Family Search for PF15787 (DUF4704)
April 2024: See Interactive Tools for Functional Annotation of Bacterial Genomes for advice on using these tools.
PF15787 hits 25 sequences in PaperBLAST's database above the trusted cutoff. Showing all hits. Or show only hits to curated sequences or try another family.
NP_001284878 rugose, isoform P from Drosophila melanogaster
Aligns to 675:1159 / 3446 (14.1%), covers 99.8% of PF15787, 684.4 bits
- Drosophila mutants of the autism candidate gene neurobeachin (rugose) exhibit neuro-developmental disorders, aberrant synaptic properties, altered locomotion, and impaired adult social behavior and activity patterns.
Wise, Journal of neurogenetics 2015 - GeneRIF: adult rg loss-of-function mutants exhibit defective social interactions, impaired habituation, aberrant locomotion, and hyperactivity.
- Drosophila rugose is a functional homolog of mammalian Neurobeachin and affects synaptic architecture, brain morphology, and associative learning.
Volders, The Journal of neuroscience : the official journal of the Society for Neuroscience 2012 - GeneRIF: This study demonistrated that functional homologies between Drosophila Rugose and mammalian NBEA that will help clarify the role of BEACH proteins in the development and function of the CNS in vivo.
- Mutations in rugose promote cell type-specific apoptosis in the Drosophila eye.
Wech, Cell death and differentiation 2005 (PubMed)- GeneRIF: Rugose (rg) plays an important role in the integration of different signals required for the exact regulation of cone cell development and survival.
- Mutation in rugose gene locus affects the pigment cell number and alters the optic lobe phenotype in the Drosophila visual system.
Shamloula, Journal of the Egyptian Society of Parasitology 2003 (PubMed)- GeneRIF: results suggest that rugose gene encodes a secondary pigment cell specific function, and plays an essential role in determining the optic lobe's structure
- rugose (rg), a Drosophila A kinase anchor protein, is required for retinal pattern formation and interacts genetically with multiple signaling pathways.
Shamloula, Genetics 2002 - GeneRIF: results suggest that rg is required for correct retinal pattern formation and may function in cell fate determination through its interactions with the EGFR and Notch signaling pathways
- Drosophila spoonbill encodes a dual-specificity A-kinase anchor protein essential for oogenesis.
Hadad, Mechanisms of development (PubMed)- GeneRIF: Drosophila spoonbill encodes a dual-specificity A-kinase anchor protein essential for oogenesis.
NBEA_DROME / Q9W4E2 Neurobeachin; A-kinase anchor protein 550; AKAP 550; Protein rugose; dAKAP550 from Drosophila melanogaster (Fruit fly) (see 6 papers)
Aligns to 629:1123 / 3466 (14.3%), covers 99.8% of PF15787, 668.8 bits
- function: Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the membrane. May anchor the kinase to cytoskeletal and/or organelle-associated proteins. Required for correct retinal pattern formation and may function in cell fate determination through its interactions with the EGFR and Notch signaling pathways. Required for associative odor learning and short-term memory. Involved in development of the neuromuscular junction and the mushroom body.
subunit: Interacts with RII subunit of PKA and components of the EGFR- mediated and Notch-mediated signaling pathways.
disruption phenotype: Mutants are viable and fertile but display a rough eye surface phenotype, impaired short-term memory, aberrant associative odor learning, aberrant neuromuscular junction morphology with increased numbers of synaptic boutons, and defective axonal morphology of the Kenyon cells, the neurons of the mushroom body.
LOC107445612 neurobeachin from Parasteatoda tepidariorum
Aligns to 428:914 / 3172 (15.4%), covers 99.8% of PF15787, 661.8 bits
XP_017213453 neurobeachin isoform X9 from Danio rerio
Aligns to 463:943 / 2223 (21.6%), covers 99.8% of PF15787, 614.0 bits
NBEA_HUMAN / Q8NFP9 Neurobeachin; Lysosomal-trafficking regulator 2; Protein BCL8B from Homo sapiens (Human) (see 2 papers)
Aligns to 467:947 / 2946 (16.3%), covers 99.8% of PF15787, 608.7 bits
- function: Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the membrane. May anchor the kinase to cytoskeletal and/or organelle-associated proteins (By similarity).
subunit: Interacts with RII subunit of PKA. - Salivary proteins offer insights into keratinocyte death during aphthous stomatitis. A case-crossover study.
Cofré-Leiva, BMC oral health 2023 - “...Is a transcription factor in the unfolded protein response (UPR) pathway during ER stress. NBEA (Q8NFP9) (-) (-) (+) Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the membrane. FAM83E (Q2M2I3) (-) (-) (+) Enables protein kinase binding activity. Predicted...”
- Quantitative proteomics analysis in small cell carcinoma of cervix reveals novel therapeutic targets.
Qiu, Clinical proteomics 2023 - “...PARP14 Protein mono-ADP-ribosyltransferase PARP14 PAR14_HUMAN 5.051141315 33.15469584 0.044442 0.163637227 9322.803161 309,094.7032 113,391.6547 370,861.0882 178,506.0581 263,836.9669 Q8NFP9 NBEA Neurobeachin NBEA_HUMAN 4.967745586 31.29251235 0.028754464 0.130171978 1074.147766 33,612.78223 5972.771382 43,643.51539 7428.877063 37,508.36122 P12314 FCGR1A High affinity immunoglobulin gamma Fc receptor I FCGR1_HUMAN 4.913751049 30.14299885 0.005041107 0.052147793 2469.903321 74,450.29297 2881.553874...”
- Targeted proteomic approach in prostatic tissue: a panel of potential biomarkers for cancer detection
Aiello, Oncoscience 2016 - “...protein involved in cell-cell-interactions exocytosis of secretory granules and regulation of signal transmission 416 87. Q8NFP9 NBEA Neurobeachin * 578 327822 cytoplasm and peripheral membrane protein localization anchoring/targeting kinase A to the membrane 359 88. Q6KC79 NIPBL Nipped-B-like protein * 809 316051 nucleus involved in sister...”
- A survey of membrane proteins in human serum.
Dung, Proteomics insights 2012 - “...Acetylation, Phosphoprotein 0.456091 1 124 B2RTY4 Myosin-IXa 54 9 294918 Unclear Phosphoprotein 0.623980 0 125 Q8NFP9 Neurobeachin 53 6 330066 Plasma membrane Phosphoprotein 0.188358 2 126 P21359 Neurofibromin isoform 1 43 10 322760 Plasma membrane Disulfide bond,GPI-anchor, Glycoprotein, Lipoprotein 0.136950 4 127 Q9H2E3 Neuropilin-2b(5) 53 6...”
- Systems analysis of endothelial cell plasma membrane proteome of rat lung microvasculature.
Li, Proteome science 2011 - “...JS40001709 Q6RJR6 Reticulon 3 protein [ 26 ] 2 416.78 golgi; ER many tissues JS40039470 Q8NFP9 Neurobeachin [ 20 ] 1.85 Peripheral membrane, cytoplasm Predominant in many brain structures. Also in many other tissues JS40011947 P21263 Nestin [ 25 ] 1.17 unknown CNS stem cell Protein...”
Q5T321 Neurobeachin from Homo sapiens
Aligns to 467:947 / 2967 (16.2%), covers 99.8% of PF15787, 608.7 bits
NBEA_MOUSE / Q9EPN1 Neurobeachin; Lysosomal-trafficking regulator 2 from Mus musculus (Mouse) (see paper)
Aligns to 457:937 / 2936 (16.4%), covers 99.8% of PF15787, 607.8 bits
- function: Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the membrane. May anchor the kinase to cytoskeletal and/or organelle-associated proteins. May have a role in membrane trafficking.
subunit: Interacts with RII subunit of PKA. - Proteomic Analysis of Protective Effects of Dl-3-n-Butylphthalide against mpp + -Induced Toxicity via downregulating P53 pathway in N2A Cells
Zhao, Proteome science 2023 - “...0.033823 Q9EQF6 Dpysl5 Dihydropyrimidinase-related protein 5 0.026023 Q9EQ32 Pik3ap1 Phosphoinositide 3-kinase adapter protein 1 6.46E-05 Q9EPN1 Nbea Neurobeachin 0.002423 Q9EPC1 Parva Alpha-parvin 0.017161 Q9DCT8 Crip2 Cysteine-rich protein 2 0.004128 Q9DCJ5 Ndufa8 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8 0.006871 Q9DBJ3 Baiap2l1 Brain-specific angiogenesis inhibitor 1-associated...”
- Proteomic Assessment of C57BL/6 Hippocampi after Non-Selective Pharmacological Inhibition of Nitric Oxide Synthase Activity: Implications of Seizure-like Neuronal Hyperexcitability Followed by Tauopathy
Hendrickx, Biomedicines 2022 - “...Brain acid soluble protein 1 0.591 0.0232 Q9Z2X1 Hnrnpf Heterogeneous nuclear ribonucleoprotein F 0.972 0.0232 Q9EPN1 Nbea Neurobeachin 1 0.0232 Q99KB8 Hagh Hydroxyacylglutathione hydrolase, mitochondrial 0.79 0.0232 Q8BLK3 Lsamp Limbic system-associated membrane protein 0.447 0.0232 Q91VR8 Brk1 Protein BRICK1 0.636 0.0232 P11438 Lamp1 Lysosome-associated membrane glycoprotein...”
- Doublecortin facilitates the elongation of the somatic Golgi apparatus into proximal dendrites.
Li, Molecular biology of the cell 2021 - “...kinase signaling inhibitor 1 8.1 28 0.29 Q91Z31 Polypyrimidine tract-binding protein 2 3.47 11 0.32 Q9EPN1 Neurobeachin 2.32 7 0.33 P97450 ATP synthase-coupling factor 6, mitochondrial 3.47 10 0.35 P26040 Ezrin 3.47 9 0.39 Q8K3G9 DCC-interacting protein 13-beta 6.95 18 0.39 O70133 ATP-dependent RNA helicase A...”
- A Neuroprotective Dose of Isatin Causes Multilevel Changes Involving the Brain Proteome: Prospects for Further Research.
Medvedev, International journal of molecular sciences 2020 - “...inhibitors, required for normal synaptic plasticity and regulation of serine protease mediated cell death 15 Q9EPN1 NBEA 5.62 10 9 3.393 Neurobeachin A protein required for central synapses formation and functioning 16 P22599 A1AT2 5.78 10 9 2.595 Alpha-1-antitrypsin 1-2 A member of serine protease inhibitors,...”
- The Possible Role of Neurobeachin in Extinction of Contextual Fear Memory.
Lee, Scientific reports 2018 - “...B precursor 4 1.54 IPI00659932 Q3UVX5 GRM5 Metabotropic glutamate receptor 5 precursor 2 1.56 IPI00320831 Q9EPN1 NBEA Neurobeachin 3 1.63 IPI00403890 O88448 KLC1 kinesin light chain 1 isoform 1D 2 1.67 IPI00420136 O70492 SNX3 Sorting nexin 3 4 1.69 Significantly changed proteins are listed. The control...”
- Proteomic analyses of limbic regions in neonatal male, female and androgen receptor knockout mice
Zettergren, BMC neuroscience 2017 - “...proteomics Proteins Uniprot accession nr Fold change a p value b Scaffolders and adaptors Neurobeachin Q9EPN1 1.09 0.022 G-proteins and modulators Neuromodulin P06837 1.1 0.002 Septin-7 O55131 1.1 0.002 Cytoskeletal and cell adhesion Myristoylated alanine-rich C-kinase substrate P26645 1.22 0.007 Neurochondrin Q9Z0E0 1.12 0.049 Transcription and...”
NBEA_CAEEL / Q19317 Putative neurobeachin homolog; Suppressor enhancer of lin-12 from Caenorhabditis elegans (see paper)
NP_497939 Putative neurobeachin homolog from Caenorhabditis elegans
Aligns to 539:1024 / 2507 (19.4%), covers 99.8% of PF15787, 597.2 bits
- function: Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the membrane. May anchor the kinase to cytoskeletal and/or organelle-associated proteins (By similarity). Regulates endosomal traffic in polarized epithelial cells such as the vulval precursor cells and intestinal cells. Thought to act as a negative regulator of lin-12 activity in vulval precursor cells. May have a role in the internalization process from basolateral surface of polarized epithelial cells.
subunit: Interacts with RII subunit of PKA.
disruption phenotype: Worms lacking sel-2 exhibit a multivulva phenotype when combined with loss of lin-12. - SEL-2, the C. elegans neurobeachin/LRBA homolog, is a negative regulator of lin-12/Notch activity and affects endosomal traffic in polarized epithelial cells.
de, Development (Cambridge, England) 2007 (PubMed)- GeneRIF: sel-2 is involved in endosomal traffic and may be involved in efficient delivery of cell surface proteins to the lysosome.
E1BND6 LPS responsive beige-like anchor protein from Bos taurus
Aligns to 442:922 / 2845 (16.9%), covers 99.8% of PF15787, 582.9 bits
LRBA_MOUSE / Q9ESE1 Lipopolysaccharide-responsive and beige-like anchor protein; Beige-like protein from Mus musculus (Mouse) (see paper)
Aligns to 441:921 / 2856 (16.8%), covers 99.8% of PF15787, 580.6 bits
XP_006502410 lipopolysaccharide-responsive and beige-like anchor protein isoform X1 from Mus musculus
Aligns to 441:921 / 2871 (16.8%), covers 99.8% of PF15787, 580.6 bits
- A circular RNA produced by LRBA promotes cirrhotic mouse liver regeneration through facilitating the ubiquitination degradation of p27.
Xu, Liver international : official journal of the International Association for the Study of the Liver 2023 (PubMed)- GeneRIF: A circular RNA produced by LRBA promotes cirrhotic mouse liver regeneration through facilitating the ubiquitination degradation of p27.
- LRBA Deficiency Can Lead to Lethal Colitis That Is Diminished by SHIP1 Agonism.
Sudan, Frontiers in immunology 2022 - GeneRIF: LRBA Deficiency Can Lead to Lethal Colitis That Is Diminished by SHIP1 Agonism.
- LRBA is essential for urinary concentration and body water homeostasis.
Hara, Proceedings of the National Academy of Sciences of the United States of America 2022 - GeneRIF: LRBA is essential for urinary concentration and body water homeostasis.
- Enhanced susceptibility to chemically induced colitis caused by excessive endosomal TLR signaling in LRBA-deficient mice.
Wang, Proceedings of the National Academy of Sciences of the United States of America 2019 - GeneRIF: Lrba (-/-) DCs exhibited excessive IRF3/7- and PI3K/mTORC1-dependent signaling.
- Murine LRBA deficiency causes CTLA-4 deficiency in Tregs without progression to immune dysregulation.
Burnett, Immunology and cell biology 2017 - GeneRIF: these studies revealed that LRBA has a critical, cell-autonomous role in promoting cytotoxic T-lymphocyte antigen-4 accumulation within CD4 effector T cells and FOXP3+ T-regulatory cells
- Immunological phenotype of the murine Lrba knockout.
Gámez-Díaz, Immunology and cell biology 2017 (PubMed)- GeneRIF: Lrba-/- mice displayed decreased cytotoxic T-lymphocyte-associated protein-4 expression by regulatory T cells and activated conventional CD4+ and CD8+ T lymphocytes, reduced frequency of peritoneal B-1a cells along with diminished interleukin-10 production and increased percentages of T follicular helper cells in Peyer's patches, but without developing overt signs of autoimmunity
- The BEACH Protein LRBA Promotes the Localization of the Heterotrimeric G-protein Golf to Olfactory Cilia.
Kurtenbach, Scientific reports 2017 - GeneRIF: LRBA role in olfaction.LRBA is expressed in olfactory and vomeronasal sensory neurons.LRBA is required for the efficient subcellular localization of a lipid-anchored protein, and of a ciliary protein.
- The BEACH protein LRBA is required for hair bundle maintenance in cochlear hair cells and for hearing.
Vogl, EMBO reports 2017 - GeneRIF: LRBA deficiency is associated with a reduced abundance of radixin and Nherf2, two adaptor proteins, which are important for the mechanical stability of the basal taper region of stereocilia.
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LRBA_HUMAN / P50851 Lipopolysaccharide-responsive and beige-like anchor protein; Beige-like protein; CDC4-like protein from Homo sapiens (Human) (see 4 papers)
Aligns to 441:921 / 2863 (16.8%), covers 99.8% of PF15787, 579.5 bits
- function: Involved in coupling signal transduction and vesicle trafficking to enable polarized secretion and/or membrane deposition of immune effector molecules (By similarity). Involved in phagophore growth during mitophagy by regulating ATG9A trafficking to mitochondria (PubMed:33773106).
subunit: Interacts with TOM1 and TOLLIP. - Blood Proteome Profiling Reveals Biomarkers and Pathway Alterations in Fragile X PM at Risk for Developing FXTAS.
Zafarullah, International journal of molecular sciences 2023 - “...0.00238 0.035172 Fatty acid synthase 147 O14735 CDIPT 1.07 13.53 0.002395 0.035172 CDP-diacylglycerol-inositol 3-phosphatidyltransferase 148 P50851 LRBA 0.23 13.29 0.002403 0.035172 Lipopolysaccharide-responsive and beige-like anchor protein 149 Q86VM9 ZC3H18 0.36 12.91 0.002455 0.035476 Zinc finger CCCH domain-containing protein 18 150 Q9NZK5 ADA2 0.19 13.15 0.002466 0.035476...”
- Ellagic Acid Triggers the Necrosis of Differentiated Human Enterocytes Exposed to 3-Nitro-Tyrosine: An MS-Based Proteomic Study
Díaz-Velasco, Antioxidants (Basel, Switzerland) 2022 - “...reorganization P35580 Lipopolysaccharide-responsive and beige-like anchor protein LRBA 0.026 0.70 Vesicle trafficking of immune effector P50851 AP-1 complex subunit sigma-1A AP1S1 0.002 0.71 Related to clathrin P61966 DNA-directed RNA polymerase II subunit RPB2 POLR2B 0.008 0.71 Component of RNA polymerase II P30876 Histone H2B tipo 1-L...”
- Hyperthermia enhances the efficacy of chemotherapeutic drugs in heat-sensitive cells through interfering with DNA damage repair.
Ni, Annals of translational medicine 2022 - “...factor 1 0.8315 A6NHR9 SMCHD1 Structural maintenance of chromosomes flexible hinge domain-containing protein 1 0.831 P50851 LRBA Lipopolysaccharide-responsive and beige-like anchor protein 0.8215 Q12873 CHD3 Chromodomain-helicase-DNA-binding protein 3 0.821 Q6DKK2 TTC19 Tetratricopeptide repeat protein 19, mitochondrial 0.8205 O60942 RNGTT mRNA-capping enzyme 0.8115 Q8N3C0 ASCC3 Activating signal...”
- Proteome and functional decline as platelets age in the circulation.
Allan, Journal of thrombosis and haemostasis : JTH 2021 - “...P50402 Emerin 0.0123 1.3903 2.6213 RPN1 P04843 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 1 0.0382 1.3777 2.5985 LRBA P50851 Lipopolysaccharide-responsive and beige-like anchor protein 0.0113 1.3209 2.4982 ST13 P50502 Hsc70-interacting protein 0.0053 1.3129 2.4844 HADHB P55084 Trifunctional enzyme subunit beta, mitochondrial 0.0224 1.2607 2.3961 PHB2 J3KPX7 Prohibitin-2 0.0096 1.2222...”
- Oral Glucose Mobilizes Triglyceride Stores From the Human Intestine
Xiao, Cellular and molecular gastroenterology and hepatology 2019 - “...0.3117 .0193 Transcription/RNA processing/translation O76094 Signal recognition particle subunit SRP72 SRP72 0.317 .0088 Transcription/RNA processing/translation P50851 Lipopolysaccharide-responsive and beige-like anchor protein LRBA 0.3239 .0462 Immune response Q13409 Cytoplasmic dynein 1 intermediate chain 2 DYNC1I2 0.3304 .0080 Cytoskeleton Q6P2Q9 Premessenger RNA-processing-splicing factor 8 PRPF8 0.3428 .0263 Transcription/RNA...”
- β-Catenin Knockdown Affects Mitochondrial Biogenesis and Lipid Metabolism in Breast Cancer Cells
Vergara, Frontiers in physiology 2017 - “...Signal recognition particle 19 kDa protein P09132 2 25.7 LRBA Lipopolysaccharide-responsive and beige-like anchor protein P50851 11 5.4 NUCB2 Nucleobindin-2 P80303 6 24 NPTN Neuroplastin Q9Y639 4 12.4 ARPC4 Actin-related protein 2/3 complex subunit 4 P59998 8 51.4 SCAMP1 Secretory carrier-associated membrane protein 1 O15126 4...”
- Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.
van, Clinical immunology (Orlando, Fla.) 2015 - “...side chain) and the side chain of Arg2397. Amino acid numbering corresponds to UniProt entry P50851, isoform 2. (b) Solution NMR structure of the SH2 domain of SH3BP2 (PDB 2CR4; UniProt P78314, isoform 4). The side chain of Arg534 is exposed on the protein surface and...”
- A survey of membrane proteins in human serum.
Dung, Proteomics insights 2012 - “...kidney disease type II protein 47 4 110462 Endoplasmic reticulum membrane Glycoprotein 0.328512 8 28 P50851 Beige-like protein; CDC4L protein 57 18 320076 Plasma membrane Acetylation, Phosphoprotein 0.201817 0 29 Q76KP1 Beta-1,4-N-acetyl-galactosaminyl transferase 4 39 10 116954 Golgi apparatus membrane Glycoprotein 0.597691 0 30 Q01082 Beta-spectrin...”
- “...Acetylation 0.206097 0 111 Q86UK5 Limbin 41 5 148825 Plasma membrane Glycoprotein 0.445185 2 112 P50851 Lipopolysaccharide-responsive and beige-like anchor protein 63 10 321639 Plasma membrane Acetylation, Phosphoprotein 0.201817 0 113 Q9HCF6 Long transient receptor potential channel 3 75 10 196157 Plasma membrane Unknown 0.300924 6...”
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BCHB_ARATH / F4I9T0 BEACH domain-containing protein B; BEACH-domain homolog B from Arabidopsis thaliana (Mouse-ear cress) (see paper)
Aligns to 693:1208 / 2604 (19.8%), covers 98.8% of PF15787, 556.2 bits
- function: May be involved in the suppression of BCHC1 activity.
disruption phenotype: No visible phenotype.
AT2G45540 WD-40 repeat family protein / beige-related from Arabidopsis thaliana
2 alignments in 650:1294 / 2946 (16.3%), covering up to 60.7% of PF15787, 218.3 bits
M8CRZ8 Uncharacterized protein from Aegilops tauschii
2 alignments in 740:1370 / 3075 (17.3%), covering up to 61.1% of PF15787, 205.2 bits
BCHC1_ARATH / F4JD14 BEACH domain-containing protein C1; BEACH-domain homolog C1 from Arabidopsis thaliana (Mouse-ear cress) (see paper)
2 alignments in 318:863 / 1941 (25.5%), covering up to 54.5% of PF15787, 202.0 bits
- function: May act as a negative factor in protein storage vacuole (PSV) trafficking regulation and plant effector triggered immunity (ETI). Negatively regulated upon interaction with GSF12, and also probably by BCHB. Required for ETI, but not for cell death.
subunit: Interacts (via BEACH-type PH domain) with GFS12 (via protein kinase 2 domain).
disruption phenotype: No visible phenotype.
NBEL1_HUMAN / Q6ZS30 Neurobeachin-like protein 1; Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 16 protein; Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 17 protein from Homo sapiens (Human) (see paper)
Aligns to 854:1291 / 2694 (16.3%), covers 62.3% of PF15787, 114.9 bits
XP_011509960 neurobeachin-like protein 1 isoform X1 from Homo sapiens
Aligns to 883:1320 / 2736 (16.0%), covers 62.3% of PF15787, 114.7 bits
NP_899099 neurobeachin-like protein 2 from Mus musculus
Aligns to 872:1318 / 2750 (16.3%), covers 87.7% of PF15787, 114.1 bits
- Defective Zn2+ homeostasis in mouse and human platelets with α- and δ-storage pool diseases.
Kiran, Scientific reports 2019 - GeneRIF: Defective Zn(2+) homeostasis in mouse and human platelets with alpha- and delta-storage pool diseases.
- Nbeal2 Deficiency Increases Organ Damage but Does Not Affect Host Defense During Gram-Negative Pneumonia-Derived Sepsis.
Claushuis, Arteriosclerosis, thrombosis, and vascular biology 2018 (PubMed)- GeneRIF: Nbeal2 deficiency-resulting in gray platelet syndrome-affects platelets, neutrophils, and monocytes, with intact host defense but increased organ damage during gram-negative pneumosepsis.
- NBEAL2 (Neurobeachin-Like 2) Is Required for Retention of Cargo Proteins by α-Granules During Their Production by Megakaryocytes.
Lo, Arteriosclerosis, thrombosis, and vascular biology 2018 (PubMed)- GeneRIF: NBEAL2 is required for the retention of both endocytosed and megakaryocyte-synthesized proteins by maturing alpha-granules, and possibly by platelet-borne granules. This function may involve interaction of NBEAL2 with P-selectin.
- NBEAL2 is required for neutrophil and NK cell function and pathogen defense.
Sowerby, The Journal of clinical investigation 2017 - GeneRIF: NBEAL2 has an essential role in neutrophil and NK cell function and pathogen defense
- The Neurobeachin-like 2 Protein Regulates Mast Cell Homeostasis.
Drube, Journal of immunology (Baltimore, Md. : 1950) 2017 (PubMed)- GeneRIF: this study shows that Nbeal2 regulates mast cell homeostasis
- Spontaneous 8bp Deletion in Nbeal2 Recapitulates the Gray Platelet Syndrome in Mice.
Tomberg, PloS one 2016 - GeneRIF: Spontaneous 8bp Deletion in Nbeal2 Recapitulates the Gray Platelet Syndrome in Mice
- Abnormal megakaryocyte development and platelet function in Nbeal2(-/-) mice.
Kahr, Blood 2013 - GeneRIF: NBEAL2 is required for normal platelet function and megakaryocyte development.
NBEL2_DANRE / E7FAW3 Neurobeachin-like protein 2 from Danio rerio (Zebrafish) (Brachydanio rerio) (see paper)
Aligns to 910:1232 / 2801 (11.5%), covers 54.5% of PF15787, 113.4 bits
- function: Involved in thrombopoiesis. Plays a role in the development or secretion of alpha-granules, that contain several growth factors important for platelet biogenesis.
Q6ZQA0 Neurobeachin-like protein 2 from Mus musculus
Aligns to 872:1230 / 2742 (13.1%), covers 57.6% of PF15787, 112.5 bits
NBEL2_HUMAN / Q6ZNJ1 Neurobeachin-like protein 2 from Homo sapiens (Human) (see 3 papers)
NP_055990 neurobeachin-like protein 2 isoform 1 from Homo sapiens
Aligns to 873:1172 / 2754 (10.9%), covers 57.4% of PF15787, 96.7 bits
- function: Probably involved in thrombopoiesis. Plays a role in the development or secretion of alpha-granules, that contain several growth factors important for platelet biogenesis.
- NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells.
Delage, Nature communications 2023 - GeneRIF: NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells.
- Gray platelet syndrome: NBEAL2 mutations are associated with pathology beyond megakaryocyte and platelet function defects.
Pluthero, Journal of thrombosis and haemostasis : JTH 2021 (PubMed)- GeneRIF: Gray platelet syndrome: NBEAL2 mutations are associated with pathology beyond megakaryocyte and platelet function defects.
- The endoplasmic reticulum protein SEC22B interacts with NBEAL2 and is required for megakaryocyte α-granule biogenesis.
Lo, Blood 2020 (PubMed)- GeneRIF: The endoplasmic reticulum protein SEC22B interacts with NBEAL2 and is required for megakaryocyte alpha-granule biogenesis.
- Defective Zn2+ homeostasis in mouse and human platelets with α- and δ-storage pool diseases.
Kiran, Scientific reports 2019 - GeneRIF: Defective Zn(2+) homeostasis in mouse and human platelets with alpha- and delta-storage pool diseases.
- Nbeal2 interacts with Dock7, Sec16a, and Vac14.
Mayer, Blood 2018 - GeneRIF: Nbeal2 interacts with Dock7, Sec16a, and Vac14.
- NBEAL2 mutations and bleeding in patients with gray platelet syndrome.
Pluthero, Platelets 2018 (PubMed)- GeneRIF: Author observed absence of NBEAL2 in platelets from GPS patients with 3 different genotypes, and reduced/truncated platelet NBEAL2 has been reported for others.
- NBEAL2 (Neurobeachin-Like 2) Is Required for Retention of Cargo Proteins by α-Granules During Their Production by Megakaryocytes.
Lo, Arteriosclerosis, thrombosis, and vascular biology 2018 (PubMed)- GeneRIF: NBEAL2 is required for the retention of both endocytosed and megakaryocyte-synthesized proteins by maturing alpha-granules, and possibly by platelet-borne granules. This function may involve interaction of NBEAL2 with P-selectin.
- The transcription factor GATA1 regulates NBEAL2 expression through a long-distance enhancer.
Wijgaerts, Haematologica 2017 - GeneRIF: we herein show a long-distance regulatory region with GATA1 binding sites as being a strong enhancer for NBEAL2 expression.
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- Proteomics changes after negative pressure wound therapy in diabetic foot ulcers
Jia, Molecular medicine reports 2021 - “...expressed proteins. GO ID Description UniProt ID Symbol P-value GO:0071944 Cell periphery O94905, P16452, O43236, Q6ZNJ1, J3KPF3, V9HW21, Q59FP5, P27824, P54709, Q96QK1, Q32MZ4, Q96TA1, P02549, P02649, P20851 ERLIN2, EPB42, SEPTIN4, NBEAL2, SLC3A2, HEL-76, N/A, CANX, ATP1B3, VPS35, LRRFIP1, FAM129B, SPTA1, APOE, C4BPB 0.02 GO:0048585 Negative regulation...”
- Protein profile of well-differentiated versus un-differentiated human bronchial/tracheal epithelial cells
Liu, Heliyon 2020 - “...2.4156E-02 Amine oxidase [flavin-containing] B 113 P00167 CYB5A 1.2616E+09 1.2046 8.8749E-04 2.0361E-02 Cytochrome b5 114 Q6ZNJ1 NBEAL2 3.6960E+08 1.1808 2.0022E-03 3.8320E-02 Neurobeachin-like protein 2 115 P12074 COX6A1 2.1947E+08 1.1694 2.2153E-03 4.1295E-02 Cytochrome c oxidase subunit 6A1, mitochondrial 116 Q15067 ACOX1 6.7813E+08 1.1645 2.3280E-03 4.2947E-02 Peroxisomal acyl-coenzyme...”
- Cellular proteome datasets of human endothelial cells under physiologic state and after treatment with caffeine and epigallocatechin-3-gallate.
Chanthick, Data in brief 2019 - “...form E9PAV3 NACA 64 2.5 3/3 9.6 4236 6604 4831 5224 711 Neurobeachin-like protein 2 Q6ZNJ1 NBEAL2 26 0.9 3/5 6.0 NA NA NA NA NA Neuroblast differentiation-associated protein AHNAK Q09666 AHNAK 106 3.9 14/28 5.8 31540 28337 24712 28197 1972 Nuclear autoantigenic sperm protein P49321...”
DDB_G0271502 BEACH domain-containing protein from Dictyostelium discoideum AX4
2 alignments in 479:1109 / 2806 (21.4%), covering up to 43.2% of PF15787, 92.6 bits
- Improved annotation with de novo transcriptome assembly in four social amoeba species
Singh, BMC genomics 2017 - “...additional exons: DDB_G0268920, DDB_G0269160, DDB_G0274577, DDB_G0275445 and DDB_G0277719, and two proteins have an exon deletion: DDB_G0271502 and DDB_G0278639. Investigating these protein changes in more detail revealed some errors in the underlying genome sequence, which resulted in some unusual gene models. Figure 7 shows clcD (chloride channel...”
BCL8_HUMAN / P0C6P0 Putative protein BCL8; Neurobeachin pseudogene 1 from Homo sapiens (Human) (see 2 papers)
Aligns to 2:93 / 100 (92.0%), covers 16.7% of PF15787, 73.0 bits
NBEA_CHICK / Q9DDD5 Neurobeachin from Gallus gallus (Chicken) (see paper)
Aligns to 1:44 / 793 (5.5%), covers 8.6% of PF15787, 48.0 bits
- function: Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the membrane. May anchor the kinase to cytoskeletal and/or organelle-associated proteins (By similarity).
subunit: Interacts with RII subunit of PKA.
Or search for genetic data about PF15787 in the Fitness Browser
by Morgan Price,
Arkin group
Lawrence Berkeley National Laboratory