Family Search for PF11819 (CUPID)
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PF11819 hits 9 sequences in PaperBLAST's database above the trusted cutoff. Showing all hits. Or show only hits to curated sequences or try another family.
FRM4A_HUMAN / Q9P2Q2 FERM domain-containing protein 4A from Homo sapiens (Human) (see 2 papers)
NP_060497 FERM domain-containing protein 4A isoform a from Homo sapiens
Aligns to 356:491 / 1039 (13.1%), covers 99.3% of PF11819, 201.2 bits
- function: Scaffolding protein that regulates epithelial cell polarity by connecting ARF6 activation with the PAR3 complex (By similarity). Plays a redundant role with FRMD4B in epithelial polarization (By similarity). May regulate MAPT secretion by activating ARF6-signaling (PubMed:27044754).
subunit: Interacts (via coiled-coil domain) with CYTH1 (via coiled-coil domain). Interacts with PARD3 (via coiled-coil domain). Found in a complex with PARD3, CYTH1 and FRMD4A. Interacts with CYTH2. Interacts with CYTH3. - Polymorphisms in the FRMD4A Gene Are Associated With Chronic Obstructive Pulmonary Disease Susceptibility in a Latin American Population.
Díaz-Peña, Archivos de bronconeumologia 2022 (PubMed)- GeneRIF: Polymorphisms in the FRMD4A Gene Are Associated With Chronic Obstructive Pulmonary Disease Susceptibility in a Latin American Population.", trans "Polimorfismos en el gen FRMD4A se asocian a riesgo de enfermedad pulmonar obstructiva cronica en poblacion latinoamericana.
- FRMD4A-cytohesin signaling modulates the cellular release of tau.
Yan, Journal of cell science 2016 (PubMed)- GeneRIF: FRMD4A RNAi or inhibition of cytohesins strongly upregulated secretion of endogenous tau. These results suggest that FRMD4A, a genetic risk factor for late-onset Alzheimer's disease, regulates tau secretion by activating cytohesin-Arf6 signaling.
- FRMD4A: A potential therapeutic target for the treatment of tongue squamous cell carcinoma.
Zheng, International journal of molecular medicine 2016 - GeneRIF: Findings suggest that FRMD4A expression correlates with the development of tongue squamous cell carcinoma.
- A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A.
Fine, European journal of human genetics : EJHG 2015 - GeneRIF: novel microcephaly, intellectual disability and dysmorphism syndrome is associated with a mutation in FRMD4A.
- Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease.
Lambert, Molecular psychiatry 2013 - GeneRIF: data suggest that FRMD4A could be a relevant candidate gene for AD risk.
- Large-scale genome-wide association study of Asian population reveals genetic factors in FRMD4A and other loci influencing smoking initiation and nicotine dependence.
Yoon, Human genetics 2012 - GeneRIF: A single nucleotide polymorphism in the FERM domain containing 4A protein is associated with nicotine dependence.
- FRMD4A upregulation in human squamous cell carcinoma promotes tumor growth and metastasis and is associated with poor prognosis.
Goldie, Cancer research 2012 - GeneRIF: findings suggest FRMD4A as a novel candidate therapeutic target in HNSCC based on the key role in metastatic growth we have identified
- A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
Grupe, American journal of human genetics 2006 - GeneRIF: Observational study of gene-disease association. (HuGE Navigator)
- More
- The Lyme disease bacterium, Borrelia burgdorferi, stimulates an inflammatory response in human choroid plexus epithelial cells.
Thompson, PloS one 2020 - “...with tight junction proteins (P24385) FRMD4A -0.3571 0.017093 Scaffolding ProteinRegulates epithelial cell polarity, adherens junctions (Q9P2Q2) CAPN2 -0.33762 0.047708 Protease; Negative regulation of junction and adhesive pathways (P17655) PALLD -0.30542 0.041217 Scaffolding/Cytoskeletal protein; Cell adhesion (Q8WX93) Discussion The neurological symptoms associated with Lyme disease are largely...”
- Human spermatozoa contain multiple targets for protein S-nitrosylation: an alternative mechanism of the modulation of sperm function by nitric oxide?
Lefièvre, Proteomics 2007 - “...protein homolog, mitochondrial precursor ES1_HUMAN P30042 28.5 3 13.1 2 FERM domain-containing protein 4A FRM4A_HUMAN Q9P2Q2 114.5 3 3.2 1 GRAM domain-containing protein 3 GRAM3_HUMAN Q96HH9 48.3 2 5.1 1 Hemicentin-1 precursor HMCN1_HUMAN Q96RW7 62.3 4 1.0 1 Kelch-like protein 10 KLH10_HUMAN Q6JEL2 69.9 2 3.6...”
FRM4A_MOUSE / Q8BIE6 FERM domain-containing protein 4A from Mus musculus (Mouse) (see paper)
Aligns to 341:476 / 1020 (13.3%), covers 99.3% of PF11819, 200.9 bits
- function: Scaffolding protein that regulates epithelial cell polarity by connecting ARF6 activation with the PAR3 complex (PubMed:20080746). Plays a redundant role with FRMD4B in epithelial polarization (PubMed:20080746). May regulate MAPT secretion by activating ARF6- signaling (By similarity).
subunit: Interacts (via coiled-coil domain) with CYTH1 (via coiled-coil domain) (PubMed:20080746). Interacts with PARD3 (via coiled-coil domain) (PubMed:20080746). Found in a complex with PARD3, CYTH1 and FRMD4A (PubMed:20080746). Interacts with CYTH2 (PubMed:20080746). Interacts with CYTH3 (PubMed:20080746).
NP_055938 FERM domain-containing protein 4B from Homo sapiens
Q9Y2L6 FERM domain-containing protein 4B from Homo sapiens
Aligns to 395:529 / 1034 (13.1%), covers 100.0% of PF11819, 190.3 bits
- Common variants in HSPB7 and FRMD4B associated with advanced heart failure.
Cappola, Circulation. Cardiovascular genetics 2010 - GeneRIF: SNP is located in a 3' intronic region of the FRMD4B gene. FRMD4B as novel susceptibility loci for advanced heart failure.
- Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey, Diabetes care 2010 - GeneRIF: Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
- Association of an intronic, but not any exonic, FRMD4B sequence variant and heart failure.
Matkovich, Clinical and translational science 2010 - GeneRIF: association between the intronic rs6787362 FRMD4B SNP and ischemic cardiomyopathy in a European-derived population, but not FRMD4B variants as susceptibility factors in common heart failure
- GeneRIF: Observational study of gene-disease association. (HuGE Navigator)
- Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud, American journal of human genetics 2009 - GeneRIF: Observational study of gene-disease association. (HuGE Navigator)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose, Molecular medicine (Cambridge, Mass.) - GeneRIF: Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
- In-depth PtdIns(3,4,5)P3 signalosome analysis identifies DAPP1 as a negative regulator of GPVI-driven platelet function.
Durrant, Blood advances 2017 - “...3 No Q15283 RASA2 Ras GTPase-activating protein 2 4.49e+8 131.0 34.7 27 76 3 No Q9Y2L6 FRMD4B FERM domaincontaining protein 4B/GRSP1 3.26e+8 554.8 32.0 28 230 3 No O95782 AP2A1 AP-2 complex subunit -1 2.96e+8 202.3 45.4 42 102 3 No Q92556 ELMO1 Engulfment and cell...”
NP_660130 FERM domain-containing protein 4B isoform 3 from Mus musculus
Aligns to 341:475 / 981 (13.8%), covers 100.0% of PF11819, 185.8 bits
FRM4B_MOUSE / Q920B0 FERM domain-containing protein 4B; GRP1-binding protein GRSP1; Golgi-associated band 4.1-like protein; GOBLIN from Mus musculus (Mouse) (see 2 papers)
Aligns to 395:529 / 1035 (13.0%), covers 100.0% of PF11819, 185.8 bits
- function: Member of GRP1 signaling complexes that are acutely recruited to plasma membrane ruffles in response to insulin receptor signaling. May function as a scaffolding protein that regulates epithelial cell polarity by connecting ARF6 activation with the PAR3 complex (PubMed:20080746). Plays a redundant role with FRMD4A in epithelial polarization (PubMed:20080746).
subunit: Interacts with CYTH3 (PubMed:11445584, PubMed:20080746). Interacts with PARD3 (PubMed:20080746). Interacts with CYTH1.
INAVA_MOUSE / Q7TN12 Innate immunity activator protein from Mus musculus (Mouse) (see paper)
Aligns to 87:216 / 663 (19.6%), covers 100.0% of PF11819, 182.3 bits
- function: Expressed in peripheral macrophages and intestinal myeloid- derived cells, is required for optimal PRR (pattern recognition receptor)-induced signaling, cytokine secretion, and bacterial clearance. Upon stimulation of a broad range of PRRs (pattern recognition receptor) such as NOD2 or TLR2, TLR3, TLR4, TLR5, TLR7 and TLR9, associates with YWHAQ/14-3-3T, which in turn leads to the recruitment and activation of MAP kinases and NF-kappa-B signaling complexes that amplifies PRR-induced downstream signals and cytokine secretion (By similarity). In the intestine, regulates adherens junction stability by regulating the degradation of CYTH1 and CYTH2, probably acting as substrate cofactor for SCF E3 ubiquitin-protein ligase complexes. Stabilizes adherens junctions by limiting CYTH1- dependent ARF6 activation (PubMed:29420262).
subunit: Interacts with IRAK1, NOD2 and RIPK2; the interaction takes place upon PRR stimulation. Interacts with YWHAQ/14-3-3T; the interaction increases upon PRR stimulation and is required for cellular signaling pathway activation and cytokine secretion. Interacts (via N- terminal domain) with CYTH1 and CYTH2 (via their N-terminal domains). Interacts with FBXW11 and BTRC; associates with SCF E3 ubiquitin- protein ligase complexes (By similarity).
disruption phenotype: After infection with Citrobacter rodentium, mutants show significantly increased bacterial loads at day 5 compared to wild-types. They are able to control the infection by day 12 post- infection, they exhibit significantly shortened colon length. They don't have impaired cytokine response (PubMed:29420262). Mutants also exhibit impaired recovery from dextran sodium sulfate-induces colitis, they show increased body weight loss and reduced colon length (PubMed:29420262).
INAVA_HUMAN / Q3KP66 Innate immunity activator protein from Homo sapiens (Human) (see 3 papers)
Aligns to 87:216 / 663 (19.6%), covers 100.0% of PF11819, 181.6 bits
- function: Expressed in peripheral macrophages and intestinal myeloid- derived cells, is required for optimal PRR (pattern recognition receptor)-induced signaling, cytokine secretion, and bacterial clearance. Upon stimulation of a broad range of PRRs (pattern recognition receptor) such as NOD2 or TLR2, TLR3, TLR4, TLR5, TLR7 and TLR9, associates with YWHAQ/14-3-3T, which in turn leads to the recruitment and activation of MAP kinases and NF-kappa-B signaling complexes that amplifies PRR-induced downstream signals and cytokine secretion (PubMed:28436939). In the intestine, regulates adherens junction stability by regulating the degradation of CYTH1 and CYTH2, probably acting as substrate cofactor for SCF E3 ubiquitin-protein ligase complexes. Stabilizes adherens junctions by limiting CYTH1- dependent ARF6 activation (PubMed:29420262).
subunit: Interacts with IRAK1, NOD2 and RIPK2; the interaction takes place upon PRR stimulation (PubMed:28436939). Interacts with YWHAQ/14- 3-3T; the interaction increases upon PRR stimulation and is required for cellular signaling pathway activation and cytokine secretion (PubMed:28436939). Interacts (via N-terminal domain) with CYTH1 and CYTH2 (via their N-terminal domains) (PubMed:29420262). Interacts with FBXW11 and BTRC; associates with SCF E3 ubiquitin-protein ligase complexes (PubMed:29420262).
CC120_HUMAN / Q96HB5 Coiled-coil domain-containing protein 120 from Homo sapiens (Human) (see 2 papers)
NP_001258765 coiled-coil domain-containing protein 120 isoform 3 from Homo sapiens
Aligns to 2:141 / 630 (22.2%), covers 99.3% of PF11819, 153.1 bits
- function: Centriolar protein required for centriole subdistal appendage assembly and microtubule anchoring in interphase cells (PubMed:28422092). Together with CCDC68, cooperate with subdistal appendage components ODF2, NIN and CEP170 for hierarchical subdistal appendage assembly (PubMed:28422092). Recruits NIN and CEP170 to centrosomes (PubMed:28422092). Also required for neurite growth. Localizes CYTH2 to vesicles to allow its transport along neurites, and subsequent ARF6 activation and neurite growth.
subunit: Interacts with NIN and CEP170; leading to recruit them to centrosomes (PubMed:28422092). Directly interacts with CYTH2; this interaction stabilizes CCDC120, possibly by preventing ubiquitination. - Multi-chaperone function modulation and association with cytoskeletal proteins are key features of the function of AIP in the pituitary gland.
Hernández-Ramírez, Oncotarget 2018 - “...] Q9BXL7 Caspase recruitment domain-containing protein 11 ( CARD11 ) 2H, co-IP [ 99 ] Q96HB5 Coiled-coil domain containing protein 120 ( CCDC120 ) AC-MS [ 100 ] Q16543 Hsp90 co-chaperone cell division cycle 37 ( CDC37 ) AC-L, AC-MS [ 101 ] P50750 Cyclin-dependent kinase...”
- Hierarchical assembly of centriole subdistal appendages via centrosome binding proteins CCDC120 and CCDC68.
Huang, Nature communications 2017 - GeneRIF: centrosome-binding proteins, coiled-coil domain containing (CCDC) 120 and CCDC68 are two novel subdistal appendages (SDA) components required for hierarchical SDA assembly in human cells.
- Arf6 guanine nucleotide exchange factor cytohesin-2 binds to CCDC120 and is transported along neurites to mediate neurite growth.
Torii, The Journal of biological chemistry 2014 - GeneRIF: Arf6 guanine nucleotide exchange factor cytohesin-2 binds to CCDC120 and is transported along neurites to mediate neurite growth.
CC120_MOUSE / A2AEV7 Coiled-coil domain-containing protein 120 from Mus musculus (Mouse) (see paper)
Aligns to 2:141 / 629 (22.3%), covers 98.5% of PF11819, 147.0 bits
- function: Centriolar protein required for centriole subdistal appendage assembly and microtubule anchoring in interphase cells (PubMed:28422092). Together with CCDC68, cooperate with subdistal appendage components ODF2, NIN and CEP170 for hierarchical subdistal appendage assembly (PubMed:28422092). Recruits NIN and CEP170 to centrosomes (PubMed:28422092). Also required for neurite growth (By similarity). Localizes CYTH2 to vesicles to allow its transport along neurites, and subsequent ARF6 activation and neurite growth (By similarity).
subunit: Interacts with NIN and CEP170; leading to recruit them to centrosomes (By similarity). Interacts with CYTH2; this interaction is direct and stabilizes CCDC120, possibly by preventing ubiquitination (By similarity).
Or search for genetic data about PF11819 in the Fitness Browser
by Morgan Price,
Arkin group
Lawrence Berkeley National Laboratory