Harmonizome 3.0

BST2 interferon stimulated positive regulator (non-protein coding)

thymocyte expressed, positive selection associated 1

Predicted to enable phospholipase binding activity and signaling receptor binding activity. Predicted to be involved in COP9 signalosome assembly; positive regulation of T cell differentiation in thymus; and positive regulation of T cell receptor signaling pathway. Predicted to act upstream of or within TCR signalosome assembly. Located in cytosol. Part of COP9 signalosome. [provided by Alliance of Genome Resources, Mar 2025]

gastric adenocarcinoma associated, positive CD44 regulator, long intergenic non-coding RNA

muscular dystrophy, congenital, merosin-positive

growth regulation by estrogen in breast cancer-like

Acts upstream of or within kidney development. Predicted to be located in membrane. Implicated in autosomal dominant nonsyndromic deafness 80 and renal agenesis. [provided by Alliance of Genome Resources, Mar 2025]

regulation of nuclear pre-mRNA domain containing 1A

This gene encodes a cell-cycle and transcription regulatory protein. The encoded protein interacts with the cell cycle inhibitor cyclin-dependent kinase 4 inhibitor B and may function as a negative regulator of G(1)/S phase progression. This protein also forms homo- and hetrodimers with the protein, regulation of nuclear pre-mRNA domain-containing protein 1B, to form a scaffold that interacts with the C-terminal domain of RNA polymerase II subunit B1 and regulates several aspects of transcription. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 16. [provided by RefSeq, Dec 2014]

regulation of nuclear pre-mRNA domain containing 1B

Enables RNA polymerase II complex binding activity and identical protein binding activity. Involved in several processes, including RNA polymerase II promoter clearance; positive regulation of cell population proliferation; and positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. Part of transcription preinitiation complex. [provided by Alliance of Genome Resources, Mar 2025]

regulation of nuclear pre-mRNA domain containing 2

Predicted to enable RNA polymerase II complex binding activity. Predicted to be involved in mRNA 3'-end processing. Part of transcription preinitiation complex. [provided by Alliance of Genome Resources, Mar 2025]

growth regulation by estrogen in breast cancer 1

This gene is an estrogen-responsive gene that is an early response gene in the estrogen receptor-regulated pathway. It is thought to play an important role in hormone-responsive tissues and cancer. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

regulation of nuclear pre-mRNA domain containing 1A pseudogene

plaque enriched lncRNA in atherosclerotic and inflammatory bowel macrophage regulation

p53 regulation associated lncRNA

probable ribosome biogenesis protein RLP24 pseudogene

NMD3 ribosome export adaptor pseudogene 1

BMS1 ribosome biogenesis factor pseudogene

probable ribosome biogenesis protein RLP24 pseudogene

ribosome biogenesis protein BMS1 homolog

NSA2 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 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]

probable ribosome biogenesis protein RLP24 pseudogene

BMS1 ribosome biogenesis factor pseudogene 7

ribosome biogenesis protein BMS1 homolog

ribosome binding factor A (putative)

Predicted to be involved in rRNA processing. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

BMS1 ribosome biogenesis factor pseudogene 17

NMD3 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]

BMS1 ribosome biogenesis factor pseudogene 19

BMS1 ribosome biogenesis factor pseudogene 18

BMS1 ribosome biogenesis factor pseudogene 15

BMS1 ribosome biogenesis factor pseudogene 16

BMS1 ribosome biogenesis factor pseudogene 11

BMS1 ribosome biogenesis factor pseudogene 10

BMS1 ribosome biogenesis factor pseudogene 13

BMS1 ribosome biogenesis factor pseudogene 12

mitochondrial 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]

mitochondrial 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]

ribosome binding protein 1 homolog 180kDa (dog) pseudogene

NSA2 ribosome biogenesis homolog (S. cerevisiae) pseudogene

NSA2 ribosome biogenesis homolog (S. cerevisiae) pseudogene

NSA2 ribosome biogenesis homolog (S. cerevisiae) pseudogene

NSA2 ribosome biogenesis homolog (S. cerevisiae) pseudogene

mitochondrial 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]

NMD3 ribosome export adaptor pseudogene 2

URB2 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 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]

NSA2 ribosome biogenesis homolog (S. cerevisiae) pseudogene

BMS1 ribosome biogenesis factor pseudogene 21

ribosome binding protein 1 homolog 180kDa (dog) pseudogene

NSA2 ribosome biogenesis homolog (S. cerevisiae) pseudogene

ribosome production factor 2 homolog (S. cerevisiae) pseudogene 2

BMS1 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]

NSA2 ribosome biogenesis homolog (S. cerevisiae) pseudogene

probable ribosome biogenesis protein RLP24 pseudogene

ribosome-binding protein 1-like

NSA2 ribosome biogenesis homolog (S. cerevisiae) pseudogene

ribosome binding factor A (putative) pseudogene

BMS1 ribosome biogenesis factor pseudogene 9

BMS1 ribosome biogenesis factor pseudogene 8

BMS1 ribosome biogenesis factor pseudogene 3

BMS1 ribosome biogenesis factor pseudogene 5

BMS1 ribosome biogenesis factor pseudogene 4

BMS1 ribosome biogenesis factor pseudogene 6

ribosome 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]

ribosome binding factor A (putative) pseudogene

NSA2 ribosome biogenesis homolog (S. cerevisiae) pseudogene

ribosome 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]

ribosome 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]

LTV1 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]

mitochondrial ribosome recycling factor pseudogene 1

ribosome production factor 2 homolog (S. cerevisiae) pseudogene 1

RRS1 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 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]

BUD23 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]

SLX9 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]

AFG2 interacting ribosome maturation factor

Involved in ribosomal large subunit biogenesis. Located in cytosol; nucleolus; and nucleoplasm. [provided by Alliance of Genome Resources, Mar 2025]