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Aliases for KIF1C Gene

Aliases for KIF1C Gene

  • Kinesin Family Member 1C 2 3
  • Spastic Ataxia 2 (Autosomal Recessive) 2 3
  • KIAA0706 4 6
  • LTXS1 3 6
  • SPAX2 3 6
  • Kinesin-Like Protein KIF1C 3
  • SATX2 3
  • SPG58 3
  • SAX2 3

External Ids for KIF1C Gene

Previous HGNC Symbols for KIF1C Gene

  • SAX2

Previous GeneCards Identifiers for KIF1C Gene

  • GC17P005320
  • GC17P005239
  • GC17P004846
  • GC17P005101
  • GC17P004843
  • GC17P004844
  • GC17P004901

Summaries for KIF1C Gene

Entrez Gene Summary for KIF1C Gene

  • The protein encoded by this gene is a member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. Mutations in this gene are a cause of spastic ataxia 2, autosomal recessive. [provided by RefSeq, May 2014]

GeneCards Summary for KIF1C Gene

KIF1C (Kinesin Family Member 1C) is a Protein Coding gene. Diseases associated with KIF1C include spastic ataxia 2, autosomal recessive and autosomal recessive spastic paraplegia type 58. Among its related pathways are Reelin Pathway (Cajal-Retzius cells). GO annotations related to this gene include microtubule binding and motor activity. An important paralog of this gene is KIF14.

UniProtKB/Swiss-Prot for KIF1C Gene

  • Motor required for the retrograde transport of Golgi vesicles to the endoplasmic reticulum. Has a microtubule plus end-directed motility.

Gene Wiki entry for KIF1C Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIF1C Gene

Genomics for KIF1C Gene

Regulatory Elements for KIF1C Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for KIF1C Gene

Start:
4,997,948 bp from pter
End:
5,028,401 bp from pter
Size:
30,454 bases
Orientation:
Plus strand

Genomic View for KIF1C Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KIF1C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KIF1C Gene

Proteins for KIF1C Gene

  • Protein details for KIF1C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43896-KIF1C_HUMAN
    Recommended name:
    Kinesin-like protein KIF1C
    Protein Accession:
    O43896
    Secondary Accessions:
    • D3DTL6
    • O75186
    • Q5U618

    Protein attributes for KIF1C Gene

    Size:
    1103 amino acids
    Molecular mass:
    122947 Da
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • Sequence=BAA31681.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KIF1C Gene

neXtProt entry for KIF1C Gene

Proteomics data for KIF1C Gene at MOPED

Post-translational modifications for KIF1C Gene

Other Protein References for KIF1C Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KIF1C Gene

Domains for KIF1C Gene

Gene Families for KIF1C Gene

HGNC:
  • KIF :Kinesins

Suggested Antigen Peptide Sequences for KIF1C Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O43896

UniProtKB/Swiss-Prot:

KIF1C_HUMAN :
  • O43896
Domain:
  • Contains 1 FHA domain.
  • Contains 1 kinesin motor domain.
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Unc-104 subfamily.
genes like me logo Genes that share domains with KIF1C: view

Function for KIF1C Gene

Molecular function for KIF1C Gene

UniProtKB/Swiss-Prot Function:
Motor required for the retrograde transport of Golgi vesicles to the endoplasmic reticulum. Has a microtubule plus end-directed motility.

Gene Ontology (GO) - Molecular Function for KIF1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity TAS 9685376
GO:0003777 microtubule motor activity --
GO:0005515 protein binding IPI 20360680
GO:0005524 ATP binding IEA --
GO:0008017 microtubule binding IEA --
genes like me logo Genes that share ontologies with KIF1C: view
genes like me logo Genes that share phenotypes with KIF1C: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KIF1C

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for KIF1C Gene

Localization for KIF1C Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIF1C Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KIF1C Gene COMPARTMENTS Subcellular localization image for KIF1C gene
Compartment Confidence
cytoskeleton 4
endoplasmic reticulum 4
golgi apparatus 4
cytosol 3
nucleus 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for KIF1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum TAS 9685376
GO:0005794 Golgi apparatus IEA --
GO:0005871 kinesin complex IBA --
GO:0005874 microtubule IEA --
genes like me logo Genes that share ontologies with KIF1C: view

Pathways for KIF1C Gene

genes like me logo Genes that share pathways with KIF1C: view

Pathways by source for KIF1C Gene

1 Qiagen pathway for KIF1C Gene

Gene Ontology (GO) - Biological Process for KIF1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER IEA --
GO:0007018 microtubule-based movement IBA --
GO:0008152 metabolic process TAS 9685376
GO:0008219 cell death --
genes like me logo Genes that share ontologies with KIF1C: view

Transcripts for KIF1C Gene

Unigene Clusters for KIF1C Gene

Kinesin family member 1C:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KIF1C

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KIF1C Gene

No ASD Table

Relevant External Links for KIF1C Gene

GeneLoc Exon Structure for
KIF1C
ECgene alternative splicing isoforms for
KIF1C

Expression for KIF1C Gene

mRNA expression in normal human tissues for KIF1C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KIF1C Gene

This gene is overexpressed in Muscle - Skeletal (6.1).

Protein differential expression in normal tissues for KIF1C Gene

This gene is overexpressed in Brain (13.9), Stomach (13.4), Pancreatic juice (11.0), and Prostate (6.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for KIF1C Gene

SOURCE GeneReport for Unigene cluster for KIF1C Gene Hs.435120

mRNA Expression by UniProt/SwissProt for KIF1C Gene

O43896-KIF1C_HUMAN
Tissue specificity: Expressed in all tissues examined, with most abundant expression in heart and skeletal muscle.
genes like me logo Genes that share expressions with KIF1C: view

In Situ Assay Products

No data available for Expression partners for KIF1C Gene

Orthologs for KIF1C Gene

This gene was present in the common ancestor of animals.

Orthologs for KIF1C Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KIF1C 35
  • 89.62 (n)
  • 95.46 (a)
KIF1C 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KIF1C 35
  • 88.92 (n)
  • 94.82 (a)
KIF1C 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kif1c 35
  • 87.79 (n)
  • 93.27 (a)
Kif1c 16
Kif1c 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KIF1C 35
  • 99.43 (n)
  • 99.46 (a)
KIF1C 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kif1c 35
  • 86.79 (n)
  • 92.42 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 52 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia KIF1C 36
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 36
  • 38 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia KIF1C 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kif1c 35
  • 70.91 (n)
  • 76.21 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.2407 35
zebrafish
(Danio rerio)
Actinopterygii kif1b 35
kif1c 35
  • 66.87 (n)
  • 70.36 (a)
kif1c 36
  • 79 (a)
OneToMany
KIF1C (2 of 2) 36
  • 48 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta nod 37
  • 30 (a)
unc-104 36
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea klp-6 37
  • 38 (a)
unc-104 36
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 23 (a)
OneToMany
Species with no ortholog for KIF1C:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 KIF1C Gene

ENSEMBL:
Gene Tree for KIF1C (if available)
TreeFam:
Gene Tree for KIF1C (if available)

Paralogs for KIF1C Gene

genes like me logo Genes that share paralogs with KIF1C: view

Variants for KIF1C Gene

Sequence variations from dbSNP and Humsavar for KIF1C Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs346827 -- 5,023,312(+) CTGCG(C/T)CCGGC intron-variant
rs346828 -- 5,023,587(+) TCGCC(A/G)CCACT reference, synonymous-codon
rs374214 -- 5,017,822(+) TCAGA(C/T)ACAGG intron-variant
rs376647 -- 5,014,050(+) TCCCT(C/G)GGGGC intron-variant
rs376713 -- 5,014,107(+) GCTAA(A/G)GGCAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KIF1C Gene

Variant ID Type Subtype PubMed ID
nsv907619 CNV Loss 21882294
nsv907620 CNV Loss 21882294
nsv833350 CNV Loss 17160897
nsv907622 CNV Loss 21882294

Relevant External Links for KIF1C Gene

HapMap Linkage Disequilibrium report
KIF1C
Human Gene Mutation Database (HGMD)
KIF1C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIF1C Gene

Disorders for KIF1C Gene

(1) OMIM Diseases for KIF1C Gene (603060)

UniProtKB/Swiss-Prot

KIF1C_HUMAN
  • Spastic ataxia 2, autosomal recessive (SPAX2) [MIM:611302]: A neurologic disorder characterized by cerebellar ataxia, dysarthria, and variable spasticity of the lower limbs. Cognition is not affected. {ECO:0000269 PubMed:24319291}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for KIF1C Gene

genes like me logo Genes that share disorders with KIF1C: view

No data available for Novoseek inferred disease relationships , Genatlas and External Links for KIF1C Gene

Publications for KIF1C Gene

  1. KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction. (PMID: 24319291) Dor T. … Edvardson S. (J. Med. Genet. 2014) 2 3 4
  2. Characterization of KIF1C, a new kinesin-like protein involved in vesicle transport from the Golgi apparatus to the endoplasmic reticulum. (PMID: 9685376) Dorner C. … Lammers R. (J. Biol. Chem. 1998) 2 3 4
  3. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9734811) Ishikawa K. … Ohara O. (DNA Res. 1998) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. (PMID: 24482476) Novarino G. … Gleeson J.G. (Science 2014) 2 3

Products for KIF1C Gene

  • Addgene plasmids for KIF1C

Sources for KIF1C Gene

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