SLC17A1

Summary

SLC17A1 (solute carrier family 17 member 1, HGNC:10929) is a protein-coding gene on chromosome 6p22.2, encoding Sodium-dependent phosphate transport protein 1 (Q14916). Important for the resorption of phosphate by the kidney.

Predicted to enable transmembrane transporter activity. Involved in sodium-dependent phosphate transport; urate metabolic process; and urate transport. Located in apical plasma membrane.

Source: NCBI Gene 6568 — RefSeq curated summary.

At a glance

• GWAS associations: 95
• Clinical variants (ClinVar): 150 total
• Druggable target: yes
• MANE Select transcript: NM_005074

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10929
Approved symbol	SLC17A1
Name	solute carrier family 17 member 1
Location	6p22.2
Locus type	gene with protein product
Status	Approved
Aliases	NAPI-1
Ensembl gene	ENSG00000124568
Ensembl biotype	protein_coding
OMIM	182308
Entrez	6568

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 nonsense_mediated_decay

ENST00000244527, ENST00000377886, ENST00000468082, ENST00000476801, ENST00000867421, ENST00000867422, ENST00000867423

RefSeq mRNA: 1 — MANE Select: NM_005074 NM_005074

CCDS: CCDS4565

Canonical transcript exons

ENST00000244527 — 13 exons

Exon	Start	End
ENSE00000848431	25826461	25826633
ENSE00000848432	25819682	25819915
ENSE00000848433	25819511	25819598
ENSE00000848434	25819068	25819154
ENSE00000848435	25813095	25813213
ENSE00001475425	25782915	25783218
ENSE00001475442	25830524	25830607
ENSE00001555844	25831994	25832052
ENSE00003531839	25798783	25798919
ENSE00003538723	25812831	25812992
ENSE00003540972	25811398	25811545
ENSE00003564946	25811638	25811770
ENSE00003661327	25800890	25800980

Expression profiles

Bgee: expression breadth broad, 58 present calls, max score 89.72.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1657 / max 110.3404, expressed in 16 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
72281	0.1548	16
72280	0.0063	4
72282	0.0045	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adult mammalian kidney	UBERON:0000082	89.72	gold quality
right lobe of liver	UBERON:0001114	87.89	gold quality
kidney	UBERON:0002113	82.23	gold quality
liver	UBERON:0002107	79.59	gold quality
nephron tubule	UBERON:0001231	75.87	gold quality
kidney epithelium	UBERON:0004819	74.15	gold quality
cortex of kidney	UBERON:0001225	72.81	gold quality
metanephric glomerulus	UBERON:0004736	69.07	gold quality
metanephros cortex	UBERON:0010533	68.74	gold quality
renal glomerulus	UBERON:0000074	67.83	gold quality
metanephros	UBERON:0000081	65.78	gold quality
adult organism	UBERON:0007023	65.61	gold quality
tibialis anterior	UBERON:0001385	63.90	silver quality
buccal mucosa cell	CL:0002336	62.31	silver quality
lower lobe of lung	UBERON:0008949	61.57	silver quality
renal medulla	UBERON:0000362	59.15	gold quality
ileal mucosa	UBERON:0000331	55.84	silver quality
deltoid	UBERON:0001476	55.73	gold quality
pancreatic ductal cell	CL:0002079	55.49	silver quality
islet of Langerhans	UBERON:0000006	54.38	gold quality
cranial nerve II	UBERON:0000941	52.98	silver quality
left testis	UBERON:0004533	52.50	gold quality
Brodmann (1909) area 46	UBERON:0006483	52.19	gold quality
testis	UBERON:0000473	51.76	gold quality
quadriceps femoris	UBERON:0001377	51.61	gold quality
male germ cell	CL:0000015	51.16	gold quality
right testis	UBERON:0004534	51.15	gold quality
Brodmann (1909) area 10	UBERON:0013541	51.03	gold quality
sperm	CL:0000019	50.92	gold quality
mucosa of transverse colon	UBERON:0004991	50.67	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-131882	yes	2438.44
E-CURD-119	yes	2018.03
E-ANND-3	yes	6.61
E-GEOD-75367	no	29.06

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): HNF1A

miRNA regulators (miRDB)

22 targeting SLC17A1, 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-12118	100.00	65.88	1270
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-7-5P	99.67	70.53	1809
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-4643	99.49	67.63	1791
HSA-MIR-4666A-5P	99.41	69.72	1887
HSA-MIR-4786-3P	99.36	68.35	1390
HSA-MIR-223-5P	99.24	68.82	1206
HSA-MIR-8060	98.61	66.93	1187
HSA-MIR-581	98.39	67.42	835
HSA-MIR-7843-3P	98.31	67.94	803
HSA-MIR-299-3P	97.73	66.67	773
HSA-MIR-6857-3P	96.70	65.43	915

Literature-anchored findings (GeneRIF, showing 13)

• structure and promoter activity, molecular cloning (PMID:11704559)
• data suggest that SLC17A1 polymorphisms are associated with the development of gout. (PMID:19556210)
• results strongly suggested that NPT1 is a Cl(-)-dependent polyspecific anion exporter involved in urate excretion under physiological conditions (PMID:20566650)
• Renal urate transporter SLC17A1 is the third locus associated with gout at a genome-wide level of significance. (PMID:22541845)
• We observed a clear effect of SLC17A1 genotype on fructose load in Europeans but not Polynesian subgroups. (PMID:23852697)
• NPT1 is responsible for urate excretion under physiological conditions and its impairment is linked with the occurrence of gout. [review] (PMID:23876149)
• NPT1/SLC17A1 is a renal urate exporter in humans and its common gain-of-function variant decreases the risk of renal underexcretion gout. (PMID:25252215)
• Polymorphisms in GCKR, SLC17A1 and SLC22A12 were associated with phenotype gout in Han Chinese males. (PMID:26290326)
• Data suggest that single nucleotide polymorphisms (SNPs) of solute carrier family 17 member 1 (SLC17A1) are potential biomarkers for altered cholesterol homeostasis and hyperhomocysteinaemia in Japanese men. (PMID:26524967)
• Data suggest that single nucleotide polymorphisms (SNPs) rs9467596 and rs2096386 of the solute carrier family 17 (sodium phosphate), member 1 protein (SLC17A1) gene may have a correlation between hyperuricemia and alcohol drinking among Uygur patients. (PMID:26663070)
• A meta-analysis of all gout with Japanese, Caucasian and NZ Polynesian populations revealed that rs2285340 of SLC22A12 and rs1165196 of SLC17A1 showed a significant association but did not reach a genome-wide significance level. (PMID:27899376)
• I269T, a common missense variant of NPT1, might have faster conformation changes than NPT1 wild type in terms of the alternating-access model of transporters, and increases renal urate export in humans. (PMID:27906618)
• Examining the Association of Rare Allelic Variants in Urate Transporters SLC22A11, SLC22A13, and SLC17A1 with Hyperuricemia and Gout. (PMID:38222853)

Cross-species orthologs

58 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc17a5	ENSDARG00000055190
danio_rerio	slc37a4b	ENSDARG00000077180
danio_rerio	si:ch1073-513e17.1	ENSDARG00000086739
danio_rerio	slc37a4bl	ENSDARG00000093531
		ENSDARG00000099322
mus_musculus	Slc17a1	ENSMUSG00000021335
rattus_norvegicus	AABR07027750.1	ENSRNOG00000042692
drosophila_melanogaster	dmGlut	FBGN0010497
drosophila_melanogaster	MFS14	FBGN0010651
drosophila_melanogaster	Picot	FBGN0024315
drosophila_melanogaster	CG9254	FBGN0028513
drosophila_melanogaster	CG6978	FBGN0029727
drosophila_melanogaster	VGlut	FBGN0031424
drosophila_melanogaster	CG7881	FBGN0033048
drosophila_melanogaster	MFS12	FBGN0033234
drosophila_melanogaster	MFS15	FBGN0034392
drosophila_melanogaster	CG15096	FBGN0034394
drosophila_melanogaster	MFS16	FBGN0034611
drosophila_melanogaster	CG12490	FBGN0034782
drosophila_melanogaster	CG9825	FBGN0034783
drosophila_melanogaster	CG9826	FBGN0034784
drosophila_melanogaster	CG3649	FBGN0034785
drosophila_melanogaster	CG2003	FBGN0039886
drosophila_melanogaster	CG30265	FBGN0050265
drosophila_melanogaster	MFS1	FBGN0050272
caenorhabditis_elegans		WBGENE00001135
caenorhabditis_elegans		WBGENE00007669
caenorhabditis_elegans		WBGENE00008000
caenorhabditis_elegans		WBGENE00008677
caenorhabditis_elegans		WBGENE00010755
caenorhabditis_elegans		WBGENE00010931
caenorhabditis_elegans		WBGENE00011185
caenorhabditis_elegans		WBGENE00011349
caenorhabditis_elegans		WBGENE00011556
caenorhabditis_elegans		WBGENE00011688
caenorhabditis_elegans		WBGENE00011718
caenorhabditis_elegans		WBGENE00012443
caenorhabditis_elegans		WBGENE00015271
caenorhabditis_elegans		WBGENE00015272
caenorhabditis_elegans		WBGENE00016003
caenorhabditis_elegans		WBGENE00018429
caenorhabditis_elegans		WBGENE00018918
caenorhabditis_elegans		WBGENE00018920
caenorhabditis_elegans		WBGENE00019187
caenorhabditis_elegans		WBGENE00019655
caenorhabditis_elegans		WBGENE00020583
caenorhabditis_elegans		WBGENE00020584
caenorhabditis_elegans		WBGENE00020697
caenorhabditis_elegans		WBGENE00020698
caenorhabditis_elegans		WBGENE00020699
caenorhabditis_elegans		WBGENE00020700
caenorhabditis_elegans		WBGENE00021157
caenorhabditis_elegans		WBGENE00021158
caenorhabditis_elegans		WBGENE00021219
caenorhabditis_elegans		WBGENE00021220
caenorhabditis_elegans		WBGENE00021223
caenorhabditis_elegans		WBGENE00021226
caenorhabditis_elegans		WBGENE00302978

Paralogs (12): SLC17A6 (ENSG00000091664), SLC17A9 (ENSG00000101194), SLC17A7 (ENSG00000104888), SLC17A2 (ENSG00000112337), SLC17A5 (ENSG00000119899), SLC17A3 (ENSG00000124564), SLC37A2 (ENSG00000134955), SLC37A4 (ENSG00000137700), SLC17A4 (ENSG00000146039), SLC37A3 (ENSG00000157800), SLC37A1 (ENSG00000160190), SLC17A8 (ENSG00000179520)

Protein

Protein identifiers

Sodium-dependent phosphate transport protein 1 — Q14916 (reviewed: Q14916)

Alternative names: Na(+)/PI cotransporter 1, Na/Pi-4, Renal Na(+)-dependent phosphate cotransporter 1, Renal sodium-dependent phosphate transport protein 1, Sodium/phosphate cotransporter 1, Solute carrier family 17 member 1

All UniProt accessions (2): E9PGW3, Q14916

UniProt curated annotations — full annotation on UniProt →

Function. Important for the resorption of phosphate by the kidney. May be involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane. Plays a role in urate transport in the kidney.

Subunit / interactions. Interacts with PDZK1.

Subcellular location. Apical cell membrane.

Tissue specificity. Expressed in kidney cortex, liver and brain but not in other tissues.

Similarity. Belongs to the major facilitator superfamily. Sodium/anion cotransporter family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q14916-1	1	yes
Q14916-2	2

RefSeq proteins (1): NP_005065* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004745	Pi_cotranspt	Family
IPR011701	MFS	Family
IPR020846	MFS_dom	Domain
IPR036259	MFS_trans_sf	Homologous_superfamily
IPR050382	MFS_Na/Anion_cotransporter	Family

Pfam: PF07690

Catalyzed reactions (Rhea), 2 shown:

• urate(out) = urate(in) (RHEA:60368)
• 3 Na(+)(out) + phosphate(out) = 3 Na(+)(in) + phosphate(in) (RHEA:71255)

UniProt features (24 total): transmembrane region 10, sequence conflict 7, glycosylation site 3, sequence variant 2, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14916-F1	86.54	0.58

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 (3): 41, 49, 58

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-427652	Sodium-coupled phosphate cotransporters
R-HSA-428643	Organic anion transport by SLC5/17/25 transporters

MSigDB gene sets: 119 (showing top): GOBP_SODIUM_ION_TRANSMEMBRANE_TRANSPORT, GOBP_INORGANIC_ANION_TRANSPORT, MORF_RAD51L3, GOBP_MONOATOMIC_CATION_TRANSPORT, MORF_CTSB, MORF_IL4, GOBP_PHOSPHATE_ION_TRANSPORT, GOBP_ORGANIC_ANION_TRANSPORT, MORF_THPO, GOCC_APICAL_PLASMA_MEMBRANE, FLECHNER_BIOPSY_KIDNEY_TRANSPLANT_REJECTED_VS_OK_DN, GOBP_URATE_METABOLIC_PROCESS, MORF_ATF2, GOBP_PURINE_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOBP_TRANSMEMBRANE_TRANSPORT

GO Biological Process (9): monoatomic ion transport (GO:0006811), phosphate ion transport (GO:0006817), urate transport (GO:0015747), phosphate ion transmembrane transport (GO:0035435), sodium-dependent phosphate transport (GO:0044341), urate metabolic process (GO:0046415), sodium ion transport (GO:0006814), sodium ion transmembrane transport (GO:0035725), transmembrane transport (GO:0055085)

GO Molecular Function (4): sodium:phosphate symporter activity (GO:0005436), transmembrane transporter activity (GO:0022857), phosphate transmembrane transporter activity (GO:0005315), symporter activity (GO:0015293)

GO Cellular Component (4): plasma membrane (GO:0005886), membrane (GO:0016020), apical plasma membrane (GO:0016324), endomembrane system (GO:0012505)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
SLC-mediated transport of inorganic anions	1
SLC-mediated transport of organic anions	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transport	2
phosphate ion transport	2
transmembrane transport	2
secondary active transmembrane transporter activity	2
cellular anatomical structure	2
inorganic anion transport	1
nitrogen compound transport	1
small molecule metabolic process	1
purine-containing compound metabolic process	1
metal ion transport	1
sodium ion transport	1
monoatomic cation transmembrane transport	1
cellular process	1
phosphate transmembrane transporter activity	1
solute:sodium symporter activity	1
transporter activity	1
membrane	1
cell periphery	1
apical part of cell	1
plasma membrane region	1
vacuole	1
plasma membrane	1

Protein interactions and networks

STRING

702 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC17A1	SLC34A1	Q06495	926
SLC17A1	SLC22A12	Q96S37	924
SLC17A1	SLC22A11	Q9NSA0	924
SLC17A1	SLC34A2	O95436	885
SLC17A1	SLC2A9	Q9NRM0	876
SLC17A1	SLC18B1	Q6NT16	859
SLC17A1	PDZK1	Q5T2W1	845
SLC17A1	ABCG2	Q9UNQ0	803
SLC17A1	SLC18A1	P54219	802
SLC17A1	SLC34A3	Q8N130	749
SLC17A1	SLC16A9	Q7RTY1	737
SLC17A1	SLC22A13	Q9Y226	725
SLC17A1	ABCC4	O15439	718
SLC17A1	CARMIL1	Q5VZK9	693
SLC17A1	SLC16A1	P53985	684

IntAct

122 interactions, top by confidence:

A	B	Type	Score
SLC17A1	MAST2	psi-mi:“MI:0407”(direct interaction)	0.440
SLC17A1	SHANK1	psi-mi:“MI:0407”(direct interaction)	0.440
SLC17A1	GOPC	psi-mi:“MI:0407”(direct interaction)	0.440
SLC17A1	MAST1	psi-mi:“MI:0407”(direct interaction)	0.440
SLC17A1	PDZD7	psi-mi:“MI:0407”(direct interaction)	0.440
SLC17A1	ARHGEF12	psi-mi:“MI:0407”(direct interaction)	0.440
SLC17A1	PDZK1	psi-mi:“MI:0407”(direct interaction)	0.440
SLC17A1	TAMALIN	psi-mi:“MI:0407”(direct interaction)	0.440
SLC17A1	MAGI2	psi-mi:“MI:0407”(direct interaction)	0.440
SLC17A1	MAGI1	psi-mi:“MI:0407”(direct interaction)	0.440
SLC17A1	MAGI3	psi-mi:“MI:0407”(direct interaction)	0.440
SLC17A1	NHERF2	psi-mi:“MI:0407”(direct interaction)	0.440
PARD3B	SLC17A1	psi-mi:“MI:0407”(direct interaction)	0.440
SLC17A1	SNX27	psi-mi:“MI:0407”(direct interaction)	0.440
SLC17A1	DLG1	psi-mi:“MI:0407”(direct interaction)	0.440
SLC17A1	ARHGEF11	psi-mi:“MI:0407”(direct interaction)	0.440
SLC17A1	GRID2IP	psi-mi:“MI:0407”(direct interaction)	0.440
SCRIB	SLC17A1	psi-mi:“MI:0407”(direct interaction)	0.440
SLC17A1	SNTG2	psi-mi:“MI:0407”(direct interaction)	0.440
PDZK1	SLC17A1	psi-mi:“MI:0407”(direct interaction)	0.440
SLC17A1	SCRIB	psi-mi:“MI:0407”(direct interaction)	0.440
SLC17A1	NHERF4	psi-mi:“MI:0407”(direct interaction)	0.440
SLC17A1	DLG4	psi-mi:“MI:0407”(direct interaction)	0.440
SLC17A1	FRMPD4	psi-mi:“MI:0407”(direct interaction)	0.440
SLC17A1	RHPN1	psi-mi:“MI:0407”(direct interaction)	0.440
SLC17A1	APBA3	psi-mi:“MI:0407”(direct interaction)	0.440
SLC17A1	PALS2	psi-mi:“MI:0407”(direct interaction)	0.440
SLC17A1	APBA2	psi-mi:“MI:0407”(direct interaction)	0.440
SLC17A1	MPP2	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (10): SLC17A1 (Two-hybrid), SLC17A1 (Synthetic Lethality), ACTG1 (Affinity Capture-MS), DLAT (Affinity Capture-MS), CCBL2 (Affinity Capture-MS), RAB31 (Affinity Capture-MS), RAB9A (Affinity Capture-MS), SDHB (Affinity Capture-MS), SGTA (Affinity Capture-MS), STOM (Affinity Capture-MS)

ESM2 similar proteins: A4FV52, A6QLI1, O00476, O00624, O61369, O62786, P34272, P34644, P38142, Q03567, Q05B21, Q10046, Q14916, Q1L8X9, Q21455, Q28722, Q2QWW7, Q32LF0, Q3TXX4, Q3UHK1, Q5NCM1, Q5SZA1, Q5W8I7, Q5W8I8, Q61983, Q62634, Q62795, Q66KG0, Q6INC8, Q7TSF2, Q7ZX53, Q8BFU8, Q8BLE7, Q8NDX2, Q921A2, Q95R48, Q961J5, Q96QE2, Q9C757, Q9FKV1

Diamond homologs: A4FV52, A6QLI1, O00476, O00624, O61369, O82390, P34644, Q03567, Q05B21, Q0IZQ3, Q10046, Q14916, Q1L8X9, Q28722, Q2QWW7, Q32LF0, Q3E9A0, Q3TXX4, Q53P54, Q5NCM1, Q5Q0U0, Q5SZA1, Q5W8I7, Q5W8I8, Q61983, Q62634, Q62795, Q652N5, Q66GI9, Q6INC8, Q7TSF2, Q8BFU8, Q8BLE7, Q8BN82, Q8GX78, Q8NDX2, Q9FKV1, Q9JI12, Q9MZD1, Q9NRA2

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 77 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Ras activation upon Ca2+ influx through NMDA receptor	5	57.1×	9e-07
Unblocking of NMDA receptors, glutamate binding and activation	5	54.4×	9e-07
Negative regulation of NMDA receptor-mediated neuronal transmission	5	54.4×	9e-07
Assembly and cell surface presentation of NMDA receptors	10	50.8×	3e-13
Dopamine Neurotransmitter Release Cycle	5	49.6×	1e-06
Long-term potentiation	5	47.6×	1e-06
Neurexins and neuroligins	11	43.3×	1e-13
Protein-protein interactions at synapses	7	37.2×	4e-08

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	11	85.2×	1e-16
protein localization to synapse	6	61.3×	5e-08
receptor clustering	7	58.2×	5e-09
regulation of postsynaptic membrane neurotransmitter receptor levels	7	46.3×	2e-08
protein-containing complex assembly	9	13.7×	1e-06
cell-cell adhesion	9	12.2×	3e-06
protein localization to plasma membrane	5	7.2×	9e-03
chemical synaptic transmission	7	7.2×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	122
Likely benign	10
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

1795 predictions. Top by Δscore:

Variant	Effect	Δscore
6:25830604:CCCA:C	acceptor_gain	1.0000
6:25830605:CCA:C	acceptor_gain	1.0000
6:25830605:CCAC:C	acceptor_gain	1.0000
6:25830606:CAC:C	acceptor_gain	1.0000
6:25830608:C:CC	acceptor_gain	1.0000
6:25819692:C:CA	donor_gain	0.9900
6:25819728:C:CA	donor_gain	0.9900
6:25830606:CA:C	acceptor_gain	0.9900
6:25831989:CTAA:C	donor_loss	0.9900
6:25831990:TAACC:T	donor_loss	0.9900
6:25831991:AAC:A	donor_loss	0.9900
6:25831993:C:CA	donor_loss	0.9900
6:25811741:CAAA:C	acceptor_gain	0.9800
6:25811744:A:AC	acceptor_gain	0.9800
6:25811744:A:C	acceptor_gain	0.9800
6:25812988:CTGAC:C	acceptor_gain	0.9800
6:25783226:T:C	acceptor_gain	0.9700
6:25783226:T:TC	acceptor_gain	0.9700
6:25815621:C:CT	donor_gain	0.9700
6:25815622:T:TT	donor_gain	0.9700
6:25819597:CCCT:C	acceptor_loss	0.9700
6:25819598:CCT:C	acceptor_loss	0.9700
6:25819599:C:CA	acceptor_loss	0.9700
6:25819600:T:G	acceptor_loss	0.9700
6:25821935:T:C	acceptor_gain	0.9700
6:25830603:ACCCA:A	acceptor_gain	0.9700
6:25830604:CCCAC:C	acceptor_gain	0.9700
6:25830607:AC:A	acceptor_loss	0.9700
6:25830608:CTGT:C	acceptor_loss	0.9700
6:25830609:T:A	acceptor_loss	0.9700

AlphaMissense

3047 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:25819559:A:G	W161R	0.991
6:25819559:A:T	W161R	0.991
6:25819769:G:C	S118R	0.986
6:25819769:G:T	S118R	0.986
6:25819771:T:G	S118R	0.986
6:25819557:C:A	W161C	0.985
6:25819557:C:G	W161C	0.985
6:25811658:C:G	R337P	0.983
6:25819092:A:G	W198R	0.983
6:25819092:A:T	W198R	0.983
6:25813184:A:G	W216R	0.981
6:25813184:A:T	W216R	0.981
6:25798815:C:A	W458C	0.979
6:25798815:C:G	W458C	0.979
6:25819154:C:T	G177E	0.978
6:25812902:A:G	W276R	0.977
6:25812902:A:T	W276R	0.977
6:25819078:G:C	F202L	0.976
6:25819078:G:T	F202L	0.976
6:25819080:A:G	F202L	0.976
6:25819090:C:A	W198C	0.975
6:25819090:C:G	W198C	0.975
6:25819518:A:C	S174R	0.975
6:25819518:A:T	S174R	0.975
6:25819520:T:G	S174R	0.975
6:25819704:C:G	R140P	0.972
6:25819757:G:C	S122R	0.970
6:25819757:G:T	S122R	0.970
6:25819759:T:G	S122R	0.970
6:25811638:C:G	G344R	0.969

dbSNP variants (sampled 300 via entrez): RS1000016275 (6:25808837 G>A), RS1000128292 (6:25822768 A>G), RS1000140139 (6:25777073 C>T), RS1000172368 (6:25732902 A>C), RS1000195746 (6:25829951 A>G), RS1000200195 (6:25763697 T>C), RS1000213434 (6:25756870 T>C), RS1000216617 (6:25782833 A>G), RS1000273680 (6:25763441 T>C), RS1000322026 (6:25732093 G>A,T), RS1000339805 (6:25790640 A>G), RS1000392756 (6:25818002 C>A,T), RS1000430791 (6:25745913 C>T), RS1000446052 (6:25789845 C>T), RS1000472760 (6:25815852 C>T)

Disease associations

OMIM: gene MIM:182308 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

95 associations (top):

Study	Trait	p-value
GCST000301_21	Iron status biomarkers	5.000000e-07
GCST000418_6	Uric acid levels	3.000000e-14
GCST000433_1	Schizophrenia	1.000000e-08
GCST000814_1	Red blood cell traits	5.000000e-08
GCST000818_6	Urate levels	5.000000e-25
GCST000935_4	Iron status biomarkers	5.000000e-09
GCST001791_28	Urate levels	7.000000e-70
GCST002829_11	Urate levels in overweight individuals	1.000000e-07
GCST002829_32	Urate levels in overweight individuals	4.000000e-15
GCST002829_42	Urate levels in overweight individuals	1.000000e-09
GCST002830_1	Urate levels in lean individuals	9.000000e-06
GCST002830_26	Urate levels in lean individuals	3.000000e-13
GCST002830_8	Urate levels in lean individuals	1.000000e-11
GCST003925_6	Gout	1.000000e-09
GCST004521_113	Autism spectrum disorder or schizophrenia	3.000000e-19
GCST004521_169	Autism spectrum disorder or schizophrenia	4.000000e-14
GCST004521_69	Autism spectrum disorder or schizophrenia	8.000000e-24
GCST004521_83	Autism spectrum disorder or schizophrenia	1.000000e-13
GCST005316_546	Intelligence (MTAG)	9.000000e-10
GCST005316_622	Intelligence (MTAG)	4.000000e-08
GCST005983_47	Serum uric acid levels	1.000000e-19
GCST006073_50	Tenofovir clearance in HIV infection	7.000000e-09
GCST006269_677	General cognitive ability	6.000000e-10
GCST007725_30	Serum uric acid levels	9.000000e-24
GCST007733_37	Serum uric acid levels	1.000000e-22
GCST007733_4	Serum uric acid levels	3.000000e-66
GCST008971_129	Urate levels	4.000000e-126
GCST008972_123	Urate levels	2.000000e-24
GCST008972_168	Urate levels	6.000000e-159
GCST009733_101	Urinary metabolite levels in chronic kidney disease	4.000000e-11

EFO canonical traits (12, from GWAS)

EFO ID	Trait name
EFO:0004461	iron biomarker measurement
EFO:0004761	uric acid measurement
EFO:0004527	mean corpuscular hemoglobin
EFO:0004531	urate measurement
EFO:0004459	ferritin measurement
EFO:0004337	intelligence
EFO:0005116	urinary metabolite measurement
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement
EFO:0008039	BMI-adjusted hip circumference
EFO:0004343	waist-hip ratio
EFO:0004533	alkaline phosphatase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3769298 (SINGLE PROTEIN)

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

PharmGKB variants

2 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs1183201	SLC17A1		0.00	0
rs11754288	SLC17A1, SLC17A4		0.00	0

GtoPdb / IUPHAR curated pharmacology

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

Target class: transporter — Type I sodium-phosphate co-transporters

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases methylation, increases mutagenesis	3
Cyclosporine	decreases expression, affects cotreatment	2
CGP 52608	increases reaction, affects binding	1
perfluoro-n-nonanoic acid	increases expression	1
Atazanavir Sulfate	affects cotreatment, decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Microplastics	affects expression, increases abundance	1
Acetaminophen	affects cotreatment, decreases expression	1
Arsenic	affects methylation	1
Cadmium	increases expression	1
Chenodeoxycholic Acid	affects cotreatment, decreases expression	1
Deoxycholic Acid	affects cotreatment, decreases expression	1
Glycochenodeoxycholic Acid	affects cotreatment, decreases expression	1
Glycocholic Acid	decreases expression, affects cotreatment	1
Glycodeoxycholic Acid	affects cotreatment, decreases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Polystyrenes	affects expression, increases abundance	1
Rifampin	decreases expression	1
Silicon Dioxide	decreases expression	1
Valproic Acid	decreases expression	1
Aflatoxin B1	decreases expression	1
Okadaic Acid	decreases expression	1
Coal Ash	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3773487	Binding	Inhibition of NaPiA1 (unknown origin)	Optimization of a Dicarboxylic Series for in Vivo Inhibition of Citrate Transport by the Solute Carrier 13 (SLC13) Family. — J Med Chem

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D4RW	HuH7-SLC17A1-KO-c1	Cancer cell line	Male
CVCL_D4RX	HuH7-SLC17A1-KO-c3	Cancer cell line	Male

Clinical trials (associated diseases)

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