Persius/hicric huggingface dataset:
SLC22A5
SLC22A5 is a membrane transport protein associated with primary carnitine deficiency. This protein is involved in the active cellular uptake of carnitine. It acts a symporter, moving sodium ions and other organic cations across the membrane along with carnitine. Such polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for the elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. Mutations in the SLC22A5 gene cause systemic primary carnitine deficiency, which can lead to heart failure.

# Structure
The SLC22A5 gene, containing 10 exons, is located on the q arm of chromosome 5 in position 31.1 and spans 25,910 base pair. The gene produces a 63 kDa protein composed of 557 amino acids. The protein has 12 putative transmembrane domains, with a long extracellular loop of 107 amino acids between the first two transmembrane domains and an intracellular loop between the fourth and fifth transmembrane domains. This long extracellular loop has three potential sites for N-glycosylation, and the intracellular loop has an ATP/GTP binding motif.  In putative intracellular domains, there are five potential sites for protein-kinase C-dependent phosphorylation and one for protein-kinase A-dependent phosphorylation.

# Function
The SLC22A5 gene codes for a plasma integral membrane protein which functions as both an organic cation transporter and a sodium-dependent high affinity carnitine transporter.  The encoded protein is involved in the active cellular uptake of carnitine, transporting one sodium ion with one molecule of carnitine. Organic cations transported by this protein include tetraethylammonium (TEA) without involvement of sodium. The relative uptake activity ratio of carnitine to TEA is 11.3.

# Clinical Significance
The main phenotypical effect of autosomal recessive mutations, either compound heterozygous or homozygous, in the SLC22A5 gene is systemic primary carnitine deficiency, characterized by impaired carnitine transport, urinary carnitine wasting, low serum carnitine levels, reduced intracellular carnitine accumulation, impaired beta oxidation, and cytosolic fatty acid accumulation. Patients often display metabolic decompensation, hypoketotic hypoglycemia, hepatic encephalopathy, Reye syndrome, and sudden infant death in their first year, followed by the later onset of cardiomyopathy or skeletal myopathy, arrhythmias, muscle weakness, and heart failure in early childhood. Patients may be asymptomatic, with about 70% of asymptomatic patients having a missense mutation or in-frame deletion; nonsense mutation frequency is increased in symptomatic patients. The symptoms and outcome of the disease can be drastically improved by replacement therapy with L-carnitine. The estimated incidence of primary carnitine deficiency in newborns is about 1 in 40,000.

# Interactions
SLC22A5 interacts with PDZK1.
SLC22A7
Solute carrier family 22 member 7 is a protein that in humans is encoded by the gene SLC22A7.
The protein encoded by this gene is involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and appears to be localized to the basolateral membrane of the kidney. Alternatively spliced transcript variants encoding different isoforms have been described.

# Interactive pathway map
Click on genes, proteins and metabolites below to link to respective articles.
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SLC25A3
Phosphate carrier protein, mitochondrial is a protein that in humans is encoded by the SLC25A3 gene. The encoded protein is a transmembrane protein located in the mitochondrial inner membrane and catalyzes the transport of phosphate ions across it for the purpose of oxidative phosphorylation. There are two significant isoforms of this gene expressed in human cells, which differ slightly in structure and function. Mutations in this gene can cause mitochondrial phosphate carrier deficiency (MPCD), a fatal disorder of oxidative phosphorylation symptomized by lactic acidosis, neonatal hypotonia, hypertrophic cardiomyopathy, and death within the first year of life.

# Structure
The SLC25A3 gene is located on the q arm of chromosome 12 in position 23.1 and spans 8,376 base pairs. The gene has 9 exons and produces a 40.1 kDa protein composed of 362 amino acids. The encoded protein (PHC) is a multi-pass transmembrane protein located in the mitochondrial inner membrane; it contains six transmembrane segments, emerging into a large extramembranous loop. Both the N-terminal and C-terminal regions of this protein protrude toward the cytosol. PHC contains three related segments arranged in tandem which are related to those found in other characterized members of the mitochondrial carrier family. There exist two transcript variants of this protein, PHC-A and PHC-B, which differ by 13 amino acids. Isoform A contains 42 amino acids while Isoform B contains 41. In vitro, the isoforms differ in their substrate affinities and transport rates.

# Function
The encoded protein (PHC) catalyzes the transport of phosphate from the cytosol into the mitochondrial matrix, either by proton cotransport or in exchange for hydroxyl ions. In the final steps of oxidative phosphorylation, this protein catalyzes the uptake of a phosphate ion with a proton across the mitochondrial inner membrane. The availability of inorganic phosphate for oxidative phosphorylation is mainly dependent on PHC activity. To substantially affect oxidative phosphorylation, PHC depletion must be severe, exceeding 85%. This protein may be involved in regulation of the mitochondrial permeability transition pore (mPTP).

# Clinical significance
Mutations in this gene can cause mitochondrial phosphate carrier deficiency (MPCD), a fatal disorder of oxidative phosphorylation. Symptoms include lactic acidosis, hypertrophic cardiomyopathy, and neonatal hypotonia; afflicted patients die within the first year of life.
Isoform A of this gene is expressed at high levels in heart, pancreatic, and skeletal muscle cells while Isoform B is expressed in all tissues, albeit poorly.
In the sole recorded case of a mutation in this gene, a homozygous mutation (c.215G>A) in the alternatively spliced exon 3A of this gene caused an amino acid replacement (G72E) in Isoform A. This leads to ATP synthase deficiency in muscle cells, which express Isoform A, but not in fibroblasts, which express Isoform B, causing MPCD and the aforementioned standard symptoms.

# Interactions
The encoded protein interacts with PPIF; this interaction is impaired by CsA.
SLC26A3
Solute carrier family 26, member 3, also known as CLD (chloride anion exchanger), or DRA (downregulated-in-adenoma)  is a protein that in humans is encoded by the SLC26A3 gene.

# Function
The downregulated-in-adenoma (DRA) is a membrane protein in intestinal cells. It is an anion exchanger and a member of the sulfate anion transporter (SAT) family. It mediates chloride and bicarbonate exchange and additionally transports sulfate and other anions at the apical membrane, part of the plasma membrane of enterocytes.  It is different from the anion exchanger that present in erythrocytes, renal tubule, and several other tissues.
The protein encoded by this gene is a transmembrane glycoprotein that functions as a sulfate transporter. It is localized to the mucosa of the lower intestinal tract, particularly to the apical membrane of columnar epithelium and some goblet cells, and is instrumental in chloride reuptake, aiding in the creation of an osmotic gradient for resorption of fluid from the lumen of the intestine.

# Clinical significance
Mutations in this gene have been associated with congenital chloride diarrhoea, a treatable disease.
The congenital absence of this membrane protein results in an autosomal recessive disorder called congenital chloridorrhea or congenital chloride diarrhea (CLD).
SLC33A1
Acetyl-coenzyme A transporter 1 also known as solute carrier family 33 member 1 (SLC33A1) is a protein that in humans is encoded by the SLC33A1 gene.

# Function
The protein encoded by this gene is required for the formation of O-acetylated (Ac) gangliosides. The encoded protein is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III.

# Clinical significance
Defects in this gene have been reported to cause spastic paraplegia autosomal dominant type 42 (SPG42) in one Chinese family, but not in similar patients of European descent.
SLC34A3
Sodium-dependent phosphate transport protein 2C is a protein that in humans is encoded by the SLC34A3 gene.

# Function
SLC34A3 contributes to the maintenance of inorganic phosphate concentration at the kidney.

# Interactions
SLC34A3 has been shown to interact with PDZK1.

# Clinical Correlation
A mutation in the SLC34A3 gene has been known to cause the autosomal recessive condition hereditary hypophophatemic rickets with hypercalciuria. This gene is correlated closely with SLC34A1, an analogue sodium phosphate cotransporter protein. Symptoms include renal phosphate wasting in addition to increase levels of 1,25-dihydroxyvitamin D (yields the hypercalcuria).
SLC35F6
SLC35F6 is a protein that in humans is encoded by the SLC35F6 gene. The orthologue in mice is 4930471M23Rik.

# Model organisms
Model organisms have been used in the study of C2orf18 function. A conditional knockout mouse line, called 4930471M23Riktm1a(EUCOMM)Wtsi was generated as part of the International Knockout Mouse Consortium program  a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists  at the Wellcome Trust Sanger Institute.
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty two tests were carried out on mutant mice, but no significant abnormalities were observed.
SLC39A7
Zinc transporter SLC39A7 (ZIP7) also known as solute carrier family 39 member 7 (SLC39A7) is a protein that in humans is encoded by the SLC39A7 gene.

# Function
Zinc is an essential cofactor for more than 50 classes of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. Zinc cannot passively diffuse across cell membranes and requires specific transporters, such as SLC39A7, to enter the cytosol from both the extracellular environment and from intracellular storage compartments.
ZIP7 is a membrane transport protein of the endoplasmic reticulum. Phosphorylation of ZIP7 by casein kinase 2 stimulates the release of zinc ions from the endoplasmic reticulum This provides a signal transduction pathway by which activation of cell surface receptors such as the epidermal growth factor receptor can regulate the activity of downstream phosphatases and kinases.
SLC41A3
Solute carrier family 41, member 3 is a protein that in humans is encoded by the SLC41A3 gene.

# Model organisms
Model organisms have been used in the study of SLC41A3 function. A conditional knockout mouse line, called Slc41a3tm1a(KOMP)Wtsi was generated as part of the International Knockout Mouse Consortium program  a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty six tests were carried out on mutant mice and one significant abnormality was observed: homozygous mutants displayed abnormal locomotor coordination.
SLC45A2
Membrane-associated transporter protein (MATP) also known as solute carrier family 45 member 2 (SLC45A2) or melanoma antigen AIM1 is a protein that in humans is encoded by the SLC45A2 gene.

# Function
SLC45A2 is a transporter protein that mediates melanin synthesis. SLC45A2 is also a melanocyte differentiation antigen that is expressed in a high percentage of melanoma cell lines. A similar sequence gene in medaka fish, 'B,' encodes a transporter that mediates melanin synthesis. Mutations in this gene are a cause of oculocutaneous albinism type 4. Alternative splicing results in multiple transcript variants encoding different isoforms.
In melanocytic cell types, the SLC45A2 gene is regulated by microphthalmia-associated transcription factor.
SLC45A2 has been found to play a role in pigmentation in several species. In humans, it has been identified as a factor in the light skin of Europeans and as an ancestry-informative marker (AIM) for distinguishing  Sri Lankan from European ancestry. SLC45A2 is the so-called cream gene responsible in horses for buckskin, palomino and cremello coloration, while a mutation in this gene underlies the white tiger variant. SLC45A2 was identified as a melanoma tumor-associated antigen with high tumor specificity and reduced potential for autoimmune toxicity, and is currently in clinical development as a target for T-cell based immunotherapy.
SLC45A3
Solute carrier family 45 member 3 (SLC45A3), also known as prostate cancer-associated protein 6 or prostein, is a protein that in humans is encoded by the SLC45A3 gene.
SLC45A3 is expressed in a prostate-specific manner by normal  tissues and at a significantly lower level in prostate tumor cell lines. Treatment prostate cancer cell lines with androgens upregulates the expression of SLC45A3.

# Regulation
There is evidence that the expression of SLC45A3 is regulated by the microRNA mir-126*.
SLC47A1
Multidrug and toxin extrusion protein 1 (MATE1), also known as solute carrier family 47, member 1, is a protein that in humans is encoded by the SLC47A1 gene. SLC47A1 belongs to the MATE (multidrug and toxic compound extrusion) family of transporters that  are found in bacteria, archaea and eukaryotes.

# Gene
The SLC47A1 gene is located within the Smith-Magenis syndrome region on chromosome 17.

# Function
SLC47A1 is a member of the MATE family of transporters that excrete endogenous and exogenous toxic electrolytes through urine and bile.

# Discovery
The multidrug efflux transporter NorM from V. parahaemolyticus which mediates resistance to multiple antimicrobial agents (norfloxacin, kanamycin, ethidium bromide etc.) and its homologue from E. coli were identified in 1998, which is the first of Solute carrier family 47 member. NorM seems to function as drug/sodium antiporter which is the first example of Na+-coupled multidrug efflux transporter. NorM is a prototype of a new transporter family and Brown et al. named it the multidrug and toxic compound extrusion family. The X-ray structure of the transporter NorM was determined to 3.65 A, revealing an outward-facing conformation with two portals open to the outer leaflet of the membrane and a unique topology of the predicted 12 transmembrane helices distinct from any other known multidrug resistance transporter.
SLC47A2
Solute carrier family 47, member 2, also known as SLC47A2, is a protein which in humans is encoded by the SLC47A2 gene.

# Function
This gene encodes a protein belonging to a family of transporters involved in excretion of toxic electrolytes, both endogenous and exogenous, through urine and bile. This transporter family shares homology with the bacterial MATE (multi antimicrobial extrusion protein or multidrug and toxic compound extrusion) protein family responsible for drug resistance. This gene is one of two members of the MATE transporter family located near each other on chromosome 17. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene.

# Discovery
The multidrug efflux transporter NorM from V. parahaemolyticus which mediates resistance to multiple antimicrobial agents (norfloxacin, kanamycin, ethidium bromide etc.) and its homologue from E. coli were identified in 1998. NorM seems to function as drug/sodium antiporter which is the first example of Na+-coupled multidrug efflux transporter discovered. NorM is a prototype of a new transporter family and Brown et al. named it the multidrug and toxic compound extrusion family. The X-ray structure of the NorM was determined to 3.65 A, revealing an outward-facing conformation with two portals open to the outer leaflet of the membrane and a unique topology of the predicted 12 transmembrane helices distinct from any other known multidrug resistance transporter.
SLC52A3
Solute carrier family 52 (riboflavin transporter), member 3, formerly known as chromosome 20 open reading frame 54 and riboflavin transporter 2, is a protein that in humans is encoded by the SLC52A3 gene.

# Function
This locus likely encodes a transmembrane protein that may function as a riboflavin transporter.

# Clinical significance
Mutations at this locus have been associated with FazioLonde disease and Brown-Vialetto-Van Laere syndrome.

# Model organisms
Model organisms have been used in the study of C20orf54 function. The orthologous gene in mice is called 2310046K01Rik. A conditional knockout mouse line, called 2310046K01Riktm2a(KOMP)Wtsi was generated as part of the International Knockout Mouse Consortium program  a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty five tests were carried out on mutant mice and three significant abnormalities were observed.  No homozygous mutant embryos were identified during gestation, and therefore none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice and males had an increased mean corpuscular haemoglobin concentration.
SLC6A15
Solute carrier family 6 member 15 (SLC6A15) also known as the sodium-dependent neutral amino acid transporter B(0)AT2 (B0AT2)' is a protein that in humans is encoded by the SLC6A15 gene.

# Function
SLC6A15 shows structural characteristics of an Na+ and Cl-dependent neurotransmitter transporter, including 12 transmembrane (TM) domains, intracellular N and C termini, and large extracellular loops containing multiple N-glycosylation sites.

# Clinical relevance
Variants of this gene linked with depression are associated with reduced SLC6A15 expression in the human hippocampus, as well as decreased volume of this brain region.
SLCO1B3
Solute carrier organic anion transporter family member 1B3 (SLCO1B3) also known as organic anion-transporting polypeptide 1B3 (OATP1B3) is a protein that in humans is encoded by the SLCO1B3 gene.
OATP1B3 is a 12-transmembrane domain influx transporter. Normally expressed in the liver, the transporter functions to uptake large, non-polar drugs and hormones from the portal vein.

# Clinical significance
OATP1B3 has also been identified as a transporter aberrantly expressed in prostate cancer and implicated in prostate cancer progression. Increasing mRNA expression of OATP1B3 was also correlated to prostate cancer Gleason score.
In addition, lower expression of OATP1B3 mRNA was also detected in testicular cancer.

# Substrates
Small molecules that are transported by SLCO1B3 include:
- Amanitin
- Atrasentan
- Bilirubin
- Bosentan
- BQ-123
- Bromsulphthalein (BSP)
- CDCA-NBD
- Cholate (CA)
- Cholecystokinin octapeptide (CCK-8)
- Dehydroepiandroserone-3-sulfate (DHEAS)
- Deltorphin II
- Demethylphalloin
- Digoxin
- Docetaxel
- enkephalin (DPDPE)
- Enalapril
- Estradiol-17-glucuronide 525
- Estrone-3-sulfate
- Fexofenadine
- Fluvastatin
- Fluo-3
- Glutathione (GSH)
- Glycocholate (GCA)
- Glycoursodeoxycholate (GUDCA)
- Irinotecan
- Leukotriene C4 (LTC4)
- Methotrexate
- Microcystin
- Monoglyucuronosyl
- Olmesartan
- Ouabain
- Paclitaxel
- Phalloidin
- Pitavastatin
- Rifampicin
- Ro 48-5033 (Bosentan metabolite)
- Rosuvastatin
- SN-38
- Taurocholate (TCA)
- Taurochenodeoxycholate (TCDCA)
- Taurodeoxycholate (TDCA)
- Tauroursodeoxycholate (TUDCA)
- Telmisartan
- Thyroxine (T4)
- TR-14035
- Triiodothyronine (T3)
- Valsartan
SLCO2A1
Solute carrier organic anion transporter family, member 2A1 also known as the prostaglandin transporter (PGT) is a protein that in humans is encoded by the SLCO2A1 gene.
This gene encodes a prostaglandin transporter that is a member of the 12-membrane-spanning organic anion-transporting polypeptide superfamily of transporters. The encoded protein may be involved in mediating the uptake and clearance of prostaglandins in numerous tissues.

# Clinical relevance
Mutations in this gene have been shown to cause primary hypertrophic osteoarthropathy.
SLITRK6
SLIT and NTRK-like protein 6 is a protein that in humans is encoded by the SLITRK6 gene.

# Function
Members of the SLITRK family, such as SLITRK6, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1). Most SLITRKs, including SLITRK6, also have C-terminal regions that share homology with neurotrophin receptors (see NTRK1). SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity.

# Clinical significance
Mutations in SLITRK6 cause high myopia and deafness in humans and mice.

# As a drug target
The protein is the target for the antibody-drug conjugate ASG-15ME which is in phase 1 clinical trials for urothelial cancer.
SMARCA5
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5 is a protein that in humans is encoded by the SMARCA5 gene.

# Function
The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The protein encoded by this gene is a component of the chromatin remodeling and spacing factor RSF, a facilitator of the transcription of class II genes by RNA polymerase II. The encoded protein is similar in sequence to the Drosophila ISWI chromatin remodeling protein.

# Interactions
SMARCA5 has been shown to interact with RAD21, Histone deacetylase 2, POLE3, SATB1 and BAZ1A.
SMARCE1
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1 is a protein that in humans is encoded by the SMARCE1 gene.

# Function
The protein encoded by this gene is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The encoded protein, either alone or when in the SWI/SNF complex, can bind to 4-way junction DNA, which is thought to mimic the topology of DNA as it enters or exits the nucleosome. The protein contains a DNA-binding HMG domain, but disruption of this domain does not abolish the DNA-binding or nucleosome-displacement activities of the SWI/SNF complex. Unlike most of the SWI/SNF complex proteins, this protein has no yeast counterpart.

# Interactions
SMARCE1 has been shown to interact with Estrogen receptor alpha, SMARCB1 and SMARCA4.