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Aliases for KIF5C Gene

Aliases for KIF5C Gene

  • Kinesin Family Member 5C 2 3 5
  • Kinesin Heavy Chain Neuron-Specific 2 3 4
  • NKHC2 3 4
  • Kinesin Heavy Chain Isoform 5C 3
  • Kinesin Heavy Chain 3
  • KIAA0531 4
  • CDCBM2 3
  • NKHC-2 3
  • NKHC 3
  • KINN 3

External Ids for KIF5C Gene

Previous GeneCards Identifiers for KIF5C Gene

  • GC02M148723
  • GC02M149409
  • GC02P149805
  • GC02P149996
  • GC02P149466
  • GC02P149349
  • GC02P149632
  • GC02P141630

Summaries for KIF5C Gene

Entrez Gene Summary for KIF5C Gene

  • 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]

GeneCards Summary for KIF5C Gene

KIF5C (Kinesin Family Member 5C) is a Protein Coding gene. Diseases associated with KIF5C include Cortical Dysplasia, Complex, With Other Brain Malformations 2 and Complex Cortical Dysplasia With Other Brain Malformations. Among its related pathways are Circadian entrainment and Peptide hormone metabolism. GO annotations related to this gene include ATPase activity and microtubule motor activity. An important paralog of this gene is KIF5B.

UniProtKB/Swiss-Prot for KIF5C Gene

  • Mediates dendritic trafficking of mRNAs (By similarity). Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport.

Gene Wiki entry for KIF5C Gene

Additional gene information for KIF5C Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIF5C Gene

Genomics for KIF5C Gene

Regulatory Elements for KIF5C Gene

Enhancers for KIF5C Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H148875 1.4 FANTOM5 ENCODE dbSUPER 17.2 +1.3 1321 1 MXI1 PKNOX1 ZNF777 FOXA2 SAP130 GLIS2 POLR2A ZBTB48 PATZ1 ZSCAN29 KIF5C PIR32637
GH02H148926 1.3 Ensembl ENCODE dbSUPER 11.3 +51.8 51772 1 CTCF LEF1 KLF1 ARNT ZSCAN4 RAD21 CTBP1 POLR2A SMC3 ZNF143 LOC100420351 KIF5C RPS20P13 LYPD6B LOC101928553 GC02M148910
GH02H148812 1.1 Ensembl ENCODE 10.9 -61.6 -61619 3 PKNOX1 TBL1XR1 BATF ZNF143 ATF7 ETV6 RUNX3 CREM IKZF2 ZNF362 LOC101928553 LOC100420351 RPS20P13 KIF5C EPC2 RNU2-9P GC02P148794
GH02H149068 1.6 FANTOM5 Ensembl ENCODE dbSUPER 6.1 +194.4 194366 2 MXI1 NFIB MAX SIN3A CEBPG BMI1 CTBP1 GATA3 FOS RCOR1 LYPD6B EPC2 KIF5C TXNP5 GC02M149098
GH02H148908 0.5 dbSUPER 11.8 +34.0 34001 1 NFIC L3MBTL2 NFIA FEZF1 GABPA KIF5C LOC100420351 RPS20P13 GC02M148910 PIR59786
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KIF5C on UCSC Golden Path with GeneCards custom track

Promoters for KIF5C Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000124314 177 801 ATF1 ZNF76 ZBTB40 ETS1 ZNF143 ATF7 CREM THAP11 SP3 HCFC1

Genomic Location for KIF5C Gene

Chromosome:
2
Start:
148,875,223 bp from pter
End:
149,026,759 bp from pter
Size:
151,537 bases
Orientation:
Plus strand

Genomic View for KIF5C Gene

Genes around KIF5C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIF5C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIF5C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIF5C Gene

Proteins for KIF5C Gene

  • Protein details for KIF5C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60282-KIF5C_HUMAN
    Recommended name:
    Kinesin heavy chain isoform 5C
    Protein Accession:
    O60282
    Secondary Accessions:
    • O95079
    • Q2YDC5

    Protein attributes for KIF5C Gene

    Size:
    957 amino acids
    Molecular mass:
    109495 Da
    Quaternary structure:
    • Oligomer composed of two heavy chains and two light chains. Interacts with GRIP1 and KLC3 (By similarity). Interacts with TRAK1 (PubMed:15644324). Interacts with ZFYVE27 (By similarity).
    SequenceCaution:
    • Sequence=BAA25457.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for KIF5C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIF5C Gene

Post-translational modifications for KIF5C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KIF5C Gene

No data available for DME Specific Peptides for KIF5C Gene

Domains & Families for KIF5C Gene

Gene Families for KIF5C Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for KIF5C Gene

Suggested Antigen Peptide Sequences for KIF5C Gene

Graphical View of Domain Structure for InterPro Entry

O60282

UniProtKB/Swiss-Prot:

KIF5C_HUMAN :
  • 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.
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesin subfamily.
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.
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesin subfamily.
genes like me logo Genes that share domains with KIF5C: view

Function for KIF5C Gene

Molecular function for KIF5C Gene

UniProtKB/Swiss-Prot Function:
Mediates dendritic trafficking of mRNAs (By similarity). Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport.

Phenotypes From GWAS Catalog for KIF5C Gene

Gene Ontology (GO) - Molecular Function for KIF5C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003777 microtubule motor activity IEA,TAS 9782088
GO:0005515 protein binding IPI 15644324
GO:0005524 ATP binding IEA --
GO:0008017 microtubule binding IEA --
GO:0008574 ATP-dependent microtubule motor activity, plus-end-directed IBA --
genes like me logo Genes that share ontologies with KIF5C: view
genes like me logo Genes that share phenotypes with KIF5C: view

Human Phenotype Ontology for KIF5C Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KIF5C Gene

MGI Knock Outs for KIF5C:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KIF5C
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KIF5C Gene

Localization for KIF5C Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIF5C Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KIF5C gene
Compartment Confidence
cytoskeleton 5
cytosol 4
nucleus 3
plasma membrane 2
peroxisome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KIF5C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005871 kinesin complex TAS 9782088
GO:0005874 microtubule IEA --
GO:0035253 ciliary rootlet IEA --
genes like me logo Genes that share ontologies with KIF5C: view

Pathways & Interactions for KIF5C Gene

genes like me logo Genes that share pathways with KIF5C: view

Pathways by source for KIF5C Gene

2 KEGG pathways for KIF5C Gene
1 GeneGo (Thomson Reuters) pathway for KIF5C Gene

Gene Ontology (GO) - Biological Process for KIF5C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006996 organelle organization TAS 9782088
GO:0007018 microtubule-based movement IBA,IEA --
GO:0007411 axon guidance IBA --
GO:0008045 motor neuron axon guidance IEA --
genes like me logo Genes that share ontologies with KIF5C: view

No data available for SIGNOR curated interactions for KIF5C Gene

Drugs & Compounds for KIF5C Gene

No Compound Related Data Available

Transcripts for KIF5C Gene

Unigene Clusters for KIF5C Gene

Kinesin family member 5C:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KIF5C
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for KIF5C Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b
SP1: - -
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for KIF5C Gene

GeneLoc Exon Structure for
KIF5C
ECgene alternative splicing isoforms for
KIF5C

Expression for KIF5C Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KIF5C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KIF5C Gene

This gene is overexpressed in Brain - Amygdala (x5.8), Brain - Anterior cingulate cortex (BA24) (x5.1), Brain - Cortex (x5.0), Brain - Frontal Cortex (BA9) (x4.7), Brain - Hippocampus (x4.6), and Brain - Cerebellar Hemisphere (x4.1).

Protein differential expression in normal tissues from HIPED for KIF5C Gene

This gene is overexpressed in Fetal Brain (26.7), Frontal cortex (9.2), Brain (8.2), Ovary (6.8), and Spinal cord (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KIF5C Gene



Protein tissue co-expression partners for KIF5C Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KIF5C Gene:

KIF5C

SOURCE GeneReport for Unigene cluster for KIF5C Gene:

Hs.435557

mRNA Expression by UniProt/SwissProt for KIF5C Gene:

O60282-KIF5C_HUMAN
Tissue specificity: Highest expression in brain, prostate and testis, and moderate expression in kidney, small intestine and ovary.

Evidence on tissue expression from TISSUES for KIF5C Gene

  • Nervous system(5)
  • Lung(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KIF5C Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • head
  • skull
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • spinal cord
genes like me logo Genes that share expression patterns with KIF5C: view

Primer Products

Orthologs for KIF5C Gene

This gene was present in the common ancestor of animals.

Orthologs for KIF5C Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIF5C 33 34
  • 99.65 (n)
cow
(Bos Taurus)
Mammalia KIF5C 33 34
  • 93.03 (n)
dog
(Canis familiaris)
Mammalia KIF5C 33 34
  • 92.76 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KIF5C 34
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kif5c 33
  • 90.12 (n)
mouse
(Mus musculus)
Mammalia Kif5c 33 16 34
  • 89.75 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 31 (a)
OneToMany
chicken
(Gallus gallus)
Aves KIF5C 33 34
  • 84.41 (n)
lizard
(Anolis carolinensis)
Reptilia KIF5C 34
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kif5c 33
  • 78.33 (n)
Str.12975 33
zebrafish
(Danio rerio)
Actinopterygii kif5c 33 34
  • 73.99 (n)
fruit fly
(Drosophila melanogaster)
Insecta Khc 34
  • 61 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-116 34
  • 54 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 63 (a)
OneToMany
Species where no ortholog for KIF5C was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KIF5C Gene

ENSEMBL:
Gene Tree for KIF5C (if available)
TreeFam:
Gene Tree for KIF5C (if available)

Paralogs for KIF5C Gene

Paralogs for KIF5C Gene

genes like me logo Genes that share paralogs with KIF5C: view

Variants for KIF5C Gene

Sequence variations from dbSNP and Humsavar for KIF5C Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs587777035 Cortical dysplasia, complex, with other brain malformations 2 (CDCBM2) [MIM:615282]
rs1000004934 -- 148,931,745(+) AGAGG(C/T)TCTCA intron-variant
rs1000016870 -- 148,881,152(+) CCTTC(C/T)TCATG intron-variant
rs1000077647 -- 148,884,037(+) GTTTG(C/T)CTCAT intron-variant
rs1000082876 -- 148,873,958(+) AGCCA(C/G)AGCCT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for KIF5C Gene

Variant ID Type Subtype PubMed ID
esv2664279 CNV deletion 23128226
esv2751831 CNV gain 17911159
esv3592853 CNV loss 21293372
nsv2963 CNV insertion 18451855
nsv473264 CNV novel sequence insertion 20440878
nsv473956 CNV novel sequence insertion 20440878
nsv475150 CNV novel sequence insertion 20440878
nsv479307 CNV novel sequence insertion 20440878
nsv479767 CNV novel sequence insertion 20440878
nsv479910 CNV novel sequence insertion 20440878
nsv480410 CNV novel sequence insertion 20440878
nsv480451 CNV novel sequence insertion 20440878
nsv480911 CNV novel sequence insertion 20440878
nsv508874 CNV insertion 20534489
nsv834407 CNV loss 17160897
nsv834408 CNV gain 17160897
nsv955264 CNV deletion 24416366
nsv979133 CNV duplication 23825009

Variation tolerance for KIF5C Gene

Gene Damage Index Score: 2.02; 37.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KIF5C Gene

Human Gene Mutation Database (HGMD)
KIF5C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIF5C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIF5C Gene

Disorders for KIF5C Gene

MalaCards: The human disease database

(4) MalaCards diseases for KIF5C Gene - From: HGMD, OMIM, ClinVar, GeneTests, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cortical dysplasia, complex, with other brain malformations 2
  • complex cortical dysplasia with other brain malformations 2
complex cortical dysplasia with other brain malformations
  • cdcbm
spastic paraplegia 10, autosomal dominant
  • hereditary spastic paraplegia 10
microcephaly
  • microcephalus
- elite association - COSMIC cancer census association via MalaCards
Search KIF5C in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KIF5C_HUMAN
  • Cortical dysplasia, complex, with other brain malformations 2 (CDCBM2) [MIM:615282]: A disorder of aberrant neuronal migration and disturbed axonal guidance. Clinical features include intrauterine growth retardation, fetal akinesia, seizures, microcephaly, lack of psychomotor development, and arthrogryposis. Brain imaging shows malformations of cortical development, including polymicrogyria, gyral simplification, and thin corpus callosum. {ECO:0000269 PubMed:23603762}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KIF5C

Genetic Association Database (GAD)
KIF5C
Human Genome Epidemiology (HuGE) Navigator
KIF5C
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KIF5C
genes like me logo Genes that share disorders with KIF5C: view

No data available for Genatlas for KIF5C Gene

Publications for KIF5C Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  2. GRIF-1 and OIP106, members of a novel gene family of coiled-coil domain proteins: association in vivo and in vitro with kinesin. (PMID: 15644324) Brickley K … Stephenson FA (The Journal of biological chemistry 2005) 3 4 60
  3. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9628581) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 3 4 60
  4. Huntingtin-associated protein 1 (HAP1) interacts with the p150Glued subunit of dynactin. (PMID: 9361024) Engelender S … Ross CA (Human molecular genetics 1997) 3 4 60
  5. Cloning and localization of a conventional kinesin motor expressed exclusively in neurons. (PMID: 7514426) Niclas J … Vale RD (Neuron 1994) 2 3 60

Products for KIF5C Gene

Sources for KIF5C Gene

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