TAPT1: Transmembrane anterior posterior transformation 1
A gene encoding a transmembrane protein involved in axial skeletal development and ciliogenesis, with mutations linked to skeletal dysplasias.
Gene Information Card
| Symbol | TAPT1 |
|---|---|
| Full Name | Transmembrane anterior posterior transformation 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 4p15.32 |
| NCBI Gene ID | 202018 ncbi.nlm.nih.gov/gene/202018 |
| Ensembl ID | ENSG00000138684 |
| UniProt ID | Q6NXY4 |
| OMIM ID | 612399 |
| HGNC ID | 26896 |
| Aliases | MCPH7, FLJ20254, C4orf15 |
Description
TAPT1 (transmembrane anterior posterior transformation 1) encodes a conserved transmembrane protein that localizes to the primary cilium and is essential for axial skeletal patterning. Mutations in TAPT1 cause autosomal recessive skeletal dysplasia with craniofacial anomalies and microcephaly. The protein is involved in ciliogenesis and Hedgehog signaling, critical for anterior-posterior axis formation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Skeletal dysplasia with craniofacial anomalies and microcephaly | Loss-of-function mutations in TAPT1 disrupt ciliary function and Hedgehog signaling, impairing axial skeletal development. | OMIM #616897; PMID: 26029707 |
| Primary microcephaly (MCPH7) | Biallelic TAPT1 variants lead to reduced brain size, likely due to defective ciliary signaling in neural progenitors. | OMIM #612399; PMID: 26029707 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 3.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | Embryonic kidney cell line |
| HeLa | 10.7 | Cervical carcinoma cell line |
| K562 | 7.2 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.646C>T (p.Arg216*) | Nonsense | Rare | Premature stop, loss of function |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein translation |
| c.1048G>A (p.Gly350Arg) | Missense | Rare | Impaired ciliary localization |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations cause complete loss of TAPT1 protein, leading to skeletal dysplasia and microcephaly.
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)
| • protein binding (GO:0005515) | • cilium (GO:0005929) |
| • cilium assembly (GO:0060271) | • smoothened signaling pathway (GO:0007224) |
| • anterior/posterior pattern specification (GO:0009952) |
Pathways
• Hedgehog signaling pathway (Reactome: R-HSA-5358351)
• Cilium assembly (Reactome: R-HSA-5620912)
Protein Summary
TAPT1 is a 502-amino-acid transmembrane protein with multiple membrane-spanning domains. It localizes to the primary cilium and is required for ciliogenesis and Hedgehog signal transduction. The protein is highly conserved across vertebrates and plays a critical role in anterior-posterior axis formation during embryonic development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TAPT1 Knockout HEK293 Cell Line | EDJ-KQ5025 | Human | 202018 | Details Get a Quote |
| TAPT1 Knockout HeLa Cell Line | EDJ-KQ27936 | Human | 202018 | Details Get a Quote |
| TAPT1 Knockout HCT 116 Cell Line | EDJ-KQ26712 | Human | 202018 | Details Get a Quote |
| TAPT1 Knockout A-549 Cell Line | EDJ-KQ67508 | Human | 202018 | Details Get a Quote |
