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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KIF1A Gene

protein-coding   GIFtS: 56
GCID: GC02M241653

Kinesin Family Member 1A

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

Aliases
Kinesin Family Member 1A1 2     Spastic Paraplegia 30 (Autosomal Recessive)1
ATSV1 2 3 5     HSN2C2
C2orf201 2 3     MRD92
SPG301 2     UNC1042
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
Axonal Transport Of Synaptic Vesicles1     hUnc-1043
Chromosome 2 Open Reading Frame 201     

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 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 motor activity and phospholipid binding. An important paralog of this gene is KIF3A.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_005416.13  NC_018913.2  
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 plasmidKIF1A 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for KIF1A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q12756

  • KIF1A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KIF1A Protein Expression
    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: 
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    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005871kinesin complex IEA--
    GO:0005874microtubule IEA--
    GO:0005875microtubule associated complex ----

    KIF1A for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    KIF: Kinesins
    PLEKH: Pleckstrin homology (PH) domain containing

    5/9 InterPro protein domains (see all 9):
     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


    KIF1A for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 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): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    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:0005543phospholipid 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:
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM 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 (Q127562, 3 ENSP000003227914) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    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): 3 biological process terms (GO ID links to tree view):    About this table

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

    KIF1A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Adenosine-5'-Diphosphate-- 20398-34-9target--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 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,
    Conferences by KenesGroup, 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, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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)


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    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

    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)      KIF1A embryonic expression: see
    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 
     5/12 selected tissues (see all 12) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Human Astrocytes   
             ganglion/cranial/facial VII   
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 8 entries
             Line H7 (WA07)
             ESI-049   
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             Retina
             Human Retinal Pigment Epithelial Cells (HRPEpiC)   
     
     Epithelium
             Human Renal Epithelial Cells (HREpiC)   
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 2 entries
             autonomic/sympathetic/ganglion   

    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

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    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 7/15 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 83.76(n)
    92.07(a)
      424849  XM_003641734.1  XP_003641782.1 
    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 74.96(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
    KIF3A2  KIF5B2  KIF5C2  KIF1C2  KIF112  KIF16B2  KIF3B2  KIF1B2  
    KIF142  KIF13B2  KIF172  KIF13A2  CENPE2  KIF152  KIF5A2  KIF3C2  
    18/37 SIMAP similar genes for KIF1A using alignment to 7 protein entries:     KIF1A_HUMAN (see all proteins) (see all similar genes):
    KIF1C    KIF1Bbeta    KIF1B    KIF13B    KLP6    KIF5C
    KIF3A    KIF5A    KIF15    STARD9    KIFC3    KIF2C
    KIF16B    KIF5B    KIF6    KIF12    A20    R11

    KIF1A for paralogs           About GeneDecksing



    (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) 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

    10/2620 SNPs in KIF1A are shown (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) 10/41 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601255    OMIM disorders: --

    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
  • Hereditary sensory neuropathy 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 adaptative behavior and manifested
    during the developmental period. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 20 diseases for KIF1A:    About MalaCards
    spastic paraplegia 30    hereditary sensory and autonomic neuropathy type iic    hereditary sensory and autonomic neuropathy type ii    hereditary sensory neuropathy
    adrenal neuroblastoma    autonomic neuropathy    paraplegia    spasticity
    neuropathy    axonal neuropathy    spastic paraparesis    tuberous sclerosis
    intellectual disability    herpes simplex    mental retardation    ataxia
    schizophrenia    neuroblastoma    breast cancer    neuronitis

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

    KIF1A for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    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

    PubMed articles for KIF1A gene, integrated from 9 sources (see all 55):
    (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. (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. (1995)
    3. 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)
    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. (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. (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. (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. (2004)
    8. Mapping of the kinesin-related gene ATSV to chromosome 2q37. (PubMed id 10323250)1, 3 Keller M.P....Chance P.F. (1999)
    9. In vivo optical trapping indicates kinesin's stall for ce is reduced by dynein during intracellular transport. (PubMed id 23404705)1 Blehm B.H....Selvin P.R. (2013)
    10. The CC1-FHA dimer is essential for KIF1A-mediated axon al transport of synaptic vesicles in C. elegans. (PubMed id 23669038)1 Yue Y....Xu T. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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      (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
    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
    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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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