Human Gene KIF5C (ENST00000435030.6) from GENCODE V44
  Description: Homo sapiens kinesin family member 5C (KIF5C), transcript variant 1, mRNA. (from RefSeq NM_004522)
RefSeq Summary (NM_004522): The protein encoded by this gene is a kinesin heavy chain subunit involved in the transport of cargo within the central nervous system. The encoded protein, which acts as a tetramer by associating with another heavy chain and two light chains, interacts with protein kinase CK2. Mutations in this gene have been associated with complex cortical dysplasia with other brain malformations-2. Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Jul 2015].
Gencode Transcript: ENST00000435030.6
Gencode Gene: ENSG00000168280.18
Transcript (Including UTRs)
   Position: hg38 chr2:148,875,227-149,026,759 Size: 151,533 Total Exon Count: 26 Strand: +
Coding Region
   Position: hg38 chr2:148,875,618-149,011,676 Size: 136,059 Coding Exon Count: 25 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:148,875,227-149,026,759)mRNA (may differ from genome)Protein (957 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGImyGene2
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: KIF5C_HUMAN
DESCRIPTION: RecName: Full=Kinesin heavy chain isoform 5C; AltName: Full=Kinesin heavy chain neuron-specific 2;
FUNCTION: Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport.
SUBUNIT: Oligomer composed of two heavy chains and two light chains. Interacts with GRIP1 and KLC3 (By similarity). Interacts with TRAK1.
INTERACTION: P68400:CSNK2A1; NbExp=4; IntAct=EBI-717170, EBI-347804; P19784:CSNK2A2; NbExp=4; IntAct=EBI-717170, EBI-347451; Q8IXI2:RHOT1; NbExp=2; IntAct=EBI-717170, EBI-1396430;
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton (Probable).
TISSUE SPECIFICITY: Highest expression in brain, prostate and testis, and moderate expression in kidney, small intestine and ovary.
DOMAIN: Composed of three structural domains: a large globular N- terminal domain which is responsible for the motor activity of kinesin (it hydrolyzes ATP and binds microtubule), a central alpha-helical coiled coil domain that mediates the heavy chain dimerization; and a small globular C-terminal domain which interacts with other proteins (such as the kinesin light chains), vesicles and membranous organelles.
SIMILARITY: Belongs to the kinesin-like protein family. Kinesin subfamily.
SIMILARITY: Contains 1 kinesin-motor domain.
SEQUENCE CAUTION: Sequence=BAA25457.2; 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: KIF5C
Diseases sorted by gene-association score: cortical dysplasia, complex, with other brain malformations 2* (1330), complex cortical dysplasia with other brain malformations (19), spastic paraplegia 10, autosomal dominant (7), microcephaly (2)
* = Manually curated disease association

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 129.35 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 1298.41 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 -233.80391-0.598 Picture PostScript Text
3' UTR -955.603689-0.259 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
IPR019821 - Kinesin_motor_CS
IPR001752 - Kinesin_motor_dom

Pfam Domains:
PF00225 - Kinesin motor domain

ModBase Predicted Comparative 3D Structure on O60282
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-  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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003777 microtubule motor activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008017 microtubule binding
GO:0008574 ATP-dependent microtubule motor activity, plus-end-directed

Biological Process:
GO:0006996 organelle organization
GO:0007018 microtubule-based movement
GO:0007411 axon guidance
GO:0008045 motor neuron axon guidance
GO:0008104 protein localization
GO:0030705 cytoskeleton-dependent intracellular transport
GO:0051028 mRNA transport

Cellular Component:
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005871 kinesin complex
GO:0005874 microtubule
GO:0030425 dendrite
GO:0035253 ciliary rootlet
GO:0042995 cell projection
GO:0043005 neuron projection
GO:0043025 neuronal cell body
GO:0044295 axonal growth cone


-  Descriptions from all associated GenBank mRNAs
  BC002721 - Homo sapiens kinesin family member 5C, mRNA (cDNA clone IMAGE:3627474), partial cds.
BC025961 - Homo sapiens kinesin family member 5C, mRNA (cDNA clone IMAGE:3627269), partial cds.
AB011103 - Homo sapiens KIAA0531 mRNA for KIAA0531 protein.
BC017298 - Homo sapiens kinesin family member 5C, mRNA (cDNA clone IMAGE:5017583), partial cds.
AB384491 - Synthetic construct DNA, clone: pF1KA0531, Homo sapiens KIF5C gene for kinesin family member 5C, complete cds, without stop codon, in Flexi system.
JD485612 - Sequence 466636 from Patent EP1572962.
JD109013 - Sequence 90037 from Patent EP1572962.
JD109014 - Sequence 90038 from Patent EP1572962.
JD472988 - Sequence 454012 from Patent EP1572962.
JD394991 - Sequence 376015 from Patent EP1572962.
JD256380 - Sequence 237404 from Patent EP1572962.
BC127772 - Homo sapiens kinesin family member 5C, mRNA (cDNA clone IMAGE:40128992), partial cds.
BC110287 - Homo sapiens kinesin family member 5C, mRNA (cDNA clone MGC:111478 IMAGE:5165262), complete cds.
KJ904493 - Synthetic construct Homo sapiens clone ccsbBroadEn_13887 KIF5C gene, encodes complete protein.
AB073396 - Homo sapiens primary neuroblastoma cDNA, clone:Nbla04137, full insert sequence.
AB209191 - Homo sapiens mRNA for Kinesin heavy chain isoform 5C variant protein.
AL117393 - Homo sapiens mRNA; cDNA DKFZp566O183 (from clone DKFZp566O183).
AK126689 - Homo sapiens cDNA FLJ44735 fis, clone BRACE3026456.
JD552721 - Sequence 533745 from Patent EP1572962.
JD532754 - Sequence 513778 from Patent EP1572962.
JD044394 - Sequence 25418 from Patent EP1572962.
AL050070 - Homo sapiens mRNA; cDNA DKFZp566B0746 (from clone DKFZp566B0746).
JD471690 - Sequence 452714 from Patent EP1572962.
JD369482 - Sequence 350506 from Patent EP1572962.
JD312974 - Sequence 293998 from Patent EP1572962.
JD256026 - Sequence 237050 from Patent EP1572962.
JD036370 - Sequence 17394 from Patent EP1572962.
JD529000 - Sequence 510024 from Patent EP1572962.
JD203113 - Sequence 184137 from Patent EP1572962.
JD200247 - Sequence 181271 from Patent EP1572962.
JD247252 - Sequence 228276 from Patent EP1572962.
JD290517 - Sequence 271541 from Patent EP1572962.
JD085366 - Sequence 66390 from Patent EP1572962.
JD381333 - Sequence 362357 from Patent EP1572962.
JD299839 - Sequence 280863 from Patent EP1572962.
JD531175 - Sequence 512199 from Patent EP1572962.
JD379311 - Sequence 360335 from Patent EP1572962.
JD048184 - Sequence 29208 from Patent EP1572962.
JD327728 - Sequence 308752 from Patent EP1572962.
JD360850 - Sequence 341874 from Patent EP1572962.
JD245298 - Sequence 226322 from Patent EP1572962.
JD298175 - Sequence 279199 from Patent EP1572962.
JD299685 - Sequence 280709 from Patent EP1572962.
JD098051 - Sequence 79075 from Patent EP1572962.
JD354612 - Sequence 335636 from Patent EP1572962.
JD417415 - Sequence 398439 from Patent EP1572962.
JD059012 - Sequence 40036 from Patent EP1572962.
JD052060 - Sequence 33084 from Patent EP1572962.
JD241268 - Sequence 222292 from Patent EP1572962.
JD468658 - Sequence 449682 from Patent EP1572962.
JD261759 - Sequence 242783 from Patent EP1572962.
JD241151 - Sequence 222175 from Patent EP1572962.
JD333491 - Sequence 314515 from Patent EP1572962.
JD146711 - Sequence 127735 from Patent EP1572962.
JD302131 - Sequence 283155 from Patent EP1572962.
AF010146 - Homo sapiens kinesin heavy chain homolog mRNA, partial cds.

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

Protein O60282 (Reactome details) participates in the following event(s):

R-HSA-264876 Insulin processing
R-HSA-2980736 Peptide hormone metabolism
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000435030.1, ENST00000435030.2, ENST00000435030.3, ENST00000435030.4, ENST00000435030.5, KIAA0531, KIF5C_HUMAN, NKHC2, NM_004522, O60282, O95079, Q2YDC5, uc010zbu.1, uc010zbu.2, uc010zbu.3, uc010zbu.4
UCSC ID: ENST00000435030.6
RefSeq Accession: NM_004522
Protein: O60282 (aka KIF5C_HUMAN or KF5C_HUMAN)
CCDS: CCDS74586.1

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