KIF5A Gene

Aliases
for KIF5A gene

Previous GC identifers: GC12M059133 GC12P058087 GC12P057660 GC12P056230 GC12P054981

Summaries
for KIF5A gene

Genomic Views
for KIF5A gene

RefSeq DNA sequence:

NC_000012.11  NC_018923.1  NT_029419.12  

SwitchGear Promoter luciferase reporter plasmid: KIF5A promoter sequence

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIF5A

KIF5A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P057943:  view genomic region     (about GC identifiers)

Proteins
for KIF5A gene

Explore the universe of human proteins at neXtProt for KIF5A: NX_Q12840

Post-translational modifications:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom Protein Services for KIF5A
	GenScript Custom Purified and Recombinant Proteins Services for KIF5A
	Novus Biologicals KIF5A Proteins
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for KIF5A

Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

	EMD Millipore Mono- and Polyclonal Antibodies for the study of KIF5A
	Browse R&D Systems for Antibodies
	OriGene Antibodies (see all 2): KIF5A OriGene Custom Antibody Services for KIF5A
	GenScript Custom Superior Antibodies Services for KIF5A
	Novus Biologicals KIF5A Antibodies
	Search for Antibodies for KIF5A at Abcam
	Uscn Antibodies for KIF5A
	ThermoFisher Antibody for KIF5A

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for KIF5A
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for KIF5A

Protein Domains /
Families
for KIF5A gene

ProtoNet protein and cluster: Q12840

Function
for KIF5A gene

miRNA Products:		OriGene 3'-UTR Clone: KIF5A Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KIF5A
		8/37 QIAGEN miScript miRNA Assays for microRNAs that regulate KIF5A (see all 37):
		hsa-miR-21* hsa-miR-642a hsa-miR-15a hsa-miR-106a hsa-miR-503 hsa-miR-138-2* hsa-miR-519a hsa-miR-424
		SwitchGear 3'UTR luciferase reporter plasmid: KIF5A 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KIF5A (see all 7) OriGene shRNA RFP: KIF5A OriGene siRNA: KIF5A
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KIF5A

Gene Editing Products:

DNA2.0 Custom Protein Engineering Service for KIF5A

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KIF5A (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KIF5A OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: KIF5A (NM_004984)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KIF5A

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for KIF5A
		Search LifeMap BioReagents cell lines for KIF5A

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIF5A

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

(inferred from 2 alleles) (MGI details for Kif5a)

Pathways & Interactions
for KIF5A gene

	Super-pathway	contained gene-specific pathways
1	Cytoskeleton remodeling Neurofilaments	Cytoskeleton remodeling Neurofilaments 1.00 Cytoplasmic microtubules 0.32 Cytoskeleton remodeling_Neurofilaments 0.91
2	Immune System	Immune System 1.00 Adaptive Immune System 0.59
3	Kinesins	Kinesins 1.00 Kinesins move along microtubules consuming ATP 0.95
4	MHC class II antigen presentation	MHC class II antigen presentation 1.00 Transport of antigen loaded MHC II molecules to surface 0.59
5	Factors involved in megakaryocyte development and platelet production	Factors involved in megakaryocyte development and platelet production 1.00

2 EMD Millipore Pathways for KIF5A

	Cytoskeleton remodeling Neurofilaments
	Cytoplasmic microtubules

1 GeneGo (Thomson Reuters) Pathway for KIF5A

Cytoskeleton remodeling Neurofilaments

5/8        Reactome Pathways for KIF5A

	Hemostasis
	Adaptive Immune System
	Transport of antigen loaded MHC II molecules to surface
	Kinesins move along microtubules consuming ATP
	Factors involved in megakaryocyte development and platelet production

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

Drugs & Compounds
for KIF5A gene

Transcripts
for KIF5A gene

Expression
for KIF5A gene

KIF5A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCAGCGTGGA

6 LifeMap In Vivo Development Anatomical Compartments/Cells
	Tissue Anatomical Compartment Cell			Category (developmental path)
	BoneEndochondral Facial Bones			Bone
	BoneStylopod Long Bone			Bone
	BoneThoracic Rib			Bone
	BoneZeugopod Long Bone			Bone
	CartilageMeckel's Cartilage			Cartilage
	EyeRetina			Eye
Expression: Positive    Negative     Selective marker Experimental details: Curated     Microarrays     In-situ hybridization
Stem Cell Differentiation: 1 LifeMap Cell
	Name			Category
	Matrigel embedded cells (Derivation of cardio...)

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KIF5A Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT2 qPCR Primer Assay in human, mouse, rat KIF5A
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KIF5A
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KIF5A

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIF5A

Orthologs
for KIF5A gene

Paralogs
for KIF5A gene

Paralogs for KIF5A gene

KIF5C²  KIF21A²  KIF11²  KIF3B²  KIF21B²  KIF9²  KIF17²  KIF4B²  

KIF27²  KIF3A²  KIF4A²  KIF5B²  KIF6²  KIF15²  CENPE²  KIF7²  

KIF3C²  

18/30 SIMAP similar genes for KIF5A using alignment to 4 protein entries:     KIF5A_HUMAN (see all proteins) (see all similar genes):

KIF5B    KIF5C    KIF5B-ALK    DKFZp566O183    Nbla04137    KIF9

KIF1A    KIF18B    KIF13B    KIF3A    CENPE    KIF13A

KIF1Bbeta    KIFC3    KIF17    KIF22    KLP6    KIF16B

KIF5A for paralogs           About GeneDecksing

Genomic Variants
for KIF5A gene

10/555 NCBI SNPs in KIF5A are shown (see all 555)     About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs1214344441,2	C,	pathogenic	57963431(+)	GATTGC/TGAAGC	2	A V	mis1		0	--	--	--	--
rs1402816781,2	C,F	other	57970617(+)	AACACG/AAGAAG	2	/K /E	mis1		2		NA EU	5873
rs751073511,2	F,	--	57941906(+)	AGTCAC/TCCTAT	4	--	us2k1		1		NA	120
rs1393810871,2		--	57942000(+)	AAATTC/TCATCG	4	--	us2k1		0	--	--	--	--
rs128249071,2	C,F,H,	--	57942106(+)	ACCATC/GATTAC	4	--	us2k1		15		NS EA NA	1076
rs111722461,2	H,	--	57942283(+)	GAAACC/GCCTTT	4	--	us2k1		4		NS EA	412
rs7038411,2	C,F,A,H,	--	57942305(+)	CACCTT/GGGAGC	4	--	us2k1		13		MN NS NA WA	1892
rs1912284401,2		--	57942398(+)	CCAAGC/TGACTA	4	--	us2k1		0	--	--	--	--
rs1431961901,2		--	57942420(+)	AGTTCA/GGAACT	4	--	us2k1		0	--	--	--	--
rs781630071,2	C,	--	57942554(+)	GGTTAG/AAGGTG	4	--	us2k1		2		CSA WA	120

HapMap Linkage Disequilibrium report for KIF5A (57943781 - 57980415 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for KIF5A
     2 CNVs: 30603 3891
Human Gene Mutation Database (HGMD): KIF5A

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KIF5A

DNA2.0 Custom Variant and Variant Library Synthesis for KIF5A

Disorders / Diseases
for KIF5A gene

15 diseases for KIF5A

2 Novoseek disease relationships for KIF5A gene    About this table

Publications
for KIF5A gene

PubMed articles for KIF5A gene, integrated from 9 sources (see all 52): (articles sorted by number of sources associating them with KIF5A)

Utopia: connect your pdf to the dynamic world of online information

1. Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia. (PubMed id 16489470)^{1, 2, 3, 9} Blair M.A.... Hedera P. (2006)
2. Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. (PubMed id 18853458)^{1, 2, 9} Goizet C....Brice A. (2009)
3. Assignment of GALGT encoding beta-1, 4N-acetylgalactosaminyl-transferase (GalNAc-T) and KIF5A encoding neuronal kinesin (D12S1889) to human chromosome band 12q13 by assignment to ICI YAC 26EG10 and in situ hybridization. medjph@stjames.leeds.ac.uk. (PubMed id 9858832)^{1, 3, 9} Hamlin P.J....Robinson P.A. (1998)
4. Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity. (PubMed id 18203753)^{1, 2, 9} Ebbing B....Woehlke G. (2008)
5. Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia. (PubMed id 15452312)^{1, 2, 9} Fichera M.... Neri M. (2004)
6. A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy. (PubMed id 21107874)^{1, 2} Musumeci O.... Toscano A. (2011)
7. SPG10 is a rare cause of spastic paraplegia in European families. (PubMed id 18245137)^{1, 2} Schule R....Schols L. (2008)
8. A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). (PubMed id 12355402)^{1, 2} Reid E.... Marchuk D.A. (2002)
9. A new locus for autosomal dominant 'pure' hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity. (PubMed id 10441583)^{1, 3} Reid E....Rubinsztein D.C. (1999)
10. Cloning and localization of a conventional kinesin motor expressed exclusively in neurons. (PubMed id 7514426)^{1, 2} Niclas J.... Vale R.D. (1994)

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Products
for KIF5A gene