SLC26A1

Summary

SLC26A1 (solute carrier family 26 member 1, HGNC:10993) is a protein-coding gene on chromosome 4p16.3, encoding Sulfate anion transporter 1 (Q9H2B4). Sodium-independent sulfate anion transporter.

This gene is a member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures, but have markedly different tissue expression patterns. This gene is primarily expressed in the liver, pancreas, and brain. Three splice variants that encode different isoforms have been identified.

Source: NCBI Gene 10861 — RefSeq curated summary.

At a glance

• Gene–disease (curated): nephrolithiasis susceptibility caused by SLC26A1 (Moderate, GenCC)
• GWAS associations: 6
• Clinical variants (ClinVar): 54 total — 2 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 11
• MANE Select transcript: NM_022042

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10993
Approved symbol	SLC26A1
Name	solute carrier family 26 member 1
Location	4p16.3
Locus type	gene with protein product
Status	Approved
Aliases	SAT-1, EDM4
Ensembl gene	ENSG00000145217
Ensembl biotype	protein_coding
OMIM	610130
Entrez	10861

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 8 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000361661, ENST00000398516, ENST00000398520, ENST00000513138, ENST00000622731, ENST00000871988, ENST00000871989, ENST00000871990, ENST00000962470

RefSeq mRNA: 3 — MANE Select: NM_022042 NM_022042, NM_134425, NM_213613

CCDS: CCDS33933, CCDS33934

Canonical transcript exons

ENST00000398516 — 3 exons

Exon	Start	End
ENSE00000969379	991128	991730
ENSE00001533425	987657	990362
ENSE00003846632	993301	993404

Expression profiles

Bgee: expression breadth ubiquitous, 156 present calls, max score 89.96.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1578 / max 18.4061, expressed in 41 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
51033	0.1052	34
51034	0.0526	21

Top tissues by expression

256 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right adrenal gland cortex	UBERON:0035827	89.96	gold quality
left adrenal gland cortex	UBERON:0035825	89.60	gold quality
right lobe of liver	UBERON:0001114	88.66	gold quality
right adrenal gland	UBERON:0001233	88.59	gold quality
metanephros cortex	UBERON:0010533	88.13	gold quality
left adrenal gland	UBERON:0001234	87.94	gold quality
right hemisphere of cerebellum	UBERON:0014890	86.88	gold quality
adrenal cortex	UBERON:0001235	86.26	gold quality
cerebellar hemisphere	UBERON:0002245	85.81	gold quality
endocervix	UBERON:0000458	85.78	gold quality
cerebellar cortex	UBERON:0002129	85.40	gold quality
left lobe of thyroid gland	UBERON:0001120	84.90	gold quality
body of pancreas	UBERON:0001150	84.80	gold quality
body of stomach	UBERON:0001161	84.77	gold quality
adrenal gland	UBERON:0002369	84.74	gold quality
left uterine tube	UBERON:0001303	84.59	gold quality
small intestine Peyer’s patch	UBERON:0003454	84.01	gold quality
adrenal tissue	UBERON:0018303	83.87	gold quality
gall bladder	UBERON:0002110	83.83	gold quality
right lobe of thyroid gland	UBERON:0001119	83.72	gold quality
adenohypophysis	UBERON:0002196	83.29	gold quality
left ovary	UBERON:0002119	83.27	gold quality
thyroid gland	UBERON:0002046	83.17	gold quality
minor salivary gland	UBERON:0001830	83.13	gold quality
transverse colon	UBERON:0001157	83.03	gold quality
cerebellum	UBERON:0002037	82.74	gold quality
pituitary gland	UBERON:0000007	82.65	gold quality
tibial nerve	UBERON:0001323	82.33	gold quality
right ovary	UBERON:0002118	82.22	gold quality
body of uterus	UBERON:0009853	82.21	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.09

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

59 targeting SLC26A1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-3934-3P	99.76	65.51	1351
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-12129	99.72	67.45	1311
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-6762-3P	99.66	66.94	1188
HSA-MIR-1251-3P	99.64	67.21	1408
HSA-MIR-7112-5P	99.59	65.76	104
HSA-MIR-3612	99.45	66.02	1333
HSA-MIR-650	99.45	65.77	1309
HSA-MIR-5580-5P	99.38	66.96	1139
HSA-MIR-4316	99.37	65.75	1360
HSA-MIR-6128	99.33	67.83	1581
HSA-MIR-3692-5P	99.29	67.04	1421
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-3064-5P	99.26	66.13	1497
HSA-MIR-3085-3P	99.26	66.16	1490
HSA-MIR-6504-5P	99.26	65.95	1487
HSA-MIR-4721	99.26	66.05	818
HSA-MIR-7974	99.24	65.48	1137
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-4292	99.16	65.57	1767

Literature-anchored findings (GeneRIF, showing 10)

• Characterization of the SAT1 gene and protein function. (PMID:12713736)
• The expression of three messengers coding for SAT-1, SAT-2 and GalNAcT-1 in human samples of intestinal cancer and some cell lines (breast cancer and melanomas), was evaluated. (PMID:17119850)
• No mutation was found in the coding regions and intron-exon boundaries of the genes for CA II, CA IV, CA XIV, kNCB1, NHE3, NHE8, NHRF1, NHRF2 and SLC26A6 amplified from genomic DNA of family members with pRTA. (PMID:17881426)
• The oxalate precursor glyoxylate was identified as a substrate of sat-1. Upregulated expression of sat-1 mRNA and of sat-1 protein indicates that glyoxylate may be responsible for the elevated oxalate release from hepatocytes observed in hyperoxaluria. (PMID:21093948)
• SLC26A1 protein,point mutation is highly responsible for the hearing loss of newborns. (PMID:23815884)
• Screened the SLC26A1 gene in a cohort of 13 individuals with recurrent calcium oxalate urolithiasis, which is the commonest type. DNA sequence analyses showed missense mutations in seven patients. (PMID:24250268)
• Human SLC26A1 resembles SLC26 paralogs in its inhibition. (PMID:27125215)
• Mutations in SLC26A1 gene is associated with Nephrolithiasis. (PMID:27210743)
• SLC26A1 L348P was associated with lower whole-body bone mineral density (BMD) and higher serum calcium, consistent with the osteochondrodysplasia exhibited by dogs and sheep with naturally occurring, homozygous, loss-of-function mutations in Slc13a1 (PMID:27412988)
• SLC26A1 is a major determinant of sulfate homeostasis in humans. (PMID:36719378)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc26a1	ENSDARG00000029832
mus_musculus	Slc26a1	ENSMUSG00000046959
rattus_norvegicus	Slc26a1	ENSRNOG00000000041

Paralogs (9): SLC26A4 (ENSG00000091137), SLC26A3 (ENSG00000091138), SLC26A8 (ENSG00000112053), SLC26A7 (ENSG00000147606), SLC26A2 (ENSG00000155850), SLC26A5 (ENSG00000170615), SLC26A9 (ENSG00000174502), SLC26A11 (ENSG00000181045), SLC26A6 (ENSG00000225697)

Protein

Protein identifiers

Sulfate anion transporter 1 — Q9H2B4 (reviewed: Q9H2B4)

Alternative names: Solute carrier family 26 member 1

All UniProt accessions (1): Q9H2B4

UniProt curated annotations — full annotation on UniProt →

Function. Sodium-independent sulfate anion transporter. Can transport other anions including bicarbonate, thiosulfate and oxalate by mediating sulfate-thiosulfate, sulfate-hydrogencarbonate and sulfate-oxalate anion exchange. Mediates oxalate-hydrogencarbonate anion exchange.

Subcellular location. Cell membrane. Basolateral cell membrane.

Tissue specificity. Expressed most abundantly in the kidney and liver, with lower levels in the pancreas, testis, brain, small intestine, colon, and lung.

Disease relevance. Nephrolithiasis, calcium oxalate, 1 (CAON1) [MIM:167030] A form of nephrolithiasis, a condition in which urinary supersaturation leads to stone formation in the urinary system. Patients manifest acute renal colic with severe pain originating in the flank. Patients with small, non-obstructing stones or those with staghorn calculi may be asymptomatic. The majority of renal calculi contain calcium. CAON1 is characterized by calcium oxalate kidney stones. The disease is caused by variants affecting the gene represented in this entry. Hypersulfaturia (HYSULF) [MIM:620372] An autosomal recessive inborn error of sulfate homeostasis resulting in urinary sulfate wasting and low plasma sulfate. Clinical features include costochondritis, perichondritis of the costovertebral joints, and chest pain. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H2B4-1	1	yes
Q9H2B4-2	2

RefSeq proteins (3): NP_071325, NP_602297, NP_998778 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001902	SLC26A/SulP_fam	Family
IPR002645	STAS_dom	Domain
IPR011547	SLC26A/SulP_dom	Domain
IPR018045	S04_transporter_CS	Conserved_site
IPR036513	STAS_dom_sf	Homologous_superfamily

Pfam: PF00916, PF01740

Catalyzed reactions (Rhea), 4 shown:

• oxalate(in) + sulfate(out) = oxalate(out) + sulfate(in) (RHEA:72275)
• 2 hydrogencarbonate(out) + sulfate(in) = 2 hydrogencarbonate(in) + sulfate(out) (RHEA:72387)
• oxalate(in) + 2 hydrogencarbonate(out) = oxalate(out) + 2 hydrogencarbonate(in) (RHEA:72391)
• thiosulfate(in) + sulfate(out) = thiosulfate(out) + sulfate(in) (RHEA:73215)

UniProt features (26 total): transmembrane region 9, sequence variant 9, glycosylation site 2, splice variant 2, chain 1, domain 1, region of interest 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H2B4-F1	83.13	0.51

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (2): 158, 163

Function

Pathways and Gene Ontology

Reactome pathways

11 pathways

ID	Pathway
R-HSA-174362	Transport and metabolism of PAPS
R-HSA-427601	Inorganic anion exchange by SLC26 transporters
R-HSA-1430728	Metabolism
R-HSA-156580	Phase II - Conjugation of compounds
R-HSA-156584	Cytosolic sulfonation of small molecules
R-HSA-1630316	Glycosaminoglycan metabolism
R-HSA-211859	Biological oxidations
R-HSA-382551	Transport of small molecules
R-HSA-425393
R-HSA-425407	SLC-mediated transmembrane transport
R-HSA-71387	Metabolism of carbohydrates and carbohydrate derivatives

MSigDB gene sets: 132 (showing top): AP1_01, GOZGIT_ESR1_TARGETS_DN, GOBP_INORGANIC_ANION_TRANSPORT, GOBP_ORGANIC_ACID_TRANSPORT, AP1_Q4_01, GOBP_CHLORIDE_TRANSPORT, BACH2_01, GOBP_ORGANIC_ANION_TRANSPORT, GOBP_BICARBONATE_TRANSPORT, GOBP_SULFUR_COMPOUND_TRANSPORT, chr4p16, TGANTCA_AP1_C, GOBP_DICARBOXYLIC_ACID_TRANSPORT, NRF2_Q4, GOBP_OXALATE_TRANSPORT

GO Biological Process (8): chloride transport (GO:0006821), oxalate transport (GO:0019532), sulfate transmembrane transport (GO:1902358), chloride transmembrane transport (GO:1902476), monoatomic ion transport (GO:0006811), bicarbonate transport (GO:0015701), monoatomic ion transmembrane transport (GO:0034220), transmembrane transport (GO:0055085)

GO Molecular Function (9): solute:inorganic anion antiporter activity (GO:0005452), chloride transmembrane transporter activity (GO:0015108), sulfate transmembrane transporter activity (GO:0015116), sulfate:bicarbonate antiporter activity (GO:0015383), oxalate transmembrane transporter activity (GO:0019531), chloride:bicarbonate antiporter activity (GO:0140900), protein binding (GO:0005515), secondary active sulfate transmembrane transporter activity (GO:0008271), antiporter activity (GO:0015297)

GO Cellular Component (3): plasma membrane (GO:0005886), membrane (GO:0016020), basolateral plasma membrane (GO:0016323)

Reactome top-level categories

Rollup of top-7 pathways:

Category	Pathways
Metabolism	2
Glycosaminoglycan metabolism	1
SLC-mediated transport of inorganic anions	1
Biological oxidations	1
Phase II - Conjugation of compounds	1
Metabolism of carbohydrates and carbohydrate derivatives	1
Transport of small molecules	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transport	3
inorganic anion transport	2
transmembrane transport	2
solute:inorganic anion antiporter activity	2
secondary active transmembrane transporter activity	2
monoatomic anion transport	1
dicarboxylic acid transport	1
sulfur compound transport	1
chloride transport	1
monoatomic anion transmembrane transport	1
monoatomic ion transport	1
cellular process	1
antiporter activity	1
monoatomic anion transmembrane transporter activity	1
chloride transmembrane transport	1
sulfur compound transmembrane transporter activity	1
sulfate transmembrane transport	1
secondary active sulfate transmembrane transporter activity	1
bicarbonate transmembrane transporter activity	1
dicarboxylic acid transmembrane transporter activity	1
oxalate transport	1
chloride transmembrane transporter activity	1
bicarbonate:monoatomic anion antiporter activity	1
binding	1
sulfate transmembrane transporter activity	1
membrane	1
cell periphery	1
cellular anatomical structure	1
basal plasma membrane	1
plasma membrane region	1

Protein interactions and networks

STRING

1442 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC26A1	SLC13A1	Q9BZW2	746
SLC26A1	GRHPR	Q9UBQ7	575
SLC26A1	SLC4A1	P02730	571
SLC26A1	SLC4A4	Q9Y6R1	518
SLC26A1	SLC4A9	Q96Q91	468
SLC26A1	SLC12A6	Q9UHW9	454
SLC26A1	UTP25	Q68CQ4	443
SLC26A1	CFTR	P13569	441
SLC26A1	CPLX1	O14810	440
SLC26A1	ZNF300	Q96RE9	435
SLC26A1	SLC22A5	O76082	420
SLC26A1	ZBTB42	B2RXF5	419
SLC26A1	NELFA	Q9H3P2	418
SLC26A1	SLC4A2	P04920	410
SLC26A1	SLC4A7	Q9Y6M7	407

IntAct

3 interactions, top by confidence:

A	B	Type	Score
SLC26A1	LRRC15	psi-mi:“MI:0914”(association)	0.350
SLC26A1	CLGN	psi-mi:“MI:0914”(association)	0.350

BioGRID (9): SLC26A1 (Reconstituted Complex), SLC26A1 (Affinity Capture-RNA), SLC26A1 (Two-hybrid), LRRC15 (Affinity Capture-MS), DCAKD (Affinity Capture-MS), CLGN (Affinity Capture-MS), DMRT1 (Affinity Capture-MS), FLOT1 (Affinity Capture-MS), FLOT2 (Affinity Capture-MS)

ESM2 similar proteins: A2VDL4, D3ZJ25, F1NXU8, O00341, O19105, O35544, O35874, O35921, O57321, P24942, P31596, P31597, P43003, P43004, P43005, P43006, P43007, P45380, P46411, P48664, P49279, P49280, P51027, P51789, P51906, P51907, P51912, P56436, P56564, P58735, Q10901, Q15758, Q25605, Q27946, Q27981, Q4R8W8, Q5BKR2, Q66HR0, Q80SU6, Q8CIW6

Diamond homologs: A0FKN5, A4IIF2, A8J6J0, D7PC76, O43511, O70531, P40879, P45380, P50443, P53391, P53392, P58735, P58743, Q5EBI0, Q5RAL2, Q62273, Q65AC2, Q69DJ1, Q7LBE3, Q7T2C4, Q8BU91, Q8CIW6, Q8GYH8, Q8HY59, Q8NG04, Q8R2Z3, Q8TE54, Q924C9, Q99NH7, Q9BEG8, Q9BXS9, Q9EPH0, Q9FY46, Q9GJY3, Q9H2B4, Q9JKQ2, Q9R154, Q9R155, Q9SAY1, Q9WVC8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

54 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	2
Uncertain significance	29
Likely benign	11
Benign	4

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
1076378	NM_000203.5(IDUA):c.187C>T (p.Gln63Ter)	Pathogenic
11909	NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)	Pathogenic
1067327	NM_000203.5(IDUA):c.159-2A>C	Likely pathogenic
3591454	NM_000203.5(IDUA):c.299+1G>A	Likely pathogenic

SpliceAI

872 predictions. Top by Δscore:

Variant	Effect	Δscore
4:987807:A:AG	acceptor_gain	1.0000
4:987808:G:GG	acceptor_gain	1.0000
4:987808:GC:G	acceptor_gain	1.0000
4:987808:GCC:G	acceptor_gain	1.0000
4:987808:GCCC:G	acceptor_gain	1.0000
4:987808:GCCCC:G	acceptor_gain	1.0000
4:990362:CCTGT:C	acceptor_loss	1.0000
4:990363:CTGT:C	acceptor_loss	1.0000
4:990364:T:G	acceptor_loss	1.0000
4:991122:CCTCA:C	donor_loss	1.0000
4:991123:CTCAC:C	donor_loss	1.0000
4:991124:TCACC:T	donor_loss	1.0000
4:991125:CACC:C	donor_loss	1.0000
4:991127:C:CA	donor_loss	1.0000
4:993295:TCTTA:T	donor_loss	1.0000
4:993296:CTTA:C	donor_loss	1.0000
4:993297:TTA:T	donor_loss	1.0000
4:993298:TACC:T	donor_loss	1.0000
4:993299:ACC:A	donor_loss	1.0000
4:993300:C:CT	donor_loss	1.0000
4:987805:CCA:C	acceptor_loss	0.9900
4:987806:CA:C	acceptor_loss	0.9900
4:987807:AGCC:A	acceptor_loss	0.9900
4:987808:G:GA	acceptor_loss	0.9900
4:990363:C:CC	acceptor_gain	0.9900
4:991126:A:AC	donor_gain	0.9900
4:991127:C:CC	donor_gain	0.9900
4:991726:CCGAC:C	acceptor_gain	0.9900
4:991727:CGAC:C	acceptor_gain	0.9900
4:991727:CGACC:C	acceptor_gain	0.9900

AlphaMissense

4433 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:991323:G:C	S127R	0.995
4:991323:G:T	S127R	0.995
4:991325:T:G	S127R	0.995
4:989733:G:C	S402R	0.994
4:989733:G:T	S402R	0.994
4:989735:T:G	S402R	0.994
4:990138:G:C	S267R	0.994
4:990138:G:T	S267R	0.994
4:990140:T:G	S267R	0.994
4:991401:G:C	S101R	0.994
4:991401:G:T	S101R	0.994
4:991403:T:G	S101R	0.994
4:989751:G:C	S396R	0.988
4:989751:G:T	S396R	0.988
4:989753:T:G	S396R	0.988
4:989682:G:C	S419R	0.987
4:989682:G:T	S419R	0.987
4:989684:T:G	S419R	0.987
4:989592:G:C	S449R	0.981
4:989592:G:T	S449R	0.981
4:989594:T:G	S449R	0.981
4:990194:A:G	W249R	0.980
4:990194:A:T	W249R	0.980
4:989691:G:C	S416R	0.979
4:989691:G:T	S416R	0.979
4:989693:T:G	S416R	0.979
4:990298:C:T	G214D	0.979
4:989101:A:T	V613D	0.977
4:989787:G:C	N384K	0.977
4:989787:G:T	N384K	0.977

dbSNP variants (sampled 300 via entrez): RS1000185990 (4:988355 G>A,T), RS1000412129 (4:983397 C>T), RS1000422177 (4:980141 G>A), RS1000466664 (4:985239 C>G), RS10005691 (4:979337 G>A,C), RS1000704882 (4:988146 G>A), RS10008164 (4:979583 G>A,T), RS1000853179 (4:981437 C>T), RS1000972174 (4:984626 G>A,T), RS1001078703 (4:984367 T>C), RS1001078883 (4:979652 C>A), RS1001363341 (4:979837 C>G,T), RS1001396860 (4:979972 A>G), RS10014318 (4:979025 C>T), RS1001688106 (4:982343 C>T)

Disease associations

OMIM: gene MIM:610130 | disease phenotypes: MIM:167030, MIM:620372, MIM:607014, MIM:607015, MIM:607016

GenCC curated gene-disease

Disease	Classification	Inheritance
nephrolithiasis susceptibility caused by SLC26A1	Moderate	Autosomal recessive

Mondo (9): nephrolithiasis susceptibility caused by SLC26A1 (MONDO:0020722), hypersulfaturia (MONDO:0957268), mucopolysaccharidosis type 1 (MONDO:0001586), Hurler syndrome (MONDO:0011758), nephrolithiasis, calcium oxalate (MONDO:0957318), Hurler-Scheie syndrome (MONDO:0011759), Scheie syndrome (MONDO:0011760), mucopolysaccharidosis (MONDO:0019249), hereditary disease (MONDO:0003847)

Orphanet (5): Mucopolysaccharidosis type 1 (Orphanet:579), Hurler syndrome (Orphanet:93473), Mucopolysaccharidosis (Orphanet:79213), Scheie syndrome (Orphanet:93474), Hurler-Scheie syndrome (Orphanet:93476)

HPO phenotypes

11 total (11 of 11 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000074	Ureteropelvic junction obstruction
HP:0000787	Nephrolithiasis
HP:0001919	Acute kidney injury
HP:0003159	Hyperoxaluria
HP:0006649	Costochondral pain
HP:0008672	Calcium oxalate nephrolithiasis
HP:0011462	Young adult onset
HP:0011463	Childhood onset
HP:0012613	Increased urinary sulfate
HP:6000854	Decreased circulating sulfate concentration

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST005334_4	Limited cutaneous systemic scleroderma	2.000000e-06
GCST005336_3	Systemic sclerosis	2.000000e-06
GCST006052_8	Polymyositis	8.000000e-06
GCST90020024_1238	A body shape index	2.000000e-08
GCST90020025_1040	Waist-to-hip ratio adjusted for BMI	2.000000e-09
GCST90020027_1863	Waist-hip index	3.000000e-09

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:1001017	limited scleroderma
EFO:0007789	BMI-adjusted waist circumference
EFO:0007788	BMI-adjusted waist-hip ratio

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D030342	Genetic Diseases, Inborn	C16.320
D009083	Mucopolysaccharidoses	C16.320.565.202.715; C16.320.565.595.600; C17.300.550.575; C18.452.648.202.715; C18.452.648.595.600

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — Selective sulphate transporters

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, decreases methylation	2
Endosulfan	increases expression	2
propionaldehyde	decreases expression	1
bisphenol S	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Estradiol	increases expression	1
Pesticides	affects methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	affects expression	1
Urethane	decreases expression	1
Valproic Acid	increases methylation	1
Zidovudine	increases expression	1
Antirheumatic Agents	decreases expression	1
Okadaic Acid	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D4SS	HuH7-SLC26A1-KO-c1	Cancer cell line	Male
CVCL_D4ST	HuH7-SLC26A1-KO-c2	Cancer cell line	Male

Clinical trials (associated diseases)

294 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00144768	PHASE4	COMPLETED	A Study Investigating the Relationship Between the Development of Laronidase Antibody and Urinary GAG (Glycosaminoglycan) Levels in Aldurazyme® Treated Patients
NCT00144781	PHASE4	COMPLETED	A Dose-optimization Study of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I (MPS I) Disease
NCT00418821	PHASE4	TERMINATED	A Study of the Effect of Aldurazyme® (Laronidase) Treatment on Lactation in Female Patients With Mucopolysaccharidosis I (MPS I) and Their Breastfed Infants
NCT05494593	PHASE4	WITHDRAWN	A Study of ELAPRASE in Treatment-naïve Participants With Hunter Syndrome (Mucopolysaccharidosis [MPS] II)
NCT01245374	PHASE4	COMPLETED	Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents
NCT01518062	PHASE4	COMPLETED	Safety of Somatropin and Induction of Puberty With 17-beta-oestradiol in Girls With Turner Syndrome
NCT01734486	PHASE4	COMPLETED	Growth Response in Girls With Turner Syndrome
NCT02642653	PHASE4	COMPLETED	Combining Lovastatin and a Parent-Implemented Language Intervention for Fragile X Syndrome
NCT00258011	PHASE3	COMPLETED	Study of Aldurazyme® Replacement Therapy in Patients With Mucopolysaccharidosis I (MPS I) Disease
NCT06406153	PHASE3	COMPLETED	Efficacy and Safety of YW17 (Laronidase-CinnaGen) Compared to Aldurazyme® in MPS I Patients
NCT00146770	PHASE3	COMPLETED	Phase 3 Extension Study of the Safety and Efficacy of Aldurazyme® (Laronidase) in Mucopolysaccharidosis I (MPS I) Patients
NCT00912925	PHASE3	COMPLETED	Clinical Study of Aldurazyme in Patients With Mucopolysaccharidosis (MPS) I
NCT00654433	PHASE3	TERMINATED	ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transfusion (UCBT) in Patients With Inherited Metabolic Diseases
NCT02230566	PHASE3	COMPLETED	A Phase 3 Study of UX003 Recombinant Human Betaglucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7)
NCT02432144	PHASE3	COMPLETED	A Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Therapy in Subjects With Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7)
NCT00262301	PHASE3	COMPLETED	Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema
NCT01518036	PHASE3	COMPLETED	Use of Somatropin in Turner Syndrome
NCT01529840	PHASE3	COMPLETED	Somatropin Effect on Linear Growth and Final Height in Subjects With Noonan Syndrome
NCT01529944	PHASE3	COMPLETED	Genetic Testing of Noonan Subjects Previously Treated With Norditropin®. An Extension to Trial GHNOO-1658
NCT01563926	PHASE3	COMPLETED	Evaluating Acceptance of New Liquid Somatropin Formulation in Children With Growth Hormone Deficiency
NCT01710696	PHASE3	COMPLETED	Induction of Puberty With 17-beta Estradiol in Girls With Turner Syndrome
NCT01927861	PHASE3	COMPLETED	Investigating the Long-term Efficacy and Safety of Two Doses of NN-220 (Somatropin) in Short Stature Due to Noonan Syndrome
NCT04042402	PHASE3	ACTIVE_NOT_RECRUITING	Long Term Extension Study in Patients With Primary Hyperoxaluria
NCT05238519	PHASE3	ACTIVE_NOT_RECRUITING	Improved Diagnosis of Familial Hypercholesterolemia Across the Northland (ID-FH)
NCT07587242	PHASE3	NOT_YET_RECRUITING	A Phase 3 Study to Evaluate the Safety and Efficacy of AOC 1044 (Also Referred to as Delpacibart Zotadirsen) in Participants With DMD With Gene Mutations Amenable to Exon 44 Skipping
NCT00146757	PHASE2	COMPLETED	A Study Evaluating the Safety and Pharmacokinetics of Aldurazyme® (Laronidase) in MPS I Patients Less Than 5 Years Old
NCT00176891	PHASE2	COMPLETED	Stem Cell Transplant w/Laronidase for Hurler
NCT01043640	PHASE2	COMPLETED	Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders
NCT02171104	PHASE2	ACTIVE_NOT_RECRUITING	MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
NCT02350816	PHASE2	TERMINATED	An Extension Study to Determine Safety and Efficacy for Pediatric Patients With MPS Type IIIA Disease Who Participated in Study HGT-SAN-093.
NCT02418455	PHASE2	COMPLETED	Study of UX003 Recombinant Human Beta-Glucuronidase (rhGUS) Enzyme Replacement Treatment in Mucopolysaccharidosis Type 7, Sly Syndrome (MPS 7) Patients Less Than 5 Years of Age
NCT03632213	PHASE2	UNKNOWN	Evaluation of Losartan on Cardiovascular Disease in Patients With Mucopolysaccharidoses IV A and VI
NCT00261053	PHASE2	COMPLETED	Recombinant Human C1 Inhibitor for the Treatment of Acute Attacks in Patients With Hereditary Angioedema
NCT00358657	PHASE2	TERMINATED	Fludarabine Phosphate, Cyclophosphamide, and Total-Body Irradiation Followed by Donor Bone Marrow Transplant and Cyclophosphamide, Mycophenolate Mofetil, Tacrolimus, and Sirolimus in Treating Patients With Primary Immunodeficiency Disorders or Noncancerous Inherited Disorders
NCT00578435	PHASE2	COMPLETED	Allogeneic Bone Marrow Transplantation for the Treatment of Genetic Disorders of Erythropoiesis
NCT00851409	PHASE2	COMPLETED	A Study of the Safety and Immunogenicity of Repeated rhC1INH Administration
NCT01135537	PHASE2	TERMINATED	Pharmacokinetics of Thymoglobulin in Paediatric Haematopoietic Stem-cell Transplants
NCT01343953	PHASE2	COMPLETED	Cord Blood Transplantation in Severe Aplastic Anemia
NCT01401257	PHASE2	COMPLETED	Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A
NCT01793090	PHASE2	COMPLETED	EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment