SLC25A33

Summary

SLC25A33 (solute carrier family 25 member 33, HGNC:29681) is a protein-coding gene on chromosome 1p36.22, encoding Solute carrier family 25 member 33 (Q9BSK2). Mitochondrial transporter that imports/exports pyrimidine nucleotides into and from mitochondria.

SLC25A33 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).

Source: NCBI Gene 84275 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 56 total
• MANE Select transcript: NM_032315

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29681
Approved symbol	SLC25A33
Name	solute carrier family 25 member 33
Location	1p36.22
Locus type	gene with protein product
Status	Approved
Aliases	MGC4399, BMSC-MCP, PNC1
Ensembl gene	ENSG00000171612
Ensembl biotype	protein_coding
OMIM	610816
Entrez	84275

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 7 protein_coding

ENST00000302692, ENST00000891097, ENST00000891098, ENST00000891099, ENST00000891100, ENST00000891101, ENST00000958030

RefSeq mRNA: 1 — MANE Select: NM_032315 NM_032315

CCDS: CCDS103

Canonical transcript exons

ENST00000302692 — 7 exons

Exon	Start	End
ENSE00001149679	9579954	9580234
ENSE00001149696	9573346	9573412
ENSE00001149707	9570258	9570358
ENSE00001180822	9567284	9567361
ENSE00001307331	9582299	9585173
ENSE00001312669	9553626	9553805
ENSE00001312767	9539465	9539747

Expression profiles

Bgee: expression breadth ubiquitous, 140 present calls, max score 83.47.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.5142 / max 251.2474, expressed in 1781 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
518	5.9009	1731
519	4.6133	1489

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
putamen	UBERON:0001874	83.47	gold quality
mucosa of transverse colon	UBERON:0004991	83.43	gold quality
caudate nucleus	UBERON:0001873	83.17	gold quality
gastrocnemius	UBERON:0001388	83.14	gold quality
thymus	UBERON:0002370	82.98	silver quality
substantia nigra	UBERON:0002038	82.75	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.73	gold quality
hypothalamus	UBERON:0001898	82.10	gold quality
muscle of leg	UBERON:0001383	81.70	gold quality
hindlimb stylopod muscle	UBERON:0004252	81.12	gold quality
anterior cingulate cortex	UBERON:0009835	80.50	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	80.47	gold quality
spinal cord	UBERON:0002240	80.29	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	80.25	gold quality
prefrontal cortex	UBERON:0000451	80.19	gold quality
islet of Langerhans	UBERON:0000006	79.95	gold quality
Brodmann (1909) area 9	UBERON:0013540	79.95	gold quality
frontal cortex	UBERON:0001870	79.93	gold quality
right frontal lobe	UBERON:0002810	79.93	gold quality
cerebral cortex	UBERON:0000956	79.78	gold quality
amygdala	UBERON:0001876	79.73	gold quality
temporal lobe	UBERON:0001871	79.72	gold quality
nucleus accumbens	UBERON:0001882	79.09	gold quality
primary visual cortex	UBERON:0002436	78.99	gold quality
right testis	UBERON:0004534	78.79	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.69	gold quality
testis	UBERON:0000473	78.60	gold quality
left testis	UBERON:0004533	78.55	gold quality
Ammon’s horn	UBERON:0001954	78.25	gold quality
brain	UBERON:0000955	78.02	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

45 targeting SLC25A33, 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-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-520G-5P	99.99	66.76	658
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-5093	99.67	69.26	2291
HSA-MIR-4804-3P	99.65	67.78	866
HSA-MIR-7152-5P	99.60	69.33	2094
HSA-MIR-4328	99.57	71.06	4094

Literature-anchored findings (GeneRIF, showing 4)

• BMSC-MCP is a phylogenetically conserved and widely expressed mitochondrial carrier protein which perhaps associates with mitochondrial oxidative phosphorylation (PMID:14715278)
• PNC1 is essential for mitochondria maintenance. (PMID:20453889)
• Compares and contrasts all the known human SLC25A* genes and includes functional information. (PMID:23266187)
• The main physiological role of SLC25A33 and SLC25A36 is to import/export pyrimidine nucleotides into and from mitochondria (PMID:25320081)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc25a33	ENSDARG00000039931
mus_musculus	Slc25a33	ENSMUSG00000028982
rattus_norvegicus	Slc25a33	ENSRNOG00000016949

Paralogs (49): SLC25A13 (ENSG00000004864), SLC25A5 (ENSG00000005022), SLC25A39 (ENSG00000013306), SLC25A40 (ENSG00000075303), SLC25A3 (ENSG00000075415), SLC25A43 (ENSG00000077713), SLC25A24 (ENSG00000085491), SLC25A1 (ENSG00000100075), SLC25A17 (ENSG00000100372), SLC25A14 (ENSG00000102078), SLC25A15 (ENSG00000102743), SLC25A11 (ENSG00000108528), UCP1 (ENSG00000109424), SLC25A36 (ENSG00000114120), SLC25A12 (ENSG00000115840), SLC25A2 (ENSG00000120329), SLC25A51 (ENSG00000122696), SLC25A16 (ENSG00000122912), SLC25A35 (ENSG00000125434), SLC25A19 (ENSG00000125454), SLC25A23 (ENSG00000125648), SLC25A47 (ENSG00000140107), SLC25A52 (ENSG00000141437), SLC25A38 (ENSG00000144659), SLC25A26 (ENSG00000144741), SLC25A48 (ENSG00000145832), SLC25A37 (ENSG00000147454), SLC25A25 (ENSG00000148339), SLC25A31 (ENSG00000151475), SLC25A4 (ENSG00000151729), SLC25A27 (ENSG00000153291), SLC25A28 (ENSG00000155287), SLC25A44 (ENSG00000160785), SLC25A45 (ENSG00000162241), SLC25A34 (ENSG00000162461), SLC25A32 (ENSG00000164933), SLC25A6 (ENSG00000169100), SLC25A30 (ENSG00000174032), UCP3 (ENSG00000175564), UCP2 (ENSG00000175567)

Protein

Protein identifiers

Solute carrier family 25 member 33 — Q9BSK2 (reviewed: Q9BSK2)

Alternative names: Bone marrow stromal cell mitochondrial carrier protein, Protein PNC1

All UniProt accessions (1): Q9BSK2

UniProt curated annotations — full annotation on UniProt →

Function. Mitochondrial transporter that imports/exports pyrimidine nucleotides into and from mitochondria. Selectively transports uridine, thymidine, guanosine, cytosine and inosine (deoxy)nucleoside di- and triphosphates by an antiport mechanism. May import (deoxy)nucleoside triphosphates in exchange for intramitochondrial (deoxy)nucleoside diphosphates, thus providing precursors necessary for de novo synthesis of mitochondrial DNA and RNA while exporting products of their catabolism. Participates in mitochondrial genome maintenance, regulation of mitochondrial membrane potential and mitochondrial respiration. Upon INS or IGF1 stimulation regulates cell growth and proliferation by controlling mitochondrial DNA replication and transcription, the ratio of mitochondria-to nuclear-encoded components of the electron transport chain resulting in control of mitochondrial ROS production. Participates in dendritic cell endocytosis and may associate with mitochondrial oxidative phosphorylation.

Subcellular location. Mitochondrion inner membrane.

Tissue specificity. Expressed in the central nervous system. Also expressed in testis and skeletal muscle. Weakly expressed in heart, liver, kidney, prostate, colon and peripheral blood leukocytes.

Activity regulation. Inhibited by pyridoxal 5’-phosphate, 4,7-diphenyl-1,10-phenanthroline, tannic acid, and mercurials (mercury dichloride, mersalyl acid, p-hydroxymercuribenzoate).

Induction. By INS or IGF1 through the PI-3 kinase/mTOR pathway.

Similarity. Belongs to the mitochondrial carrier (TC 2.A.29) family.

RefSeq proteins (1): NP_115691* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR018108	MCP_transmembrane	Repeat
IPR023395	MCP_dom_sf	Homologous_superfamily
IPR049562	SLC25A33/36-like	Family

Pfam: PF00153

Catalyzed reactions (Rhea), 12 shown:

• UTP(in) + UDP(out) = UTP(out) + UDP(in) (RHEA:73515)
• dUTP(out) + UTP(in) = dUTP(in) + UTP(out) (RHEA:73519)
• 5-methyl-UTP(out) + UTP(in) = 5-methyl-UTP(in) + UTP(out) (RHEA:73523)
• 5-methyl-UDP(out) + UTP(in) = 5-methyl-UDP(in) + UTP(out) (RHEA:73527)
• UTP(in) + CTP(out) = UTP(out) + CTP(in) (RHEA:73531)
• CDP(out) + UTP(in) = CDP(in) + UTP(out) (RHEA:73535)
• dCTP(out) + UTP(in) = dCTP(in) + UTP(out) (RHEA:73539)
• dCDP(out) + UTP(in) = dCDP(in) + UTP(out) (RHEA:73543)
• UTP(in) + GTP(out) = UTP(out) + GTP(in) (RHEA:73547)
• UTP(in) + GDP(out) = UTP(out) + GDP(in) (RHEA:73551)
• dGTP(out) + UTP(in) = dGTP(in) + UTP(out) (RHEA:73559)
• dGDP(out) + UTP(in) = dGDP(in) + UTP(out) (RHEA:73563)

UniProt features (11 total): transmembrane region 6, repeat 3, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BSK2-F1	85.41	0.63

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 178 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_GROWTH, GOBP_MITOCHONDRIAL_RESPIRATORY_CHAIN_COMPLEX_ASSEMBLY, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, USF_C, GOBP_NUCLEOTIDE_TRANSPORT, GOBP_CELLULAR_RESPONSE_TO_INSULIN_STIMULUS, GOBP_CYTOCHROME_COMPLEX_ASSEMBLY, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, CTCTAGA_MIR526C_MIR518F_MIR526A, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, GOBP_REGULATION_OF_OXIDATIVE_PHOSPHORYLATION

GO Biological Process (15): regulation of oxidative phosphorylation (GO:0002082), mitochondrial transcription (GO:0006390), mitochondrion organization (GO:0007005), positive regulation of cell population proliferation (GO:0008284), positive regulation of cell growth (GO:0030307), mitochondria-nucleus signaling pathway (GO:0031930), cellular response to insulin stimulus (GO:0032869), mitochondrial respiratory chain complex III assembly (GO:0034551), regulation of reactive oxygen species biosynthetic process (GO:1903426), cellular response to insulin-like growth factor stimulus (GO:1990314), pyrimidine nucleotide import into mitochondrion (GO:1990519), obsolete mitochondrial genome maintenance (GO:0000002), nucleotide transport (GO:0006862), pyrimidine nucleotide transport (GO:0006864), regulation of mitochondrial membrane potential (GO:0051881)

GO Molecular Function (1): pyrimidine nucleotide transmembrane transporter activity (GO:0015218)

GO Cellular Component (4): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial membrane (GO:0031966), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
mitochondrion	3
positive regulation of cellular process	2
cellular response to peptide hormone stimulus	2
pyrimidine nucleotide transport	2
oxidative phosphorylation	1
regulation of aerobic respiration	1
mitochondrial RNA metabolic process	1
DNA-templated transcription	1
mitochondrial gene expression	1
organelle organization	1
cell population proliferation	1
regulation of cell population proliferation	1
regulation of cell growth	1
cell growth	1
positive regulation of growth	1
intracellular signal transduction	1
response to insulin	1
respiratory chain complex III assembly	1
mitochondrial respiratory chain complex assembly	1
regulation of biosynthetic process	1
reactive oxygen species biosynthetic process	1
regulation of reactive oxygen species metabolic process	1
intercellular transport	1
pyrimidine-containing compound transmembrane transport	1
nucleotide transmembrane transport	1
organophosphate ester transport	1
nucleobase-containing compound transport	1
nucleotide transport	1
regulation of membrane potential	1
nucleotide transmembrane transporter activity	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
mitochondrial envelope	1
organelle membrane	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1050 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC25A33	MTCH1	Q9NZJ7	822
SLC25A33	MTCH2	Q9Y6C9	770
SLC25A33	SLC25A52	Q3SY17	568
SLC25A33	SLC25A53	Q5H9E4	540
SLC25A33	LZIC	Q8WZA0	512
SLC25A33	GPR157	Q5UAW9	455
SLC25A33	YME1L1	Q96TA2	444
SLC25A33	RIMS2	Q9UQ26	431
SLC25A33	NMNAT1	Q9HAN9	415
SLC25A33	SLC45A1	Q9Y2W3	415
SLC25A33	TATDN2	Q93075	413
SLC25A33	NKX1-1	Q15270	379
SLC25A33	F6RGN5	F6RGN5	367
SLC25A33	FASTKD2	Q9NYY8	367
SLC25A33	B3GALT5	Q9Y2C3	355

IntAct

42 interactions, top by confidence:

A	B	Type	Score
SDF4	ACAD11	psi-mi:“MI:0914”(association)	0.640
SLC1A1	AGPAT2	psi-mi:“MI:0914”(association)	0.640
HLA-DPA1	TYW5	psi-mi:“MI:0914”(association)	0.530
IL13RA2	METTL15	psi-mi:“MI:0914”(association)	0.530
APLNR	SLC33A1	psi-mi:“MI:0914”(association)	0.530
NPTN	TNPO2	psi-mi:“MI:0914”(association)	0.530
NCEH1	CLGN	psi-mi:“MI:0914”(association)	0.530
CCNJL	HSPA5	psi-mi:“MI:0914”(association)	0.530
SLC25A33	YAE1	psi-mi:“MI:0915”(physical association)	0.370
GLMP	RTL8C	psi-mi:“MI:0914”(association)	0.350
ATAD3A	TMEM223	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
MGARP	BTAF1	psi-mi:“MI:0914”(association)	0.350
CRELD1	TMEM223	psi-mi:“MI:0914”(association)	0.350
SLC18A2	UBXN8	psi-mi:“MI:0914”(association)	0.350
CD79A	TMEM131L	psi-mi:“MI:0914”(association)	0.350
SGCA	TMEM131L	psi-mi:“MI:0914”(association)	0.350
ISLR		psi-mi:“MI:0914”(association)	0.350
SLC1A1	UBXN8	psi-mi:“MI:0914”(association)	0.350
ATP2A3	UBXN8	psi-mi:“MI:0914”(association)	0.350
SLC2A1	SLC33A1	psi-mi:“MI:0914”(association)	0.350
HLA-DRA	MGRN1	psi-mi:“MI:0914”(association)	0.350
TMEM150A	ACSL4	psi-mi:“MI:0914”(association)	0.350
KLK1	CRLF1	psi-mi:“MI:0914”(association)	0.350
CD3D	TAP2	psi-mi:“MI:0914”(association)	0.350
ACTL6B	SLC25A16	psi-mi:“MI:0914”(association)	0.350
CD80	RIMOC1	psi-mi:“MI:0914”(association)	0.350

BioGRID (34): SLC25A33 (Co-fractionation), SLC25A33 (Affinity Capture-MS), SLC25A33 (Affinity Capture-MS), SLC25A33 (Affinity Capture-MS), SLC25A33 (Affinity Capture-MS), SLC25A33 (Affinity Capture-MS), SLC25A33 (Affinity Capture-MS), SLC25A33 (Affinity Capture-MS), SLC25A33 (Affinity Capture-MS), SLC25A33 (Affinity Capture-MS), SLC25A33 (Affinity Capture-MS), SLC25A33 (Affinity Capture-MS), SLC25A33 (Affinity Capture-MS), SLC25A33 (Affinity Capture-MS), SLC25A33 (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2K309, A0A1D6N272, A3KPP4, G3XP90, G3YD89, O13844, P04575, P04633, P12234, P12242, P16036, P33303, Q08DK7, Q0VCH6, Q1LZB3, Q27257, Q29RM1, Q3KQZ1, Q3TZX3, Q505J6, Q58DS3, Q5HZE0, Q5IS35, Q5NVC1, Q5R7W2, Q5SWT3, Q6AYL0, Q6DFK2, Q6P036, Q6P316, Q7K566, Q8BGP6, Q8BL03, Q8BZ09, Q8N8R3, Q8TBP6, Q8VEM8, Q93XM7, Q99JD3, Q9BSK2

Diamond homologs: A0A0G2K309, A0A0U2IR85, A1DI57, A2Q9F0, A2R5A0, A4RF23, A6RAY2, A6RF73, A6SL61, A7ER02, B0G143, F1LX07, F1LZW6, G3YC86, O13660, O22261, O43808, O60029, O70579, O75746, P0C582, P16261, P25083, P27081, P29518, P32089, P38127, P39953, P40556, P40941, P53007, P55851, P90992, P97521, Q08DK7, Q09188, Q0CEN9, Q0II44, Q0UUH1, Q12482

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	38
Likely benign	3
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

1873 predictions. Top by Δscore:

Variant	Effect	Δscore
1:9553620:TTACA:T	acceptor_loss	1.0000
1:9553621:TACA:T	acceptor_loss	1.0000
1:9553622:ACAGG:A	acceptor_loss	1.0000
1:9553623:CAGGT:C	acceptor_loss	1.0000
1:9553624:A:AT	acceptor_loss	1.0000
1:9553625:GGT:G	acceptor_gain	1.0000
1:9553625:GGTGT:G	acceptor_gain	1.0000
1:9553803:GAA:G	donor_gain	1.0000
1:9553806:G:GG	donor_gain	1.0000
1:9567361:GGT:G	donor_loss	1.0000
1:9567362:G:GC	donor_loss	1.0000
1:9567363:T:A	donor_loss	1.0000
1:9573340:TTCCA:T	acceptor_loss	1.0000
1:9573341:TCCAG:T	acceptor_loss	1.0000
1:9573342:CCAGC:C	acceptor_loss	1.0000
1:9573343:CAG:C	acceptor_loss	1.0000
1:9573344:A:AG	acceptor_gain	1.0000
1:9573344:AGCTT:A	acceptor_loss	1.0000
1:9573345:G:GA	acceptor_gain	1.0000
1:9573345:G:T	acceptor_loss	1.0000
1:9573345:GC:G	acceptor_gain	1.0000
1:9573345:GCT:G	acceptor_gain	1.0000
1:9573345:GCTT:G	acceptor_gain	1.0000
1:9573345:GCTTT:G	acceptor_gain	1.0000
1:9573408:CAGAA:C	donor_gain	1.0000
1:9573409:AGAA:A	donor_gain	1.0000
1:9573410:G:GT	donor_gain	1.0000
1:9573410:GAA:G	donor_gain	1.0000
1:9573411:AA:A	donor_gain	1.0000
1:9573412:AG:A	donor_loss	1.0000

AlphaMissense

2051 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:9567324:G:C	G93R	0.998
1:9573388:A:T	K153I	0.998
1:9573394:G:C	R155P	0.998
1:9582308:G:T	R258M	0.998
1:9582317:T:C	L261P	0.998
1:9582443:C:A	A303D	0.998
1:9570260:C:A	A106D	0.997
1:9570268:T:C	F109L	0.997
1:9570269:T:C	F109S	0.997
1:9570270:T:A	F109L	0.997
1:9570270:T:G	F109L	0.997
1:9570347:C:A	A135D	0.997
1:9573389:A:C	K153N	0.997
1:9573389:A:T	K153N	0.997
1:9580036:G:A	G189R	0.997
1:9580036:G:C	G189R	0.997
1:9580046:C:A	A192D	0.997
1:9582308:G:C	R258T	0.997
1:9582320:G:C	R262P	0.997
1:9582403:G:A	G290R	0.997
1:9582403:G:C	G290R	0.997
1:9582404:G:A	G290E	0.997
1:9553643:G:A	G25D	0.996
1:9553677:G:C	K36N	0.996
1:9553677:G:T	K36N	0.996
1:9570259:G:C	A106P	0.996
1:9573403:T:C	L158P	0.996
1:9580037:G:A	G189E	0.996
1:9580190:C:A	A240D	0.996
1:9582314:G:C	R260T	0.996

dbSNP variants (sampled 300 via entrez): RS1000087092 (1:9582165 C>T), RS1000099130 (1:9540788 T>C), RS1000124836 (1:9569193 C>G), RS1000278719 (1:9570699 A>G,T), RS1000292175 (1:9551452 G>A), RS1000320329 (1:9539941 C>A,T), RS1000413744 (1:9546324 A>G), RS1000425272 (1:9568912 C>T), RS1000477915 (1:9575569 C>G), RS1000525467 (1:9564281 G>A), RS1000613387 (1:9545577 A>G), RS1000636974 (1:9557993 A>G), RS1000733238 (1:9558254 A>G), RS1000750633 (1:9551706 C>A,T), RS1000822465 (1:9558711 T>G)

Disease associations

OMIM: gene MIM:610816 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST007096_27	Pulse pressure	4.000000e-10
GCST007099_56	Systolic blood pressure	2.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0005763	pulse pressure measurement
EFO:0006335	systolic blood pressure

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 — Mitochondrial nucleotide transporter subfamily

CTD chemical–gene interactions

34 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	decreases expression, increases expression	3
Aflatoxin B1	affects expression, decreases expression	3
Leflunomide	increases expression	2
Air Pollutants	increases abundance, increases expression, decreases expression	2
Arsenic	increases abundance, increases expression, affects methylation	2
Benzo(a)pyrene	decreases expression	2
Estradiol	affects cotreatment, decreases expression, increases expression	2
Tetrachlorodibenzodioxin	decreases expression	2
Tretinoin	decreases expression	2
Valproic Acid	increases expression	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
GSK-J4	increases expression	1
methylmercuric chloride	increases expression	1
methyleugenol	decreases expression	1
pirinixic acid	affects binding, increases activity, increases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
sodium arsenite	increases abundance, increases expression	1
butyraldehyde	increases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	increases expression	1
K 7174	decreases expression	1
PCI 5002	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Methyl Methanesulfonate	decreases expression	1
N-Nitrosopyrrolidine	decreases expression	1
Plant Oils	increases expression	1
Silicon Dioxide	increases expression	1
Dihydrotestosterone	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Zinc	affects cotreatment, increases expression	1

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D4JX	HCT116-SLC25A33-KO-c25	Cancer cell line	Male
CVCL_D4JY	HCT116-SLC25A33-KO-c7	Cancer cell line	Male
CVCL_TM34	HAP1 SLC25A33 (-) 1	Cancer cell line	Male
CVCL_TM35	HAP1 SLC25A33 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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