KIF13A
Kinesin Family Member 13A
Gene Information Card
| Symbol | KIF13A |
|---|---|
| Full Name | kinesin family member 13A |
| Gene Type | protein-coding |
| Chromosomal Location | 6p22.3 |
| NCBI Gene ID | 63971 ncbi.nlm.nih.gov/gene/63971 |
| Ensembl ID | ENSG00000112658 |
| UniProt ID | Q9H1H9 |
| OMIM ID | 605433 |
| HGNC ID | 19997 |
| Aliases | DKFZp434B201, FLJ12649, KIF13 |
Description
KIF13A encodes a member of the kinesin-3 family of microtubule-based motor proteins. It functions in the transport of vesicles and organelles along microtubules, playing roles in endosome-to-plasma membrane recycling, melanosome transport, and cytokinesis. The protein contains an N-terminal motor domain, a coiled-coil stalk, and a C-terminal cargo-binding domain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered KIF13A expression may affect synaptic vesicle transport; genetic association studies suggest linkage | PMID: 20691468 |
| Bipolar disorder | Variants in KIF13A have been associated with bipolar disorder in genome-wide studies | PMID: 21926972 |
| Cancer (breast, lung) | Overexpression or mutation may alter mitotic spindle dynamics or vesicle trafficking contributing to tumorigenesis | COSMIC database |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Breast | 6.7 | Low |
| Testis | 15.2 | High |
| Kidney | 9.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Moderate expression |
| HeLa | 8.5 | Moderate expression |
| SH-SY5Y | 14.0 | High expression (neuronal) |
| MCF7 | 7.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% | Unknown functional effect; reported in ClinVar |
| c.2567A>G (p.Asn856Ser) | Missense | <0.01% | Reported in COSMIC; potential loss of function |
| c.345delG | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to truncated protein and loss of motor activity.
Gain of Function (GOF)
Not well characterized; some missense variants may alter cargo binding or processivity.
Dominant Negative (DN)
Not reported for KIF13A.
View complete mutation data：
Gene Ontology (GO)
| • microtubule motor activity | • ATP binding |
| • microtubule binding | • intracellular vesicle transport |
| • endosome to plasma membrane transport | • cytokinesis |
Pathways
• Kinesin-mediated vesicle transport
• Endosomal recycling
• Melanosome transport
Protein Summary
KIF13A is a kinesin-3 family motor protein that transports cargo along microtubules. It is involved in endosomal recycling, melanosome distribution, and cytokinesis. The protein is expressed in multiple tissues, with highest levels in testis and brain. Mutations are rare but may contribute to neuropsychiatric disorders and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KIF13A Knockout HEK293 Cell Line | EDJ-KQ13934 | Human | 63971 | Details Get a Quote |
| KIF13A Knockout A-549 Cell Line | EDJ-KQ43826 | Human | 63971 | Details Get a Quote |
| KIF13A Knockout HCT 116 Cell Line | EDJ-KQ43827 | Human | 63971 | Details Get a Quote |
| KIF13A Knockout HeLa Cell Line | EDJ-KQ43828 | Human | 63971 | Details Get a Quote |
