TAFA1: A Chemokine-Like Protein with Roles in Neurodevelopment and Cancer
Comprehensive genomic and proteomic analysis of TAFA1 (FAM19A1), a member of the TAFA family involved in cell migration and signaling.
Gene Information Card
| Symbol | TAFA1 |
|---|---|
| Full Name | TAFA chemokine-like family member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 407738 ncbi.nlm.nih.gov/gene/407738 |
| Ensembl ID | ENSG00000198626 |
| UniProt ID | Q7Z5A9 |
| OMIM ID | 617495 |
| HGNC ID | 26236 |
| Aliases | FAM19A1, TAFA-1 |
Description
TAFA1 (FAM19A1) encodes a secreted chemokine-like protein belonging to the TAFA family. It is primarily expressed in the brain and plays roles in neurodevelopment, cell migration, and immune modulation. TAFA1 is also implicated in certain cancers and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorders | Altered TAFA1 expression may disrupt neuronal migration and synaptic function. | ClinVar, NCBI Gene |
| Glioblastoma | TAFA1 is downregulated in glioblastoma; loss may promote tumor cell invasion. | COSMIC, PubMed |
| Colorectal cancer | TAFA1 methylation and reduced expression correlate with poor prognosis. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 3.2 | Low |
| Lung | 1.1 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.7 | Neuronal model |
| U87MG (glioblastoma) | 2.1 | Downregulated vs normal brain |
| HEK293 | 0.3 | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.236C>T (p.Pro79Leu) | Missense | <0.01% | Unknown functional impact |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Predicted damaging (SIFT) |
| c.123_124insA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to truncated protein and loss of chemokine-like activity.
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)
| • chemokine activity (GO:0008009) | • extracellular space (GO:0005615) |
| • immune response (GO:0006955) | • nervous system development (GO:0007399) |
Pathways
• Chemokine signaling pathway (KEGG:04062)
• Cytokine-cytokine receptor interaction (KEGG:04060)
Protein Summary
TAFA1 is a 132-amino acid secreted protein containing a conserved TAFA domain. It shares structural homology with chemokines and is involved in cell migration, neurogenesis, and immune regulation. The protein is predominantly expressed in the central nervous system and is downregulated in several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TAFA1 Knockout HEK293 Cell Line | EDJ-KQ11816 | Human | 407738 | Details Get a Quote |
| TAFA1 Knockout HeLa Cell Line | EDJ-KQ60351 | Human | 407738 | Details Get a Quote |
| TAFA1 Knockout A-549 Cell Line | EDJ-KQ68818 | Human | 407738 | Details Get a Quote |
| TAFA1 Knockout HCT 116 Cell Line | EDJ-KQ77182 | Human | 407738 | Details Get a Quote |
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