Harmonizome 3.0

magnesium transporter 1

This gene encodes a ubiquitously expressed magnesium cation transporter protein that localizes to the cell membrane. This protein also associates with N-oligosaccharyl transferase and therefore may have a role in N-glycosylation. Mutations in this gene cause a form of X-linked intellectual disability (XLID). This gene may have multiple in-frame translation initiation sites, one of which would encode a shorter protein with an N-terminus containing a signal peptide at amino acids 1-29. [provided by RefSeq, Jul 2017]

magnesium transporter 1 pseudogene

magnesium-dependent phosphatase 1

Predicted to enable acid phosphatase activity. Predicted to be involved in chromatin remodeling. [provided by Alliance of Genome Resources, Mar 2025]

membrane magnesium transporter 1

Contributes to membrane insertase activity. Involved in protein insertion into ER membrane by stop-transfer membrane-anchor sequence and tail-anchored membrane protein insertion into ER membrane. Located in endoplasmic reticulum membrane. Part of EMC complex. [provided by Alliance of Genome Resources, Mar 2025]

MRS2 magnesium transporter

Enables magnesium ion transmembrane transporter activity. Involved in mitochondrial magnesium ion transmembrane transport. Located in mitochondrion. [provided by Alliance of Genome Resources, Mar 2025]

solute carrier family 41 (magnesium transporter), member 1

Enables magnesium:sodium antiporter activity. Involved in cellular response to magnesium ion; intracellular magnesium ion homeostasis; and magnesium ion transmembrane transport. Located in basolateral plasma membrane. Part of protein-containing complex. Implicated in nephronophthisis. [provided by Alliance of Genome Resources, Mar 2025]

solute carrier family 41 (magnesium transporter), member 2

Predicted to enable magnesium ion transmembrane transporter activity. Involved in magnesium ion transport. Located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

solute carrier family 41 (magnesium transporter), member 2 pseudogene

Renal hypodysplasia, nonsyndromic, 1

Papillary thyroid carcinoma with papillary renal neoplasia

Beta-amino acids, renal transport of

Renal failure, progressive, with hypertension

glycosuria 1, renal

papillary renal cell carcinoma (translocation-associated)

This gene encodes a protein that may play a role in pre-mRNA splicing. Chromosomal translocations (X;1)(p11;q21) that result in fusion of this gene to TFE3 (GeneID 7030) have been associated with papillary renal cell carcinoma. A PRCC-TFE3 fusion protein is expressed in affected carcinomas and is likely associated with altered gene transactivation. This fusion protein has also been associated with disruption of the cell cycle.[provided by RefSeq, Aug 2010]

disrupted in renal carcinoma 1

Disruption of DIRC1 by translocation is associated with familial clear cell renal cancer. Overexpression of DIRC1 is associated with tumor progression and poor prognosis in gastric cancer. [provided by RefSeq, Mar 2019]

disrupted in renal carcinoma 3

disrupted in renal carcinoma 2

This gene encodes a membrane-bound protein from the major facilitator superfamily of transporters. Disruption of this gene by translocation has been associated with haplo-insufficiency and renal cell carcinomas. Alternatively spliced transcript variants have been described, but their biological validity has not yet been determined. [provided by RefSeq, Jul 2008]

dipeptidase 1 (renal)

The protein encoded by this gene is a kidney membrane enzyme involved in the metabolism of glutathione and other similar proteins by dipeptide hydrolysis. The encoded protein is known to regulate leukotriene activity by catalyzing the conversion of leukotriene D4 to leukotriene E4. This protein uses zinc as a cofactor and acts as a disulfide-linked homodimer. [provided by RefSeq, Dec 2020]

proline rich 5 (renal)

This gene encodes a protein with a proline-rich domain. This gene is located in a region of chromosome 22 reported to contain a tumor suppressor gene that may be involved in breast and colorectal tumorigenesis. The protein is a component of the mammalian target of rapamycin complex 2 (mTORC2), and it regulates platelet-derived growth factor (PDGF) receptor beta expression and PDGF signaling to Akt and S6K1. Alternative splicing and the use of alternative promoters results in transcripts encoding different isoforms. Read-through transcripts from this gene into the downstream Rho GTPase activating protein 8 (ARHGAP8) gene also exist, which led to the original description of PRR5 and ARHGAP8 being a single gene. [provided by RefSeq, Nov 2010]

torticollis, keloids, cryptorchidism and renal dysplasia