Gene
KIF1C
kinesin family member 1C
- HGNC 6317↗(opens in a new tab)
- Ensembl gene ENSG00000129250↗(opens in a new tab)
- NCBI Gene 10749↗(opens in a new tab)
Summary
- Cytogenetic location
- 17p13.2
- Coordinates
- Chromosome 17: 4,997,950–5,028,401 (GRCh38)
- Exons
- 23 exons across 30.5 kb
- Protein
- 1,103 amino acids
- Also known as
- SPAX2, SPG58
- Previous symbols
- SAX2
- MANE Select transcript
- ENST00000320785.10NM_006612.6
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Hereditary Spastic Paraplegia
- Hereditary Spastic Paraplegia (All Types)
One of 66 genes linked to it
Umbrella term covering all hereditary spastic paraplegias, including SPG4 (SPAST), the most common dominant form, and SPG5A, SPG6, SPG10, SPG18, SPG30 and SPG31.
- 2 GenCC submitters rate it definitive or strong
How KIF1C is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 7.9 kb of the gene's 30.5 kb; 3,312 of those bases code for the protein.
How a genome test reads KIF1C
26
positions in KIF1C where ClinVar classes a change as pathogenic or likely pathogenic
4 of them (15%) fall in regions short reads find hard.
- Segmental duplications (4 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.
A whole genome covers all 30.5 kb of KIF1C, introns included, not only the 7.9 kb of exons.
Genes linked to the same conditions
- ABCD1ATP binding cassette subfamily D member 1Shares 1 condition
- ABHD16Aabhydrolase domain containing 16A, phospholipaseShares 1 condition
- ALDH18A1aldehyde dehydrogenase 18 family member A1Shares 1 condition
- AMFRautocrine motility factor receptorShares 1 condition
- AP4B1adaptor related protein complex 4 subunit beta 1Shares 1 condition
- AP4E1adaptor related protein complex 4 subunit epsilon 1Shares 1 condition
- AP4M1adaptor related protein complex 4 subunit mu 1Shares 1 condition
- AP4S1adaptor related protein complex 4 subunit sigma 1Shares 1 condition
- AP5Z1adaptor related protein complex 5 subunit zeta 1Shares 1 condition
- ARL6IP1ARL6 interacting reticulophagy regulator 1Shares 1 condition
- ATL1atlastin GTPase 1Shares 1 condition
- ATP13A2ATPase cation transporting 13A2Shares 1 condition
Traits linked to KIF1C
The Human Phenotype Ontology lists these as features of the rare conditions KIF1C can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Difficulty articulating speech
- Inability to coordinate movements when walking
- Lack of coordination of movement
- Abnormal cerebral white matter morphology
- Head titubation
- Increased reflexes
- Muscle twitch
- Overactive lower leg reflex
Show 17 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). KIF1C gene: kinesin family member 1C. Retrieved 17 October 2026, from https://dantelabs.com/genes/kif1c
Dante Labs. KIF1C gene: kinesin family member 1C [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/kif1c
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