MARF1: Meiosis Regulator and mRNA Stability Factor 1
Key regulator of oocyte meiosis and mRNA decay, implicated in female infertility and cancer
Gene Information Card
| Symbol | MARF1 |
|---|---|
| Full Name | Meiosis Regulator and mRNA Stability Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.11 |
| NCBI Gene ID | 96626 ncbi.nlm.nih.gov/gene/96626 |
| Ensembl ID | ENSG00000161960 |
| UniProt ID | Q8IY37 |
| OMIM ID | 614593 |
| HGNC ID | 29537 |
| Aliases | LARP7, LIMB1, FLJ11127 |
Description
MARF1 (Meiosis Regulator and mRNA Stability Factor 1) encodes a protein that functions as a regulator of meiotic progression in oocytes and as a factor involved in mRNA decay. It contains a La-related protein (LARP) domain and a LIM domain, and is essential for female fertility. Mutations in MARF1 are associated with premature ovarian failure and have been implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Premature ovarian failure 2A (POF2A) | Loss-of-function mutations impair meiotic arrest and oocyte maturation | OMIM #614593 |
| Premature ovarian failure 2B (POF2B) | Homozygous missense variants disrupt mRNA stability regulation | ClinVar |
| Ovarian dysgenesis | Defective meiosis due to MARF1 deficiency | NCBI Gene |
| Endometrial cancer | Somatic mutations and altered expression | COSMIC |
| Breast cancer | Overexpression and copy number alterations | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Ovary | 12.5 | Medium |
| Testis | 8.3 | Low |
| Endometrium | 6.7 | Low |
| Breast | 4.2 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| OVCAR-3 (ovarian cancer) | 15.8 | High expression |
| MCF-7 (breast cancer) | 9.4 | Moderate expression |
| HeLa (cervical cancer) | 7.1 | Low expression |
| K-562 (leukemia) | 3.2 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1942C>T (p.Arg648Ter) | Nonsense | Rare | Loss of function; associated with POF2A |
| c.1015G>A (p.Gly339Arg) | Missense | Rare | Impaired mRNA decay; POF2B |
| c.1234_1235del (p.Lys412GlufsTer5) | Frameshift | Rare | Loss of function; infertility |
| c.2567A>G (p.Asn856Ser) | Missense | Somatic (COSMIC) | Unknown significance; endometrial cancer |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein; cause premature ovarian failure
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • protein binding (GO:0005515) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
| • female meiosis (GO:0007140) | • spermatogenesis (GO:0007283) |
| • negative regulation of translation (GO:0017148) | • gene silencing by RNA (GO:0031047) |
| • oogenesis (GO:0048477) | • regulation of nuclear-transcribed mRNA catabolic process (GO:1900150) |
Pathways
• mRNA surveillance pathway (Reactome: R-HSA-72163)
• Meiotic recombination (Reactome: R-HSA-912446)
• RNA degradation (KEGG: hsa03018)
Protein Summary
The MARF1 protein (UniProt Q8IY37) is a 1036-amino acid protein containing an N-terminal La-related (LARP) domain and a C-terminal LIM domain. It localizes to the nucleus and cytoplasm, binds RNA, and regulates mRNA stability and translation. In oocytes, MARF1 is critical for meiotic arrest and progression. Its loss leads to female infertility due to premature ovarian failure.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MARF1 Knockout HEK293 Cell Line | EDJ-KQ6683 | Human | 9665 | Details Get a Quote |
| MARF1 Knockout A-549 Cell Line | EDJ-KQ31019 | Human | 9665 | Details Get a Quote |
| MARF1 Knockout HCT 116 Cell Line | EDJ-KQ31020 | Human | 9665 | Details Get a Quote |
| MARF1 Knockout HeLa Cell Line | EDJ-KQ31021 | Human | 9665 | Details Get a Quote |
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