Human Gene KIF1C (ENST00000320785.10_4) from GENCODE V47lift37
  Description: kinesin family member 1C (from RefSeq NM_006612.6)
Gencode Transcript: ENST00000320785.10_4
Gencode Gene: ENSG00000129250.12_8
Transcript (Including UTRs)
   Position: hg19 chr17:4,901,245-4,931,696 Size: 30,452 Total Exon Count: 23 Strand: +
Coding Region
   Position: hg19 chr17:4,903,542-4,927,446 Size: 23,905 Coding Exon Count: 21 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:4,901,245-4,931,696)mRNA (may differ from genome)Protein (1103 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KIF1C_HUMAN
DESCRIPTION: RecName: Full=Kinesin-like protein KIF1C;
FUNCTION: Motor required for the retrograde transport of Golgi vesicles to the endoplasmic reticulum. Has a microtubule plus end- directed motility.
SUBUNIT: Monomer (Potential).
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton (Probable).
TISSUE SPECIFICITY: Expressed in all tissues examined, with most abundant expression in heart and skeletal muscle.
PTM: Phosphorylated on tyrosine residues.
SIMILARITY: Belongs to the kinesin-like protein family. Unc-104 subfamily.
SIMILARITY: Contains 1 FHA domain.
SIMILARITY: Contains 1 kinesin-motor domain.
SEQUENCE CAUTION: Sequence=BAA31681.2; Type=Erroneous initiation;

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: KIF1C
Diseases sorted by gene-association score: spastic ataxia 2, autosomal recessive* (1601), spastic ataxia 2* (550), spastic ataxia (46), cutaneous anthrax (12), ataxia (12), orchitis (7)
* = 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: 143.03 RPKM in Muscle - Skeletal
Total median expression: 2026.85 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 -188.90355-0.532 Picture PostScript Text
3' UTR -1829.204250-0.430 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
IPR019821 - Kinesin_motor_CS
IPR001752 - Kinesin_motor_dom
IPR008984 - SMAD_FHA_domain

Pfam Domains:
PF00225 - Kinesin motor domain
PF00498 - FHA domain
PF16183 - Kinesin-associated
PF16796 - Microtubule binding

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

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2G1L - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O43896
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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 orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003723 RNA binding
GO:0003774 motor activity
GO:0003777 microtubule motor activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008017 microtubule binding
GO:0016887 ATPase activity

Biological Process:
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER
GO:0007018 microtubule-based movement
GO:0030705 cytoskeleton-dependent intracellular transport
GO:1990048 anterograde neuronal dense core vesicle transport
GO:1990049 retrograde neuronal dense core vesicle transport

Cellular Component:
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005856 cytoskeleton
GO:0005871 kinesin complex
GO:0005874 microtubule
GO:1904115 axon cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AB014606 - Homo sapiens KIAA0706 mRNA for KIAA0706 protein.
BC034993 - Homo sapiens kinesin family member 1C, mRNA (cDNA clone MGC:33078 IMAGE:5266798), complete cds.
JD128966 - Sequence 109990 from Patent EP1572962.
AK307401 - Homo sapiens cDNA, FLJ97349.
U91329 - Human kinesin-like motor protein KIF1C mRNA, complete cds.
JD544045 - Sequence 525069 from Patent EP1572962.
CU690014 - Synthetic construct Homo sapiens gateway clone IMAGE:100020550 5' read KIF1C mRNA.
AB384512 - Synthetic construct DNA, clone: pF1KA0706, Homo sapiens KIF1C gene for kinesin family member 1C, complete cds, without stop codon, in Flexi system.
KJ893125 - Synthetic construct Homo sapiens clone ccsbBroadEn_02519 KIF1C gene, encodes complete protein.
BC025365 - Homo sapiens kinesin family member 1C, mRNA (cDNA clone IMAGE:3831152), containing frame-shift errors.
JD559142 - Sequence 540166 from Patent EP1572962.
JD209445 - Sequence 190469 from Patent EP1572962.
JD266268 - Sequence 247292 from Patent EP1572962.
JD487814 - Sequence 468838 from Patent EP1572962.
JD094063 - Sequence 75087 from Patent EP1572962.
JD422683 - Sequence 403707 from Patent EP1572962.
JD077598 - Sequence 58622 from Patent EP1572962.
JD219015 - Sequence 200039 from Patent EP1572962.
JD312343 - Sequence 293367 from Patent EP1572962.
JD393645 - Sequence 374669 from Patent EP1572962.
JD226916 - Sequence 207940 from Patent EP1572962.
JD527804 - Sequence 508828 from Patent EP1572962.
JD513973 - Sequence 494997 from Patent EP1572962.
JD069798 - Sequence 50822 from Patent EP1572962.
JD415034 - Sequence 396058 from Patent EP1572962.
JD109226 - Sequence 90250 from Patent EP1572962.
JD109227 - Sequence 90251 from Patent EP1572962.
JD098895 - Sequence 79919 from Patent EP1572962.
JD489293 - Sequence 470317 from Patent EP1572962.
JD499842 - Sequence 480866 from Patent EP1572962.
JD247043 - Sequence 228067 from Patent EP1572962.
BC040307 - Homo sapiens cDNA clone IMAGE:4830091.
JD409681 - Sequence 390705 from Patent EP1572962.
JD497644 - Sequence 478668 from Patent EP1572962.
JD542521 - Sequence 523545 from Patent EP1572962.
JD118075 - Sequence 99099 from Patent EP1572962.
JD118074 - Sequence 99098 from Patent EP1572962.
JD310972 - Sequence 291996 from Patent EP1572962.
JD414672 - Sequence 395696 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O43896 (Reactome details) participates in the following event(s):

R-HSA-983266 Kinesins bind microtubules
R-HSA-6811426 Retrograde COPI vesicles bind kinesin and microtubules
R-HSA-6811423 Retrograde vesicle is tethered at the ER by the NRZ complex and t-SNAREs
R-HSA-983189 Kinesins
R-HSA-6811434 COPI-dependent Golgi-to-ER retrograde traffic
R-HSA-983231 Factors involved in megakaryocyte development and platelet production
R-HSA-8856688 Golgi-to-ER retrograde transport
R-HSA-109582 Hemostasis
R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: D3DTL6, ENST00000320785.1, ENST00000320785.2, ENST00000320785.3, ENST00000320785.4, ENST00000320785.5, ENST00000320785.6, ENST00000320785.7, ENST00000320785.8, ENST00000320785.9, KIAA0706, KIF1C_HUMAN, NM_006612, O43896, O75186, Q5U618, uc317qyh.1, uc317qyh.2
UCSC ID: ENST00000320785.10_4
RefSeq Accession: NM_006612.6
Protein: O43896 (aka KIF1C_HUMAN or KF1C_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene KIF1C:
hsp (Hereditary Spastic Paraplegia Overview)

-  Gene Model Information
  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.