1. Gene
  2. KIF1C - kinesin family member 1C Gene

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

KIF1C Protein Structure

Kinesin

Kinesin: Kinesin motor domain (11 - 348)

FHA

FHA: FHA domain (525 - 590)

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  • 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

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