KIAA0753
A centrosomal protein involved in ciliogenesis and associated with skeletal ciliopathies
Gene Information Card
| Symbol | KIAA0753 |
|---|---|
| Full Name | KIAA0753 |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 9851 ncbi.nlm.nih.gov/gene/9851 |
| Ensembl ID | ENSG00000198920 |
| UniProt ID | Q8IYA6 |
| OMIM ID | 617112 |
| HGNC ID | 29107 |
| Aliases | OFD16, MCPH23, FLJ20010, dJ366L4.1 |
Description
KIAA0753 encodes a centrosomal protein that localizes to the centrosome and ciliary basal body. It is essential for primary cilia formation and maintenance, playing a role in the Sonic Hedgehog (SHH) signaling pathway. Mutations in this gene cause orofaciodigital syndrome XVI (OFD16) and autosomal recessive primary microcephaly (MCPH23).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Orofaciodigital syndrome XVI | Loss-of-function mutations impair ciliogenesis, disrupting SHH signaling and craniofacial development | ClinVar, OMIM |
| Autosomal recessive primary microcephaly 23 | Biallelic mutations lead to reduced centrosome number and impaired neurogenesis | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.5 | Medium |
| Lung | 6.2 | Low |
| Kidney | 5.1 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cell line |
| HeLa | 7.4 | Cervical cancer cell line |
| SH-SY5Y | 6.8 | Neuroblastoma cell line |
| HepG2 | 4.5 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.211C>T (p.Arg71*) | Nonsense | Rare | Loss of function; associated with OFD16 |
| c.1462C>T (p.Arg488*) | Nonsense | Rare | Loss of function; associated with MCPH23 |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; associated with OFD16 |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent protein, impairing ciliogenesis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • centrosome | • cilium assembly |
| • ciliary basal body | • protein binding |
| • Sonic hedgehog signaling pathway |
Pathways
• Ciliogenesis
• Sonic Hedgehog (SHH) signaling
Protein Summary
KIAA0753 is a 1036-amino-acid protein containing a coiled-coil domain and localizes to the centrosome and ciliary basal body. It interacts with other centrosomal proteins (e.g., CEP290, OFD1) to facilitate cilia formation. The protein is highly conserved in vertebrates and is essential for embryonic development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KIAA0753 Knockout HEK293 Cell Line | EDJ-KQ6777 | Human | 9851 | Details Get a Quote |
| KIAA0753 Knockout HeLa Cell Line | EDJ-KQ29885 | Human | 9851 | Details Get a Quote |
| KIAA0753 Knockout A-549 Cell Line | EDJ-KQ31239 | Human | 9851 | Details Get a Quote |
| KIAA0753 Knockout HCT 116 Cell Line | EDJ-KQ31240 | Human | 9851 | Details Get a Quote |
