Family Search for PF12036 (DUF3522)

PF12036 hits 14 sequences in PaperBLAST's database above the trusted cutoff. Showing hits to curated sequences only. Or see all hits 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)
Aligns to 231:415 / 472 (39.2%), covers 98.9% of PF12036, 179.8 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.

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)
Aligns to 543:727 / 771 (24.0%), covers 98.9% of PF12036, 177.8 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 CRIPTO, but not CFC1, at the cell surface. Shedding of CRIPTO modulates Nodal signaling by allowing soluble CRIPTO 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_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 98.9% of PF12036, 170.2 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 CRIPTO, but not CFC1, at the cell surface. Shedding of CRIPTO modulates Nodal signaling by allowing soluble CRIPTO 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.

MYMK_HUMAN / A6NI61 Protein myomaker; Myoblast fusion maker; Transmembrane protein 226; Transmembrane protein 8C from Homo sapiens (Human) (see 2 papers)
Aligns to 3:185 / 221 (82.8%), covers 98.9% of PF12036, 165.0 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.

MYMK_MOUSE / Q9D1N4 Protein myomaker; Myoblast fusion maker; Transmembrane protein 8C from Mus musculus (Mouse) (see 8 papers)
Aligns to 3:185 / 221 (82.8%), covers 98.9% of PF12036, 164.6 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).

MYMK_DANRE / Q6IQ69 Protein myomaker; Myoblast fusion maker; Transmembrane protein 8C from Danio rerio (Zebrafish) (Brachydanio rerio) (see 5 papers)
Aligns to 3:185 / 220 (83.2%), covers 99.5% of PF12036, 162.3 bits

• function: Myoblast-specific protein that mediates myoblast fusion, an essential step for the formation of multi-nucleated muscle fibers (PubMed:25078621, PubMed:28161523, PubMed:28681861, 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:28161523, PubMed:28681861, 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).

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