Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



KIF1A Gene

protein-coding   GIFtS: 57
GCID: GC02M241653

Kinesin Family Member 1A

(Previous names: axonal transport of synaptic vesicles, chromosome 2 open...)
(Previous symbols: ATSV, C2orf20, SPG30)
  See KIF1A-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Kinesin Family Member 1A1 2     UNC1042 5
ATSV1 2 3 5     Axonal Transport Of Synaptic Vesicles1
C2orf201 2 3     Chromosome 2 Open Reading Frame 201
SPG301 2 5     Spastic Paraplegia 30 (Autosomal Recessive)1
Axonal Transporter Of Synaptic Vesicles2 3     Kinesin, Heavy Chain, Member 1A, Homolog Of Mouse2
Microtubule-Based Motor KIF1A2 3     Kinesin-Like Protein KIF1A2
Unc-104- And KIF1A-Related Protein2 3     tmp_locus_272
HSN2C2 5     hUnc-1043
MRD92 5     

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

TryGeneCards Plus

Entrez Gene summary for KIF1A Gene:
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)

GeneCards Summary for KIF1A Gene:
KIF1A (kinesin family member 1A) is a protein-coding gene. Diseases associated with KIF1A include spastic paraplegia 30, and hereditary sensory and autonomic neuropathy type iic. GO annotations related to this gene include phospholipid binding and microtubule motor activity. An important paralog of this gene is KIF18A.

UniProtKB/Swiss-Prot: KIF1A_HUMAN, Q12756
Function: Motor for anterograde axonal transport of synaptic vesicle precursors (By similarity)

Gene Wiki entry for KIF1A Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   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 plasmidKIF1A promoter sequence
   Search Chromatin IP Primers for KIF1A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

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)
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

Explore proteomics data for KIF1A at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys670
  • Modification sites at PhosphoSitePlus

  • See KIF1A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001230937.1  NP_004312.2  

    ENSEMBL proteins: 
     ENSP00000322791   ENSP00000414613   ENSP00000384231   ENSP00000415367   ENSP00000395443  
     ENSP00000398686   ENSP00000438388  

    KIF1A Human Recombinant Protein Products:

    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 MassSpec
    OriGene Custom Protein Services for KIF1A
    GenScript Custom Purified and Recombinant Proteins Services for KIF1A
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for KIF1A

     
    Search eBioscience for Proteins for KIF1A 

    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
    Novus Biologicals KIF1A Antibodies
    Search for Antibodies for KIF1A at Abcam
    Cloud-Clone Corp. Antibodies for KIF1A
    Search ThermoFisher Antibodies for KIF1A
    LSBio Antibodies in human, mouse, rat for KIF1A

    KIF1A Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for KIF1A
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for KIF1A
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for KIF1A
    Cloud-Clone Corp. CLIAs for KIF1A
    Search eBioscience for ELISAs for KIF1A 


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

    TryGeneCards Plus
    HGNC Gene Families:
    KIF: Kinesins
    PLEKH: Pleckstrin homology (PH) domain containing

    Selected InterPro protein domains (see all 10):
     IPR008984 SMAD_FHA_domain
     IPR022140 KIF1B
     IPR022164 Kinesin-like
     IPR027417 P-loop_NTPase
     IPR000253 FHA_dom

    Graphical View of Domain Structure for InterPro Entry Q12756

    ProtoNet protein and cluster: Q12756

    3 Blocks protein domains:
    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


    Find genes that share domains with KIF1A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KIF1A_HUMAN, Q12756
    Function: Motor for anterograde axonal transport of synaptic vesicle precursors (By similarity)

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003774motor activity TAS7539720
    GO:0003777microtubule motor activity IEA--
    GO:0005515protein binding ----
    GO:0005524ATP binding IEA--
    GO:0008017microtubule binding IEA--
         
    Find genes that share ontologies with KIF1A           About GenesLikeMe


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Kif1a):
     behavior/neurological  growth/size/body  integument  mortality/aging  nervous system 

    Find genes that share phenotypes with KIF1A           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KIF1A
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for KIF1A

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KIF1A
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KIF1A

    miRNA
    Products:
        
    miRTarBase miRNAs that target KIF1A:
    hsa-mir-149-5p (MIRT045431), hsa-mir-17-5p (MIRT051041), hsa-mir-92a-3p (MIRT049281), hsa-mir-9-5p (MIRT045783), hsa-mir-15a-5p (MIRT051327), hsa-mir-423-3p (MIRT042597), hsa-mir-423-5p (MIRT038023), hsa-mir-652-3p (MIRT039561)

    Block miRNA regulation of human, mouse, rat KIF1A using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for KIF1A
    Predesigned siRNA for gene silencing in human, mouse, rat KIF1A

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for KIF1A

    Clone
    Products:
         
    OriGene clones in human, mouse for KIF1A (see all 6)
    OriGene ORF clones in 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
    Browse ESI BIO Cell Lines and PureStem Progenitors for KIF1A 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIF1A


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    KIF1A_HUMAN, Q12756: Cytoplasm, cytoskeleton. Note=Expressed in distal regions of neurites
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus4
    cytosol3
    endosome1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005737cytoplasm IEA--
    GO:0005871kinesin complex IEA--
    GO:0005874microtubule IEA--
    GO:0043005neuron projection IEA--

    Find genes that share ontologies with KIF1A           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KIF1A
    Interactions:

        Search GeneGlobe Interaction Network for KIF1A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    Selected Interacting proteins for KIF1A (Q127562, 3 ENSP000003227914) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KIF1AQ127562MINT-51177 MINT-51179 MINT-51180 MINT-51178
    GIT1Q9Y2X73, ENSP000003783384I2D: score=1 STRING: ENSP00000378338
    ARP102753I2D: score=2 
    ESR1P033723I2D: score=2 
    PPARGP372313I2D: score=2 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007018microtubule-based movement ----
    GO:0008089anterograde axon cargo transport TAS7539720
    GO:0008152metabolic process TAS7539720
    GO:0008219cell death IEA--

    Find genes that share ontologies with KIF1A           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for KIF1A

    3 DrugBank Compounds for KIF1A    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Adenosine-5'-Diphosphate-- 20398-34-9target--10592235
    Phosphoaminophosphonic Acid-Adenylate Ester-- --target--10592235
    Adenosine-5'-[Beta, Gamma-Methylene]Triphosphate-- --target----



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    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:
         
    Block miRNA regulation of human, mouse, rat KIF1A using miScript Target Protectors
    Selected qRT-PCR 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:
         
    OriGene RNAi products in human, mouse, rat for KIF1A
    Predesigned siRNA for gene silencing in human, mouse, rat KIF1A
    Clone
    Products:
         
    OriGene clones in human, mouse for KIF1A (see all 6)
    OriGene ORF clones in 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 qSTAR qPCR primer pairs in human, mouse for KIF1A
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KIF1A
      QuantiTect SYBR Green Assays in human, mouse, rat KIF1A
      QuantiFast Probe-based Assays in human, mouse, rat KIF1A

    Additional mRNA 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

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    KIF1A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCATAGCTGC
    KIF1A Expression
    About this image


    KIF1A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 4 entries
             Line H9 (Naive)
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    KIF1A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KIF1A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.516802

    UniProtKB/Swiss-Prot: KIF1A_HUMAN, Q12756
    Tissue specificity: Expressed in neurons

        Custom PCR Arrays for KIF1A
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for KIF1A
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KIF1A
    QuantiTect SYBR Green Assays in human, mouse, rat KIF1A
    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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for KIF1A gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kif1a1 , 5 kinesin family member 1A1, 5 89.17(n)1
    97.63(a)1
      1 (46.74 cM)5
    165601  NM_008440.31  NP_032466.21 
     930154565 
    chicken
    (Gallus gallus)
    Aves KIF1A1 kinesin family member 1A 85.45(n)
    95.93(a)
      424849  XM_003641733.2  XP_003641781.1 
    lizard
    (Anolis carolinensis)
    Reptilia KIF1A6
    kinesin family member 1A
    92(a)
    1 ↔ 1
    3(35194294-35325882)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.176272 Transcribed sequence with moderate similarity to protein more 76.33(n)    BX700006.1 
    zebrafish
    (Danio rerio)
    Actinopterygii kif1a1 kinesin family member 1A 74.48(n)
    85.02(a)
      100330443  XM_005165945.1  XP_005166002.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta unc-1041 unc-104 61.15(n)
    61.09(a)
      36876  NM_001259444.1  NP_001246373.1 
    worm
    (Caenorhabditis elegans)
    Secernentea unc-1041 unc-104 52.68(n)
    55.24(a)
      174144  NM_001026870.4  NP_001022041.1 


    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

    TryGeneCards Plus
    Paralogs for KIF1A gene
    KIF18A2  KIF16B2  KIF1C2  STARD92  KIF1B2  KIF192  KIF142  KIF222  
    KIF13B2  KIF13A2  KIF18B2  
    Selected SIMAP similar genes for KIF1A using alignment to 7 protein entries:     KIF1A_HUMAN (see all proteins) (see all similar genes):
    KIF1C    KIF1Bbeta    KIF1B    KIF13B    KIF28P    KIF5C
    KIF3A    KIF5A    KIF15    STARD9    KIFC3    KIF2C
    KIF16B    KIF5B    KIF6    KIF12    A20    R11

    Find genes that share paralogs with KIF1A           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for KIF1A (see all 2620)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0666504
    Spastic paraplegia 30, autosomal recessive (SPG30)4--see VAR_0666502 A V mis40--------
    VAR_0666494
    Mental retardation, autosomal dominant 9 (MRD9)4--see VAR_0666492 T M mis40--------
    rs7553001,2
    C,F,A,H--241017076(+) CAGTGT/CGACGC 2 -- ds500127Minor allele frequency- C:0.43NS EA NA WA CSA 2564
    rs1147672211,2
    F--241017114(+) GACAAG/AACTAA 2 -- ds50011Minor allele frequency- A:0.03WA 118
    rs1827221281,2
    --241017124(+) AGGCCC/TTCGTG 2 -- ds50010--------
    rs7553011,2
    C,F,A,H--241017281(+) GTCCCT/CGGGGA 2 -- ds500110Minor allele frequency- C:0.20MN NA WA CSA EA 570
    rs101948611,2
    C--241017297(+) CTGGGG/ACTGGT 2 -- ds50013Minor allele frequency- A:0.21WA 122
    rs783542481,2
    C,F--241017318(+) GCAACC/TGGTCA 2 -- ds50011Minor allele frequency- T:0.01NA 120
    rs1382721931,2
    --241017381(+) GTCTTC/TGACAC 2 -- ds50010--------
    rs1121938121,2
    C,F--241017390(+) ACCTTC/TCCCAC 2 -- ds50012Minor allele frequency- T:0.04CSA WA 120

    HapMap Linkage Disequilibrium report for KIF1A (241653181 - 241759725 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for KIF1A (see all 41):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2721952CNV Deletion23290073
    esv2721950CNV Deletion23290073
    esv2662727CNV Deletion23128226
    esv2659889CNV Deletion23128226
    esv2721953CNV Deletion23290073
    esv1477251CNV Insertion17803354
    esv1760899CNV Insertion17803354
    esv2568669CNV Insertion19546169
    nsv512790CNV Insertion21212237
    esv23353CNV Loss19812545

    Human Gene Mutation Database (HGMD): KIF1A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers 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

    TryGeneCards Plus
    OMIM gene information: 601255   
    OMIM disorders: 610357  614213  614255  
    UniProtKB/Swiss-Prot: KIF1A_HUMAN, Q12756
  • Spastic paraplegia 30, autosomal recessive (SPG30) [MIM:610357]: 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Neuropathy, hereditary sensory, 2C (HSN2C) [MIM:614213]: 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. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Mental retardation, autosomal dominant 9 (MRD9) [MIM:614255]: A disorder characterized by significantly
    below average general intellectual functioning associated with impairments in adaptive behavior and manifested
    during the developmental period. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 10 diseases for KIF1A:    
    About MalaCards
    spastic paraplegia 30    hereditary sensory and autonomic neuropathy type iic    neuropathy, hereditary sensory, type iic    spastic paraplegia 30, autosomal recessive
    hereditary sensory and autonomic neuropathy type ii    adrenal neuroblastoma    mental retardation, autosomal dominant 10    autonomic neuropathy
    hereditary sensory neuropathy    neuropathy

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

    Find genes that share disorders with KIF1A           About GenesLikeMe

    Genetic Association Database (GAD): KIF1A

    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

    TryGeneCards Plus

    PubMed articles for KIF1A gene, integrated from 10 sources (see all 56):
    (articles sorted by number of sources associating them with KIF1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (Genomics 1996)
    2. 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. (Cell 1995)
    3. KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations. (PubMed id 22258533)1, 3 Klebe S....Stevanin G. (Eur. J. Hum. Genet. 2012)
    4. 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. (Am. J. Hum. Genet. 2011)
    5. 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. (Genome Res. 2011)
    6. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    7. 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. (Genome Res. 2004)
    8. Mapping of the kinesin-related gene ATSV to chromosome 2q37. (PubMed id 10323250)1, 3 Keller M.P....Chance P.F. (Hum. Genet. 1999)
    9. In vivo optical trapping indicates kinesin's stall force is reduced by dynein during intracellular transport. (PubMed id 23404705)1 Blehm B.H....Selvin P.R. (Proc. Natl. Acad. Sci. U.S.A. 2013)
    10. The CC1-FHA dimer is essential for KIF1A-mediated axonal transport of synaptic vesicles in C. elegans. (PubMed id 23669038)1 Yue Y....Xu T. (Biochem. Biophys. Res. Commun. 2013)

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

    TryGeneCards Plus
     ANDOR
    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

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

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

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

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for KIF1A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot 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 Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for KIF1A  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for KIF1A  
     OriGene qSTAR qPCR primer pairs in human, mouse for KIF1A   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for KIF1A   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for KIF1A   OriGene Custom Protein Services for KIF1A  

     
     
     Block miRNA regulation of human, mouse, rat KIF1A using miScript Target Protectors SeqTarget long-range PCR primers for resequencing KIF1A
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KIF1A Predesigned siRNA for gene silencing in human, mouse, rat KIF1A
     QuantiFast Probe-based Assays in human, mouse, rat KIF1A QuantiTect SYBR Green Assays in human, mouse, rat KIF1A
     Custom PCR Arrays for KIF1A Search Chromatin IP Primers for KIF1A
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KIF1A  Search GeneGlobe Interaction Network for KIF1A
     Regulatory tfbs in KIF1A promoter
     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 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

     Search Tocris compounds for KIF1A
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     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
     Proteins for KIF1A
     Antibodies for KIF1A
     ELISAs for KIF1A
     CLIAs for KIF1A



     Browse ESI BIO Cell Lines and PureStem Progenitors 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: Let us create your new Knockout/Knockin mouse model for KIF1A
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for KIF1A
     LSBio Antibodies in human, mouse, rat for KIF1A
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for KIF1A
      Search eBioscience for proteins for KIF1A
      Search eBioscience for elisas for KIF1A
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 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 


    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.
    Version: 3.12.224 13 Oct 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4