• Gene id: 10749

Gene Summary

• Gene Symbol: KIF1C   Gene   UCSC   Ensembl
• Aliases: LTXS1, SATX2, SAX2, SPAX2, SPG58
• Gene name: kinesin family member 1C
• Alternate names: kinesin-like protein KIF1C, spastic ataxia 2 (autosomal recessive),
• Gene location: 17p13.2 (4997949: 5028400)     Exons: 24     NC_000017.11
• Gene summary(Entrez): 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 c
• OMIM: 603060

Protein Summary

• Protein general information: O43896  
  • Name: Kinesin like protein KIF1C
  • Length: 1103  
  • Mass: 122947
  • Tissue specificity: Expressed in all tissues examined, with most abundant expression in heart and skeletal muscle. {ECO
• Sequence:

  MAGASVKVAVRVRPFNARETSQDAKCVVSMQGNTTSIINPKQSKDAPKSFTFDYSYWSHTSTEDPQFASQQQVYR
  DIGEEMLLHAFEGYNVCIFAYGQTGAGKSYTMMGRQEPGQQGIVPQLCEDLFSRVSENQSAQLSYSVEVSYMEIY
  CERVRDLLNPKSRGSLRVREHPILGPYVQDLSKLAVTSYADIADLMDCGNKARTVAATNMNETSSRSHAVFTIVF
  TQRCHDQLTGLDSEKVSKISLVDLAGSERADSSGARGMRLKEGANINKSLTTLGKVISALADMQSKKRKSDFIPY
  RDSVLTWLLKENLGGNSRTAMIAALSPADINYEETLSTLRYADRTKQIRCNAIINEDPNARLIRELQEEVARLRE
  LLMAQGLSASALEGLKTEEGSVRGALPAVSSPPAPVSPSSPTTHNGELEPSFSPNTESQIGPEEAMERLQETEKI
  IAELNETWEEKLRKTEALRMEREALLAEMGVAVREDGGTVGVFSPKKTPHLVNLNEDPLMSECLLYHIKDGVTRV
  GQVDMDIKLTGQFIREQHCLFRSIPQPDGEVVVTLEPCEGAETYVNGKLVTEPLVLKSGNRIVMGKNHVFRFNHP
  EQARLERERGVPPPPGPPSEPVDWNFAQKELLEQQGIDIKLEMEKRLQDLENQYRKEKEEADLLLEQQRLYADSD
  SGDDSDKRSCEESWRLISSLREQLPPTTVQTIVKRCGLPSSGKRRAPRRVYQIPQRRRLQGKDPRWATMADLKMQ
  AVKEICYEVALADFRHGRAEIEALAALKMRELCRTYGKPDGPGDAWRAVARDVWDTVGEEEGGGAGSGGGSEEGA
  RGAEVEDLRAHIDKLTGILQEVKLQNSSKDRELQALRDRMLRMERVIPLAQDHEDENEEGGEVPWAPPEGSEAAE
  EAAPSDRMPSARPPSPPLSSWERVSRLMEEDPAFRRGRLRWLKQEQLRLQGLQGSGGRGGGLRRPPARFVPPHDC
  KLRFPFKSNPQHRESWPGMGSGEAPTPLQPPEEVTPHPATPARRPPSPRRSHHPRRNSLDGGGRSRGAGSAQPEP
  QHFQPKKHNSYPQPPQPYPAQRPPGPRYPPYTTPPRMRRQRSAPDLKESGAAV

• Structural information:
  • Protein Domains: (5..34-)
    (/note="Kinesin-motor)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00283-)
    (523..59-)
    (/note="FHA"-)
  • Interpro: IPR000253  IPR027640  IPR032405  IPR019821  IPR001752   IPR036961  IPR027417  IPR008984  
  • Prosite: PS00411 PS50067
  • CDD: cd00060
  • PDB: 2G1L
  • PDBsum: 2G1L
  • DIP: 40376
  • STRING: ENSP00000320821
• Other Databases: GeneCards:  KIF1C  Malacards:  KIF1C

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990048	anterograde neuronal dense core vesicle transport	ISS	biological process
GO:1990049	retrograde neuronal dense core vesicle transport	ISS	biological process
GO:0003777	microtubule motor activity	IBA	molecular function
GO:0005871	kinesin complex	IBA	cellular component
GO:0007018	microtubule-based movement	IBA	biological process
GO:0008017	microtubule binding	IBA	molecular function
GO:0016192	vesicle-mediated transport	IBA	biological process
GO:0030424	axon	IBA	cellular component
GO:0030425	dendrite	IBA	cellular component
GO:0030705	cytoskeleton-dependent intracellular transport	IBA	biological process
GO:0043005	neuron projection	IBA	cellular component
GO:0005874	microtubule	IBA	cellular component
GO:0008574	ATP-dependent microtubule motor activity, plus-end-directed	IBA	molecular function
GO:0016887	ATPase activity	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003777	microtubule motor activity	IEA	molecular function
GO:0007018	microtubule-based movement	IEA	biological process
GO:0008017	microtubule binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0003774	motor activity	TAS	molecular function
GO:0006890	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	TAS	biological process
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0005794	Golgi apparatus	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0006890	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Spastic ataxia	KEGG:H01351
Spastic ataxia	KEGG:H01351
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq