SLC25A17

Summary

SLC25A17 (solute carrier family 25 member 17, HGNC:10987) is a protein-coding gene on chromosome 22q13.2, encoding Peroxisomal membrane protein PMP34 (O43808). Peroxisomal transporter for multiple cofactors like coenzyme A (CoA), flavin adenine dinucleotide (FAD), flavin mononucleotide (FMN) and nucleotide adenosine monophosphate (AMP), and to a lesser extent for nicotinamide adenine dinucleotide (NAD(+)), adenosine diphosphate (ADP) a….

This gene encodes a peroxisomal membrane protein that belongs to the family of mitochondrial solute carriers. It is expressed in the liver, and is likely involved in transport. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 10478 — RefSeq curated summary.

At a glance

• GWAS associations: 12
• Clinical variants (ClinVar): 59 total
• Druggable target: yes
• MANE Select transcript: NM_006358

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10987
Approved symbol	SLC25A17
Name	solute carrier family 25 member 17
Location	22q13.2
Locus type	gene with protein product
Status	Approved
Aliases	PMP34
Ensembl gene	ENSG00000100372
Ensembl biotype	protein_coding
OMIM	606795
Entrez	10478

Gene structure

Transcript identifiers

Ensembl transcripts: 27 — 13 protein_coding, 11 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000263255, ENST00000402844, ENST00000412879, ENST00000420970, ENST00000426396, ENST00000427084, ENST00000430221, ENST00000434185, ENST00000434193, ENST00000435456, ENST00000443810, ENST00000447566, ENST00000449676, ENST00000458600, ENST00000478550, ENST00000491545, ENST00000544408, ENST00000899401, ENST00000899402, ENST00000899403, ENST00000899404, ENST00000899405, ENST00000914387, ENST00000914388, ENST00000914389, ENST00000914390, ENST00000914391

RefSeq mRNA: 3 — MANE Select: NM_006358 NM_001282726, NM_001282727, NM_006358

CCDS: CCDS14005, CCDS74868

Canonical transcript exons

ENST00000435456 — 9 exons

Exon	Start	End
ENSE00001715286	40819195	40819346
ENSE00003510561	40792525	40792676
ENSE00003518497	40773937	40774019
ENSE00003585613	40769630	40770981
ENSE00003595134	40779009	40779125
ENSE00003633583	40794514	40794580
ENSE00003641939	40777228	40777373
ENSE00003664472	40799023	40799083
ENSE00003665269	40777040	40777135

Expression profiles

Bgee: expression breadth ubiquitous, 273 present calls, max score 91.16.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.3540 / max 216.6662, expressed in 1797 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
194329	14.8015	1791
194328	3.5525	1431

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left ovary	UBERON:0002119	91.16	gold quality
right ovary	UBERON:0002118	91.05	gold quality
islet of Langerhans	UBERON:0000006	90.83	gold quality
cortical plate	UBERON:0005343	90.45	gold quality
ovary	UBERON:0000992	89.96	gold quality
body of uterus	UBERON:0009853	88.89	gold quality
ganglionic eminence	UBERON:0004023	88.63	gold quality
right adrenal gland cortex	UBERON:0035827	87.56	gold quality
right adrenal gland	UBERON:0001233	87.50	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.36	gold quality
left adrenal gland	UBERON:0001234	87.20	gold quality
ventricular zone	UBERON:0003053	87.12	gold quality
stromal cell of endometrium	CL:0002255	87.00	gold quality
parotid gland	UBERON:0001831	87.00	silver quality
left adrenal gland cortex	UBERON:0035825	86.93	gold quality
adrenal gland	UBERON:0002369	86.56	gold quality
adrenal cortex	UBERON:0001235	86.49	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.05	gold quality
endometrium	UBERON:0001295	85.77	gold quality
pancreas	UBERON:0001264	85.74	gold quality
adrenal tissue	UBERON:0018303	85.73	gold quality
right lobe of liver	UBERON:0001114	85.71	gold quality
amniotic fluid	UBERON:0000173	85.66	gold quality
prefrontal cortex	UBERON:0000451	85.60	gold quality
germinal epithelium of ovary	UBERON:0001304	85.43	gold quality
cerebellar cortex	UBERON:0002129	85.40	gold quality
cerebellar hemisphere	UBERON:0002245	85.36	gold quality
embryo	UBERON:0000922	85.35	gold quality
uterus	UBERON:0000995	85.31	gold quality
right uterine tube	UBERON:0001302	85.18	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-GEOD-100618	no	174.18
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

64 targeting SLC25A17, 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-340-5P	100.00	72.50	4437
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-153-5P	99.89	73.86	6317
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-579-3P	99.86	71.66	3628
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-130B-5P	99.83	68.50	1888
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-323A-3P	99.79	70.30	1739
HSA-MIR-498-5P	99.76	69.64	1807

Literature-anchored findings (GeneRIF, showing 6)

• Results describe the identification of PMP34, a peroxisomal membrane protein belonging to the mitochondrial solute carrier family, as an adenine nucleotide transporter. (PMID:12445829)
• SLC25A17 is a transporter for CoA and FAD, and to a lesser extent NAD (PMID:22185573)
• Compares and contrasts all the known human SLC25A* genes and includes functional information. (PMID:23266187)
• PEX16 mediates the peroxisomal trafficking of two distinct peroxisomal membrane proteins, PEX3 and PMP34, via the endoplasmic reticulum (PMID:25002403)
• Multiomics data analyses to identify SLC25A17 as a novel biomarker to predict the prognosis and immune microenvironment in head and neck squamous cell carcinoma. (PMID:37386359)
• The solute carrier SLC25A17 sustains peroxisomal redox homeostasis in diverse mammalian cell lines. (PMID:38159891)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	slc25a17	ENSDARG00000061684
mus_musculus	Slc25a17	ENSMUSG00000022404
rattus_norvegicus	Slc25a17	ENSRNOG00000076430

Paralogs (49): SLC25A13 (ENSG00000004864), SLC25A5 (ENSG00000005022), SLC25A39 (ENSG00000013306), SLC25A40 (ENSG00000075303), SLC25A3 (ENSG00000075415), SLC25A43 (ENSG00000077713), SLC25A24 (ENSG00000085491), SLC25A1 (ENSG00000100075), 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), SLC25A33 (ENSG00000171612), SLC25A30 (ENSG00000174032), UCP3 (ENSG00000175564), UCP2 (ENSG00000175567)

Protein

Protein identifiers

Peroxisomal membrane protein PMP34 — O43808 (reviewed: O43808)

Alternative names: 34 kDa peroxisomal membrane protein, Solute carrier family 25 member 17

All UniProt accessions (11): O43808, B1AHN4, F2Z2I9, F6RTR7, F8WA85, F8WBA4, F8WCH6, F8WCN9, F8WE74, F8WEC6, F8WF87

UniProt curated annotations — full annotation on UniProt →

Function. Peroxisomal transporter for multiple cofactors like coenzyme A (CoA), flavin adenine dinucleotide (FAD), flavin mononucleotide (FMN) and nucleotide adenosine monophosphate (AMP), and to a lesser extent for nicotinamide adenine dinucleotide (NAD(+)), adenosine diphosphate (ADP) and adenosine 3’,5’-diphosphate (PAP). May catalyze the transport of free CoA, FAD and NAD(+) from the cytosol into the peroxisomal matrix by a counter-exchange mechanism.

Subunit / interactions. Interacts (via N- and C-terminus peroxisomal targeting regions) with PEX19; the interaction occurs with the newly synthesized SLC25A17 in the cytosol.

Subcellular location. Cytoplasm. Peroxisome membrane.

Tissue specificity. Ubiquitous. Expressed in liver.

Activity regulation. Inhibited by pyridoxal 5’-phosphate and bathophenanthroline.

Domain organisation. The N- and C-terminal portions are exposed to the cytoplasm. Lacks a typical peroxisomal sorting signal. A region between helical transmembrane domains (TM) 4 and 5 and TM1-TM3 or TM4-TM6 are necessary for the peroxisome-targeting activity.

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

RefSeq proteins (3): NP_001269655, NP_001269656, NP_006349* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002067	MCP	Family
IPR018108	MCP_transmembrane	Repeat
IPR023395	MCP_dom_sf	Homologous_superfamily
IPR052217	Mito/Peroxisomal_Carrier	Family

Pfam: PF00153

Catalyzed reactions (Rhea), 12 shown:

• AMP(in) + NAD(+)(out) = AMP(out) + NAD(+)(in) (RHEA:65424)
• ADP(out) + CoA(in) = ADP(in) + CoA(out) (RHEA:72839)
• adenosine 3’,5’-bisphosphate(in) + ADP(out) = adenosine 3’,5’-bisphosphate(out) + ADP(in) (RHEA:72847)
• AMP(in) + ADP(out) = AMP(out) + ADP(in) (RHEA:72851)
• FAD(in) + AMP(out) = FAD(out) + AMP(in) (RHEA:73087)
• FMN(in) + AMP(out) = FMN(out) + AMP(in) (RHEA:73091)
• AMP(out) + CoA(in) = AMP(in) + CoA(out) (RHEA:73095)
• 3’-dephospho-CoA(in) + AMP(out) = 3’-dephospho-CoA(out) + AMP(in) (RHEA:73099)
• FAD(in) + CoA(out) = FAD(out) + CoA(in) (RHEA:73143)
• FAD(in) + adenosine 3’,5’-bisphosphate(out) = FAD(out) + adenosine 3’,5’-bisphosphate(in) (RHEA:73147)
• FMN(in) + CoA(out) = FMN(out) + CoA(in) (RHEA:73151)
• FMN(in) + adenosine 3’,5’-bisphosphate(out) = FMN(out) + adenosine 3’,5’-bisphosphate(in) (RHEA:73155)

UniProt features (25 total): topological domain 7, transmembrane region 6, mutagenesis site 4, repeat 3, region of interest 2, chain 1, short sequence motif 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O43808-F1	85.31	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.

Mutagenesis-validated functional residues (4):

Position	Phenotype
190–199	localizes in the cytoplasm.
283–285	impairs interaction with pex19.
289–290	impairs interaction with pex19.
302–303	no effect on interaction with pex19.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-389599	Alpha-oxidation of phytanate
R-HSA-9603798	Class I peroxisomal membrane protein import

MSigDB gene sets: 163 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_UP, GOBP_LIPID_MODIFICATION, GOBP_FATTY_ACID_CATABOLIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_NUCLEOTIDE_TRANSPORT, GOBP_ORGANIC_ACID_TRANSPORT, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS, GOMF_NUCLEOBASE_CONTAINING_COMPOUND_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOBP_NUCLEOTIDE_TRANSMEMBRANE_TRANSPORT, GOBP_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT, GOBP_ORGANIC_ANION_TRANSPORT, GOBP_SULFUR_COMPOUND_TRANSPORT, GOBP_PURINE_NUCLEOTIDE_TRANSPORT, GOBP_LIPID_METABOLIC_PROCESS

GO Biological Process (11): fatty acid alpha-oxidation (GO:0001561), fatty acid beta-oxidation (GO:0006635), ATP transport (GO:0015867), fatty acid transport (GO:0015908), nucleotide transmembrane transport (GO:1901679), ADP transport (GO:0015866), coenzyme A transmembrane transport (GO:0035349), FAD transmembrane transport (GO:0035350), NAD transmembrane transport (GO:0035352), transmembrane transport (GO:0055085), AMP transport (GO:0080121)

GO Molecular Function (11): adenine nucleotide transmembrane transporter activity (GO:0000295), ATP transmembrane transporter activity (GO:0005347), ADP transmembrane transporter activity (GO:0015217), coenzyme A transmembrane transporter activity (GO:0015228), FAD transmembrane transporter activity (GO:0015230), antiporter activity (GO:0015297), FMN transmembrane transporter activity (GO:0044610), protein-folding chaperone binding (GO:0051087), NAD transmembrane transporter activity (GO:0051724), AMP transmembrane transporter activity (GO:0080122), protein binding (GO:0005515)

GO Cellular Component (5): peroxisome (GO:0005777), peroxisomal membrane (GO:0005778), cytosol (GO:0005829), membrane (GO:0016020), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Peroxisomal lipid metabolism	1
Protein localization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
adenine nucleotide transport	4
adenine nucleotide transmembrane transporter activity	4
purine ribonucleotide transport	3
purine ribonucleotide transmembrane transporter activity	3
cellular anatomical structure	3
fatty acid catabolic process	2
fatty acid oxidation	2
purine-containing compound transmembrane transport	2
nucleotide transmembrane transport	2
nucleotide transmembrane transporter activity	2
fatty acid ligase activity	1
lipid transport	1
monocarboxylic acid transport	1
nucleotide transport	1
transmembrane transport	1
coenzyme A transport	1
FAD transport	1
NAD transport	1
transport	1
cellular process	1
purine nucleotide transmembrane transporter activity	1
ATP transport	1
ADP transport	1
organophosphate ester transmembrane transporter activity	1
nucleobase-containing compound transmembrane transporter activity	1
coenzyme A transmembrane transport	1
sulfur compound transmembrane transporter activity	1
FAD transmembrane transport	1
secondary active transmembrane transporter activity	1
carbohydrate derivative transmembrane transporter activity	1
protein binding	1
NAD transmembrane transport	1
AMP transport	1
binding	1
microbody	1
peroxisome	1
microbody membrane	1
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1478 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC25A17	MTCH1	Q9NZJ7	888
SLC25A17	MTCH2	Q9Y6C9	830
SLC25A17	PEX16	Q9Y5Y5	645
SLC25A17	PEX12	O00623	645
SLC25A17	PEX19	P40855	626
SLC25A17	PEX5	P50542	623
SLC25A17	PEX13	Q92968	598
SLC25A17	ABCD3	P28288	595
SLC25A17	SLC25A51	Q9H1U9	568
SLC25A17	PEX3	P56589	546
SLC25A17	PEX11B	O96011	539
SLC25A17	PXMP4	Q9Y6I8	530
SLC25A17	SLC25A53	Q5H9E4	530
SLC25A17	PEX10	O60683	529
SLC25A17	PEX11A	O75192	519

IntAct

80 interactions, top by confidence:

A	B	Type	Score
SLC25A17	PEX19	psi-mi:“MI:0407”(direct interaction)	0.710
SLC25A17	PEX19	psi-mi:“MI:0915”(physical association)	0.710
RANBP6	SLC27A2	psi-mi:“MI:0914”(association)	0.640
VSIG1	TTI1	psi-mi:“MI:0914”(association)	0.640
SLC25A17	MEOX2	psi-mi:“MI:0915”(physical association)	0.560
C3AR1	TMEM120B	psi-mi:“MI:0914”(association)	0.530
NPY2R	RTL8C	psi-mi:“MI:0914”(association)	0.530
SLC39A9	B4GALT5	psi-mi:“MI:0914”(association)	0.530
LRRC8B	SLC25A17	psi-mi:“MI:0914”(association)	0.530
PBXIP1	GOLIM4	psi-mi:“MI:0914”(association)	0.530
VSIG1	TNPO2	psi-mi:“MI:0914”(association)	0.530
SCGB2A2	GXYLT2	psi-mi:“MI:0914”(association)	0.350
TMCO3	POTEF	psi-mi:“MI:0914”(association)	0.350
SLC39A12	POM121C	psi-mi:“MI:0914”(association)	0.350
VIPR1	GPR89A	psi-mi:“MI:0914”(association)	0.350
SLC1A1	TNFRSF10B	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
ARRDC3	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC25A17	ARID4B	psi-mi:“MI:0914”(association)	0.350
IGHM	ESYT2	psi-mi:“MI:0914”(association)	0.350
TTYH1	TMEM223	psi-mi:“MI:0914”(association)	0.350
TSPAN15	TMEM223	psi-mi:“MI:0914”(association)	0.350

BioGRID (95): SLC25A17 (Affinity Capture-RNA), SLC25A17 (Affinity Capture-RNA), SLC25A17 (Affinity Capture-MS), SLC25A17 (Affinity Capture-MS), SLC25A17 (Affinity Capture-MS), SLC25A17 (Affinity Capture-MS), SLC25A17 (Affinity Capture-MS), SLC25A17 (Affinity Capture-MS), SLC25A17 (Proximity Label-MS), SLC25A17 (Affinity Capture-MS), SLC25A17 (Affinity Capture-MS), SLC25A17 (Affinity Capture-MS), SLC25A17 (Affinity Capture-MS), SLC25A17 (Affinity Capture-MS), SLC25A17 (Affinity Capture-MS)

ESM2 similar proteins: A0JN87, A6QR09, F1R4U0, F1RFX9, O22261, O43772, O43808, O70579, O77792, O95258, O97562, O97649, P55851, P55916, P56499, P56501, P70406, P97521, Q08DK4, Q287T7, Q3SZI5, Q4V9P0, Q5R5A8, Q5RD81, Q5RFB7, Q5U680, Q5ZKP7, Q641C8, Q66H23, Q6DG32, Q6GLA2, Q6IZB5, Q70HW3, Q8BMG8, Q8HXY2, Q8R0Z5, Q920G8, Q922G0, Q95J75, Q96A46

Diamond homologs: A0A1D6N272, A1DI57, A2A3V2, A2ASZ8, A2CEQ0, A2R5A0, A3LVX1, A4RF23, A5DIS9, A5DX39, A6RF73, A6SL61, A6ZV78, A7ER02, A7TDX5, B4F8I5, B4FIJ0, B8ZHC9, F4JU70, O04200, O04619, O22261, O43808, O59674, O60029, O70579, O94370, O97649, P04710, P0C546, P10861, P16260, P16261, P25874, P29518, P53257, P55916, Q01888, Q05AQ3, Q08DK7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	46
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1713 predictions. Top by Δscore:

Variant	Effect	Δscore
22:40770977:AACGT:A	acceptor_gain	1.0000
22:40770979:CGT:C	acceptor_gain	1.0000
22:40770980:GT:G	acceptor_gain	1.0000
22:40770981:TCTAA:T	acceptor_loss	1.0000
22:40770982:C:CC	acceptor_gain	1.0000
22:40770982:CTAA:C	acceptor_loss	1.0000
22:40773931:GCTCA:G	donor_loss	1.0000
22:40773932:CTCAC:C	donor_loss	1.0000
22:40773934:CACC:C	donor_loss	1.0000
22:40773935:A:AT	donor_loss	1.0000
22:40773936:CCTTA:C	donor_gain	1.0000
22:40773940:A:AC	donor_gain	1.0000
22:40773941:C:CC	donor_gain	1.0000
22:40774015:CCAAA:C	acceptor_gain	1.0000
22:40774016:CAAA:C	acceptor_gain	1.0000
22:40774016:CAAAC:C	acceptor_gain	1.0000
22:40774017:AAA:A	acceptor_gain	1.0000
22:40774018:AA:A	acceptor_gain	1.0000
22:40774019:AC:A	acceptor_loss	1.0000
22:40774020:C:CA	acceptor_loss	1.0000
22:40774020:C:CC	acceptor_gain	1.0000
22:40777035:CTCA:C	donor_loss	1.0000
22:40777036:TCA:T	donor_loss	1.0000
22:40777038:A:AC	donor_gain	1.0000
22:40777038:AC:A	donor_gain	1.0000
22:40777038:ACC:A	donor_gain	1.0000
22:40777038:ACCCT:A	donor_gain	1.0000
22:40777039:C:CC	donor_gain	1.0000
22:40777039:C:CT	donor_loss	1.0000
22:40777039:CC:C	donor_gain	1.0000

AlphaMissense

1977 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:40770953:C:G	G269R	0.999
22:40792525:C:G	G112R	0.999
22:40792525:C:T	G112R	0.999
22:40792637:A:C	S74R	0.999
22:40792637:A:T	S74R	0.999
22:40792639:T:G	S74R	0.999
22:40799083:C:G	G19R	0.999
22:40799083:C:T	G19R	0.999
22:40777107:C:T	G209D	0.998
22:40779074:A:G	L129P	0.998
22:40779093:A:G	W123R	0.998
22:40779093:A:T	W123R	0.998
22:40779125:C:T	G112E	0.998
22:40792610:G:C	F83L	0.998
22:40792610:G:T	F83L	0.998
22:40792612:A:G	F83L	0.998
22:40799078:G:C	S20R	0.998
22:40799078:G:T	S20R	0.998
22:40799080:T:G	S20R	0.998
22:40799082:C:T	G19E	0.998
22:40819202:C:T	G16E	0.998
22:40819203:C:G	G16R	0.998
22:40819203:C:T	G16R	0.998
22:40770913:G:T	A282D	0.997
22:40770937:A:G	L274P	0.997
22:40770953:C:A	G269C	0.997
22:40777086:G:T	A216D	0.997
22:40777104:G:T	A210E	0.997
22:40777105:C:G	A210P	0.997
22:40777108:C:G	G209R	0.997

dbSNP variants (sampled 300 via entrez): RS1000016799 (22:40776856 G>A,T), RS1000228802 (22:40783375 G>A), RS1000241273 (22:40821121 T>C), RS1000345503 (22:40816171 C>T), RS1000413574 (22:40819408 A>C,G), RS1000462336 (22:40810256 T>C), RS1000475906 (22:40771300 T>C), RS1000477226 (22:40795687 G>A), RS1000573530 (22:40814578 C>T), RS1000703583 (22:40808580 A>G,T), RS1000704962 (22:40816004 T>C), RS1000710762 (22:40794791 T>C), RS1000827927 (22:40795946 C>A,T), RS1000836649 (22:40813631 G>A), RS1000853868 (22:40771488 A>C)

Disease associations

OMIM: gene MIM:606795 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

12 associations (top):

Study	Trait	p-value
GCST004521_42	Autism spectrum disorder or schizophrenia	1.000000e-08
GCST004521_55	Autism spectrum disorder or schizophrenia	9.000000e-09
GCST006396_1	Disrupted circadian rhythm (low relative amplitude of rest-activity cycles)	5.000000e-08
GCST006940_26	Neurociticism	4.000000e-14
GCST006941_1	Irritable mood	6.000000e-09
GCST006948_58	Feeling nervous	3.000000e-08
GCST008103_42	Bipolar disorder	2.000000e-07
GCST008115_35	Bipolar I disorder	3.000000e-07
GCST008526_32	Coffee consumption	5.000000e-08
GCST009150_15	Low density lipoprotein cholesterol levels	3.000000e-12
GCST010002_83	Refractive error	2.000000e-27
GCST012465_41	Bipolar disorder	2.000000e-08

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0007660	neuroticism measurement
EFO:0009594	irritability measurement
EFO:0009597	feeling nervous measurement
EFO:0009963	bipolar I disorder
EFO:0006781	coffee consumption measurement
EFO:0004611	low density lipoprotein cholesterol measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067030 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.44	Kd	3.627	nM	CHEMBL5653589
8.29	ED50	5.175	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149408: Binding affinity to human SLC25A17 incubated for 45 mins by Kinobead based pull down assay	kd	0.0036	uM

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, decreases expression, affects cotreatment	2
Arsenic	affects methylation, affects cotreatment, decreases expression, increases abundance	2
Valproic Acid	affects expression, increases expression	2
Cadmium Chloride	increases abundance, increases expression, decreases expression	2
aristolochic acid I	decreases expression	1
dicrotophos	decreases expression	1
bisphenol A	decreases expression	1
beta-lapachone	increases expression	1
arsenite	increases reaction, affects binding	1
di-n-butylphosphoric acid	affects expression	1
PCI 5002	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	increases methylation	1
Cadmium	increases expression, increases abundance	1
Cisplatin	increases expression	1
Hydrogen Peroxide	affects expression	1
Selenium	decreases expression	1
Zinc	increases expression, affects cotreatment	1
Isotretinoin	decreases expression	1
Acrylamide	increases expression	1
Particulate Matter	decreases expression, increases abundance	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
CHEMBL5652450	Binding	Binding affinity to human SLC25A17 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D4CS	HCT116-SLC25A17-KO-c2	Cancer cell line	Male
CVCL_D4CT	HCT116-SLC25A17-KO-c4	Cancer cell line	Male
CVCL_TM17	HAP1 SLC25A17 (-) 1	Cancer cell line	Male
CVCL_TM18	HAP1 SLC25A17 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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