FAM90A1: Family With Sequence Similarity 90 Member A1
A primate-specific gene with copy number variation and potential roles in cancer and immune function
Gene Information Card
| Symbol | FAM90A1 |
|---|---|
| Full Name | Family With Sequence Similarity 90 Member A1 |
| Gene Type | protein-coding |
| Chromosomal Location | 8p23.1 |
| NCBI Gene ID | 55138 ncbi.nlm.nih.gov/gene/55138 |
| Ensembl ID | ENSG00000197976 |
| UniProt ID | Q9Y3A2 |
| OMIM ID | 613042 |
| HGNC ID | HGNC:23582 |
| Aliases | FLJ11273, MGC138499 |
Description
FAM90A1 is a primate-specific protein-coding gene located on chromosome 8p23.1. It belongs to a gene family characterized by copy number variation in the human genome. The encoded protein has no well-characterized function but is thought to be involved in cellular processes such as proliferation and immune response. FAM90A1 is expressed in a variety of tissues and has been implicated in certain cancers and autoimmune conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression may promote tumor growth; exact mechanism unclear | COSMIC; NCBI Gene |
| Prostate cancer | Copy number gain observed; potential oncogenic role | COSMIC |
| Systemic lupus erythematosus | Copy number variation associated with disease risk | OMIM 613042 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 8.3 | Low |
| Thyroid | 6.1 | Low |
| Breast | 4.7 | Low |
| Prostate | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 5.2 | Moderate expression |
| PC3 (prostate cancer) | 4.1 | Low expression |
| K562 (leukemia) | 2.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | Rare | Potential loss of start codon; effect unknown |
| c.100C>T (p.Arg34Trp) | missense | 0.01% (gnomAD) | Unknown functional impact |
| c.250G>A (p.Gly84Ser) | missense | 0.005% (gnomAD) | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • molecular_function (GO:0003674) | • cellular_component (GO:0005575) |
| • biological_process (GO:0008150) |
Protein Summary
The FAM90A1 protein (UniProt Q9Y3A2) is 254 amino acids long with no known functional domains. It is predicted to be cytoplasmic and may be involved in protein-protein interactions. No enzymatic activity has been described.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FAM90A1 Knockout HEK293 Cell Line | EDJ-KQ13374 | Human | 55138 | Details Get a Quote |
| FAM90A10 Knockout HEK293 Cell Line | EDJ-KQ13379 | Human | 441328 | Details Get a Quote |
| FAM90A14 Knockout HEK293 Cell Line | EDJ-KQ13380 | Human | 645651 | Details Get a Quote |
| FAM90A16 Knockout HEK293 Cell Line | EDJ-KQ13381 | Human | 441323 | Details Get a Quote |
| FAM90A17 Knockout HEK293 Cell Line | EDJ-KQ13382 | Human | 728746 | Details Get a Quote |
| FAM90A18 Knockout HEK293 Cell Line | EDJ-KQ13383 | Human | 441326 | Details Get a Quote |
| FAM90A19 Knockout HEK293 Cell Line | EDJ-KQ13385 | Human | 728753 | Details Get a Quote |
| FAM90A10 Knockout A-549 Cell Line | EDJ-KQ41643 | Human | 441328 | Details Get a Quote |
| FAM90A16 Knockout HCT 116 Cell Line | EDJ-KQ41649 | Human | 441323 | Details Get a Quote |
| FAM90A19 Knockout A-549 Cell Line | EDJ-KQ41655 | Human | 728753 | Details Get a Quote |
| FAM90A10 Knockout HCT 116 Cell Line | EDJ-KQ42872 | Human | 441328 | Details Get a Quote |
| FAM90A10 Knockout HeLa Cell Line | EDJ-KQ42873 | Human | 441328 | Details Get a Quote |
| FAM90A14 Knockout A-549 Cell Line | EDJ-KQ42874 | Human | 645651 | Details Get a Quote |
| FAM90A14 Knockout HCT 116 Cell Line | EDJ-KQ42875 | Human | 645651 | Details Get a Quote |
| FAM90A14 Knockout HeLa Cell Line | EDJ-KQ42876 | Human | 645651 | Details Get a Quote |
Displaying Records 1 To 15 Of 28 Records
