PMFBP1: Polyamine Modulated Factor 1 Binding Protein 1
A gene encoding a protein involved in spermatogenesis and male fertility, with potential roles in cancer and cellular signaling.
Gene Information Card
| Symbol | PMFBP1 |
|---|---|
| Full Name | Polyamine Modulated Factor 1 Binding Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 83449 ncbi.nlm.nih.gov/gene/83449 |
| Ensembl ID | ENSG00000140937 |
| UniProt ID | Q8TCT0 |
| OMIM ID | 618085 |
| HGNC ID | 26189 |
| Aliases | FLJ20297, MGC138290, MGC138291, PMF-1BP, PP3856 |
Description
PMFBP1 encodes a protein that binds to polyamine modulated factor 1 (PMF1), a transcription factor involved in polyamine metabolism and cell proliferation. The PMFBP1 protein is predominantly expressed in testis and plays a critical role in spermatogenesis, particularly in sperm head formation and flagellar assembly. Mutations in PMFBP1 are associated with male infertility due to acephalic spermatozoa syndrome. The gene is also implicated in certain cancers through dysregulation of polyamine signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acephalic spermatozoa syndrome | Loss-of-function mutations in PMFBP1 disrupt sperm head-tail junction formation, leading to production of spermatozoa lacking heads. | ClinVar, OMIM |
| Male infertility (non-obstructive azoospermia) | PMFBP1 deficiency impairs spermatogenesis, resulting in reduced or absent sperm production. | NCBI Gene, OMIM |
| Prostate cancer | Altered PMFBP1 expression may influence polyamine metabolism and tumor growth; specific mechanism under investigation. | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 27.8 | High |
| Fallopian tube | 4.2 | Low |
| Prostate | 3.1 | Low |
| Thyroid | 2.5 | Low |
| Adrenal gland | 1.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 0.5 | Low expression |
| HeLa | 0.3 | Low expression |
| K562 | 0.1 | Not detected |
| Testis (primary) | 28.0 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; truncates protein, associated with acephalic spermatozoa syndrome |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Loss of function; premature stop codon, linked to male infertility |
| c.890G>A (p.Arg297Gln) | Missense | 0.001% (gnomAD) | Uncertain significance; may affect protein binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in PMFBP1 cause premature termination of translation, leading to a truncated or absent protein. This disrupts spermatogenesis and results in acephalic spermatozoa syndrome.
Gain of Function (GOF)
No gain-of-function mutations have been reported for PMFBP1.
Dominant Negative (DN)
No dominant-negative mutations have been described for PMFBP1.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) | • spermatogenesis (GO:0007283) |
| • cell differentiation (GO:0030154) | • perinuclear region of cytoplasm (GO:0048471) |
Pathways
• Polyamine metabolism (Reactome: R-HSA-351202)
• Spermatogenesis (KEGG: hsa04750)
Protein Summary
The PMFBP1 protein (UniProt Q8TCT0) is a 678-amino acid polypeptide with a molecular mass of approximately 76 kDa. It contains a nuclear localization signal and is predominantly cytoplasmic in perinuclear regions. The protein interacts with PMF1 and may modulate polyamine-responsive transcription. In testis, PMFBP1 localizes to the manchette and centrosome, essential for sperm head-tail coupling. Structural predictions indicate coiled-coil domains that mediate protein-protein interactions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PMFBP1 Knockout HEK293 Cell Line | EDJ-KQ9845 | Human | 83449 | Details Get a Quote |
| PMFBP1 Knockout HCT 116 Cell Line | EDJ-KQ36701 | Human | 83449 | Details Get a Quote |
| PMFBP1 Knockout HeLa Cell Line | EDJ-KQ36702 | Human | 83449 | Details Get a Quote |
| PMFBP1 Knockout A-549 Cell Line | EDJ-KQ65943 | Human | 83449 | Details Get a Quote |
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