KIFC1
protein-codingkinesin family member C1, the group of Kinesins
Gene summary
Predicted to enable ATP hydrolysis activity; microtubule binding activity; and minus-end-directed microtubule motor activity. Involved in mitotic metaphase chromosome alignment and mitotic spindle assembly. Located in membrane. [provided by Alliance of Genome Resources, Jul 2025]
- KNSL2
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~18.1 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to KIFC1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_002263.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 5 | 1 | 6 | |||
| missense | 87 | 16 | 103 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 93 | 17 | 0 | 110 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_002254.2 | 11 | MANE Select | |
| Ensembl | ENSP00000393963.2 | 11 | MANE Select | |
| Ensembl | ENSP00000409539.1 | 7 | Standard | |
| Ensembl | ENSP00000484508.1 | 3 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Vesicle-mediated transport
- Membrane Trafficking
- Kinesins
- Factors involved in megakaryocyte development and platelet production
- Hemostasis
Biological Process
- mitotic sister chromatid segregation
- microtubule-based movement
- mitotic metaphase plate congression
- spermatogenesis
- cell division
Molecular Function
- microtubule motor activity
- ATP binding
- microtubule binding
- ATPase activity
Cellular Component
- nucleus
- early endosome
- microtubule organizing center
- kinesin complex
- microtubule
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000428849
- Coding exons
- 11
- Length
- 18389
- Individuals with no LoFs
- 125679
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 69
- Defined
- 125748
- p
- 0.000274
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.68 | 311 | 406 | 0.765 | 0.0000258 | 4278 |
| Missense (PolyPhen) | 105 | 159.97 | 0.65638 | 1647 | ||
| Synonymous | -0.149 | 160 | 158 | 1.02 | 0.00000821 | 1473 |
| Loss of Function | 3.27 | 11 | 30.5 | 0.361 | 0.00000161 | 334 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00025 | 0.00025 | rare |
| Latino/Admixed American | 0.00014 | 0.00014 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00011 | 0.00011 | rare |
| Finnish | 0.00057 | 0.00051 | rare |
| European (Non-Finnish) | 0.00034 | 0.00033 | rare |
| South Asian | 0.00020 | 0.00020 | rare |
| Other | 0.00052 | 0.00049 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Minus end-directed microtubule-dependent motor required for bipolar spindle formation (PubMed:15843429). May contribute to movement of early endocytic vesicles (By similarity). Regulates cilium formation and structure (By similarity). {ECO:0000250|UniProtKB:Q9QWT9, ECO:0000269|PubMed:15843429}.;
Intolerance Scores
- LoFtool
- 0.646
- RVIS EVS
- 1.09
- RVIS percentile EVS
- 91.87
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- H
- Indispensability pred.
- E
- Indispensability score
- 0.953
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |