FAM171A1
Family With Sequence Similarity 171 Member A1
Gene Information Card
| Symbol | FAM171A1 |
|---|---|
| Full Name | Family With Sequence Similarity 171 Member A1 |
| Gene Type | Protein coding |
| Chromosomal Location | 10p12.33 |
| NCBI Gene ID | 221061 ncbi.nlm.nih.gov/gene/221061 |
| Ensembl ID | ENSG00000148773 |
| UniProt ID | Q5VUQ3 |
| OMIM ID | 617462 |
| HGNC ID | 28476 |
| Aliases | C10orf38, FLJ23861, MGC131831 |
Description
FAM171A1 (Family With Sequence Similarity 171 Member A1) is a protein-coding gene located on chromosome 10p12.33. The encoded protein is predicted to be involved in cellular signaling and may play a role in neuronal development. Limited functional data are available; expression is enriched in brain tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No confirmed disease associations | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Brain (cerebellum) | 10.2 | Medium |
| Testis | 8.1 | Low |
| Heart | 3.4 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | Neuronal model |
| HEK293 (embryonic kidney) | 6.7 | Common expression |
| HeLa (cervical carcinoma) | 4.5 | Low expression |
| K562 (leukemia) | 1.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% (gnomAD) | Unknown functional impact |
| c.452A>G (p.Asn151Ser) | Missense | <0.01% (gnomAD) | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • plasma membrane (GO:0005886) |
| • integral component of membrane (GO:0016021) |
Pathways
• Not assigned to any curated pathway
Protein Summary
FAM171A1 encodes a 366-amino acid protein with a predicted transmembrane domain. The protein is localized to the plasma membrane and may participate in cell-cell communication. Its exact biological function remains largely uncharacterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FAM171A1 Knockout HEK293 Cell Line | EDJ-KQ8794 | Human | 221061 | Details Get a Quote |
| FAM171A1 Knockout A-549 Cell Line | EDJ-KQ35079 | Human | 221061 | Details Get a Quote |
| FAM171A1 Knockout HCT 116 Cell Line | EDJ-KQ35080 | Human | 221061 | Details Get a Quote |
| FAM171A1 Knockout HeLa Cell Line | EDJ-KQ35081 | Human | 221061 | Details Get a Quote |
