Family Search for PF12036 (DUF3522)
PF12036 hits 12 sequences in PaperBLAST's database above the trusted cutoff. Showing all hits. Or show only hits to curated sequences or try another family.
TMM8B_HUMAN / A6NDV4 Transmembrane protein 8B; Nasopharyngeal carcinoma-associated gene 6 protein; Protein NAG-5; Protein NGX6 from Homo sapiens (Human) (see 4 papers)
TC 1.N.2.1.7 / A6NDV4 Tmem8b of 472 aas and 7 TMSs from Homo sapiens
Aligns to 232:415 / 472 (39.0%), covers 98.9% of PF12036, 202.1 bits
- function: May function as a regulator of the EGFR pathway. Probable tumor suppressor which may function in cell growth, proliferation and adhesion.
subunit: Isoform 2 (via its cytoplasmic part) interacts with EZR. - substrates: small molecules
tcdb comment: May function as a regulator of the EGFR pathway. Probable tumor suppressor which may function in cell growth, proliferation and adhesion (Peng et al. 2006)
PGAP6_HUMAN / Q9HCN3 Post-GPI attachment to proteins factor 6; GPI processing phospholipase A2; GPI-PLA2; Protein M83; Transmembrane protein 6; Transmembrane protein 8; Transmembrane protein 8A; EC 3.1.1.4 from Homo sapiens (Human) (see 5 papers)
NP_067082 post-GPI attachment to proteins factor 6 precursor from Homo sapiens
Aligns to 543:727 / 771 (24.0%), covers 98.4% of PF12036, 196.9 bits
- function: Involved in the lipid remodeling steps of GPI-anchor maturation. Lipid remodeling steps consist in the generation of 2 saturated fatty chains at the sn-2 position of GPI-anchor proteins (GPI-AP). Has phospholipase A2 activity that removes an acyl-chain at the sn-2 position of GPI-anchors during the remodeling of GPI. Required for the shedding of the GPI-AP TDGF1, but not CFC1, at the cell surface. Shedding of TDGF1 modulates Nodal signaling by allowing soluble TDGF1 to act as a Nodal coreceptor on other cells (PubMed:27881714). Also indirectly involved in the translocation of RAC1 from the cytosol to the plasma membrane by maintaining the steady state amount of CAV1-enriched plasma membrane subdomains, stabilizing RAC1 at the plasma membrane (PubMed:27835684). In contrast to myomaker (TMEM8C), has no fusogenic activity (PubMed:26858401).
catalytic activity: a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 1-acyl-sn- glycero-3-phosphocholine + a fatty acid + H(+) (RHEA:15801) - PGAP6, a GPI-specific phospholipase A2, has narrow substrate specificity against GPI-anchored proteins.
Lee, The Journal of biological chemistry 2020 - GeneRIF: PGAP6, a GPI-specific phospholipase A2, has narrow substrate specificity against GPI-anchored proteins.
- A GPI processing phospholipase A2, PGAP6, modulates Nodal signaling in embryos by shedding CRIPTO.
Lee, The Journal of cell biology 2016 - GeneRIF: PGAP6 plays a critical role in Nodal signaling modulation through CRIPTO shedding.
- Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways.
Palmieri, Human molecular genetics 2011 (PubMed)- GeneRIF: TMEM8A protein localizes in lysosomes in HeLa cells
- TMEM8 - a non-globin gene entrapped in the globin web.
Philonenko, Nucleic acids research 2009 - “...8 ). The protein product of this gene has been characterized only in humans (UniProtKB: Q9HCN3). It was proposed that its biological role is related to the T-cell resting status, as it was highly expressed in resting T lymphocytes and downregulated by cell activation ( 8...”
AT2G46060 transmembrane protein-related (RefSeq) from Arabidopsis thaliana
Aligns to 560:766 / 807 (25.7%), covers 100.0% of PF12036, 190.2 bits
PGAP6_MOUSE / Q9ESN3 Post-GPI attachment to proteins factor 6; GPI processing phospholipase A2; GPI-PLA2; M83 protein; Transmembrane protein 8; Transmembrane protein 8A; EC 3.1.1.4 from Mus musculus (Mouse) (see paper)
Aligns to 541:725 / 769 (24.1%), covers 98.4% of PF12036, 187.9 bits
- function: Involved in the lipid remodeling steps of GPI-anchor maturation. Lipid remodeling steps consist in the generation of 2 saturated fatty chains at the sn-2 position of GPI-anchor proteins (GPI-AP). Has phospholipase A2 activity that removes an acyl-chain at the sn-2 position of GPI-anchors during the remodeling of GPI. Required for the shedding of the GPI-AP TDGF1, but not CFC1, at the cell surface. Shedding of TDGF1 modulates Nodal signaling by allowing soluble TDGF1 to act as a Nodal coreceptor on other cells. Also indirectly involved in the translocation of RAC1 from the cytosol to the plasma membrane by maintaining the steady state amount of CAV1- enriched plasma membrane subdomains, stabilizing RAC1 at the plasma membrane.
catalytic activity: a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 1-acyl-sn- glycero-3-phosphocholine + a fatty acid + H(+) (RHEA:15801)
disruption phenotype: Embryonic lethal with anterior-posterior axis formation defects in embryos from 6.7 dpc on until cessation of development at latest in 10 dpc.
TC 1.N.2.1.3 / E1BWD8 Myomaker; Tmem8c of 220 aas and 7 TMSs from Gallus gallus
Aligns to 3:185 / 220 (83.2%), covers 98.9% of PF12036, 183.5 bits
- substrates: small molecules
XP_036791554 protein myomaker from Oncorhynchus mykiss
Aligns to 3:185 / 434 (42.2%), covers 98.9% of PF12036, 182.0 bits
MYMK_HUMAN / A6NI61 Protein myomaker; Myoblast fusion maker; Transmembrane protein 226; Transmembrane protein 8C from Homo sapiens (Human) (see 2 papers)
TC 1.N.2.1.1 / A6NI61 Protein myomaker, component of Myomaker (Tmem8c) of 221 aas and 7 TMSs and Myomerger/Mymx/Minion of 84 aas and at least 1 N-terminal TMS, although there may be as many as 3 TMSs from Homo sapiens
NP_001073952 protein myomaker from Homo sapiens
Aligns to 3:185 / 221 (82.8%), covers 98.9% of PF12036, 177.1 bits
- function: Myoblast-specific protein that mediates myoblast fusion, an essential step for the formation of multi-nucleated muscle fibers (PubMed:28681861). Actively participates in the membrane fusion reaction by mediating the mixing of cell membrane lipids (hemifusion) upstream of MYMX. Acts independently of MYMX (By similarity). Involved in skeletal muscle regeneration in response to injury by mediating the fusion of satellite cells, a population of muscle stem cells, with injured myofibers (By similarity). Also involved in skeletal muscle hypertrophy, probably by mediating the fusion of satellite cells with myofibers (By similarity).
subunit: Interacts with MYMX. - substrates: small molecules
tcdb comment: These two proteins were thought to be myoblast-specific proteins that mediate myoblast fusion, essential for the formation of multi-nucleated muscle fibers. They actively participate in the membrane fusion reaction (Schejter 2016). Fusion is dependent on the fusogenic peptide, myomixer (Bi et al. 2017). Myomaker is also required for stem cell fusion in skeletal muscle (Goh and Millay 2017). While Myomaker initiates the fusion process by creating the hemifusion intermediate, Myomerger (Myomixer) is the fusogenic peptide that completes the fusion of the two membranes by formation of a continuous bilayer (Leikina et al. 2018). Reviewed by Hernández and Podbilewicz 2017 - Can we talk about myoblast fusion?
Dugdale, American journal of physiology. Cell physiology 2021 (PubMed)- GeneRIF: Can we talk about myoblast fusion?
- The regulatory role of Myomaker and Myomixer-Myomerger-Minion in muscle development and regeneration.
Chen, Cellular and molecular life sciences : CMLS 2020 (PubMed)- GeneRIF: This articles reviews and discusses the latest studies related to Myomaker and Myomixer-Myomerger-Minion, including the discovery, structure, expression pattern, functions of the two proteins. [review]
- A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.
Di, Nature communications 2017 - GeneRIF: The data establish that MYMK activity is necessary for normal muscle development and maintenance in humans and zebrafish, and expand the spectrum of congenital myopathies to include cell-cell fusion deficits.
MYMK_MOUSE / Q9D1N4 Protein myomaker; Myoblast fusion maker; Transmembrane protein 8C from Mus musculus (Mouse) (see 8 papers)
NP_079652 protein myomaker isoform 1 from Mus musculus
Aligns to 3:185 / 221 (82.8%), covers 98.9% of PF12036, 176.4 bits
- function: Myoblast-specific protein that mediates myoblast fusion, an essential step for the formation of multi-nucleated muscle fibers (PubMed:23868259, PubMed:28386024, PubMed:28681861, PubMed:30197239). Actively participates in the membrane fusion reaction by mediating the mixing of cell membrane lipids (hemifusion) upstream of MYMX (PubMed:30197239). Acts independently of MYMX (PubMed:30197239). Involved in skeletal muscle regeneration in response to injury by mediating the fusion of satellite cells, a population of muscle stem cells, with injured myofibers (PubMed:25085416). Also involved in skeletal muscle hypertrophy, probably by mediating the fusion of satellite cells with myofibers (PubMed:28186492).
subunit: Interacts with MYMX (PubMed:28386024).
disruption phenotype: Perinatal death due to an absence of multi- nucleated muscle fibers (PubMed:23868259). Mice are observed at normal Mendelian ratios at 15 dpc and 17.5 dpc, full-term embryos are alive but are paralyzed and kyphotic with flaccid limbs due to skeletal muscle deficiency (PubMed:23868259). They show a complete absence of differentiated muscle tissue in the trunk, limbs or head (PubMed:23868259). Myoblasts can activate muscle-specific gene expression and differentiate, but lack the ability to fuse (PubMed:23868259). Defects are caused by impaired lipid mixing of cell membranes (PubMed:30197239). Conditional deletion in adult satellite cells, a population of muscle stem cells, completely abolishes muscle regeneration after injury, resulting in severe muscle destruction (PubMed:25085416). Conditional deletion in adult satellite cells impairs skeletal muscle hypertrophy in response to exercise (PubMed:28186492). - Filopodia powered by class x myosin promote fusion of mammalian myoblasts.
Hammers, eLife 2021 - “...for Myo10 promoter activation Transfected construct ( Mus musculus ) Myomaker PMID: 26858401 NCBI No. NP_079652 Transfected construct ( Mus musculus ) Myomixer PMID: 29581287 NCBI No. NP_001170939 Transfected construct ( Mus musculus ) Myomaker-F203 PMID: 26858401 NCBI No. NP_079652 Flag-tagged Myomaker Transfected construct ( Mus...”
- “...Lai et al., 2013 followed by an mApple open-reading frame. Murine Myomaker (NCBI Accession No. NP_079652), Myomixer (NCBI Accession No. NP_001170939), Myomaker-F203 ( Millay et al., 2013 ), and Myomixer-Flag ( Zhang et al., 2017 ) open-reading frames were cloned into pCDNA3.1(+) vector. All constructs were...”
- Myocyte-derived Myomaker expression is required for regenerative fusion but exacerbates membrane instability in dystrophic myofibers.
Petrany, JCI insight 2020 - GeneRIF: Myocyte-derived Myomaker expression is required for regenerative fusion but exacerbates membrane instability in dystrophic myofibers.
- In vivo myomaker-mediated heterologous fusion and nuclear reprogramming.
Mitani, FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2017 - GeneRIF: This study indicated that myomaker could be used in nonmuscle cells to induce fusion with muscle in vivo, thereby providing a platform to deliver therapeutic material.
- Control of muscle formation by the fusogenic micropeptide myomixer.
Bi, Science (New York, N.Y.) 2017 - GeneRIF: the Myomixer-Myomaker pair controls the critical step in myofiber formation during muscle development.
- miR-491 inhibits skeletal muscle differentiation through targeting myomaker.
He, Archives of biochemistry and biophysics 2017 (PubMed)- GeneRIF: Functional studies showed that miR-491 overexpression suppressed muscle cell differentiation and adult muscle regeneration, while the inhibition of miR-491 promoted myotube differentiation. Taken together, the findings identified miR-491 as a novel negative regulator of myogenic differentiation through targeting myomaker.
- Insights into the localization and function of myomaker during myoblast fusion.
Gamage, The Journal of biological chemistry 2017 - GeneRIF: These data reveal that myoblast fusion requires myomaker activity at the plasma membrane and is potentially regulated by proper myomaker trafficking.
- Structure-function analysis of myomaker domains required for myoblast fusion.
Millay, Proceedings of the National Academy of Sciences of the United States of America 2016 - GeneRIF: data indicate that the majority of myomaker is embedded in the plasma membrane with seven membrane-spanning regions and a required intracellular C-terminal tail.
- Myomaker is essential for muscle regeneration.
Millay, Genes & development 2014 - GeneRIF: myogenic basic helix-loop-helix (bHLH) transcription factors induce myomaker expression in satellite cells during acute and chronic muscle regeneration.
- More
MYMK_DANRE / Q6IQ69 Protein myomaker; Myoblast fusion maker; Transmembrane protein 8C from Danio rerio (Zebrafish) (Brachydanio rerio) (see 5 papers)
TC 1.N.2.1.4 / Q6IQ69 Myomaker (Tmem8c) of 220 aas and 7 TMSs from Danio rerio
NP_001002088 protein myomaker from Danio rerio
Aligns to 3:185 / 220 (83.2%), covers 99.5% of PF12036, 175.2 bits
- function: Myoblast-specific protein that mediates myoblast fusion, an essential step for the formation of multi-nucleated muscle fibers (PubMed:25078621, PubMed:28681861, PubMed:28161523, PubMed:30016436). Actively participates in the membrane fusion reaction by mediating the mixing of cell membrane lipids (hemifusion) upstream of mymx (By similarity).
disruption phenotype: Homozygous knockout animals are viable (PubMed:28681861). While, larval and early juvenile fish show no overt phenotype, adult animals are small and develop craniofacial deformities (PubMed:28681861, PubMed:30016436). Mutant embryos lack fast-twitch myoblast fusion at 24 hours post-fertilization (hpf) (PubMed:25078621, PubMed:28681861, PubMed:28161523, PubMed:30016436). No alteration in the organization of slow-twitch myofibers, that do not fuse (PubMed:28681861, PubMed:30016436). In adults, fast-twitch musculature shows variably-sized hypotrophic fibers with variable degrees of fatty infiltration compared to wild-type siblings (PubMed:28681861, PubMed:30016436). - substrates: small molecules
tcdb comment: Essential for myocyte fusion in zebrafish (Landemaine et al. 2014). Myomaker is necessary for fast twitch myocyte fusion in zebrafish embryos (Zhang and Roy 2017) - Trout myomaker contains 14 minisatellites and two sequence extensions but retains fusogenic function
Landemaine, The Journal of biological chemistry 2019 (secret)
XP_017211542 protein myomaker isoform X1 from Danio rerio
Aligns to 3:185 / 258 (70.9%), covers 99.5% of PF12036, 174.5 bits
- Genetic Mutations in jamb, jamc, and myomaker Revealed Different Roles on Myoblast Fusion and Muscle Growth.
Si, Marine biotechnology (New York, N.Y.) 2019 - GeneRIF: The studies demonstrate that although Jamb, Jamc, and Mymk are all involved in myoblast fusion during early myogenesis, they have distinct roles in myoblast fusion during muscle growth. While Mymk is essential for myoblast fusion during both muscle development and growth, Jamb and Jamc are dispensable for myoblast fusion during muscle growth.
- Knockout of myomaker results in defective myoblast fusion, reduced muscle growth and increased adipocyte infiltration in zebrafish skeletal muscle.
Shi, Human molecular genetics 2018 (PubMed)- GeneRIF: mymk is essential for myoblast fusion during muscle development and growth.
- Myomaker is required for the fusion of fast-twitch myocytes in the zebrafish embryo.
Zhang, Developmental biology 2017 (PubMed)- GeneRIF: These findings underscore a conserved role for Myomaker in vertebrate myocyte fusion.
- A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.
Di, Nature communications 2017 - GeneRIF: The data establish that MYMK activity is necessary for normal muscle development and maintenance in humans and zebrafish, and expand the spectrum of congenital myopathies to include cell-cell fusion deficits.
- Myomaker mediates fusion of fast myocytes in zebrafish embryos.
Landemaine, Biochemical and biophysical research communications 2014 (PubMed)- GeneRIF: Confocal microscopy showed marked phenotype characterized by persistence of mononucleated muscle cells in fast myotome at developmental stages where these cells normally fuse to form multinucleated myotubes. myomaker is essential for myocyte fusion.
TGME49_226710 hypothetical protein from Toxoplasma gondii ME49
Aligns to 42:229 / 297 (63.3%), covers 99.5% of PF12036, 126.4 bits
- Dual transcriptional profiling of mice and Toxoplasma gondii during acute and chronic infection
Pittman, BMC genomics 2014 - “...elongation factor 1-alpha (EF-1-ALPHA) 7 TGME49_213050 hypothetical protein 6 TGME49_249180 bifunctional dihydrofolate reductase-thymidylate synthase 6 TGME49_226710 hypothetical protein 6 TGME49_237880 hypothetical protein 6 TGME49_250115 hypothetical protein 6 TGME49_254720 dense granule protein GRA8 (GRA8) 6 TGME49_253930 GCC2 and GCC3 domain-containing protein 6 TGME49_299780 hypothetical protein 6 TGME49_275860...”
Q8UWG9 Transmembrane protein 6-like (Fragment) from Gallus gallus
Aligns to 451:494 / 494 (8.9%), covers 21.5% of PF12036, 38.2 bits
Or search for genetic data about PF12036 in the Fitness Browser
by Morgan Price,
Arkin group
Lawrence Berkeley National Laboratory