SFXN1
gene geneOn this page
Also known as FLJ12876SLC56A1
Summary
SFXN1 (sideroflexin 1, HGNC:16085) is a protein-coding gene on chromosome 5q35.2, encoding Sideroflexin-1 (Q9H9B4). Amino acid transporter importing serine, an essential substrate of the mitochondrial branch of the one-carbon pathway, into mitochondria.
Enables L-alanine transmembrane transporter activity and L-serine transmembrane transporter activity. Involved in L-alanine transport; L-serine transport; and serine import into mitochondrion. Located in mitochondrial inner membrane.
Source: NCBI Gene 94081 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 54 total
- Druggable target: yes
- MANE Select transcript:
NM_022754
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16085 |
| Approved symbol | SFXN1 |
| Name | sideroflexin 1 |
| Location | 5q35.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ12876, SLC56A1 |
| Ensembl gene | ENSG00000164466 |
| Ensembl biotype | protein_coding |
| OMIM | 615569 |
| Entrez | 94081 |
Gene structure
Transcript identifiers
Ensembl transcripts: 21 — 13 protein_coding, 5 retained_intron, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000321442, ENST00000421887, ENST00000502393, ENST00000502865, ENST00000506963, ENST00000507017, ENST00000507395, ENST00000507823, ENST00000508290, ENST00000513725, ENST00000515736, ENST00000515791, ENST00000873630, ENST00000873631, ENST00000873632, ENST00000939193, ENST00000939194, ENST00000939195, ENST00000939196, ENST00000948990, ENST00000948991
RefSeq mRNA: 7 — MANE Select: NM_022754
NM_001322977, NM_001322978, NM_001322980, NM_001322981, NM_001322982, NM_001322983, NM_022754
CCDS: CCDS4394
Canonical transcript exons
ENST00000321442 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001305601 | 175526638 | 175529742 |
| ENSE00001516416 | 175478560 | 175478639 |
| ENSE00003485461 | 175513463 | 175513590 |
| ENSE00003521077 | 175492095 | 175492267 |
| ENSE00003535494 | 175521919 | 175521968 |
| ENSE00003568277 | 175512111 | 175512196 |
| ENSE00003578952 | 175516614 | 175516663 |
| ENSE00003620446 | 175522375 | 175522422 |
| ENSE00003639509 | 175511451 | 175511526 |
| ENSE00003691244 | 175509032 | 175509202 |
| ENSE00003785563 | 175510109 | 175510207 |
Expression profiles
Bgee: expression breadth ubiquitous, 281 present calls, max score 96.85.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 42.2753 / max 282.8391, expressed in 1813 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 60355 | 39.1212 | 1806 |
| 60354 | 2.4945 | 1263 |
| 60353 | 0.4753 | 247 |
| 60357 | 0.1287 | 33 |
| 60356 | 0.0556 | 24 |
Top tissues by expression
285 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adrenal tissue | UBERON:0018303 | 96.85 | gold quality |
| amniotic fluid | UBERON:0000173 | 96.03 | gold quality |
| buccal mucosa cell | CL:0002336 | 95.59 | gold quality |
| ventricular zone | UBERON:0003053 | 94.66 | gold quality |
| liver | UBERON:0002107 | 94.15 | gold quality |
| stromal cell of endometrium | CL:0002255 | 93.79 | gold quality |
| right lobe of liver | UBERON:0001114 | 93.70 | gold quality |
| ganglionic eminence | UBERON:0004023 | 93.47 | gold quality |
| nephron tubule | UBERON:0001231 | 93.40 | gold quality |
| endothelial cell | CL:0000115 | 93.33 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 92.93 | gold quality |
| islet of Langerhans | UBERON:0000006 | 92.83 | gold quality |
| cortical plate | UBERON:0005343 | 91.72 | gold quality |
| rectum | UBERON:0001052 | 90.88 | gold quality |
| prefrontal cortex | UBERON:0000451 | 90.82 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 90.14 | gold quality |
| cerebellar cortex | UBERON:0002129 | 90.13 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 90.13 | gold quality |
| tonsil | UBERON:0002372 | 89.97 | gold quality |
| medial globus pallidus | UBERON:0002477 | 89.93 | gold quality |
| lymph node | UBERON:0000029 | 89.82 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 89.81 | gold quality |
| primary visual cortex | UBERON:0002436 | 89.68 | gold quality |
| cerebellum | UBERON:0002037 | 89.67 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 89.56 | gold quality |
| embryo | UBERON:0000922 | 89.28 | gold quality |
| kidney | UBERON:0002113 | 89.26 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 89.06 | gold quality |
| globus pallidus | UBERON:0001875 | 89.03 | gold quality |
| oviduct epithelium | UBERON:0004804 | 89.00 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-88 | yes | 35.85 |
| E-ANND-3 | yes | 7.09 |
| E-HCAD-29 | no | 539.76 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
114 targeting SFXN1, 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-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
Literature-anchored findings (GeneRIF, showing 8)
- SFXN1 functions as a mitochondrial serine transporter in one-carbon metabolism. (PMID:30442778)
- CircSFXN1 regulates the behaviour of trophoblasts and likely mediates preeclampsia. (PMID:32950919)
- The mitochondrial carrier SFXN1 is critical for complex III integrity and cellular metabolism. (PMID:33730581)
- Overexpression of SFXN1 indicates poor prognosis and promotes tumor progression in lung adenocarcinoma. (PMID:35878532)
- Loss of SFXN1 mitigates lipotoxicity and predicts poor outcome in non-viral hepatocellular carcinoma. (PMID:37296228)
- Comprehensive analysis the prognostic and immune characteristics of mitochondrial transport-related gene SFXN1 in lung adenocarcinoma. (PMID:38233752)
- SFXN1-mediated immune cell infiltration and tumorigenesis in lung adenocarcinoma: A potential therapeutic target. (PMID:38537539)
- Sideroflexin-1 promotes progression and sensitivity to lapatinib in triple-negative breast cancer by inhibiting TOLLIP-mediated autophagic degradation of CIP2A. (PMID:38849012)
Cross-species orthologs
9 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | sfxn1 | ENSDARG00000019963 |
| mus_musculus | Sfxn1 | ENSMUSG00000021474 |
| rattus_norvegicus | Sfxn1 | ENSRNOG00000018279 |
| drosophila_melanogaster | Sfxn1-3 | FBGN0037239 |
| caenorhabditis_elegans | WBGENE00007080 | |
| caenorhabditis_elegans | WBGENE00008137 | |
| caenorhabditis_elegans | WBGENE00009513 | |
| caenorhabditis_elegans | WBGENE00011440 | |
| caenorhabditis_elegans | WBGENE00012402 |
Paralogs (4): SFXN3 (ENSG00000107819), SFXN5 (ENSG00000144040), SFXN2 (ENSG00000156398), SFXN4 (ENSG00000183605)
Protein
Protein identifiers
Sideroflexin-1 — Q9H9B4 (reviewed: Q9H9B4)
All UniProt accessions (6): Q9H9B4, D6RAE9, D6RDG7, D6RFI0, H0Y9J5, S4R2X2
UniProt curated annotations — full annotation on UniProt →
Function. Amino acid transporter importing serine, an essential substrate of the mitochondrial branch of the one-carbon pathway, into mitochondria. Mitochondrial serine is then converted to glycine and formate, which exits to the cytosol where it is used to generate the charged folates that serve as one-carbon donors. May also transport other amino acids including alanine and cysteine.
Subcellular location. Mitochondrion inner membrane.
Tissue specificity. Highly expressed in tissues with high one-carbon metabolism activity, such as blood, liver and kidney.
Similarity. Belongs to the sideroflexin family.
RefSeq proteins (7): NP_001309906, NP_001309907, NP_001309909, NP_001309910, NP_001309911, NP_001309912, NP_073591* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004686 | Mtc | Family |
Pfam: PF03820
Catalyzed reactions (Rhea), 3 shown:
- L-cysteine(in) = L-cysteine(out) (RHEA:29655)
- L-serine(in) = L-serine(out) (RHEA:35031)
- L-alanine(in) = L-alanine(out) (RHEA:70719)
UniProt features (17 total): topological domain 6, transmembrane region 5, sequence variant 2, initiator methionine 1, chain 1, modified residue 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H9B4-F1 | 86.74 | 0.37 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 2
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 234 (showing top):
GOBP_MYELOID_CELL_DIFFERENTIATION, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, GOBP_MYELOID_CELL_HOMEOSTASIS, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_TRANSITION_METAL_ION_TRANSPORT, GOBP_ERYTHROCYTE_HOMEOSTASIS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOBP_AMINO_ACID_TRANSMEMBRANE_TRANSPORT, GOBP_IRON_ION_TRANSPORT, GGCNKCCATNK_UNKNOWN, GOBP_MITOCHONDRIAL_TRANSPORT, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_ORGANIC_ACID_TRANSPORT
GO Biological Process (10): one-carbon metabolic process (GO:0006730), iron ion transport (GO:0006826), L-alanine transport (GO:0015808), L-serine transport (GO:0015825), erythrocyte differentiation (GO:0030218), serine import into mitochondrion (GO:0140300), monoatomic ion transport (GO:0006811), amino acid transport (GO:0006865), monoatomic ion transmembrane transport (GO:0034220), transmembrane transport (GO:0055085)
GO Molecular Function (5): monoatomic ion transmembrane transporter activity (GO:0015075), L-alanine transmembrane transporter activity (GO:0015180), L-serine transmembrane transporter activity (GO:0015194), transmembrane transporter activity (GO:0022857), protein binding (GO:0005515)
GO Cellular Component (4): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), membrane (GO:0016020), mitochondrial membrane (GO:0031966)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transport | 3 |
| L-amino acid transport | 2 |
| serine transport | 2 |
| transmembrane transport | 2 |
| L-amino acid transmembrane transporter activity | 2 |
| small molecule metabolic process | 1 |
| transition metal ion transport | 1 |
| alanine transport | 1 |
| myeloid cell differentiation | 1 |
| erythrocyte homeostasis | 1 |
| amino acid transmembrane transport | 1 |
| import into the mitochondrion | 1 |
| carboxylic acid transmembrane transport | 1 |
| monoatomic ion transport | 1 |
| cellular process | 1 |
| transmembrane transporter activity | 1 |
| monoatomic ion transmembrane transport | 1 |
| L-alanine transport | 1 |
| alanine transmembrane transporter activity | 1 |
| L-serine transport | 1 |
| transporter activity | 1 |
| binding | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| organelle inner membrane | 1 |
| mitochondrial membrane | 1 |
| cellular anatomical structure | 1 |
| mitochondrion | 1 |
| mitochondrial envelope | 1 |
| organelle membrane | 1 |
Protein interactions and networks
STRING
1294 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SFXN1 | GJB1 | P08034 | 687 |
| SFXN1 | SLC25A38 | Q96DW6 | 600 |
| SFXN1 | SLC25A32 | Q9H2D1 | 459 |
| SFXN1 | SLC25A39 | Q9BZJ4 | 415 |
| SFXN1 | TIMM29 | Q9BSF4 | 404 |
| SFXN1 | SLC25A37 | Q9NYZ2 | 403 |
| SFXN1 | DYNC1H1 | Q14204 | 400 |
| SFXN1 | AKT1 | P31749 | 394 |
| SFXN1 | SFXN2 | Q96NB2 | 392 |
| SFXN1 | LYRM7 | Q5U5X0 | 388 |
| SFXN1 | LY96 | Q9Y6Y9 | 385 |
| SFXN1 | SFXN3 | Q9BWM7 | 382 |
| SFXN1 | SOCS3 | O14543 | 377 |
| SFXN1 | SHMT2 | P34897 | 375 |
| SFXN1 | TLR4 | O00206 | 374 |
IntAct
195 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NDUFS3 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| SFXN1 | DDI1 | psi-mi:“MI:0915”(physical association) | 0.590 |
| SFXN1 | REEP4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SFXN1 | SLC16A7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| REEP4 | SFXN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PGRMC2 | SFXN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC10A6 | SFXN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SFXN1 | SCN3B | psi-mi:“MI:0915”(physical association) | 0.560 |
| TLCD4 | SFXN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STOM | SFXN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SFXN1 | TMEM14B | psi-mi:“MI:0915”(physical association) | 0.560 |
| SFXN1 | TMX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC16A7 | SFXN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HSD17B13 | SFXN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MMD | SFXN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SFXN1 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| SFXN1 | CIDEB | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC10A1 | SFXN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AQP6 | SFXN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (570): SFXN1 (Affinity Capture-MS), SFXN1 (Affinity Capture-MS), SFXN1 (Affinity Capture-MS), SFXN1 (Affinity Capture-MS), SFXN1 (Affinity Capture-MS), DDI1 (Affinity Capture-MS), SFXN1 (Co-fractionation), SFXN1 (Co-fractionation), SFXN1 (Co-fractionation), SFXN1 (Affinity Capture-MS), SFXN1 (Affinity Capture-MS), SFXN1 (Affinity Capture-MS), SFXN1 (Affinity Capture-MS), SFXN1 (Affinity Capture-MS), SFXN1 (Affinity Capture-MS)
ESM2 similar proteins: A1Z8R8, A5A761, B2LU20, E9QBI7, O13375, O13793, O13899, O14364, O74882, P25710, P32897, P36163, P39952, P40086, P53259, P53311, Q02889, Q10361, Q12029, Q4G2J3, Q4G2J4, Q4HZ95, Q58EK4, Q5E9M8, Q5RD16, Q63965, Q6CFW6, Q6FJJ0, Q6FUG4, Q759E9, Q75F43, Q7S8S5, Q84WG3, Q851X7, Q8IQ70, Q8MKN0, Q8VZ96, Q8VZU9, Q91V61, Q99JR1
Diamond homologs: A5A761, A6QP55, B2LU20, O13793, Q09201, Q12029, Q54NQ9, Q5E9M8, Q5EA43, Q5FC79, Q5RD16, Q63965, Q8CFD0, Q8TD22, Q91V61, Q925N0, Q925N2, Q96NB2, Q99JR1, Q9BWM7, Q9H9B4, Q9JHY2, Q9VN13, Q9VVW3, A8E7G5
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SFXN1 | “up-regulates quantity” | L-serine | relocalization |
Disease & clinical
Clinical variants and AI predictions
ClinVar
54 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 36 |
| Likely benign | 1 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2027 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:175478637:GCG:G | donor_gain | 1.0000 |
| 5:175492082:T:TA | acceptor_gain | 1.0000 |
| 5:175492090:T:A | acceptor_gain | 1.0000 |
| 5:175492090:TGCA:T | acceptor_loss | 1.0000 |
| 5:175492091:GCAGT:G | acceptor_loss | 1.0000 |
| 5:175492092:CAGTC:C | acceptor_loss | 1.0000 |
| 5:175492093:A:AC | acceptor_loss | 1.0000 |
| 5:175492093:A:AG | acceptor_gain | 1.0000 |
| 5:175492093:AGTCC:A | acceptor_gain | 1.0000 |
| 5:175492094:G:GC | acceptor_gain | 1.0000 |
| 5:175492094:GT:G | acceptor_gain | 1.0000 |
| 5:175492094:GTC:G | acceptor_gain | 1.0000 |
| 5:175492094:GTCC:G | acceptor_gain | 1.0000 |
| 5:175492094:GTCCG:G | acceptor_gain | 1.0000 |
| 5:175492264:ACAG:A | donor_loss | 1.0000 |
| 5:175492267:GGTAA:G | donor_loss | 1.0000 |
| 5:175492269:T:A | donor_loss | 1.0000 |
| 5:175509182:T:TA | donor_gain | 1.0000 |
| 5:175509199:ACAG:A | donor_loss | 1.0000 |
| 5:175509200:CAG:C | donor_loss | 1.0000 |
| 5:175509202:GGTA:G | donor_loss | 1.0000 |
| 5:175509203:GT:G | donor_loss | 1.0000 |
| 5:175509204:T:G | donor_loss | 1.0000 |
| 5:175510203:GTCAA:G | donor_gain | 1.0000 |
| 5:175510204:TC:T | donor_gain | 1.0000 |
| 5:175510208:G:GG | donor_gain | 1.0000 |
| 5:175510213:GC:G | donor_gain | 1.0000 |
| 5:175510259:T:TG | donor_gain | 1.0000 |
| 5:175511449:A:AG | acceptor_gain | 1.0000 |
| 5:175511450:G:GG | acceptor_gain | 1.0000 |
AlphaMissense
2120 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:175509167:C:A | N100K | 1.000 |
| 5:175509167:C:G | N100K | 1.000 |
| 5:175510157:T:A | N128K | 1.000 |
| 5:175510157:T:G | N128K | 1.000 |
| 5:175510169:T:A | N132K | 1.000 |
| 5:175510169:T:G | N132K | 1.000 |
| 5:175512176:T:A | N192K | 1.000 |
| 5:175512176:T:G | N192K | 1.000 |
| 5:175513564:G:T | R233M | 1.000 |
| 5:175509139:G:A | G91E | 0.999 |
| 5:175509142:G:C | R92T | 0.999 |
| 5:175509145:T:C | M93T | 0.999 |
| 5:175509181:G:A | G105D | 0.999 |
| 5:175510131:T:A | W120R | 0.999 |
| 5:175510131:T:C | W120R | 0.999 |
| 5:175510137:T:A | W122R | 0.999 |
| 5:175510137:T:C | W122R | 0.999 |
| 5:175510145:C:A | N124K | 0.999 |
| 5:175510145:C:G | N124K | 0.999 |
| 5:175510148:G:C | Q125H | 0.999 |
| 5:175510148:G:T | Q125H | 0.999 |
| 5:175510152:T:C | F127L | 0.999 |
| 5:175510154:C:A | F127L | 0.999 |
| 5:175510154:C:G | F127L | 0.999 |
| 5:175510158:G:C | A129P | 0.999 |
| 5:175510159:C:A | A129D | 0.999 |
| 5:175510165:T:A | V131D | 0.999 |
| 5:175510167:A:G | N132D | 0.999 |
| 5:175510178:C:A | N135K | 0.999 |
| 5:175510178:C:G | N135K | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000008053 (5:175486528 A>G), RS1000037758 (5:175515440 A>C), RS1000095326 (5:175507736 C>T), RS1000127874 (5:175478886 C>T), RS1000130445 (5:175529992 T>C), RS1000137032 (5:175517520 C>A), RS1000177220 (5:175480523 C>A), RS1000182630 (5:175514997 C>T), RS1000187095 (5:175521106 T>A), RS1000196852 (5:175520767 C>T), RS1000256274 (5:175525366 T>C), RS1000380225 (5:175489722 A>G), RS1000452430 (5:175527323 G>A), RS1000585922 (5:175494855 A>T), RS1000587013 (5:175525665 A>G)
Disease associations
OMIM: gene MIM:615569 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003542_45 | Night sleep phenotypes | 5.000000e-06 |
| GCST004863_109 | Mosquito bite size | 2.000000e-07 |
| GCST008163_131 | Height | 8.000000e-06 |
| GCST009391_10 | Metabolite levels | 3.000000e-06 |
| GCST009391_1217 | Metabolite levels | 9.000000e-06 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008378 | mosquito bite reaction size measurement |
| EFO:0007813 | cotinine measurement |
| EFO:0010420 | triacylglycerol 54:2 measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067362 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: transporter — SLC56 Sideroflexins
ChEMBL bioactivities
4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.92 | Kd | 12.02 | nM | CHEMBL5653589 |
| 7.92 | ED50 | 12.02 | nM | CHEMBL5653589 |
| 5.46 | Kd | 3466 | nM | CHEMBL3752910 |
| 5.46 | ED50 | 3466 | nM | CHEMBL3752910 |
PubChem BioAssay actives
2 with measured affinity, of 4 total; 2 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 | 2149390: Binding affinity to human SFXN1 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0120 | uM |
| 4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149390: Binding affinity to human SFXN1 incubated for 45 mins by Kinobead based pull down assay | kd | 3.4662 | uM |
CTD chemical–gene interactions
46 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression, decreases expression, increases abundance | 4 |
| Valproic Acid | decreases expression | 3 |
| bisphenol A | decreases expression, increases expression, increases methylation | 2 |
| arsenite | affects binding, increases reaction, increases methylation | 2 |
| Benzo(a)pyrene | decreases expression, increases methylation | 2 |
| Cyclosporine | affects methylation, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| trichostatin A | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| calfactant | affects cotreatment, decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| bisphenol B | increases expression | 1 |
| abrine | decreases expression | 1 |
| 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | decreases expression, increases response to substance | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Clozapine | affects cotreatment, decreases expression | 1 |
| Copper | affects binding, decreases expression | 1 |
| Coumestrol | decreases expression | 1 |
| Cuprizone | affects cotreatment, decreases expression | 1 |
| Curcumin | decreases expression | 1 |
| Diethylstilbestrol | increases 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 |
|---|---|---|---|
| CHEMBL5652432 | Binding | Binding affinity to human SFXN1 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
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D4H8 | HCT116-SFXN1-KO-c5 | Cancer cell line | Male |
| CVCL_D4H9 | HCT116-SFXN1-KO-c8 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.