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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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FRMPD1
FERM and PDZ domain containing 1
Chromosome 9 · 9p13.2
NCBI Gene: 22844Ensembl: ENSG00000070601.10HGNC: HGNC:29159UniProt: Q5SYB0
22PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cell cortexprotein bindingregulation of G protein-coupled receptor signaling pathwayestablishment of protein localization to membraneCOVID-19preeclampsiasquamous cell carcinomamyeloid leukemia
✦AI Summary

FRMPD1 (FERM and PDZ domain containing 1) is a membrane-localization adaptor protein that regulates G-protein signaling through protein-protein interactions. Structurally, FRMPD1 contains conserved FERM and PDZ domains and binds to multiple signaling partners via a highly conserved ~20 residue fragment 1. Its primary function is to stabilize membrane-bound AGS3 (activator of G-protein signaling 3) and promote its interaction with Gαi proteins 2. FRMPD1 accomplishes this by binding to the TPR domain of AGS3 and positioning it at the cell cortex and membrane extensions, where it can interact with Gαi in a regulated manner 2. FRMPD1 also interacts with LGN (Leu-Gly-Asn repeat-enriched protein) through a conserved binding motif and competes with other LGN partners including mInsc and NuMA for TPR domain binding 34. In retinal photoreceptors, FRMPD1 expression is controlled by a cell type-specific alternative promoter regulated by rod-specific transcription factors NRL and CRX 5. Clinically, FRMPD1 has been identified as an independent prognostic marker for biochemical recurrence in prostate cancer patients 6, and genetic variants near FRMPD1 are associated with facial morphology variation 7.

Sources cited
1
FRMPD1 contains a conserved ~20 residue fragment necessary and sufficient to bind LGN-TPR motifs in an antiparallel manner
PMID: 23318951
2
FRMPD1 stabilizes AGS3 in membrane fractions and promotes its interaction with Gαi proteins at the cell cortex
PMID: 18566450
3
FRMPD1 interacts with LGN via a region homologous to mInsc-LBD and is effectively replaced by mInsc for LGN binding
PMID: 22074847
4
FRMPD1 binds LGN via a conserved core consensus sequence and makes contacts with LGN TPR1-6
PMID: 25664792
5
FRMPD1 is transcribed from an alternative promoter in rod photoreceptors regulated by NRL and CRX transcription factors
PMID: 30445545
6
FRMPD1 is an independent prognostic marker for biochemical recurrence in prostate cancer
PMID: 40525903
7
Genetic variants near FRMPD1 are associated with facial trait variation in genome-wide association studies
PMID: 37734486
Disease Associationsⓘ20
COVID-19Open Targets
0.29Weak
preeclampsiaOpen Targets
0.28Weak
squamous cell carcinomaOpen Targets
0.27Weak
myeloid leukemiaOpen Targets
0.21Weak
bipolar disorderOpen Targets
0.21Weak
HepatoblastomaOpen Targets
0.11Weak
ovarian dysfunctionOpen Targets
0.10Weak
lung cancerOpen Targets
0.07Suggestive
osteoporosisOpen Targets
0.05Suggestive
postmenopausal osteoporosisOpen Targets
0.05Suggestive
12q14 microdeletion syndromeOpen Targets
0.04Suggestive
pyknoachondrogenesisOpen Targets
0.04Suggestive
melorheostosisOpen Targets
0.04Suggestive
Dacryocystitis - osteopoikilosisOpen Targets
0.04Suggestive
dacryocystitis-osteopoikilosis syndromeOpen Targets
0.04Suggestive
gnathodiaphyseal dysplasiaOpen Targets
0.04Suggestive
osteomesopyknosisOpen Targets
0.04Suggestive
autosomal recessive hypophosphatemic ricketsOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GPSM2Protein interaction82%GPSM1Protein interaction72%RGS12Shared pathway33%RGS3Shared pathway33%GNG7Shared pathway33%RGS11Shared pathway25%
Tissue Expression6 tissues
Brain
100%
Liver
18%
Heart
15%
Ovary
7%
Lung
5%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
FRMPD1GPSM2GPSM1RGS12RGS3GNG7RGS11
PROTEIN STRUCTURE
Preparing viewer…
PDB4G2V · 2.40 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.75LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.60 [0.48–0.75]
RankingsWhere FRMPD1 stands among ~20K protein-coding genes
  • #13,665of 20,598
    Most Researched22
  • #5,975of 17,882
    Most Constrained (LOEUF)0.75
Genes detectedFRMPD1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Structural and biochemical characterization of the interaction between LGN and Frmpd1.
PMID: 23318951
J Mol Biol · 2013
1.00
2
Targeted deletion of an NRL- and CRX-regulated alternative promoter specifically silences FERM and PDZ domain containing 1 (Frmpd1) in rod photoreceptors.
PMID: 30445545
Hum Mol Genet · 2019
0.90
3
Identification of protein-coding genes associated with metastatic prostate cancer.
PMID: 40525903
Endocr Relat Cancer · 2025
0.80
4
The PDZ and band 4.1 containing protein Frmpd1 regulates the subcellular location of activator of G-protein signaling 3 and its interaction with G-proteins.
PMID: 18566450
J Biol Chem · 2008
0.70
5
Structural basis for interaction between the conserved cell polarity proteins Inscuteable and Leu-Gly-Asn repeat-enriched protein (LGN).
PMID: 22074847
Proc Natl Acad Sci U S A · 2011
0.60