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Gene

KIF1A

kinesin family member 1A

Summary

Cytogenetic location
2q37.3
Coordinates
Chromosome 2: 240,713,767–240,820,219 (GRCh38)
Exons
49 exons across 106.5 kb
Protein
1,791 amino acids
Also known as
UNC104
Previous symbols
ATSV, C2orf20, SPG30
MANE Select transcript
ENST00000498729.9NM_001244008.2
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)

    • Hereditary Sensory and Autonomic Neuropathy

      A group of neuropathies, including familial dysautonomia (ELP1), HSAN1 (SPTLC1/SPTLC2), HSAN2 (WNK1, RETREG1) and congenital insensitivity to pain (NTRK1, SCN9A, PRDM12), most of which are recessive while HSAN1 is dominant.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Protection against unnoticed injuries, burns and infections, management of autonomic symptoms, and carrier testing for relatives (familial dysautonomia is included in Ashkenazi Jewish carrier screening).

Broader groupings

  • 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.

      • 3 GenCC submitters rate it definitive or strong

  • Intellectual Disability

    • One of 233 genes linked to it

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong

How KIF1A is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where KIF1A sits. KIF1A and 17 genes near it on chromosome 2, from 240,266,993 to 241,266,992.Chromosome 22q37.3p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3240.4 Mb240.6 Mb240.8 Mb241 Mb241.2 MbGPC1: 240,435,434–240,468,115, forward strandGPC1ANKMY1: 240,479,422–240,569,209, reverse strandANKMY1DUSP28: 240,560,054–240,565,256, forward strandDUSP28RNPEPL1: 240,565,804–240,581,372, forward strandRNPEPL1CAPN10: 240,586,366–240,618,845, forward strandCAPN10GPR35: 240,605,404–240,633,159, forward strandGPR35AQP12B: 240,676,418–240,682,906, reverse strandAQP12BAQP12A: 240,691,866–240,698,483, forward strandAQP12AKIF1A: 240,713,767–240,820,219, reverse strandKIF1AAGXT: 240,868,543–240,881,531, forward strandAGXTMAB21L4: 240,886,048–240,896,894, reverse strandMAB21L4CROCC2: 240,906,330–240,993,311, forward strandCROCC2SNED1: 240,998,612–241,095,579, forward strandSNED1MTERF4: 241,072,169–241,102,332, reverse strandMTERF4PASK: 241,106,094–241,150,852, reverse strandPASKPPP1R7: 241,149,549–241,183,652, forward strandPPP1R7ANO7: 241,188,509–241,227,338, forward strandANO7HDLBP: 241,227,264–241,317,061, reverse strandHDLBPDiagram of KIF1A: 49 exons on the reverse strand of chromosome 2Exon 46: 3 known disease-causing sitesExon 44: 1 known disease-causing siteExon 43: 3 known disease-causing sitesExon 42: 2 known disease-causing sitesExon 41: 1 known disease-causing siteExon 37: 1 known disease-causing siteExon 35: 1 known disease-causing siteExon 30: 2 known disease-causing sitesExon 27: 1 known disease-causing siteExon 26: 1 known disease-causing siteExon 25: 3 known disease-causing sitesExon 22: 2 known disease-causing sitesExon 21: 2 known disease-causing sitesExon 20: 1 known disease-causing siteExon 15: 1 known disease-causing siteExon 13: 6 known disease-causing sitesExon 12: 7 known disease-causing sitesExon 11: 9 known disease-causing sitesExon 9: 12 known disease-causing sitesExon 8: 14 known disease-causing sitesExon 7: 10 known disease-causing sitesExon 6: 16 known disease-causing sitesExon 4: 18 known disease-causing sitesExon 3: 1 known disease-causing siteExon 2: 12 known disease-causing sitesExon 49: 240,713,767–240,717,406, 3,640 basesExon 48: 240,718,050–240,718,168, 119 basesExon 47: 240,719,006–240,719,198, 193 basesExon 46: 240,719,774–240,719,926, 153 basesExon 45: 240,720,914–240,721,038, 125 basesExon 44: 240,721,807–240,721,884, 78 basesExon 43: 240,722,456–240,722,656, 201 basesExon 42: 240,723,413–240,723,558, 146 basesExon 41: 240,723,975–240,724,036, 62 basesExon 40: 240,725,271–240,725,404, 134 basesExon 39: 240,726,826–240,726,940, 115 basesExon 38: 240,737,063–240,737,168, 106 basesExon 37: 240,740,058–240,740,142, 85 basesExon 36: 240,740,298–240,740,364, 67 basesExon 35: 240,741,269–240,741,377, 109 basesExon 34: 240,742,929–240,742,984, 56 basesExon 33: 240,743,942–240,744,060, 119 basesExon 32: 240,745,427–240,745,517, 91 basesExon 31: 240,745,738–240,745,909, 172 basesExon 30: 240,746,039–240,746,177, 139 basesExon 29: 240,747,236–240,747,321, 86 basesExon 28: 240,750,429–240,750,547, 119 basesExon 27: 240,757,319–240,757,594, 276 basesExon 26: 240,758,360–240,758,497, 138 basesExon 25: 240,760,665–240,760,843, 179 basesExon 24: 240,761,229–240,761,377, 149 basesExon 23: 240,762,719–240,762,812, 94 basesExon 22: 240,763,019–240,763,091, 73 basesExon 21: 240,763,166–240,763,346, 181 basesExon 20: 240,765,710–240,765,793, 84 basesExon 19: 240,766,915–240,767,021, 107 basesExon 18: 240,767,266–240,767,345, 80 basesExon 17: 240,769,133–240,769,208, 76 basesExon 16: 240,769,627–240,769,706, 80 basesExon 15: 240,770,971–240,771,104, 134 basesExon 14: 240,772,570–240,772,596, 27 basesExon 13: 240,773,114–240,773,256, 143 basesExon 12: 240,774,183–240,774,261, 79 basesExon 11: 240,775,851–240,775,926, 76 basesExon 10: 240,782,590–240,782,607, 18 basesExon 9: 240,783,044–240,783,109, 66 basesExon 8: 240,783,739–240,783,816, 78 basesExon 7: 240,784,989–240,785,100, 112 basesExon 6: 240,786,335–240,786,513, 179 basesExon 5: 240,787,251–240,787,316, 66 basesExon 4: 240,788,051–240,788,230, 180 basesExon 3: 240,789,236–240,789,312, 77 basesExon 2: 240,797,647–240,797,812, 166 basesExon 1: 240,820,122–240,820,219, 98 bases494540353025201510515′3′

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 9.1 kb of the gene's 106.5 kb; 5,376 of those bases code for the protein.

How a genome test reads KIF1A

156

positions in KIF1A where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 106.5 kb of KIF1A, introns included, not only the 9.1 kb of exons.

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

APA

Dante Labs. (n.d.). KIF1A gene: kinesin family member 1A. Retrieved 17 October 2026, from https://dantelabs.com/genes/kif1a

Vancouver

Dante Labs. KIF1A gene: kinesin family member 1A [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/kif1a

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