KIF1C - kinesin family member 1C Gene

Homo sapiens

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

Gene ID: 10749 | Gene type: protein coding

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	Reference	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)

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

Bioactive Molecules (1)

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

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