KIF1C - kinesin family member 1C Gene

Also Known as SAX2; LTXS1; SATX2; SPAX2; SPG58

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10749

About KIF1C

Cytogenetic location: 17p13.2 Genomic coordinates (GRCh38): 17:4,997,950-5,028,401 (from NCBI)

This gene has 4 transcripts (splice variants), 186 orthologues, 41 paralogues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 51.8), fat (RPKM 28.5) and 24 other tissues.

Summary

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]

KIF1C Products (1)

mRNA	Protein	Name
NM_006612.6	NP_006603.2	kinesin-like protein KIF1C

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	10559254	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KIF1C Protein Structure

Kinesin

FHA

0
200
400
600
800
1000
1103 a.a.

Protein Preferred Names	Protein Names
kinesin-like protein KIF1C	spastic ataxia 2 (autosomal recessive)

KIF1C Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	KIF1C	O43896	YWHAE	Homo sapiens	P62258	Confocal	21988832
Intra	KIF1C	O43896	YWHAE	Homo sapiens	P62258	Crosslink	36931259
Intra	KIF1C	O43896	YWHAG	Homo sapiens	P61981	SLC	36931259
Intra	KIF1C	O43896	YWHAG	Homo sapiens	P61981	CoIP	10559254
Intra	KIF1C	O43896	YWHAQ	Homo sapiens	P27348	Confocal	21988832
Intra	KIF1C	O43896	YWHAQ	Homo sapiens	P27348	Y2H	21988832
Cross	KIF1C	O43896	Bicdl1	Mus musculus	A0JNT9	Y2H	20360680

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Spastic Ataxia 2, Autosomal Recessive	SPAX2 Ataxia, Spastic, 2, Autosomal Recessive Autosomal Spastic Paraplegia Type 58 Autosomal Spastic Ataxia Type 2 Spg58 Ataxia, Spastic 2, Autosomal Recessive
Spastic Ataxia 2
Aceruloplasminemia	Cerebellar Ataxia Hypoceruloplasminemia Hemosiderosis, Systemic, Due To Aceruloplasminemia Familial Apoceruloplasmin Deficiency Hereditary Ceruloplasmin Deficiency Deficiency Of Ferroxidase Hypoceruloplasminemia, Hereditary Ceruloplasmin Deficiency Systemic Hemosiderosis Due To Aceruloplasminemia ACERULOP
Spastic Ataxia	Spax Ataxia, Spastic
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Hereditary Spastic Paraplegia 30	Autosomal Spastic Paraplegia Type 30 Spg30 Autosomal Recessive Spastic Paraplegia 30
Spastic Paraplegia 27, Autosomal Recessive	SPG27 Hereditary Spastic Paraplegia 27 Autosomal Recessive Spastic Paraplegia Type 27 Autosomal Recessive Spastic Paraplegia 27 Spastic Paraplegia-27, Autosomal Recessive
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Complex Cortical Dysplasia With Other Brain Malformations 2 CDCBM2 Dysplasia ,Cortical, Complex, With Other Brain Malformations, Type 2
Hereditary Spastic Paraplegia 23	Lison Syndrome Spastic Paraparesis-Vitiligo-Premature Graying-Characteristic Facies Syndrome Spastic Paraplegia 23 Spastic Paraplegia With Pigmentary Abnormalities Spg23
Spastic Ataxia 3
Spastic Paraplegia 36, Autosomal Dominant	SPG36 Hereditary Spastic Paraplegia 36 Autosomal Dominant Spastic Paraplegia Type 36 Autosomal Dominant Spastic Paraplegia 36
Spinocerebellar Ataxia, Autosomal Recessive 21	SCAR21 Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome Spinocerebellar Ataxia, Autosomal Recessive 21, With Hepatopathy Cholestasis, Low Ggt, Acute Liver Failure, And Neurodegeneration Syndrome Calfan Autosomal Recessive Spinocerebellar Ataxia 21 Autosomal Recessive Spinocerebellar Ataxia 21 With Hepatopathy Autosomal Recessive Spinocerebellar Ataxia Type 21 Spinocerebellar Ataxia, Autosomal Recessive, 21 Calfan Syndrome
Goldberg-Shprintzen Syndrome	Goldberg-Shprintzen Megacolon Syndrome GOSHS Megacolon-Microcephaly Syndrome
Cutaneous Anthrax	Anthrax, Skin Type Skin Anthrax
Spastic Paraplegia 78, Autosomal Recessive	SPG78 Autosomal Recessive Spastic Paraplegia Type 78 Hereditary Spastic Paraplegia 78 Spastic Paraplegia 78 Autosomal Recessive Doid:0112348
Spastic Paraplegia 79, Autosomal Recessive	Early-Onset Progressive Neurodegeneration-Blindness-Ataxia-Spasticity Syndrome SPG79 Neurodegeneration With Optic Atrophy, Childhood-Onset Ndgoa Hereditary Spastic Paraplegia 79 Spastic Paraplegia 79 Autosomal Recessive Doid:0112344 Neurodegeneration, With Optic Atrophy, Childhood-Onset
Spinocerebellar Ataxia, Autosomal Recessive 24	SCAR24 Autosomal Recessive Spinocerebellar Ataxia 24 Spinocerebellar Ataxia, Autosomal Recessive, 24 Ataxia, Spinocerebellar, Autosomal Recessive, Type 24
Spastic Paraplegia 57, Autosomal Recessive	SPG57 Hereditary Spastic Paraplegia 57 Autosomal Recessive Spastic Paraplegia Type 57 Autosomal Recessive Spastic Paraplegia 57 Spastic Paraplegia Due To Partial Tfg Deficiency Paraplegia, Spastic, Type 57, Autosomal Recessive
Peho Syndrome	Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy Infantile Cerebellooptic Atrophy PEHO Progressive Encephalopathy With Edema, Hypsarrhythmia And Optic Atrophy Progressive Encephalopathy-Optic Atrophy Syndrome
Spastic Paraplegia 43, Autosomal Recessive	SPG43 Hereditary Spastic Paraplegia 43 Autosomal Recessive Spastic Paraplegia Type 43 Autosomal Recessive Spastic Paraplegia 43 Paraplegia, Spastic, Type 43, Autosomal Recessive
Motor Neuron Disease	Anterior Horn Cell Disease Motor Neuron Diseases Mnd - [Motor Neurone Disease] Lou Gehrig Disease Creeping Palsy Creeping Paralysis Bulbar Motor Neuron Disease Bulbar Syndrome Anterior Horn Cell Disorder Hereditary Motor Neuron Disease
Spastic Paraplegia 10, Autosomal Dominant	SPG10 Hereditary Spastic Paraplegia 10 Autosomal Dominant Spastic Paraplegia Type 10 Spastic Paraplegia 10 Spastic Paraplegia 10 With Or Without Peripheral Neuropathy Autosomal Dominant Spastic Paraplegia 10 Autosomal Dominant Spastic Paraplegia Spastic Paraplegia, Autosomal Dominant Paraplegia, Spastic, Autosomal Dominant, Type 10
Complex Cortical Dysplasia With Other Brain Malformations	Cdcbm Dysplasia, Cortical, Complex, With Other Brain Malformations Dysplasia ,Cortical, Complex, With Other Brain Malformations
Anthrax Disease	Anthrax Ragpicker'S Disease Black Baine Malignant Edema Malignant Pustule Siberian Plague Wool Sorter'S Disease Gas Gangrene Cutaneous Anthrax Anthrax Infection Splenic Fever
Spastic Paraplegia 45, Autosomal Recessive	SPG45 Hereditary Spastic Paraplegia 45 Autosomal Recessive Spastic Paraplegia Type 45 Autosomal Recessive Spastic Paraplegia Type 65 Spg65 Autosomal Recessive Spastic Paraplegia 45 Paraplegia, Spastic, Type 45, Autosomal Recessive
Spastic Paraplegia 50, Autosomal Recessive	Hereditary Spastic Paraplegia 50 SPG50 Ap-4 Deficiency Syndrome Ap-4-Associated Hereditary Spastic Paraplegia Adaptor Protein Complex 4 Deficiency Cerebral Palsy, Spastic Quadriplegic, 3, Formerly Cpsq3, Formerly Autosomal Recessive Spastic Paraplegia 50 Cpsq3 Spastic Quadriplegic Cerebral Palsy 3 Ap-4 Deficiency Ap-4-Associated Hsp Paraplegia, Spastic, Autosomal Recessive, Type 50 Spastic Paraplegia-50, Autosomal Recessive
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
3-Methylglutaconic Aciduria, Type Iii	Optic Atrophy 3-Methylglutaconic Aciduria Type 3 Costeff Syndrome Mga3 Costeff Optic Atrophy Syndrome Optic Atrophy Plus Syndrome Infantile Optic Atrophy With Chorea And Spastic Paraplegia 3-Methylglutaconic Aciduria Type Iii Autosomal Recessive Optic Atrophy Plus Syndrome Autosomal Recessive Optic Atrophy Type 3 Opa3 Defect MGCA3 Mga, Type Iii Iraqi Jewish Optic Atrophy Plus Mga Type Iii Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia Iraqi-Jewish 'Optic Atrophy Plus' Optic Atrophy 3, Autosomal Recessive Opa3, Autosomal Recessive Opa3-Related 3-Methylglutaconic Aciduria Iraqi-Jewish Optic Atrophy Plus Atrophy Of Optic Disc 3-Alpha Methylglutaconic Aciduria Type Iii Optic Atrophy 3 Optic Atrophy Infantile With Chorea And Spastic Paraplegia Autosomal Recessive Opa3 Autosomal Recessive Optic Atrophy 3 3-Methylglutaconic Aciduria 3 3-Alpha-Methylglutaconic Aciduria Type 3 Optic Atrophy 3 Autosomal Recessive Atrophy, Optic Atrophy, Optic, Plus Syndrome Optic Nerve Atrophy Primary Optic Atrophy Oa - [Optic Atrophy] Second Cranial Nerve Atrophy Second Cranium Nerve Atrophy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07271	KIF1C Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	KIF1C	VGNC	VGNC:30593
Macaca mulatta	KIF1C	VGNC	VGNC:81427
Rattus norvegicus	KIF1C	RGD	RGD:70928
Mus musculus	KIF1C	MGD	MGI:1098260
Felis catus	KIF1C	VGNC	VGNC:67939
Canis familiaris	KIF1C	VGNC	VGNC:42393
Others	KIF1C	NCBI