Harmonizome 3.0

multiple endocrine neoplasia I

This gene encodes menin, a tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. Menin is a scaffold protein that functions in histone modification and epigenetic gene regulation. It is thought to regulate several pathways and processes by altering chromatin structure through the modification of histones. [provided by RefSeq, May 2019]

regulated endocrine-specific protein 18

Predicted to act upstream of or within in utero embryonic development. Predicted to be located in Golgi apparatus and cytoplasmic vesicle. Predicted to be active in endoplasmic reticulum. [provided by Alliance of Genome Resources, Mar 2025]

solute carrier family 7 (amino acid transporter light chain, y+L system), member 6

Enables L-lysine:L-arginine antiporter activity and arginine binding activity. Involved in L-arginine transmembrane transport; L-leucine transport; and ornithine transport. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

solute carrier family 7 (cationic amino acid transporter, y+ system), member 1

Enables L-arginine transmembrane transporter activity; L-histidine transmembrane transporter activity; and L-lysine transmembrane transporter activity. Involved in carboxylic acid transport. Located in apical plasma membrane and basolateral plasma membrane. Part of protein-containing complex. [provided by Alliance of Genome Resources, Mar 2025]

glycine cleavage system protein H (aminomethyl carrier) pseudogene

limbic system-associated membrane protein

This gene encodes a member of the immunoglobulin LAMP, OBCAM and neurotrimin (IgLON) family of proteins. The encoded preproprotein is proteolytically processed to generate a neuronal surface glycoprotein. This protein may act as a selective homophilic adhesion molecule during axon guidance and neuronal growth in the developing limbic system. The encoded protein may also function as a tumor suppressor and may play a role in neuropsychiatric disorders. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]

glycine cleavage system protein H (aminomethyl carrier) pseudogene 2

solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9

This gene encodes a protein that belongs to a family of light subunits of amino acid transporters. This protein plays a role in the high-affinity and sodium-independent transport of cystine and neutral and dibasic amino acids, and appears to function in the reabsorption of cystine in the kidney tubule. Mutations in this gene cause non-type I cystinuria, a disease that leads to cystine stones in the urinary system due to impaired transport of cystine and dibasic amino acids. Alternate transcript variants, which encode the same protein, have been found for this gene. [provided by RefSeq, Jul 2011]

solute carrier family 7 (amino acid transporter light chain, L system), member 8

Enables several functions, including neutral L-amino acid transmembrane transporter activity; protein heterodimerization activity; and secondary active transmembrane transporter activity. Involved in L-alanine import across plasma membrane; L-leucine import across plasma membrane; and thyroid hormone transport. Located in basolateral plasma membrane and microvillus membrane. [provided by Alliance of Genome Resources, Mar 2025]

solute carrier family 7 (amino acid transporter light chain, y+L system), member 7

The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the heavy subunit transporter protein SLC3A2. This transporter is found in epithelial cell membranes where it transfers cationic and large neutral amino acids from the cell to the extracellular space. Defects in this gene are a cause of lysinuric protein intolerance (LPI). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2011]

solute carrier family 7 (amino acid transporter light chain, L system), member 5

Enables L-amino acid transmembrane transporter activity and secondary active transmembrane transporter activity. Involved in carboxylic acid transport; thyroid hormone transport; and xenobiotic transport. Located in several cellular components, including apical plasma membrane; cytosol; and microvillus membrane. Part of amino acid transport complex. Implicated in cholangiocarcinoma; colon cancer; hepatocellular carcinoma; and lung squamous cell carcinoma. Biomarker of esophagitis; gastrointestinal system cancer (multiple); malignant astrocytoma (multiple); and respiratory system cancer (multiple). [provided by Alliance of Genome Resources, Mar 2025]

solute carrier family 7 (cationic amino acid transporter, y+ system), member 2

The protein encoded by this gene is a cationic amino acid transporter and a member of the APC (amino acid-polyamine-organocation) family of transporters. The encoded membrane protein is responsible for the cellular uptake of arginine, lysine and ornithine. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

solute carrier family 7 (cationic amino acid transporter, y+ system), member 3

This gene encodes a member of the solute carrier family 7. The encoded protein is a sodium-independent cationic amino acid transporter. Alternate splicing results in multiple transcripts that encoded the same protein.[provided by RefSeq, May 2010]

mitochondrial inner membrane organizing system 1 pseudogene 4

solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 pseudogene

nervous system abundant protein 11

glycine cleavage system protein H (aminomethyl carrier) pseudogene

visual system homeobox 1

The protein encoded by this gene contains a paired-like homeodomain and binds to the core of the locus control region of the red/green visual pigment gene cluster. The encoded protein may regulate expression of the cone opsin genes early in development. Mutations in this gene can cause posterior polymorphous corneal dystrophy and keratoconus. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

solute carrier family 43 (amino acid system L transporter), member 2

This gene encodes a member of the L-amino acid transporter-3 or SLC43 family of transporters. The encoded protein mediates sodium-, chloride-, and pH-independent transport of L-isomers of neutral amino acids, including leucine, phenylalanine, valine and methionine. This protein may contribute to the transfer of amino acids across the placental membrane to the fetus. [provided by RefSeq, Mar 2016]

solute carrier family 43 (amino acid system L transporter), member 1

SLC43A1 belongs to the system L family of plasma membrane carrier proteins that transports large neutral amino acids (Babu et al., 2003 [PubMed 12930836]).[supplied by OMIM, Mar 2008]

glycine cleavage system protein H pseudogene 5

glycine cleavage system protein H (aminomethyl carrier) pseudogene 4

glycine cleavage system protein H (aminomethyl carrier) pseudogene 3

mitochondrial inner membrane organizing system 1 pseudogene 3

mitochondrial inner membrane organizing system 1 pseudogene 2

mitochondrial inner membrane organizing system 1 pseudogene 1

glycine cleavage system protein H (aminomethyl carrier)

Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the H protein, which transfers the methylamine group of glycine from the P protein to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH). Two transcript variants, one protein-coding and the other probably not protein-coding,have been found for this gene. Also, several transcribed and non-transcribed pseudogenes of this gene exist throughout the genome.[provided by RefSeq, Jan 2010]

mitochondrial inner membrane organizing system 1

Involved in cristae formation. Located in mitochondrion. Part of MIB complex; MICOS complex; and SAM complex. [provided by Alliance of Genome Resources, Mar 2025]

solute carrier family 7 (amino acid transporter light chain, L system), member 5 pseudogene 1

This locus represents a pseudogene of the L-type amino acid transporter 1. Transcripts initiating at this locus read through to downstream SMG1 pseudogene 2 (SMG1P2). [provided by RefSeq, Feb 2016]

solute carrier family 7 (amino acid transporter light chain, L system), member 5 pseudogene 2

Predicted to enable transmembrane transporter activity. Predicted to be involved in L-alpha-amino acid transmembrane transport. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

glycine cleavage system protein H (aminomethyl carrier) pseudogene

solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 pseudogene

visual system homeobox 2

This gene encodes a homeobox protein originally described as a retina-specific transcription factor. Mutations in this gene are associated with microphthalmia, cataracts and iris abnormalities. [provided by RefSeq, Oct 2009]

solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1

This gene encodes a member of the high-affinity glutamate transporters that play an essential role in transporting glutamate across plasma membranes. In brain, these transporters are crucial in terminating the postsynaptic action of the neurotransmitter glutamate, and in maintaining extracellular glutamate concentrations below neurotoxic levels. This transporter also transports aspartate, and mutations in this gene are thought to cause dicarboxylicamino aciduria, also known as glutamate-aspartate transport defect. [provided by RefSeq, Mar 2010]

solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10

SLC7A10, in association with 4F2HC (SLC3A2; MIM 158070), mediates high-affinity transport of D-serine and several other neutral amino acids (Nakauchi et al., 2000 [PubMed 10863037]).[supplied by OMIM, Mar 2008]

solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11

This gene encodes a member of a heteromeric, sodium-independent, anionic amino acid transport system that is highly specific for cysteine and glutamate. In this system, designated Xc(-), the anionic form of cysteine is transported in exchange for glutamate. This protein has been identified as the predominant mediator of Kaposi sarcoma-associated herpesvirus fusion and entry permissiveness into cells. Also, increased expression of this gene in primary gliomas (compared to normal brain tissue) was associated with increased glutamate secretion via the XCT channels, resulting in neuronal cell death. [provided by RefSeq, Sep 2011]

mitochondrial contact site and cristae organizing system subunit 10

Involved in cristae formation. Located in mitochondrion. Part of MIB complex; MICOS complex; and SAM complex. [provided by Alliance of Genome Resources, Mar 2025]

mitochondrial contact site and cristae organizing system subunit 13

Involved in cristae formation. Located in mitochondrial crista junction and nucleoplasm. Part of MICOS complex. Implicated in combined oxidative phosphorylation deficiency 37. [provided by Alliance of Genome Resources, Mar 2025]

PMS1 homolog 2, mismatch repair system component pseudogene 11

Predicted to enable kinase activity. [provided by Alliance of Genome Resources, Mar 2025]