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Aliases for KIF1C Gene

Aliases for KIF1C Gene

  • Kinesin Family Member 1C 2 3 5
  • Spastic Ataxia 2 (Autosomal Recessive) 2 3
  • Kinesin-Like Protein KIF1C 3
  • KIAA0706 4
  • LTXS1 3
  • SATX2 3
  • SPAX2 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 Spastic Ataxia 2. Among its related pathways are Reelin Pathway (Cajal-Retzius cells) and Golgi-to-ER retrograde transport. Gene Ontology (GO) annotations related to this gene include microtubule binding. An important paralog of this gene is KIF1A.

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

Additional gene information for KIF1C Gene

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

Genomics for KIF1C Gene

GeneHancer (GH) Regulatory Elements for KIF1C Gene

Promoters and enhancers for KIF1C Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J004996 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 658.2 +0.9 899 4.2 HDGF MLX ARID4B SIN3A DMAP1 YBX1 YY1 ZNF766 ZNF207 ZNF143 INCA1 KIF1C NUP88 CHRNE ZNF232 MIS12 ZZEF1 CAMTA2 DERL2 ENSG00000234203
GH17J004965 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 19.1 -29.3 -29332 5.4 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 SP3 SPAG7 MIR6864 MIR6865 PIR49988 ENSG00000262429 ZNF232 NUP88 MIS12 INCA1 CHRNE
GH17J005041 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 11.7 +44.5 44521 1.4 HDAC1 IRF2 TEAD4 TAL1 ZBTB40 FOSL1 TCF12 CTBP1 NCOR1 ADNP ZFP3 SPAG7 ENO3 ENSG00000234203 INCA1 KIF1C CAMTA2 PFN1 SLC52A1 LOC105371501
GH17J005030 Enhancer 1.1 Ensembl ENCODE 7.8 +33.6 33635 2 HDGF RB1 RAD21 ZEB1 ZNF335 ZNF121 GLIS2 EGR1 ZNF143 IKZF2 LOC105371501 LOC105371502 SPAG7 CHRNE CAMTA2 KIF1C GC17P005013
GH17J004489 Enhancer 1.4 Ensembl ENCODE dbSUPER 5.6 -506.2 -506190 4.5 PKNOX1 MLX ARID4B NEUROD1 SIN3A ZNF48 SLC30A9 ZNF143 FOS NFKBIZ GGT6 KIF1C ENSG00000262823 SPNS2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KIF1C on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KIF1C gene promoter:
  • Nkx2-5
  • E2F
  • E2F-3a
  • E2F-2
  • E2F-1
  • E2F-4

Genomic Locations for KIF1C Gene

Genomic Locations for KIF1C Gene
chr17:4,997,948-5,028,401
(GRCh38/hg38)
Size:
30,454 bases
Orientation:
Plus strand
chr17:4,901,243-4,931,696
(GRCh37/hg19)
Size:
30,454 bases
Orientation:
Plus strand

Genomic View for KIF1C Gene

Genes around KIF1C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIF1C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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. Interacts with BICD2.
    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

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 & Families for KIF1C Gene

Gene Families for KIF1C Gene

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

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 :
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Unc-104 subfamily.
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.

Phenotypes From GWAS Catalog for KIF1C Gene

Gene Ontology (GO) - Molecular Function for KIF1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0003774 motor activity IEA,TAS 9685376
GO:0003777 microtubule motor activity IEA,IBA --
GO:0005515 protein binding IPI 20360680
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with KIF1C: view
genes like me logo Genes that share phenotypes with KIF1C: view

Human Phenotype Ontology for KIF1C Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KIF1C Gene

MGI Knock Outs for KIF1C:

Animal Model Products

miRNA for KIF1C Gene

miRTarBase miRNAs that target KIF1C

Clone Products

  • Addgene plasmids for KIF1C

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
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 KIF1C gene
Compartment Confidence
golgi apparatus 5
cytoskeleton 4
nucleus 4
endoplasmic reticulum 4
cytosol 4
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for KIF1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum TAS 9685376
GO:0005794 Golgi apparatus IEA --
GO:0005856 cytoskeleton IEA --
GO:0005871 kinesin complex IBA --
genes like me logo Genes that share ontologies with KIF1C: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KIF1C Gene

Pathways & Interactions for KIF1C Gene

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

Gene Ontology (GO) - Biological Process for KIF1C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER TAS,IEA --
GO:0007018 microtubule-based movement IBA,IEA --
GO:0016192 vesicle-mediated transport IBA --
GO:0030705 cytoskeleton-dependent intracellular transport IBA --
genes like me logo Genes that share ontologies with KIF1C: view

No data available for SIGNOR curated interactions for KIF1C Gene

Drugs & Compounds for KIF1C Gene

No Compound Related Data Available

Transcripts for KIF1C Gene

mRNA/cDNA for KIF1C Gene

Unigene Clusters for KIF1C Gene

Kinesin family member 1C:
Representative Sequences:

Clone Products

  • Addgene plasmids for KIF1C

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x6.1).

Protein differential expression in normal tissues from HIPED 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 in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for KIF1C Gene



NURSA nuclear receptor signaling pathways regulating expression of KIF1C Gene:

KIF1C

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.

Evidence on tissue expression from TISSUES for KIF1C Gene

  • Nervous system(4.6)
  • Liver(4.4)
  • Intestine(2.9)
  • Muscle(2.9)
  • Skin(2.7)
  • Heart(2.6)
  • Kidney(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KIF1C Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • eye
  • head
  • neck
Limb:
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with KIF1C: view

No data available for Protein tissue co-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
chimpanzee
(Pan troglodytes)
Mammalia KIF1C 34 33
  • 99.43 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KIF1C 34 33
  • 89.62 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KIF1C 34 33
  • 88.92 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Kif1c 16 34 33
  • 87.79 (n)
rat
(Rattus norvegicus)
Mammalia Kif1c 33
  • 86.79 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KIF1C 34
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 52 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 34
  • 38 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia KIF1C 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kif1c 33
  • 70.91 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.2407 33
zebrafish
(Danio rerio)
Actinopterygii kif1c 34 33
  • 66.87 (n)
OneToMany
KIF1C (2 of 2) 34
  • 48 (a)
OneToMany
kif1b 33
fruit fly
(Drosophila melanogaster)
Insecta nod 35
  • 30 (a)
unc-104 34
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea klp-6 35
  • 38 (a)
unc-104 34
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 23 (a)
OneToMany
Species where no ortholog for KIF1C was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for KIF1C: view image

Paralogs for KIF1C Gene

Variants for KIF1C Gene

Sequence variations from dbSNP and Humsavar for KIF1C Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs10533622 benign, Ataxia, spastic, 2, autosomal recessive 5,002,852(+) CCCCCCCCCCC/CCCCCCCC/CCCCCCCCC/CCCCCCCCCC/CCCCCCCCCCCC intron_variant
rs114935927 benign, Ataxia, spastic, 2, autosomal recessive 5,006,907(+) C/T intron_variant
rs115332491 benign, Ataxia, spastic, 2, autosomal recessive 5,023,826(+) G/A coding_sequence_variant, missense_variant
rs118037269 uncertain-significance, Hereditary spastic paraplegia 5,022,380(+) G/A coding_sequence_variant, missense_variant
rs138935423 likely-benign, benign, not specified, Ataxia, spastic, 2, autosomal recessive 5,022,186(+) C/T coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
dgv5431n54 CNV loss 21841781
esv3639800 CNV loss 21293372
nsv1109047 CNV deletion 24896259
nsv1125372 OTHER inversion 24896259
nsv574273 CNV gain 21841781
nsv833350 CNV loss 17160897

Variation tolerance for KIF1C Gene

Residual Variation Intolerance Score: 11.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.24; 62.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KIF1C Gene

Human Gene Mutation Database (HGMD)
KIF1C
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIF1C

SNP Genotyping and Copy Number Assay Products

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

Disorders for KIF1C Gene

MalaCards: The human disease database

(8) MalaCards diseases for KIF1C Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search KIF1C in MalaCards View complete list of genes associated with diseases

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, ECO:0000269 PubMed:24482476}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for KIF1C

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

No data available for Genatlas 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 (Journal of medical genetics 2014) 2 3 4 58
  2. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. (PMID: 24482476) Novarino G … Gleeson JG (Science (New York, N.Y.) 2014) 2 3 4 58
  3. 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 (The Journal of biological chemistry 1998) 2 3 4 58
  4. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4 58
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58

Products for KIF1C Gene

  • Addgene plasmids for KIF1C

Sources for KIF1C Gene

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