Human Gene KIF1A (uc010fzk.3)
  Description: Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.
RefSeq Summary (NM_001244008): 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]. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on manual assertion, conservation ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr2:241,653,181-241,759,725 Size: 106,545 Total Exon Count: 49 Strand: -
Coding Region
   Position: hg19 chr2:241,656,781-241,737,169 Size: 80,389 Coding Exon Count: 48 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:241,653,181-241,759,725)mRNA (may differ from genome)Protein (1791 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMalacardsMGIOMIM
PubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: F5H045_HUMAN
DESCRIPTION: SubName: Full=Kinesin-like protein KIF1A;
SIMILARITY: Belongs to the kinesin-like protein family.
SIMILARITY: Contains 1 PH domain.
SIMILARITY: Contains 1 kinesin-motor domain.
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): KIF1A
CDC HuGE Published Literature: KIF1A
Positive Disease Associations: Forced Expiratory Volume , Hemoglobin A, Glycosylated , Prostatic Neoplasms
Related Studies:
  1. Forced Expiratory Volume
    , , . [PubMed 0]
  2. Hemoglobin A, Glycosylated
    Andrew D Paterson et al. Diabetes 2010, A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose., Diabetes. [PubMed 19875614]
    A major locus for A1C and glucose in individuals with diabetes is near SORCS1. This may influence the design and analysis of genetic studies attempting to identify risk factors for long-term diabetic complications.
  3. Hemoglobin A, Glycosylated
    Andrew D Paterson et al. Diabetes 2010, A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose., Diabetes. [PubMed 19875614]
    A major locus for A1C and glucose in individuals with diabetes is near SORCS1. This may influence the design and analysis of genetic studies attempting to identify risk factors for long-term diabetic complications.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: KIF1A
Diseases sorted by gene-association score: spastic paraplegia 30, autosomal recessive* (1298), neuropathy, hereditary sensory, type iic* (900), peho syndrome* (543), hereditary sensory and autonomic neuropathy type iic* (500), neuropathy, hereditary sensory and autonomic, type ii* (433), hereditary spastic paraplegia* (415), troyer syndrome* (283), neuropathy, hereditary sensory, with spastic paraplegia* (231), spastic paraplegia 7, autosomal recessive* (231), infantile-onset ascending hereditary spastic paralysis* (231), spastic paraplegia 30* (151), autosomal dominant non-syndromic intellectual disability* (101), paraplegia (19), spasticity (12), adrenal neuroblastoma (7), charcot-marie-tooth disease, axonal, type 2k (6), shprintzen-goldberg syndrome (6), spastic paraparesis (5), neuropathy (5), insensitivity to pain, congenital (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 179.34 RPKM in Brain - Cortex
Total median expression: 1629.83 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -132.60247-0.537 Picture PostScript Text
3' UTR -1627.633600-0.452 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000253 - FHA_dom
IPR022140 - KIF1B
IPR022164 - Kinesin-like
IPR019821 - Kinesin_motor_CS
IPR001752 - Kinesin_motor_dom
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology
IPR008984 - SMAD_FHA_domain

Pfam Domains:
PF00169 - PH domain
PF00225 - Kinesin motor domain
PF00498 - FHA domain
PF12423 - Kinesin protein 1B
PF12473 - Kinesin protein
PF16183 - Kinesin-associated
PF16796 - Microtubule binding

SCOP Domains:
49879 - SMAD/FHA domain
50729 - PH domain-like
52540 - P-loop containing nucleoside triphosphate hydrolases

ModBase Predicted Comparative 3D Structure on F5H045
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserNo orthologNo ortholog
 Gene Details Gene Details  
 Gene Sorter Gene Sorter  
 RGDEnsemblFlyBase  
 Protein SequenceProtein SequenceProtein Sequence  
 AlignmentAlignmentAlignment  

-  Descriptions from all associated GenBank mRNAs
  AB290172 - Homo sapiens mRNA for KIF1A variant protein, complete cds.
AB210029 - Homo sapiens mRNA for KIF1A variant protein, partial cds, clone: hh05223.
X90840 - H.sapiens mRNA for axonal transporter of synaptic vesicles.
AK307119 - Homo sapiens cDNA, FLJ97067.
BC111780 - Homo sapiens kinesin family member 1A, mRNA (cDNA clone MGC:133286 IMAGE:40037563), complete cds.
BC111799 - Homo sapiens kinesin family member 1A, mRNA (cDNA clone MGC:133285 IMAGE:40037561), complete cds.
AB384678 - Synthetic construct DNA, clone: pF1KB0051, Homo sapiens KIF1A gene for kinesin family member 1A, complete cds, without stop codon, in Flexi system.
AB587531 - Synthetic construct DNA, clone: pF1KE0700, Homo sapiens KIF1A gene for kinesin family member 1A, without stop codon, in Flexi system.
KJ534874 - Homo sapiens clone KIF1A_iso-B_adult-A14 kinesin family member 1A isoform B (KIF1A) mRNA, partial cds, alternatively spliced.
KJ534875 - Homo sapiens clone KIF1A_iso-A_fetal-F13 kinesin family member 1A isoform A (KIF1A) mRNA, partial cds, alternatively spliced.
KJ534994 - Homo sapiens clone KIF1A_iso-D_fetal-F03 kinesin family member 1A isoform D (KIF1A) mRNA, complete cds, alternatively spliced.
KJ535053 - Homo sapiens clone KIF1A_iso-C_fetal-F05 kinesin family member 1A isoform C (KIF1A) mRNA, complete cds, alternatively spliced.
BX537556 - Homo sapiens mRNA; cDNA DKFZp686N1746 (from clone DKFZp686N1746).
BX649015 - Homo sapiens mRNA; cDNA DKFZp686I2094 (from clone DKFZp686I2094).
AB209138 - Homo sapiens mRNA for axonal transport of synaptic vesicles variant protein.
BC021199 - Homo sapiens kinesin family member 1A, mRNA (cDNA clone IMAGE:3944595).
BC009491 - Homo sapiens cDNA clone IMAGE:3936963.
AK054791 - Homo sapiens cDNA FLJ30229 fis, clone BRACE2001892.
JD498396 - Sequence 479420 from Patent EP1572962.
JD559547 - Sequence 540571 from Patent EP1572962.
JD415888 - Sequence 396912 from Patent EP1572962.
JD098497 - Sequence 79521 from Patent EP1572962.
JD440462 - Sequence 421486 from Patent EP1572962.
JD457969 - Sequence 438993 from Patent EP1572962.
JD484258 - Sequence 465282 from Patent EP1572962.
JD565747 - Sequence 546771 from Patent EP1572962.
JD148440 - Sequence 129464 from Patent EP1572962.
JD021675 - Sequence 2699 from Patent EP1572962.
JD034280 - Sequence 15304 from Patent EP1572962.
JD162227 - Sequence 143251 from Patent EP1572962.
JD363710 - Sequence 344734 from Patent EP1572962.
JD422149 - Sequence 403173 from Patent EP1572962.
JD334735 - Sequence 315759 from Patent EP1572962.
JD340571 - Sequence 321595 from Patent EP1572962.
JD189107 - Sequence 170131 from Patent EP1572962.
JD146056 - Sequence 127080 from Patent EP1572962.
JD542454 - Sequence 523478 from Patent EP1572962.
JD234631 - Sequence 215655 from Patent EP1572962.
JD540237 - Sequence 521261 from Patent EP1572962.
JD310339 - Sequence 291363 from Patent EP1572962.
JD062464 - Sequence 43488 from Patent EP1572962.
JD545071 - Sequence 526095 from Patent EP1572962.
JD020565 - Sequence 1589 from Patent EP1572962.
JD023045 - Sequence 4069 from Patent EP1572962.
JD029689 - Sequence 10713 from Patent EP1572962.
JD022834 - Sequence 3858 from Patent EP1572962.
JD022835 - Sequence 3859 from Patent EP1572962.
JD033774 - Sequence 14798 from Patent EP1572962.
JD338986 - Sequence 320010 from Patent EP1572962.
JD187849 - Sequence 168873 from Patent EP1572962.
JD422851 - Sequence 403875 from Patent EP1572962.
JD140818 - Sequence 121842 from Patent EP1572962.
JD462066 - Sequence 443090 from Patent EP1572962.
JD231077 - Sequence 212101 from Patent EP1572962.
JD525393 - Sequence 506417 from Patent EP1572962.
JD170321 - Sequence 151345 from Patent EP1572962.
JD390936 - Sequence 371960 from Patent EP1572962.
JD253664 - Sequence 234688 from Patent EP1572962.
JD464921 - Sequence 445945 from Patent EP1572962.
JD479803 - Sequence 460827 from Patent EP1572962.
DQ579144 - Homo sapiens piRNA piR-47256, complete sequence.
JD347199 - Sequence 328223 from Patent EP1572962.
JD449509 - Sequence 430533 from Patent EP1572962.
JD279628 - Sequence 260652 from Patent EP1572962.
JD368110 - Sequence 349134 from Patent EP1572962.
JD370174 - Sequence 351198 from Patent EP1572962.
JD498211 - Sequence 479235 from Patent EP1572962.
JD365339 - Sequence 346363 from Patent EP1572962.
JD563569 - Sequence 544593 from Patent EP1572962.
JD527247 - Sequence 508271 from Patent EP1572962.
JD349248 - Sequence 330272 from Patent EP1572962.
JD487250 - Sequence 468274 from Patent EP1572962.
JD483135 - Sequence 464159 from Patent EP1572962.
JD229502 - Sequence 210526 from Patent EP1572962.
JD343168 - Sequence 324192 from Patent EP1572962.
JD408709 - Sequence 389733 from Patent EP1572962.
JD135001 - Sequence 116025 from Patent EP1572962.
JD467242 - Sequence 448266 from Patent EP1572962.
JD054085 - Sequence 35109 from Patent EP1572962.
JD329743 - Sequence 310767 from Patent EP1572962.
JD348240 - Sequence 329264 from Patent EP1572962.
JD042670 - Sequence 23694 from Patent EP1572962.
JD348254 - Sequence 329278 from Patent EP1572962.
JD279329 - Sequence 260353 from Patent EP1572962.
JD423161 - Sequence 404185 from Patent EP1572962.
JD403203 - Sequence 384227 from Patent EP1572962.
JD242057 - Sequence 223081 from Patent EP1572962.
JD148850 - Sequence 129874 from Patent EP1572962.
AF038173 - Homo sapiens clone 23723 axonal transporter of synaptic vesicles (ATSV) mRNA, partial cds.
AF052089 - Homo sapiens clone 23630 and 23737 mRNA sequences.
AK297530 - Homo sapiens cDNA FLJ61319 complete cds, highly similar to Kinesin-like protein KIF1A.
L79946 - Homo sapiens clone 25553 unknown (HUNC-104) mRNA, partial cds.
AK130880 - Homo sapiens cDNA FLJ27370 fis, clone UBA03786, highly similar to Kinesin-like protein KIF1A.
JD282363 - Sequence 263387 from Patent EP1572962.
JD556705 - Sequence 537729 from Patent EP1572962.
JD116454 - Sequence 97478 from Patent EP1572962.
JD132750 - Sequence 113774 from Patent EP1572962.
JD475072 - Sequence 456096 from Patent EP1572962.
JD416463 - Sequence 397487 from Patent EP1572962.
U37194 - Human UNC-104- and KIF1A-related protein mRNA, partial cds.
DQ575219 - Homo sapiens piRNA piR-43331, complete sequence.
BC064906 - Homo sapiens kinesin family member 1A, mRNA (cDNA clone IMAGE:6025756), partial cds.
AF004425 - Homo sapiens microtubule-based motor (HsKIF1A) mRNA, partial cds.
AB621817 - Homo sapiens KIF1A mRNA for kinesin-like protein KIF1A, partial cds, clone: HP07897-RBdS014C08.
JD320736 - Sequence 301760 from Patent EP1572962.
MN897723 - Homo sapiens kinesin family member 1A (KIF1A) mRNA, partial cds.

-  Other Names for This Gene
  Alternate Gene Symbols: F5H045, F5H045_HUMAN, NM_001244008, NP_001230937, uc002vzy.3
UCSC ID: uc010fzk.3
RefSeq Accession: NM_001244008
Protein: F5H045 CCDS: CCDS58757.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene KIF1A:
hsan2 (Hereditary Sensory and Autonomic Neuropathy Type II)
hsp (Hereditary Spastic Paraplegia Overview)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001244008.1
exon count: 49CDS single in 3' UTR: no RNA size: 9233
ORF size: 5376CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 10586.50frame shift in genome: no % Coverage: 99.89
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.