Gene
NEK1
NIMA related kinase 1
- HGNC 7744(opens in a new tab)
- Ensembl gene ENSG00000137601(opens in a new tab)
- NCBI Gene 4750(opens in a new tab)
Summary
- Cytogenetic location
- 4q33
- Coordinates
- Chromosome 4: 169,392,809–169,612,583 (GRCh38)
- Exons
- 36 exons across 219.8 kb
- Protein
- 1,286 amino acids
- Also known as
- NY-REN-55, KIAA1901
- MANE Select transcript
- ENST00000507142.6NM_001199397.3
- 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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No Genome Test report reads NEK1 yet. The test sequences your whole genome, so your data includes it all the same.
How NEK1 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 6.1 kb of the gene's 219.8 kb; 3,861 of those bases code for the protein.
How a genome test reads NEK1
81
positions in NEK1 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 219.8 kb of NEK1, introns included, not only the 6.1 kb of exons.
Traits linked to NEK1
The Human Phenotype Ontology lists these as features of the rare conditions NEK1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Cleft palate
- Abnormal oral frenulum morphology
- Absent central incisor
- Accessory oral frenulum
- Broad nasal tip
- Bumpy tongue
- Central cleft upper lip
- Cleft nasal tip
Show 26 more traits
- Cleft tongue
- Corners of eye widely separated
- Decreased salivary flow
- Decreased size of maxilla
- Decreased size of teeth
- Depressed nasal bridge
- Drooling
- Hamartoma of tongue
- High palate
- Little lower jaw
- Submucous cleft soft palate
- Tongue nodules
- Wasting of the tongue
- Wide nasal bridge
- Zygomatic flattening
- Abnormally small tongue
- Broad head shape
- Central retinal vessel vascular tortuosity
- Extra bones within cranial sutures
- Extra cusp on inside of front tooth
- Peg-shaped maxillary lateral incisors
- Taurodontia
- Tongue twitching
- Unilateral alveolar cleft of maxilla
- Velopharyngeal incompetence
- Born with teeth
Abnormality of the nervous system
- Increased reflexes
- Lou Gehrig's disease
- Motor neuron atrophy
- Ongoing loss of nerve cells
- Anxiety
- Babinski sign
- Behavioral abnormality
- Bulbar signs
Show 25 more traits
- Can't control feelings
- Caudate atrophy
- Cognitive impairment
- Depression
- Difficulty articulating speech
- Hippocampal atrophy
- Hoffmann sign
- Muscle twitch
- Paralysis
- Tetraparesis
- Cavity within brain
- Cerebellar vermis hypoplasia
- Difficulty sleeping
- Fewer and broader ridges in brain
- Fluid-filled sac located in membrane surrounding brain or spinal cord
- Frontotemporal dementia
- Global developmental delay
- High stepping
- Jaw hyperreflexia
- Language impairment
- Lateral ventricle dilatation
- Too much cerebrospinal fluid in the brain
- Delayed speech and language development
- Grand mal seizures
- Motor delay
Abnormality of limbs
- Broad big toe
- Complete duplication of big toe bones
- Curvature of finger
- Curvature of little finger
- Decreased arm strength
- Extra little finger
- Extra thumb
- Extra toe attached near the little toe
Show 23 more traits
- Finger syndactyly
- Flared wide portion of long bone
- Irregular wide portion of a long bone
- Lower limb muscle weakness
- Preaxial foot polydactyly
- Short fingers or toes
- Wide 1st long bone of foot
- Y-shaped long bone of hand
- Cone-shaped end part of finger bones
- Extra finger
- Foot drop
- Limb undergrowth
- Mesomelic leg shortening
- Polysyndactyly of hallux
- Short shinbone
- Webbed fingers or toes
- Absent fingers or toes
- Bilateral postaxial polydactyly
- Disproportionate shortening of the shankbone
- Disproportionately short middle portion of limb
- Partial duplication of big toe
- Postaxial polysyndactyly of foot
- Short palm
Abnormality of the respiratory system
- Abnormality on pulmonary function testing
- Breathing difficulty
- Respiratory failure
- Respiratory function loss
- Apnea
- Hypoplasia of the epiglottis
- Increased respiratory rate or depth of breathing
- Orthopnea
Show 3 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.
- 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.). NEK1 gene: NIMA related kinase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/nek1
Dante Labs. NEK1 gene: NIMA related kinase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/nek1
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