in cytoskeletal regulation, cell signaling, and protein trafficking. * It is a key regulator of cell migration, polarity, and signaling in various cell types.

Genular Protein ID: 3659344230

Symbol: KIF5A_HUMAN

Name: Kinesin heavy chain isoform 5A

UniProtKB Accession Codes:

Q12840 A6H8M5 Q4LE26

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ChEBI 1 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 5 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 24 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 3 PIR 1 PRINTS 1 PRO 1 PROSITE 2 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 5 RefSeq 1 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7514426

Title: Cloning and localization of a conventional kinesin motor expressed exclusively in neurons.

PubMed ID: 7514426

DOI: 10.1016/0896-6273(94)90314-x

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 20386726

Title: Bicaudal D2, dynein, and kinesin-1 associate with nuclear pore complexes and regulate centrosome and nuclear positioning during mitotic entry.

PubMed ID: 20386726

DOI: 10.1371/journal.pbio.1000350

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 25898167

Title: BORC, a multisubunit complex that regulates lysosome positioning.

PubMed ID: 25898167

DOI: 10.1016/j.devcel.2015.02.011

PubMed ID: 12355402

Title: A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).

PubMed ID: 12355402

DOI: 10.1086/344210

PubMed ID: 15452312

Title: Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia.

PubMed ID: 15452312

DOI: 10.1212/01.wnl.0000138731.60693.d2

PubMed ID: 16476820

Title: A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia.

PubMed ID: 16476820

DOI: 10.1001/archneur.63.2.284

PubMed ID: 16489470

Title: Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia.

PubMed ID: 16489470

DOI: 10.1007/s10048-005-0027-8

PubMed ID: 18203753

Title: Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity.

PubMed ID: 18203753

DOI: 10.1093/hmg/ddn014

PubMed ID: 18245137

Title: SPG10 is a rare cause of spastic paraplegia in European families.

PubMed ID: 18245137

DOI: 10.1136/jnnp.2007.137596

PubMed ID: 18853458

Title: Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.

PubMed ID: 18853458

DOI: 10.1002/humu.20920

PubMed ID: 21107874

Title: A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy.

PubMed ID: 21107874

DOI: 10.1007/s10072-010-0445-8

PubMed ID: 24215330

Title: Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.

PubMed ID: 24215330

DOI: 10.1186/1471-2350-14-118

PubMed ID: 27463701

Title: KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction.

PubMed ID: 27463701

DOI: 10.1002/ana.24744

PubMed ID: 27414745

Title: KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy.

PubMed ID: 27414745

DOI: 10.1111/cge.12831

PubMed ID: 29342275

Title: Hot-spot KIF5A mutations cause familial ALS.

PubMed ID: 29342275

DOI: 10.1093/brain/awx370

PubMed ID: 29566793

Title: Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

PubMed ID: 29566793

DOI: 10.1016/j.neuron.2018.02.027

Sequence Information:

  • Length: 1032
  • Mass: 117378
  • Checksum: C4C6C12342040796
  • Sequence:
    • MAETNNECSI KVLCRFRPLN QAEILRGDKF IPIFQGDDSV VIGGKPYVFD RVFPPNTTQE 
QVYHACAMQI VKDVLAGYNG TIFAYGQTSS GKTHTMEGKL HDPQLMGIIP RIARDIFNHI 
YSMDENLEFH IKVSYFEIYL DKIRDLLDVT KTNLSVHEDK NRVPFVKGCT ERFVSSPEEI 
LDVIDEGKSN RHVAVTNMNE HSSRSHSIFL INIKQENMET EQKLSGKLYL VDLAGSEKVS 
KTGAEGAVLD EAKNINKSLS ALGNVISALA EGTKSYVPYR DSKMTRILQD SLGGNCRTTM 
FICCSPSSYN DAETKSTLMF GQRAKTIKNT ASVNLELTAE QWKKKYEKEK EKTKAQKETI 
AKLEAELSRW RNGENVPETE RLAGEEAALG AELCEETPVN DNSSIVVRIA PEERQKYEEE 
IRRLYKQLDD KDDEINQQSQ LIEKLKQQML DQEELLVSTR GDNEKVQREL SHLQSENDAA 
KDEVKEVLQA LEELAVNYDQ KSQEVEEKSQ QNQLLVDELS QKVATMLSLE SELQRLQEVS 
GHQRKRIAEV LNGLMKDLSE FSVIVGNGEI KLPVEISGAI EEEFTVARLY ISKIKSEVKS 
VVKRCRQLEN LQVECHRKME VTGRELSSCQ LLISQHEAKI RSLTEYMQSV ELKKRHLEES 
YDSLSDELAK LQAQETVHEV ALKDKEPDTQ DADEVKKALE LQMESHREAH HRQLARLRDE 
INEKQKTIDE LKDLNQKLQL ELEKLQADYE KLKSEEHEKS TKLQELTFLY ERHEQSKQDL 
KGLEETVARE LQTLHNLRKL FVQDVTTRVK KSAEMEPEDS GGIHSQKQKI SFLENNLEQL 
TKVHKQLVRD NADLRCELPK LEKRLRATAE RVKALEGALK EAKEGAMKDK RRYQQEVDRI 
KEAVRYKSSG KRGHSAQIAK PVRPGHYPAS SPTNPYGTRS PECISYTNSL FQNYQNLYLQ 
ATPSSTSDMY FANSCTSSGA TSSGGPLASY QKANMDNGNA TDINDNRSDL PCGYEAEDQA 
KLFPLHQETA AS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.