SLC25A40

gene
On this page

Also known as MCFP

Summary

SLC25A40 (solute carrier family 25 member 40, HGNC:29680) is a protein-coding gene on chromosome 7q21.12, encoding Mitochondrial glutathione transporter SLC25A40 (Q8TBP6). Probable mitochondrial transporter required for glutathione import into mitochondria.

SLC25A40 belongs to the SLC25 family of mitochondrial carrier proteins (Haitina et al., 2006 [PubMed 16949250]).

Source: NCBI Gene 55972 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 48 total
  • MANE Select transcript: NM_018843

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:29680
Approved symbolSLC25A40
Namesolute carrier family 25 member 40
Location7q21.12
Locus typegene with protein product
StatusApproved
AliasesMCFP
Ensembl geneENSG00000075303
Ensembl biotypeprotein_coding
OMIM610821
Entrez55972

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 17 protein_coding, 4 retained_intron, 3 nonsense_mediated_decay

ENST00000341119, ENST00000429674, ENST00000444363, ENST00000446236, ENST00000470328, ENST00000483810, ENST00000491499, ENST00000496348, ENST00000853625, ENST00000853626, ENST00000853627, ENST00000853628, ENST00000853629, ENST00000853630, ENST00000853631, ENST00000853632, ENST00000853633, ENST00000853634, ENST00000938988, ENST00000967380, ENST00000967381, ENST00000967382, ENST00000967383, ENST00000967384

RefSeq mRNA: 1 — MANE Select: NM_018843 NM_018843

CCDS: CCDS5610

Canonical transcript exons

ENST00000341119 — 12 exons

ExonStartEnd
ENSE000007017918785629287856351
ENSE000007019188784375487843863
ENSE000010166938787609687876360
ENSE000013842448786057287860640
ENSE000019291358783356887836361
ENSE000035147438785420487854310
ENSE000035279168784785387847977
ENSE000035647958783673087836810
ENSE000035717308784988187849948
ENSE000036059728784163387841714
ENSE000036622358784694987847122
ENSE000036799898785863187858751

Expression profiles

Bgee: expression breadth ubiquitous, 257 present calls, max score 92.71.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.6343 / max 140.3126, expressed in 1811 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter IDTPM avgSamples expressed
847369.53641778
847358.95731720
847312.1405941

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
adrenal tissueUBERON:001830392.71gold quality
monocyteCL:000057692.36gold quality
mononuclear cellCL:000084291.77gold quality
leukocyteCL:000073891.43gold quality
epithelium of nasopharynxUBERON:000195189.90gold quality
lateral nuclear group of thalamusUBERON:000273689.30gold quality
endothelial cellCL:000011587.82gold quality
rectumUBERON:000105287.70gold quality
secondary oocyteCL:000065587.09gold quality
trabecular bone tissueUBERON:000248386.68gold quality
ventricular zoneUBERON:000305386.24gold quality
mucosa of sigmoid colonUBERON:000499386.24gold quality
prefrontal cortexUBERON:000045185.44gold quality
skin of hipUBERON:000155485.43gold quality
bone marrowUBERON:000237185.32gold quality
postcentral gyrusUBERON:000258185.30gold quality
colonic mucosaUBERON:000031785.10gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099184.83gold quality
left ovaryUBERON:000211984.55gold quality
heart right ventricleUBERON:000208084.45silver quality
right ovaryUBERON:000211884.27gold quality
ganglionic eminenceUBERON:000402384.15gold quality
endometriumUBERON:000129584.13gold quality
right adrenal gland cortexUBERON:003582783.86gold quality
superior frontal gyrusUBERON:000266183.75gold quality
bloodUBERON:000017883.62gold quality
lymph nodeUBERON:000002983.49gold quality
tibial nerveUBERON:000132383.47gold quality
right adrenal glandUBERON:000123383.43gold quality
cortical plateUBERON:000534383.43gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

ExperimentMarker?Max mean expression
E-MTAB-6142no65.77
E-ANND-3no4.72

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

114 targeting SLC25A40, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-1277-5P100.0073.955056
HSA-MIR-450A-1-3P100.0069.331837
HSA-MIR-3163100.0077.238605
HSA-MIR-30A-5P100.0076.313233
HSA-MIR-30B-5P100.0076.293248
HSA-MIR-30C-5P100.0076.293248
HSA-MIR-30D-5P100.0076.323233
HSA-MIR-30E-5P100.0076.323242
HSA-LET-7A-3P100.0074.033932
HSA-LET-7B-3P100.0074.083913
HSA-LET-7F-1-3P100.0074.023928
HSA-MIR-98-3P100.0074.083907
HSA-MIR-9-5P100.0072.282361
HSA-MIR-428299.9975.366408
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-450099.9972.722367
HSA-MIR-548P99.9872.253784
HSA-MIR-551B-5P99.9671.283493
HSA-MIR-23A-3P99.9574.243163
HSA-MIR-23B-3P99.9574.243163
HSA-MIR-23C99.9573.923192
HSA-MIR-651-3P99.9473.485177
HSA-MIR-10523-5P99.9169.222038
HSA-MIR-568099.9169.833421
HSA-MIR-806399.9169.763146
HSA-MIR-95-5P99.8972.173973
HSA-MIR-449699.8868.892236
HSA-MIR-391999.8769.452489

Literature-anchored findings (GeneRIF, showing 3)

  • Compares and contrasts all the known human SLC25A* genes and includes functional information. (PMID:23266187)
  • Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia. (PMID:24268658)
  • SLC25A40 Facilitates Anticancer Drug Resistance in Human Leukemia K562 Cells. (PMID:37407483)

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusSlc25a40ENSMUSG00000054099
rattus_norvegicusSlc25a40ENSRNOG00000022837

Paralogs (49): SLC25A13 (ENSG00000004864), SLC25A5 (ENSG00000005022), SLC25A39 (ENSG00000013306), 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), SLC25A33 (ENSG00000171612), SLC25A30 (ENSG00000174032), UCP3 (ENSG00000175564), UCP2 (ENSG00000175567)

Protein

Protein identifiers

Mitochondrial glutathione transporter SLC25A40Q8TBP6 (reviewed: Q8TBP6)

Alternative names: Mitochondrial carrier family protein, Solute carrier family 25 member 40

All UniProt accessions (3): Q8TBP6, F2Z3Q4, F8WEL8

UniProt curated annotations — full annotation on UniProt →

Function. Probable mitochondrial transporter required for glutathione import into mitochondria. Glutathione, which plays key roles in oxidative metabolism, is produced exclusively in the cytosol and is imported in many organelles. Mitochondrial glutathione is required for the activity and stability of proteins containing iron-sulfur clusters, as well as erythropoiesis.

Subcellular location. Mitochondrion inner membrane.

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

RefSeq proteins (1): NP_061331* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR002067MCPFamily
IPR018108MCP_transmembraneRepeat
IPR023395MCP_dom_sfHomologous_superfamily
IPR045315Mtm1-likeFamily

Pfam: PF00153

Catalyzed reactions (Rhea), 1 shown:

  • glutathione(in) = glutathione(out) (RHEA:74819)

UniProt features (15 total): transmembrane region 6, sequence variant 3, repeat 3, sequence conflict 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q8TBP6-F178.210.33

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 146 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, WANG_CLIM2_TARGETS_UP, GOBP_MYELOID_CELL_HOMEOSTASIS, YAGI_AML_WITH_INV_16_TRANSLOCATION, GOBP_MYELOID_CELL_DEVELOPMENT, GOBP_MODIFIED_AMINO_ACID_TRANSPORT, GOBP_ERYTHROCYTE_HOMEOSTASIS, GOBP_MITOCHONDRIAL_TRANSPORT, GOBP_MITOCHONDRIAL_TRANSMEMBRANE_TRANSPORT, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_ORGANIC_ANION_TRANSPORT, GOBP_SULFUR_COMPOUND_TRANSPORT, GOCC_MITOCHONDRIAL_ENVELOPE, DODD_NASOPHARYNGEAL_CARCINOMA_UP, HNF1_C

GO Biological Process (5): erythrocyte development (GO:0048821), import into the mitochondrion (GO:0170036), glutathione transmembrane transport (GO:0034775), transmembrane transport (GO:0055085), mitochondrial transmembrane transport (GO:1990542)

GO Molecular Function (2): glutathione transmembrane transporter activity (GO:0034634), protein binding (GO:0005515)

GO Cellular Component (3): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
erythrocyte differentiation1
myeloid cell development1
intercellular transport1
mitochondrial transmembrane transport1
glutathione transport1
tripeptide transmembrane transport1
transport1
cellular process1
mitochondrial transport1
transmembrane transport1
glutathione transmembrane transport1
tripeptide transmembrane transporter activity1
modified amino acid transmembrane transporter activity1
sulfur compound transmembrane transporter activity1
binding1
cytoplasm1
intracellular membrane-bounded organelle1
organelle inner membrane1
mitochondrial membrane1
cellular anatomical structure1

Protein interactions and networks

STRING

766 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
SLC25A40RUNDC3BQ96NL0662
SLC25A40WDR44Q5JSH3541
SLC25A40TMEM243Q9BU79500
SLC25A40A0A087WVV2A0A087WVV2456
SLC25A40SLC6A6P31641445
SLC25A40CROTQ9UKG9443
SLC25A40SEC61GP38384424
SLC25A40DLGAP3O95886405
SLC25A40FABP5Q01469392
SLC25A40ADAM22Q9P0K1379
SLC25A40ABCB1P08183366
SLC25A40DMTF1Q9Y222358
SLC25A40CNOT4O95628334
SLC25A40SLC25A53Q5H9E4332
SLC25A40FXYD3Q14802329

IntAct

49 interactions, top by confidence:

ABTypeScore
CFTRESYT2psi-mi:“MI:0914”(association)0.710
NME3NME4psi-mi:“MI:0914”(association)0.640
FAM174ABLTP3Bpsi-mi:“MI:0914”(association)0.530
TNFSF8LGALS8psi-mi:“MI:0914”(association)0.530
APLNRSLC33A1psi-mi:“MI:0914”(association)0.530
TMEM184ASLC33A1psi-mi:“MI:0914”(association)0.530
SLC25A40COL1A1psi-mi:“MI:0915”(physical association)0.500
ESR1ESYT2psi-mi:“MI:0914”(association)0.350
SH2D3CTMEM14DPpsi-mi:“MI:0914”(association)0.350
Mpsi-mi:“MI:0914”(association)0.350
ATG16L1ESYT2psi-mi:“MI:0914”(association)0.350
ATG16L1psi-mi:“MI:0914”(association)0.350
MGARPBTAF1psi-mi:“MI:0914”(association)0.350
RAMP2GXYLT2psi-mi:“MI:0914”(association)0.350
SLC25A40POTEFpsi-mi:“MI:0914”(association)0.350
SLC22A4RTL8Cpsi-mi:“MI:0914”(association)0.350
FFAR1SLC12A8psi-mi:“MI:0914”(association)0.350
GPR182SLC12A8psi-mi:“MI:0914”(association)0.350
GP9ESYT2psi-mi:“MI:0914”(association)0.350
GPR45VWA8psi-mi:“MI:0914”(association)0.350
ASPHPOTEFpsi-mi:“MI:0914”(association)0.350
OPALINFAM171A2psi-mi:“MI:0914”(association)0.350
MFSD4AUBXN8psi-mi:“MI:0914”(association)0.350
SLC1A1UBXN8psi-mi:“MI:0914”(association)0.350
AQP3UBXN8psi-mi:“MI:0914”(association)0.350
NAAAHAX1psi-mi:“MI:0914”(association)0.350
VIPR1SLC33A1psi-mi:“MI:0914”(association)0.350
GPBAR1SLC33A1psi-mi:“MI:0914”(association)0.350
BSGTNPO2psi-mi:“MI:0914”(association)0.350

BioGRID (53): SLC25A40 (Affinity Capture-MS), SLC25A40 (Affinity Capture-MS), SLC25A40 (Affinity Capture-MS), SLC25A40 (Affinity Capture-MS), SLC25A40 (Proximity Label-MS), SLC25A40 (Proximity Label-MS), SLC25A40 (Proximity Label-MS), SLC25A40 (Proximity Label-MS), SLC25A40 (Proximity Label-MS), CHDH (Affinity Capture-MS), SLC25A40 (Affinity Capture-MS), SLC25A40 (Affinity Capture-MS), COL1A1 (Affinity Capture-MS), IST1 (Affinity Capture-MS), POTEF (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: A0A1D6N272, A1DI57, A2A3V2, A2ASZ8, A2R5A0, A3LVX1, A4RF23, A5DIS9, A5DX39, A6RF73, A6SL61, A6ZV78, A7ER02, A7TDX5, B4FIJ0, K7VYZ9, O04619, O22261, O65023, O94370, P10861, P14271, P25874, P29518, P53257, P56500, P70406, Q05AQ3, Q08DK7, Q0CEN9, Q0UUH1, Q0V7M4, Q12251, Q1E7P0, Q1ECW7, Q29RM1, Q2HFL6, Q2UCW8, Q3SZK0, Q3ZBJ8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance31
Likely benign5
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2603 predictions. Top by Δscore:

VariantEffectΔscore
7:87846943:TCCTA:Tdonor_loss1.0000
7:87846944:CCTA:Cdonor_loss1.0000
7:87846945:CTA:Cdonor_loss1.0000
7:87846946:TACCT:Tdonor_loss1.0000
7:87846947:A:Tdonor_loss1.0000
7:87846948:CCT:Cdonor_loss1.0000
7:87847024:T:Adonor_gain1.0000
7:87847119:CCAA:Cacceptor_gain1.0000
7:87847120:CAA:Cacceptor_gain1.0000
7:87847120:CAAC:Cacceptor_gain1.0000
7:87847123:C:CCacceptor_gain1.0000
7:87847126:A:ACacceptor_gain1.0000
7:87847133:CAAG:Cacceptor_gain1.0000
7:87847134:A:Tacceptor_gain1.0000
7:87847137:T:Cacceptor_gain1.0000
7:87847137:T:TCacceptor_gain1.0000
7:87847846:TAC:Tdonor_loss1.0000
7:87847847:A:ACdonor_gain1.0000
7:87847847:ACT:Adonor_loss1.0000
7:87847848:C:CCdonor_gain1.0000
7:87847848:C:Gdonor_loss1.0000
7:87847849:TCA:Tdonor_loss1.0000
7:87847851:A:ACdonor_gain1.0000
7:87847851:ACAT:Adonor_gain1.0000
7:87847852:C:CGdonor_gain1.0000
7:87847852:CA:Cdonor_gain1.0000
7:87847852:CAT:Cdonor_gain1.0000
7:87847852:CATC:Cdonor_gain1.0000
7:87847852:CATCT:Cdonor_gain1.0000
7:87847973:TCACT:Tacceptor_gain1.0000

AlphaMissense

2204 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
7:87836309:A:CS319R0.997
7:87836309:A:TS319R0.997
7:87836311:T:GS319R0.997
7:87836322:G:TA315D0.996
7:87847100:A:CS160R0.996
7:87847100:A:TS160R0.996
7:87847102:T:GS160R0.996
7:87841710:G:TA249D0.995
7:87847858:G:TA151D0.995
7:87846953:G:CF209L0.994
7:87846953:G:TF209L0.994
7:87846955:A:GF209L0.994
7:87843758:C:TG246D0.993
7:87846964:C:GD206H0.993
7:87849893:A:GL107P0.993
7:87849903:A:GW104R0.993
7:87849903:A:TW104R0.993
7:87841676:T:AK260N0.992
7:87841676:T:GK260N0.992
7:87841708:C:GA250P0.992
7:87849881:A:GL111P0.992
7:87858654:C:TG25E0.992
7:87836339:T:AK309N0.991
7:87836339:T:GK309N0.991
7:87846966:C:AR205I0.991
7:87856329:T:AK40N0.991
7:87856329:T:GK40N0.991
7:87858655:C:GG25R0.991
7:87858655:C:TG25R0.991
7:87836323:C:GA315P0.990

dbSNP variants (sampled 300 via entrez): RS1000021832 (7:87867704 G>A), RS1000090361 (7:87856550 G>A), RS1000161306 (7:87836325 C>G), RS1000161466 (7:87862369 G>A,T), RS1000203144 (7:87876477 C>T), RS1000219830 (7:87867972 C>G,T), RS1000324195 (7:87842910 T>C,G), RS1000377523 (7:87850047 T>G), RS1000395005 (7:87855716 T>C), RS1000425727 (7:87855407 C>A), RS1000438632 (7:87843330 T>TA), RS1000616551 (7:87836033 G>A,C), RS1000723832 (7:87865914 T>C), RS1000896219 (7:87850637 G>A), RS1000898149 (7:87863649 G>A,C)

Disease associations

OMIM: gene MIM:610821 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

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 — SLC25 mitochondrial vitamin and co-factor carriers subfamily

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

ChemicalActions (top 5)PubMed papers
sodium arsenitedecreases expression, affects cotreatment, increases abundance2
glycidyl methacrylatedecreases expression1
quercitrindecreases expression1
cobaltous chloridedecreases expression1
manganese chlorideaffects cotreatment, decreases expression, increases abundance1
abrinedecreases expression1
Zoledronic Acidincreases expression1
Acetaminophenincreases expression1
Air Pollutantsdecreases expression, increases abundance1
Arsenicaffects cotreatment, decreases expression, increases abundance1
Atrazineincreases expression1
Benzo(a)pyrenedecreases methylation1
Doxorubicindecreases expression1
Hydrogen Peroxideaffects expression1
Ivermectindecreases expression1
Manganeseaffects cotreatment, decreases expression, increases abundance1
Methyl Methanesulfonateincreases expression1
Rifampindecreases expression1
Silicon Dioxidedecreases expression1
Tretinoinincreases expression1
Valproic Aciddecreases methylation, increases expression1
Aflatoxin B1decreases methylation1
Sodium Selenitedecreases expression1
Copper Sulfatedecreases expression1
Particulate Matterdecreases expression, increases abundance1

Cellosaurus cell lines

7 cell lines: 6 cancer cell line, 1 transformed cell line

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

CellosaurusNameCategorySex
CVCL_B2FRAbcam HeLa SLC25A40 KOCancer cell lineFemale
CVCL_B3HAAbcam HEK293T SLC25A40 KOTransformed cell lineFemale
CVCL_D4K9HCT116-SLC25A40-KO-c3Cancer cell lineMale
CVCL_D4KAHCT116-SLC25A40-KO-c8Cancer cell lineMale
CVCL_TM46HAP1 SLC25A40 (-) 1Cancer cell lineMale
CVCL_TM47HAP1 SLC25A40 (-) 2Cancer cell lineMale
CVCL_TM48HAP1 SLC25A40 (-) 3Cancer cell lineMale

Clinical trials (associated diseases)

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

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.