Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KIF1A Gene

protein-coding GIFtS: 54
GCID: GC02M241653

kinesin family member 1A

(Previous names: axonal transport of synaptic vesicles, chromosome 2 open...)
(Previous symbols: ATSV, C2orf20, SPG30)

Explore 18 diseases affiliated with
KIF1A via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Kinesin Family Member 1A¹ ²		Chromosome 2 Open Reading Frame 20¹
ATSV¹ ² ³ ⁵		Spastic Paraplegia 30 (Autosomal Recessive)¹
C2orf20¹ ² ³		HSN2C²
SPG30¹ ²		MRD9²
UNC104¹ ²		Kinesin, Heavy Chain, Member 1A, Homolog Of Mouse²
Axonal Transporter Of Synaptic Vesicles² ³		Kinesin-Like Protein KIF1A²
Microtubule-Based Motor KIF1A² ³		Tmp_locus_27¹
Unc-104- And KIF1A-Related Protein² ³		HUnc-104¹
Axonal Transport Of Synaptic Vesicles¹

External Ids:	HGNC: 888¹	Entrez Gene: 547²	Ensembl: ENSG00000130294⁷	OMIM: 601255⁵	UniProtKB: Q12756³

Export aliases for KIF1A gene to outside databases

Previous GC identifers: GC02M241975 GC02M241973 GC02M241373 GC02M233413

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for KIF1A:

The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that

transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic

paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct

isoforms have been described. (provided by RefSeq, Apr 2012)

UniProtKB/Swiss-Prot: KIF1A_HUMAN, Q12756

Function: Motor for anterograde axonal transport of synaptic vesicle precursors (By similarity)

Gene Wiki entry for KIF1A

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_005416.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the KIF1A gene promoter:
Spz1 p300 GATA-1 E47 C/EBPalpha Egr-2 CHOP-10 SRY c-Myb Pax-4a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KIF1A promoter sequence

Search SABiosciences Chromatin IP Primers for KIF1A

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIF1A

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q37.3 Ensembl cytogenetic band: 2q37.3 HGNC cytogenetic band: 2q37.2

KIF1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIF1A gene location

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M241653: view genomic region (about GC identifiers)

Start:	241,653,181 bp from pter	End:	241,759,725 bp from pter
Size:	106,545 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: KIF1A_HUMAN, Q12756 (See protein sequence)

Recommended Name: Kinesin-like protein KIF1A

Size: 1690 amino acids; 191064 Da

Subunit: Monomer. Interacts with PPFIA1 and PPFIA4 (By similarity)

Subcellular location: Cytoplasm, cytoskeleton. Note=Expressed in distal regions of neurites

Sequence caution: Sequence=AAB97363.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=BAE06111.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAE06111.1;

Type=Miscellaneous discrepancy; Note=Probable cloning artifact leading to C-terminal exon with non-canonical splice

junction;

2 PDB 3D structures from and Proteopedia for KIF1A:

4EGX (3D)

4EJQ (3D)

Secondary accessions: B0I1S5 F5H045 O95068 Q13355 Q14752 Q2NKJ6 Q4LE42 Q53T78 Q59GH1 Q63Z40 Q6P1R9

Q7KZ57

Alternative splicing: 3 isoforms: Q12756-1 Q12756-2 Q12756-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KIF1A: NX_Q12756

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q12756

KIF1A Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001230937.1 NP_004312.2

ENSEMBL proteins:

ENSP00000322791 ENSP00000414613 ENSP00000384231 ENSP00000415367 ENSP00000395443

ENSP00000398686 ENSP00000438388

Human Recombinant Protein Products for KIF1A:

	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 KIF1A
	GenScript Custom Purified and Recombinant Proteins Services for KIF1A
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for KIF1A

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005737	cytoplasm	IDA	--
GO:0005874	microtubule	IEA	--
GO:0005875	microtubule associated complex	IEA	--

KIF1A for ontologies About GeneDecksing

KIF1A Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for KIF1A
	GenScript Custom Superior Antibodies Services for KIF1A
	Novus Biologicals KIF1A Antibodies
	Search for Antibodies for KIF1A at Abcam
	Uscn Antibodies for KIF1A
	Search ThermoFisher Antibodies for KIF1A

Assay Products for KIF1A:

	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 KIF1A
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for KIF1A

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

KIF1A for domains About GeneDecksing

5/8 InterPro domains/families (see all 8):

IPR008984 SMAD_FHA_domain

IPR022140 KIF1B

IPR022164 Kinesin-like

IPR001752 Kinesin_motor_dom

IPR001849 Pleckstrin_homology

Graphical View of Domain Structure for InterPro Entry Q12756

ProtoNet protein and cluster: Q12756

3 Blocks protein families:

IPB000253 Forkhead-associated (FHA)

IPB001752 Kinesin

IPB001849 Pleckstrin-like

UniProtKB/Swiss-Prot: KIF1A_HUMAN, Q12756

Similarity: Belongs to the kinesin-like protein family. Unc-104 subfamily

Similarity: Contains 1 FHA domain

Similarity: Contains 1 kinesin-motor domain

Similarity: Contains 1 PH domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: KIF1A_HUMAN, Q12756

Function: Motor for anterograde axonal transport of synaptic vesicle precursors (By similarity)

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003774	motor activity	TAS	7539720
GO:0003777	microtubule motor activity	IEA	--
GO:0005524	ATP binding	IEA	--
GO:0005543	phospholipid binding	IEA	--

KIF1A for ontologies About GeneDecksing

Phenotypes:
5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Kif1a):

behavior/neurological

growth/size

integument

mortality/aging

nervous system

KIF1A for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for KIF1A

miRNA Products:		OriGene 3'-UTR Clone: KIF1A Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KIF1A
		8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate KIF1A (see all 16):
		hsa-miR-631 hsa-miR-657 hsa-miR-944 hsa-miR-1205 hsa-miR-3661 hsa-miR-340 hsa-miR-1184 hsa-miR-641

		Browse SwitchGear 3'UTR luciferase reporter plasmids

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 KIF1A (see all 4) OriGene shRNA RFP: KIF1A OriGene siRNA: KIF1A
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KIF1A
		Sirion Biotech Custom design and validation of potent shRNA sequences against KIF1A

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for KIF1A
			Sirion Biotech Customized adenovirus for overexpression of KIF1A Sirion Biotech Customized adenovirus for potent knockdown of KIF1A

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 KIF1A (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KIF1A OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: KIF1A (NM_004321)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for KIF1A
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KIF1A

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for KIF1A
		Search LifeMap BioReagents cell lines for KIF1A
		Sirion Biotech Customized stable knockdown cell line services for KIF1A Sirion Biotech Customized inducible knockdown cell line services for KIF1A

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIF1A

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for KIF1A

STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

5/15 Interacting proteins for KIF1A (Q12756^{2, 3} ENSP00000322791⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 15)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
KIF1A	Q12756²	MINT-51177 MINT-51179 MINT-51180 MINT-51178
GIT1	Q9Y2X7³, ENSP00000378338⁴	I2D: score=1 STRING: ENSP00000378338
AR	P10275³	I2D: score=2
ESR1	P03372³	I2D: score=2
PPARG	P37231³	I2D: score=2

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007018	microtubule-based movement	--	--
GO:0008089	anterograde axon cargo transport	TAS	7539720
GO:0008219	cell death	IEA	--

KIF1A for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for KIF1A

3 DrugBank Compounds for KIF1A About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Adenosine-5'-Diphosphate	--	20398-34-9	target	--	10592235
Phosphoaminophosphonic Acid-Adenylate Ester	--	--	target	--	10592235
Adenosine-5'-[Beta, Gamma-Methylene]Triphosphate	--	--	target	--	--

Search CenterWatch for drugs/clinical trials and news about KIF1A

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for KIF1A gene (2 alternative transcripts):

NM_001244008.1 NM_004321.6

Unigene Cluster for KIF1A:

Kinesin family member 1A

Hs.516802 [show with all ESTs]

Unigene Representative Sequence: NM_001244008

13 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000460788(uc002vzw.3) ENST00000320389(uc002vzx.3) ENST00000492812

ENST00000488776 ENST00000465813 ENST00000431776 ENST00000404283 ENST00000494452

ENST00000415042 ENST00000463388 ENST00000428768 ENST00000448728 ENST00000498729(uc010fzk.3 uc002vzy.3 uc002vzz.2)

miRNA Products:		OriGene 3'-UTR Clone: KIF1A Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KIF1A
		8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate KIF1A (see all 16):
		hsa-miR-631 hsa-miR-657 hsa-miR-944 hsa-miR-1205 hsa-miR-3661 hsa-miR-340 hsa-miR-1184 hsa-miR-641

		Browse SwitchGear 3'UTR luciferase reporter plasmids

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 KIF1A (see all 4) OriGene shRNA RFP: KIF1A OriGene siRNA: KIF1A
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KIF1A
		Sirion Biotech Custom design and validation of potent shRNA sequences against KIF1A

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KIF1A (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KIF1A OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: KIF1A (NM_004321)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for KIF1A
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KIF1A

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KIF1A Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat KIF1A
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KIF1A
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KIF1A

Additional cDNA sequence:

AB209138.1 AB290172.1 AB621817.1 AF004425.1 AF038173.1 AF052089.1 AK054791.1 AK130880.1

BC009491.2 BC021199.2 BC064906.1 BC111780.1 BC111799.1 L79946.1 U37194.1

19 DOTS entries:

DT.92448356 DT.91732729 DT.414947 DT.91907239 DT.91872857 DT.101959673 DT.121014178 DT.86856190

DT.91941797 DT.100789561 DT.92052097 DT.92060079 DT.100789560 DT.75103560 DT.75140550 DT.92448359

DT.95196805 DT.95319601 DT.102822815

1 AceView cDNA sequence:

NM_004321

GeneLoc Exon Structure

5/12 Alternative Splicing Database (ASD) splice patterns (SP) for KIF1A (see all 12) About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19	^	20a	·	20b	·	20c	^	21	^	22a	·	22b	^	23	^
SP1:
SP2:
SP3:			-		-
SP4:
SP5:

ExUns:	24	^	25	^	26	^	27	^	28a	·	28b	^	29	^	30a	·	30b	^	31a	·	31b	^	32	^	33	^	34	^	35	^	36a	·	36b	^	37a	·	37b	^	38a	·	38b	^	39	^	40	^	41	^	42	^	43	^
SP1:					-																										-								-
SP2:
SP3:
SP4:
SP5:

ExUns:	44a	·	44b	^	45a	·	45b	^	46	^	47	^	48a	·	48b
SP1:	-
SP2:	-
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for KIF1A

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

KIF1A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCATAGCTGC

About this image

KIF1A expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Retina

Eye

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 3 LifeMap Cells

Name

Category

Line H7 (WA07) (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Line H9 (WA09) (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Matrigel embedded cells (Derivation of cardio...)

See KIF1A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KIF1A

SOURCE GeneReport for Unigene cluster: Hs.516802

UniProtKB/Swiss-Prot: KIF1A_HUMAN, Q12756

Tissue specificity: Expressed in neurons

SABiosciences Custom PCR Arrays for KIF1A

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KIF1A Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat KIF1A
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KIF1A
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KIF1A

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIF1A

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for KIF1A gene from 6/23 species (see all 23) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	KIF1A¹	kinesin family member 1A	83.76(n) 92.07(a)		424849 XM_003641734.1 XP_003641782.1
lizard (Anolis carolinensis)	Reptilia	KIF1A⁶	--	86(a)	1 ↔ 1	3(35243783-35325882)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.17627²	Transcribed sequence with moderate similarity to protein spO43896 (H.sapiens) KF1C_HUMAN Kinesin-like protein KIF1C less	76.33(n)		BX700006.1
zebrafish (Danio rerio)	Actinopterygii	kif1a¹	kinesin family member 1A	74.96(n) 85.92(a)		100330443 XM_002662438.2 XP_002662484.2
fruit fly (Drosophila melanogaster)	Insecta	unc-104¹	CG8566-PB	61.36(n) 61.51(a)		36876 NM_137311.4 NP_611155.3
worm (Caenorhabditis elegans)	Secernentea	unc-104¹	Protein UNC-104	53.22(n) 56.21(a)		174144 NM_171017.6 NP_741019.2

ENSEMBL Gene Tree for KIF1A (if available)
TreeFam Gene Tree for KIF1A (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for KIF1A gene

KIF18A² KIF1C² KIF16B² KIF1B² KIF19² KIF14² KIF22² KIF13B²

KIF13A² KIF12² KIF18B²

18/24 SIMAP similar genes for KIF1A using alignment to 7 protein entries: KIF1A_HUMAN (see all proteins) (see all similar genes):

KIF1C KIF1Bbeta KIF1B KIF13A KIF13B KLP6

KIF5C KIF3A KIF5A KIF15 STARD9 KIFC3

KIF2C KIF16B KIF5B KIF6 KIF22 KIF18B

KIF1A for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs755300^1,2	C,F,A,H	--	241652703(+)	`CAGTGT/CGACGC`	2	--	ds500¹		27		NS EA NA WA CSA	2564
rs114767221^1,2	F	--	241652741(+)	`GACAAG/AACTAA`	2	--	ds500¹		1		WA	118
rs182722128^1,2		--	241652751(+)	`AGGCCC/TTCGTG`	2	--	ds500¹		0	--	--	--	--
rs755301^1,2	C,F,A,H	--	241652908(+)	`GTCCCT/CGGGGA`	2	--	ds500¹		10		MN NA WA CSA EA	570
rs10194861^1,2	C	--	241652924(+)	`CTGGGG/ACTGGT`	2	--	ds500¹		3		WA	122
rs78354248^1,2		--	241652945(+)	`GCAACC/TGGTCA`	2	--	ds500¹		1		NA	120
rs138272193^1,2		--	241653008(+)	`GTCTTC/TGACAC`	2	--	ds500¹		0	--	--	--	--
rs112193812^1,2		--	241653017(+)	`ACCTTC/TCCCAC`	2	--	ds500¹		2		CSA WA	120
rs112635046^1,2		--	241653122(+)	`CAGCCA/GTTTTC`	2	--	ds500¹		2		CSA WA	120
rs187797783^1,2		--	241653139(+)	`CCTGCA/GACACA`	2	--	ds500¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for KIF1A (241653181 - 241759725 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 8 variations for KIF1A
     6 CNVs: 63352 30112 63351 68290 29707 50437
     1 Indel: 98188
     1 Inversion: 37221
Human Gene Mutation Database (HGMD): KIF1A

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KIF1A

DNA2.0 Custom Variant and Variant Library Synthesis for KIF1A

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

KIF1A for disorders About GeneDecksing

OMIM gene information: 601255 OMIM disorders: --

UniProtKB/Swiss-Prot: KIF1A_HUMAN, Q12756

Defects in KIF1A are the cause of spastic paraplegia autosomal recessive type 30 (SPG30) [MIM:610357]. SPG30

is 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. SPG30 is characterized by onset in the first or second decades of

unsteady spastic gait and hyperreflexia of the lower limbs

Defects in KIF1A are the cause of hereditary sensory neuropathy type 2C (HSN2C) [MIM:614213]. HSN2C is a

neurodegenerative disorder characterized by onset in the first decade of progressive distal sensory loss leading to

ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily

affecting the lower limbs

Defects in KIF1A are the cause of mental retardation autosomal dominant type 9 (MRD9) [MIM:614255]. Mental

retardation is characterized by significantly below average general intellectual functioning associated with

impairments in adaptative behavior and manifested during the developmental period

18 diseases for KIF1A: About MalaCards

spastic paraplegia spastic paraplegia 30 hereditary sensory neuropathy paraplegia

spasticity neuropathy spastic paraparesis axonal neuropathy

autonomic neuropathy intellectual disability tuberous sclerosis herpes simplex

breast cancer schizophrenia malaria neuronitis

hereditary sensory and autonomic neuropathy type ii ataxia

1 disease from the University of Copenhagen DISEASES database for KIF1A:

Adrenal neuroblastoma

Export disorders for KIF1A gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for KIF1A gene, integrated from 9 sources (see all 51):
(articles sorted by number of sources associating them with KIF1A)

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

Characterization of a kinesin-related gene ATSV, within the tuberous sclerosis locus (TSC1) candidate region on chromosome 9q34. (PubMed id 8661001)^{1, 2, 9} Furlong R.A.... Affara N.A. (1996)
The neuron-specific kinesin superfamily protein KIF1A is a unique monomeric motor for anterograde axonal transport of synaptic vesicle precursors. (PubMed id 7539720)^{1, 3, 9} Okada Y....Hirokawa N. (1995)
KIF1A missense mutations in SPG30, an autosomal recess ive spastic paraplegia: distinct phenotypes according to the nature of the mutat ions. (PubMed id 22258533)^{1, 3} Klebe S....Stevanin G. (2012)
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. (PubMed id 21820098)^{1, 2} Riviere J.B.... Rouleau G.A. (2011)
Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis. (PubMed id 21487076)^{1, 2} Erlich Y.... Elpeleg O. (2011)
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)^{1, 2} Hillier L.W....Wilson R.K. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Mapping of the kinesin-related gene ATSV to chromosome 2q37. (PubMed id 10323250)^{1, 3} Keller M.P....Chance P.F. (1999)
The CC1-FHA tandem as a central hub for controlling th e dimerization and activation of kinesin-3 KIF1A. (PubMed id 22863567)¹ Huo L....Feng W. (2012)
Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)¹ Udeshi N.D....Carr S.A. (2012)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 547	HGNC: 888	AceView: KIF1A	Ensembl:ENSG00000130294	euGenes: HUgn547
ECgene: KIF1A	H-InvDB: KIF1A

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for KIF1A	Pharmacogenomics, SNPs, Pathways

Intellectual Property for KIF1A gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for KIF1A gene:
Search GeneIP for patents involving KIF1A

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section


	EMD Millipore Custom Antibody & Bulk Services
	EMD Millipore Preclinical / Clinical Development Services
	EMD Millipore Immunoassay Services
	EMD Millipore Target Screening & Profiling Services

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Kinase Activity Assays/Reagents
	Browse ELISpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Multiplex/Array Assay Kits/Reagents
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Phosphatase Activity Assays/Reagents		Browse Recombinant/Natural Proteins

	Browse OriGene Antibodies		OriGene shRNA RFP for KIF1A
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KIF1A		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KIF1A
	Browse OriGene Protein Over-expression Lysates		Browse OriGene Fluorogenic Cell Assay Kits
	OriGene siRNA for KIF1A		OriGene 3'-UTR Clone for KIF1A
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KIF1A		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KIF1A
	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
	Browse OriGene basic RS shRNAs		Browse OriGene validated miRNA SYBR primer pairs
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for KIF1A		OriGene Custom Protein Services for KIF1A
	OriGene Custom Immunoassay Development

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat KIF1A
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KIF1A
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIF1A
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KIF1A
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KIF1A
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KIF1A

	GenScript Custom Purified and Recombinant Proteins Services for KIF1A		GenScript cDNA clones with any tag delivered in your preferred vector for KIF1A
	GenScript Custom Assay Services for KIF1A		GenScript Custom Superior Antibodies Services for KIF1A
	GenScript Custom overexpressing Cell Line Services for KIF1A		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in KIF1A promoter
	Search Chromatin IP Primers for KIF1A
	RT² qPCR Primer Assay in human, mouse, rat KIF1A
	Search GNC Networks for KIF1A
	SABiosciences Custom PCR Arrays for KIF1A

Search Tocris compounds for KIF1A

	Browse Sino Biological Proteins and Antibodies
	Browse Sino Biological cDNA Clones
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	KIF1A antibodies

	Search for Antibodies for KIF1A at Abcam
	See all of Abcam's Antibodies, Kits and Proteins for KIF1A
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

KIF1A Proteins, Antibodies, CLIAs, and ELISAs

Search LifeMap BioReagents cell lines for KIF1A

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIF1A

	Browse SwitchGear 3'UTR luciferase reporter plasmids for KIF1A
	SwitchGear Promoter luciferase reporter plasmids for KIF1A

Search ThermoFisher Antibodies for KIF1A

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KIF1A

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for KIF1A

Sirion Biotech Customized:

	stable knockdown cell line services for KIF1A
	inducible knockdown cell line services for KIF1A
	design and validation of potent shRNA sequences against KIF1A
	adenovirus for potent knockdown of KIF1A
	adenovirus for overexpression of KIF1A
	stable overexpressing cell line services
	inducible overexpressing cell line services

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 2013

View Random Gene

Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes KIF1A gene at Home site.

hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4

Advanced Search

Export list of displayed genes

KIF1A Gene

kinesin family member 1A

Aliases
for KIF1A gene

Summaries
for KIF1A gene

Genomic Views
for KIF1A gene

Proteins
for KIF1A gene

Protein Domains /
Families
for KIF1A gene

Function
for KIF1A gene

Pathways & Interactions
for KIF1A gene

Drugs & Compounds
for KIF1A gene

Transcripts
for KIF1A gene

Expression
for KIF1A gene

Orthologs
for KIF1A gene

Paralogs
for KIF1A gene

Genomic Variants
for KIF1A gene

Disorders / Diseases
for KIF1A gene

Publications
for KIF1A gene

External Searches for KIF1A gene

Genome Databases showing KIF1A gene

Other Databases showing KIF1A gene

Specialized Databases showing KIF1A gene

Intellectual Property
for KIF1A gene

Products
for KIF1A gene

View Random Gene

Advanced Search

Export list of displayed genes

KIF1A Gene

kinesin family member 1A

Aliasesfor KIF1A gene

Summariesfor KIF1A gene

Genomic Viewsfor KIF1A gene

Proteinsfor KIF1A gene

Protein Domains /Familiesfor KIF1A gene

Functionfor KIF1A gene

Pathways & Interactionsfor KIF1A gene

Drugs & Compoundsfor KIF1A gene

Transcriptsfor KIF1A gene

Expression for KIF1A gene

Orthologsfor KIF1A gene

Paralogsfor KIF1A gene

Genomic Variantsfor KIF1A gene

Disorders / Diseasesfor KIF1A gene

Publicationsfor KIF1A gene

External Searches for KIF1A gene

Genome Databases showing KIF1A gene

Other Databases showing KIF1A gene

Specialized Databases showing KIF1A gene

Intellectual Propertyfor KIF1A gene

Productsfor KIF1A gene

View Random Gene

Aliases
for KIF1A gene

Summaries
for KIF1A gene

Genomic Views
for KIF1A gene

Proteins
for KIF1A gene

Protein Domains /
Families
for KIF1A gene

Function
for KIF1A gene

Pathways & Interactions
for KIF1A gene

Drugs & Compounds
for KIF1A gene

Transcripts
for KIF1A gene

Expression
for KIF1A gene

Orthologs
for KIF1A gene

Paralogs
for KIF1A gene

Genomic Variants
for KIF1A gene

Disorders / Diseases
for KIF1A gene

Publications
for KIF1A gene

Intellectual Property
for KIF1A gene

Products
for KIF1A gene