| Name |
|---|
LOC101928959 Geneprobable ribosome biogenesis protein RLP24 pseudogene |
LOC728034 GeneBMS1 ribosome biogenesis factor pseudogene |
LOC101927920 Geneprobable ribosome biogenesis protein RLP24 pseudogene |
LOC102724031 Generibosome biogenesis protein BMS1 homolog |
NSA2 GeneNSA2 ribosome biogenesis homolog (S. cerevisiae) This gene encodes a nucleolar protein involved in cell cycle regulation and proliferation. This gene was identified based on sequence similarity to a highly conserved Saccharomyces cerevisiae gene encoding a pre-ribosomal protein, which is involved in large ribosomal subunit biogenesis. The encoded protein is found at elevated levels in diabetic nephropathy. Alternative splicing results in multiple transcript variants. Several related pseudogenes have been identified. [provided by RefSeq, Nov 2012] |
BMS1 GeneBMS1 ribosome biogenesis factor This gene likely encodes a ribosome assembly protein. A similar protein in yeast functions in 35S-rRNA processing, which includes a series of cleavage steps critical for formation of 40S ribosomes. Related pseudogenes exist on chromosomes 2, 9, 10, 15, 16, and 22.[provided by RefSeq, Mar 2009] |
LOC101927140 Geneprobable ribosome biogenesis protein RLP24 pseudogene |
BMS1P7 GeneBMS1 ribosome biogenesis factor pseudogene 7 |
LOC105379542 Generibosome biogenesis protein BMS1 homolog |
BMS1P17 GeneBMS1 ribosome biogenesis factor pseudogene 17 |
BMS1P19 GeneBMS1 ribosome biogenesis factor pseudogene 19 |
BMS1P18 GeneBMS1 ribosome biogenesis factor pseudogene 18 |
BMS1P15 GeneBMS1 ribosome biogenesis factor pseudogene 15 |
BMS1P16 GeneBMS1 ribosome biogenesis factor pseudogene 16 |
BMS1P11 GeneBMS1 ribosome biogenesis factor pseudogene 11 |
BMS1P10 GeneBMS1 ribosome biogenesis factor pseudogene 10 |
BMS1P13 GeneBMS1 ribosome biogenesis factor pseudogene 13 |
BMS1P12 GeneBMS1 ribosome biogenesis factor pseudogene 12 |
LOC100421765 GeneNSA2 ribosome biogenesis homolog (S. cerevisiae) pseudogene |
LOC100421693 GeneNSA2 ribosome biogenesis homolog (S. cerevisiae) pseudogene |
LOC100421691 GeneNSA2 ribosome biogenesis homolog (S. cerevisiae) pseudogene |
LOC100421690 GeneNSA2 ribosome biogenesis homolog (S. cerevisiae) pseudogene |
URB2 GeneURB2 ribosome biogenesis 2 homolog (S. cerevisiae) Predicted to be involved in regulation of signal transduction by p53 class mediator and ribosome biogenesis. Located in aggresome; midbody; and nucleolus. [provided by Alliance of Genome Resources, Mar 2025] |
URB1 GeneURB1 ribosome biogenesis 1 homolog (S. cerevisiae) Enables RNA binding activity. Predicted to be involved in maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) and maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Located in fibrillar center. [provided by Alliance of Genome Resources, Mar 2025] |
LOC100132658 GeneNSA2 ribosome biogenesis homolog (S. cerevisiae) pseudogene |
BMS1P21 GeneBMS1 ribosome biogenesis factor pseudogene 21 |
LOC100421749 GeneNSA2 ribosome biogenesis homolog (S. cerevisiae) pseudogene |
BMS1P20 GeneBMS1 ribosome biogenesis factor pseudogene 20 This locus appears to be a transcribed pseudogene of the BMS1 homolog of yeast ribosome assembly protein on chromosome 10 that has arisen from duplication of the 3' half of the parent gene. Frameshifts and premature stop codons are present in this pseudogene compared to the parent gene. This gene lies in the immunoglobulin lambda gene cluster on chromosome 22q11.21.[provided by RefSeq, Mar 2009] |
LOC400061 GeneNSA2 ribosome biogenesis homolog (S. cerevisiae) pseudogene |
LOC105371239 Geneprobable ribosome biogenesis protein RLP24 pseudogene |
LOC100421689 GeneNSA2 ribosome biogenesis homolog (S. cerevisiae) pseudogene |
BMS1P9 GeneBMS1 ribosome biogenesis factor pseudogene 9 |
BMS1P8 GeneBMS1 ribosome biogenesis factor pseudogene 8 |
BMS1P3 GeneBMS1 ribosome biogenesis factor pseudogene 3 |
BMS1P5 GeneBMS1 ribosome biogenesis factor pseudogene 5 |
BMS1P4 GeneBMS1 ribosome biogenesis factor pseudogene 4 |
BMS1P6 GeneBMS1 ribosome biogenesis factor pseudogene 6 |
LOC100421721 GeneNSA2 ribosome biogenesis homolog (S. cerevisiae) pseudogene |
LTV1 GeneLTV1 ribosome biogenesis factor Predicted to be involved in ribosomal small subunit biogenesis and ribosomal small subunit export from nucleus. Located in cytosol and nucleoplasm. Implicated in inflammatory poikiloderma with hair abnormalities and acral keratoses. [provided by Alliance of Genome Resources, Mar 2025] |
RRS1 GeneRRS1 ribosome biogenesis regulator homolog (S. cerevisiae) Enables 5S rRNA binding activity. Involved in several processes, including mitotic metaphase chromosome alignment; protein localization to nucleolus; and ribosomal large subunit assembly. Located in condensed nuclear chromosome; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
NOP53 GeneNOP53 ribosome biogenesis factor Enables 5S rRNA binding activity; identical protein binding activity; and p53 binding activity. Involved in several processes, including mitotic G2 DNA damage checkpoint signaling; regulation of intracellular signal transduction; and regulation of primary metabolic process. Located in cytosol; nuclear lumen; and rDNA heterochromatin. [provided by Alliance of Genome Resources, Mar 2025] |
SLX9 GeneSLX9 ribosome biogenesis factor Predicted to be involved in maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA). Predicted to be located in nucleolus. Predicted to be part of 90S preribosome and preribosome, small subunit precursor. [provided by Alliance of Genome Resources, Mar 2025] |
NMD3P1 GeneNMD3 ribosome export adaptor pseudogene 1 |
RBFA Generibosome binding factor A (putative) Predicted to be involved in rRNA processing. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025] |
NMD3 GeneNMD3 ribosome export adaptor Ribosomal 40S and 60S subunits associate in the nucleolus and are exported to the cytoplasm. The protein encoded by this gene is involved in the passage of the 60S subunit through the nuclear pore complex and into the cytoplasm. Several transcript variants exist for this gene, but the full-length natures of only two have been described to date. [provided by RefSeq, Feb 2016] |
MTG2 Genemitochondrial ribosome-associated GTPase 2 Small G proteins, such as GTPBP5, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM, Mar 2008] |
MTG1 Genemitochondrial ribosome-associated GTPase 1 Enables GTPase activity. Involved in regulation of mitochondrial translation and regulation of respiratory system process. Located in mitochondrial inner membrane; mitochondrial ribosome; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
LOC392027 Generibosome binding protein 1 homolog 180kDa (dog) pseudogene |
MRRF Genemitochondrial ribosome recycling factor This gene encodes a ribosome recycling factor, which is a component of the mitochondrial translational machinery. The encoded protein, along with mitochondrial elongation factor 2, functions in ribosomal recycling at the termination of mitochondrial translation by mediating the disassembly of ribosomes from messenger RNA. A pseudogene of this gene has been identified on chromosome X. [provided by RefSeq, Oct 2016] |
NMD3P2 GeneNMD3 ribosome export adaptor pseudogene 2 |
LOC100421669 Generibosome binding protein 1 homolog 180kDa (dog) pseudogene |
RPF2P2 Generibosome production factor 2 homolog (S. cerevisiae) pseudogene 2 |
LOC105370293 Generibosome-binding protein 1-like |
LOC100420872 Generibosome binding factor A (putative) pseudogene |
RRBP1 Generibosome binding protein 1 This gene encodes a ribosome-binding protein of the endoplasmic reticulum (ER) membrane. Studies suggest that this gene plays a role in ER proliferation, secretory pathways and secretory cell differentiation, and mediation of ER-microtubule interactions. Alternative splicing has been observed and protein isoforms are characterized by regions of N-terminal decapeptide and C-terminal heptad repeats. Splicing of the tandem repeats results in variations in ribosome-binding affinity and secretory function. The full-length nature of variants which differ in repeat length has not been determined. Pseudogenes of this gene have been identified on chromosomes 3 and 7, and RRBP1 has been excluded as a candidate gene in the cause of Alagille syndrome, the result of a mutation in a nearby gene on chromosome 20p12. [provided by RefSeq, Apr 2012] |
LOC100420929 Generibosome binding factor A (putative) pseudogene |
RPF1 Generibosome production factor 1 homolog (S. cerevisiae) Enables RNA binding activity. Predicted to be involved in maturation of 5.8S rRNA and maturation of LSU-rRNA. Located in nucleolus. [provided by Alliance of Genome Resources, Mar 2025] |
RPF2 Generibosome production factor 2 homolog (S. cerevisiae) Enables 5S rRNA binding activity. Involved in protein localization to nucleolus; regulation of signal transduction by p53 class mediator; and ribosomal large subunit biogenesis. Located in chromosome; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
MRRFP1 Genemitochondrial ribosome recycling factor pseudogene 1 |
RPF2P1 Generibosome production factor 2 homolog (S. cerevisiae) pseudogene 1 |
BUD23 GeneBUD23 rRNA methyltransferase and ribosome maturation factor This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2011] |
AIRIM GeneAFG2 interacting ribosome maturation factor Involved in ribosomal large subunit biogenesis. Located in cytosol; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
BLOC1S6 Genebiogenesis of lysosomal organelles complex-1, subunit 6, pallidin The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome. [provided by RefSeq, Aug 2015] |
BLOC1S1 Genebiogenesis of lysosomal organelles complex-1, subunit 1 BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004 [PubMed 15102850]).[supplied by OMIM, Mar 2008] |
PES1P2 Genepescadillo ribosomal biogenesis factor 1 pseudogene 2 |
PEX11G Geneperoxisomal biogenesis factor 11 gamma The protein encoded by this gene is a member of the PEX11 family. This family is reported to regulate the number and size of peroxisomes in evolutionarily distant organisms. The protein encoded by this gene may induce clustering of peroxisomes. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] |
PEX5L Geneperoxisomal biogenesis factor 5-like Enables peroxisome matrix targeting signal-1 binding activity and small GTPase binding activity. Predicted to be involved in protein import into peroxisome matrix, docking. Predicted to act upstream of or within maintenance of protein location and regulation of membrane potential. Located in cytosol. Part of receptor complex. [provided by Alliance of Genome Resources, Mar 2025] |
CWH43 Genecell wall biogenesis 43 C-terminal homolog (S. cerevisiae) Predicted to be involved in GPI anchor biosynthetic process. Predicted to act upstream of or within several processes, including cerebrospinal fluid circulation; establishment of protein localization; and protein N-linked glycosylation. Predicted to be located in extracellular region and membrane. Predicted to be active in endoplasmic reticulum. [provided by Alliance of Genome Resources, Mar 2025] |
USB1 GeneU6 snRNA biogenesis 1 This gene encodes a protein with several conserved domains, however, its exact function is not known. Mutations in this gene are associated with poikiloderma with neutropenia (PN), which shows phenotypic overlap with Rothmund-Thomson syndrome (RTS) caused by mutations in the RECQL4 gene. It is believed that this gene product interacts with RECQL4 protein via SMAD4 proteins, explaining the partial clinical overlap between PN and RTS. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011] |
LOC100130035 Genebiogenesis of lysosome-related organelles complex 1 subunit 6-like |
PEX11A Geneperoxisomal biogenesis factor 11 alpha This gene is a member of the PEX11 family, which is composed of membrane elongation factors involved in regulation of peroxisome maintenance and proliferation. This gene product interacts with peroxisomal membrane protein 19 and may respond to outside stimuli to increase peroxisome abundance. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012] |
PEX11B Geneperoxisomal biogenesis factor 11 beta The protein encoded by this gene facilitates peroxisomal proliferation and interacts with PEX19. The encoded protein is found in the peroxisomal membrane. Several transcript variants, some protein-coding and some not protein-coding, have been found for this gene. [provided by RefSeq, Dec 2012] |
BLOC1S5 Genebiogenesis of lysosomal organelles complex-1, subunit 5, muted This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky-Pudlak Syndrome is mutated in the murine version of this gene. Alternative splicing results in multiple transcript variants. Read-through transcription exists between this gene and the upstream EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) gene, as well as with the downstream TXNDC5 (thioredoxin domain containing 5) gene. [provided by RefSeq, Dec 2010] |
BLOC1S3 Genebiogenesis of lysosomal organelles complex-1, subunit 3 This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008] |
BLOC1S2 Genebiogenesis of lysosomal organelles complex-1, subunit 2 This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1 complex which functions in the formation of lysosome-related organelles. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] |
PES1P1 Genepescadillo ribosomal biogenesis factor 1 pseudogene 1 |
BRIX1P1 GeneBRX1, biogenesis of ribosomes pseudogene 1 |
PEX26 Geneperoxisomal biogenesis factor 26 This gene belongs to the peroxin-26 gene family. It is probably required for protein import into peroxisomes. It anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Defects in this gene are the cause of peroxisome biogenesis disorder complementation group 8 (PBD-CG8). PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2010] |
LOC100131465 Geneperoxisomal biogenesis factor 5 pseudogene |
CCZ1B GeneCCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae) Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in vesicle-mediated transport. Located in intracellular membrane-bounded organelle. Part of Mon1-Ccz1 complex. [provided by Alliance of Genome Resources, Mar 2025] |
PEX19 Geneperoxisomal biogenesis factor 19 This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. These disorders have at least 14 complementation groups, with more than one phenotype being observed for some complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS), as well as peroxisome biogenesis disorder complementation group 14 (PBD-CG14), which is also known as PBD-CGJ. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010] |
PEX10 Geneperoxisomal biogenesis factor 10 This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] |
PEX13 Geneperoxisomal biogenesis factor 13 This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly lead to peroxisomal biogenesis disorders, an example of which is Zellweger syndrome. [provided by RefSeq, Oct 2008] |
PEX14 Geneperoxisomal biogenesis factor 14 This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxisomal targeting signal. The protein also functions as a transcriptional corepressor and interacts with a histone deacetylase. A mutation in this gene results in one form of Zellweger syndrome. [provided by RefSeq, Jul 2008] |
PEX16 Geneperoxisomal biogenesis factor 16 The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008] |
BLOC1S4 Genebiogenesis of lysosomal organelles complex-1, subunit 4, cappuccino This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and is a model for Hermansky-Pudlak syndrome. The encoded protein may play a role in intracellular vesicular trafficking. [provided by RefSeq, Jul 2008] |
PEX12P1 Geneperoxisomal biogenesis factor 12 pseudogene 1 |
PEX1 Geneperoxisomal biogenesis factor 1 This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013] |
PEX3 Geneperoxisomal biogenesis factor 3 The product of this gene is involved in peroxisome biosynthesis and integrity. It assembles membrane vesicles before the matrix proteins are translocated. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008] |
PEX2 Geneperoxisomal biogenesis factor 2 This gene encodes an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] |
PEX5 Geneperoxisomal biogenesis factor 5 The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008] |
PEX7 Geneperoxisomal biogenesis factor 7 This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD). [provided by RefSeq, Oct 2008] |
PEX6 Geneperoxisomal biogenesis factor 6 This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015] |
PEX12 Geneperoxisomal biogenesis factor 12 This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008] |
CCZ1 GeneCCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae) Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in vesicle-mediated transport. Located in intracellular membrane-bounded organelle. Part of Mon1-Ccz1 complex. [provided by Alliance of Genome Resources, Mar 2025] |
PES1 Genepescadillo ribosomal biogenesis factor 1 This gene encodes a nuclear protein that contains a breast cancer associated gene 1 (BRCA1) C-terminal interaction domain. The encoded protein interacts with BOP1 and WDR12 to form the PeBoW complex, which plays a critical role in cell proliferation via pre-rRNA processing and 60S ribosomal subunit maturation. Expression of this gene may play an important role in breast cancer proliferation and tumorigenicity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Pseudogenes of this gene are located on the long arm of chromosome 4 and the short arm of chromosome 9. [provided by RefSeq, Aug 2011] |
BLOC1S2P1 Genebiogenesis of lysosomal organelles complex-1, subunit 2 pseudogene 1 |
BRIX1 GeneBRX1, biogenesis of ribosomes Enables RNA binding activity. Predicted to be involved in ribosomal large subunit assembly. Located in chromosome and nucleolus. [provided by Alliance of Genome Resources, Mar 2025] |
RBIS Generibosomal biogenesis factor Involved in ribosome biogenesis. Located in cytosol; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025] |
PEX39 Geneperoxisomal biogenesis factor 39 |