KIF1C kinesin family member 1C [Homo sapiens (human)] - Gene

Summary

Official Symbol: KIF1Cprovided by HGNC
Official Full Name: kinesin family member 1Cprovided by HGNC
Primary source: HGNC:HGNC:6317
See related: Ensembl:ENSG00000129250 MIM:603060; AllianceGenome:HGNC:6317
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SAX2; LTXS1; SATX2; SPAX2; SPG58
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]
Expression: Ubiquitous expression in heart (RPKM 51.8), fat (RPKM 28.5) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.2

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (4997950..5028401)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (4888274..4918727)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (4901245..4931696)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

KIF1C and new Huntingtin-interacting protein 1 binding proteins regulate rheumatoid arthritis fibroblast-like synoviocytes' phenotypes.
Title: KIF1C and new Huntingtin-interacting protein 1 binding proteins regulate rheumatoid arthritis fibroblast-like synoviocytes' phenotypes.
Intracellular transport: KIF1C produces force along with a few slips.
Title: Intracellular transport: KIF1C produces force along with a few slips.
Force generation of KIF1C is impaired by pathogenic mutations.
Title: Force generation of KIF1C is impaired by pathogenic mutations.
c-Src-mediated phosphorylation and activation of kinesin KIF1C promotes elongation of invadopodia in cancer cells.
Title: c-Src-mediated phosphorylation and activation of kinesin KIF1C promotes elongation of invadopodia in cancer cells.
Whole exome sequencing identified a homozygous KIF1C variant in both patients
Title: KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins.
The authors analyze the previously identified kinesin inhibitor binding sites and identify features of AZ82 that favor binding to one of the sites, the alpha4/alpha6 site. This selectivity can be explained by unique structural features of the KIFC1 alpha4/alpha6 binding site.
Title: Structural basis of small molecule ATPase inhibition of a human mitotic kinesin motor protein.
Study demonstrates that PTPN21 activates KIF1C by binding to the stalk region. This function does not require catalytic activity of the phosphatase, and its N-terminal FERM domain alone is sufficient to stimulate the transport of KIF1C cargoes in cells as well as increasing the landing rate of KIF1C on microtubules in vitro. The cargo adapter Hook3 binds KIF1C in the same region and activates KIF1C in a similar way.
Title: PTPN21 and Hook3 relieve KIF1C autoinhibition and activate intracellular transport.
Hereditary spastic paraplegia (HSP) patients with KIF1C mutations may present with cerebellar signs and pyramidal findings may emerge later, therefore complicated HSP should be considered in the differential diagnosis of unidentified cases with cerebellar dysfunction.
Title: Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span.
Rab6A binding to KIF1C's motor domain represents an entirely new mode of regulation for a kinesin motor, and likely has important consequences for KIF1C's cellular functions.
Title: Rab6 regulation of the kinesin family KIF1C motor domain contributes to Golgi tethering.
KIF1C translocation to the cell periphery intensifies and KIF1C accumulates both in the proximity of peripheral microtubules that show enrichment for the plus-tip-associated proteins CLASPs and around podosomes.
Title: Podosome-regulating kinesin KIF1C translocates to the cell periphery in a CLASP-dependent manner.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Spastic ataxia 2 MedGen: C1969796 OMIM: 611302 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
capsid	gag	The ability of exogenously expressed FEZ1 binding to kinesin-1 to promote early HIV-1 infection, leading to the movement of HIV-1 CA core to the nucleus	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

KIF1C_9173 (e-PCR)
- UniSTS:468491

GDB:434012 (e-PCR)
- UniSTS:157204

sY3084 (e-PCR)
- UniSTS:515126

D17S1580 (e-PCR)
- UniSTS:151876

RH98900 (e-PCR)
- UniSTS:87998

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IBA Inferred from Biological aspect of Ancestor more info
enables RNA binding	HDA more info	PubMed
enables cytoskeletal motor activity	TAS Traceable Author Statement more info	PubMed
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables plus-end-directed microtubule motor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in anterograde neuronal dense core vesicle transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in retrograde neuronal dense core vesicle transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in retrograde neuronal dense core vesicle transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	TAS Traceable Author Statement more info	PubMed
involved_in vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	TAS Traceable Author Statement more info	PubMed
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info
located_in axon cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
is_active_in dendrite	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	TAS Traceable Author Statement more info	PubMed
part_of kinesin complex	IBA Inferred from Biological aspect of Ancestor more info
is_active_in microtubule	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: kinesin-like protein KIF1C

Names: spastic ataxia 2 (autosomal recessive)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_034137.1 RefSeqGene

Range

5003..35454

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_006612.6 → NP_006603.2 kinesin-like protein KIF1C

See identical proteins and their annotated locations for NP_006603.2

Status: REVIEWED

Source sequence(s)

AC012146, BC034993, BC040307, BM458656

Consensus CDS

CCDS11065.1

UniProtKB/Swiss-Prot

D3DTL6, O43896, O75186, Q5U618

Related

ENSP00000320821.5, ENST00000320785.10

Conserved Domains (3) summary

cd00060
Location:499 → 599

FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...

cd01365
Location:4 → 355

KISc_KIF1A_KIF1B; Kinesin motor domain, KIF1_like proteins

pfam16183
Location:352 → 522

Kinesin_assoc; Kinesin-associated

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

4997950..5028401

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005256424.3 → XP_005256481.1 kinesin-like protein KIF1C isoform X1

See identical proteins and their annotated locations for XP_005256481.1

UniProtKB/Swiss-Prot

D3DTL6, O43896, O75186, Q5U618

Conserved Domains (3) summary

cd00060
Location:499 → 599

FHA; Forkhead associated domain (FHA); found in eukaryotic and prokaryotic proteins. Putative nuclear signalling domain. FHA domains may bind phosphothreonine, phosphoserine and sometimes phosphotyrosine. In eukaryotes, many FHA domain-containing proteins ...

cd01365
Location:4 → 355

KISc_KIF1A_KIF1B; Kinesin motor domain, KIF1_like proteins

pfam16183
Location:352 → 522

Kinesin_assoc; Kinesin-associated