NFXL1
gene geneOn this page
Also known as HOZFP
Summary
NFXL1 (nuclear transcription factor, X-box binding like 1, HGNC:18726) is a protein-coding gene on chromosome 4p12, encoding NF-X1-type zinc finger protein NFXL1 (Q6ZNB6).
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of DNA-templated transcription. Located in membrane.
Source: NCBI Gene 152518 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 72 total
- Druggable target: yes
- MANE Select transcript:
NM_001278624
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18726 |
| Approved symbol | NFXL1 |
| Name | nuclear transcription factor, X-box binding like 1 |
| Location | 4p12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HOZFP |
| Ensembl gene | ENSG00000170448 |
| Ensembl biotype | protein_coding |
| OMIM | 620488 |
| Entrez | 152518 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 6 protein_coding, 4 retained_intron, 1 nonsense_mediated_decay
ENST00000329043, ENST00000381538, ENST00000464756, ENST00000502448, ENST00000507131, ENST00000507489, ENST00000508115, ENST00000511452, ENST00000906325, ENST00000927224, ENST00000927225
RefSeq mRNA: 3 — MANE Select: NM_001278624
NM_001278623, NM_001278624, NM_152995
CCDS: CCDS3478
Canonical transcript exons
ENST00000507489 — 23 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002029364 | 47914365 | 47914583 |
| ENSE00003459175 | 47851095 | 47851148 |
| ENSE00003477579 | 47878525 | 47878665 |
| ENSE00003495571 | 47862846 | 47862915 |
| ENSE00003498340 | 47885498 | 47885657 |
| ENSE00003501264 | 47913969 | 47914205 |
| ENSE00003502489 | 47851856 | 47851942 |
| ENSE00003506795 | 47898757 | 47898857 |
| ENSE00003515939 | 47879096 | 47879117 |
| ENSE00003516958 | 47905237 | 47905346 |
| ENSE00003557132 | 47903193 | 47903323 |
| ENSE00003559443 | 47890613 | 47890703 |
| ENSE00003559777 | 47855059 | 47855163 |
| ENSE00003564327 | 47898959 | 47899120 |
| ENSE00003587070 | 47875127 | 47875293 |
| ENSE00003589130 | 47884346 | 47884437 |
| ENSE00003618586 | 47894180 | 47894302 |
| ENSE00003636057 | 47899370 | 47899548 |
| ENSE00003644841 | 47896523 | 47896647 |
| ENSE00003647644 | 47897967 | 47898081 |
| ENSE00003648993 | 47885879 | 47885999 |
| ENSE00003657537 | 47847240 | 47848336 |
| ENSE00003689644 | 47910824 | 47910994 |
Expression profiles
Bgee: expression breadth ubiquitous, 241 present calls, max score 97.87.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.3563 / max 186.3378, expressed in 1766 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 52046 | 7.8458 | 1698 |
| 52045 | 2.6720 | 1307 |
| 52047 | 2.4210 | 1188 |
| 52043 | 0.1627 | 45 |
| 52044 | 0.1450 | 47 |
| 52042 | 0.1098 | 33 |
Top tissues by expression
248 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 97.87 | gold quality |
| oocyte | CL:0000023 | 95.55 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 93.38 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 92.91 | gold quality |
| sperm | CL:0000019 | 88.66 | gold quality |
| corpus epididymis | UBERON:0004359 | 87.75 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 86.94 | gold quality |
| calcaneal tendon | UBERON:0003701 | 86.46 | gold quality |
| cartilage tissue | UBERON:0002418 | 86.31 | gold quality |
| ventricular zone | UBERON:0003053 | 85.04 | gold quality |
| body of pancreas | UBERON:0001150 | 84.71 | gold quality |
| testis | UBERON:0000473 | 84.14 | gold quality |
| left testis | UBERON:0004533 | 83.73 | gold quality |
| endothelial cell | CL:0000115 | 83.62 | silver quality |
| right testis | UBERON:0004534 | 83.50 | gold quality |
| bone marrow cell | CL:0002092 | 83.05 | gold quality |
| pancreas | UBERON:0001264 | 82.87 | gold quality |
| endometrium | UBERON:0001295 | 82.81 | gold quality |
| right lobe of liver | UBERON:0001114 | 82.73 | gold quality |
| caput epididymis | UBERON:0004358 | 82.58 | gold quality |
| colonic epithelium | UBERON:0000397 | 81.98 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 81.81 | gold quality |
| oviduct epithelium | UBERON:0004804 | 81.77 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 81.57 | gold quality |
| thyroid gland | UBERON:0002046 | 81.55 | gold quality |
| right uterine tube | UBERON:0001302 | 81.30 | gold quality |
| tendon | UBERON:0000043 | 81.28 | gold quality |
| endocervix | UBERON:0000458 | 81.14 | gold quality |
| pancreatic ductal cell | CL:0002079 | 81.02 | silver quality |
| body of uterus | UBERON:0009853 | 81.02 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.10 |
| E-ENAD-17 | no | 247.30 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
49 targeting NFXL1, 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-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-6835-3P | 99.93 | 70.49 | 2904 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-576-5P | 99.84 | 70.46 | 2582 |
| HSA-MIR-1323 | 99.83 | 69.89 | 2471 |
| HSA-MIR-548AZ-5P | 99.83 | 69.94 | 3230 |
| HSA-MIR-548T-5P | 99.83 | 69.91 | 3220 |
| HSA-MIR-944 | 99.82 | 70.85 | 3042 |
| HSA-MIR-5002-5P | 99.76 | 70.84 | 1763 |
| HSA-MIR-548O-3P | 99.74 | 69.30 | 2228 |
| HSA-MIR-4428 | 99.73 | 66.41 | 1733 |
| HSA-MIR-488-3P | 99.61 | 68.79 | 1731 |
Literature-anchored findings (GeneRIF, showing 1)
- We conclude that coding variants within NFXL1 confer an increased risk of Specific Language Impairment within a complex genetic model (PMID:25781923)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | nfxl1 | ENSDARG00000070127 |
| mus_musculus | Nfxl1 | ENSMUSG00000072889 |
| rattus_norvegicus | Nfxl1 | ENSRNOG00000058588 |
| drosophila_melanogaster | CG15011 | FBGN0035518 |
Paralogs (1): NFX1 (ENSG00000086102)
Protein
Protein identifiers
NF-X1-type zinc finger protein NFXL1 — Q6ZNB6 (reviewed: Q6ZNB6)
Alternative names: Ovarian zinc finger protein
All UniProt accessions (1): Q6ZNB6
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Membrane.
Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Similarity. Belongs to the NFX1 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6ZNB6-1 | 1 | yes |
| Q6ZNB6-2 | 2 |
RefSeq proteins (3): NP_001265552, NP_001265553, NP_694540 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000967 | Znf_NFX1 | Domain |
| IPR001841 | Znf_RING | Domain |
| IPR034078 | NFX1_fam | Family |
Pfam: PF01422
UniProt features (26 total): zinc finger region 11, modified residue 6, splice variant 2, chain 1, transmembrane region 1, region of interest 1, coiled-coil region 1, compositionally biased region 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6ZNB6-F1 | 74.40 | 0.07 |
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 (6): 50, 65, 106, 107, 108, 109
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 120 (showing top):
RRAGTTGT_UNKNOWN, GCAAGGA_MIR502, chr4p12, FOSTER_TOLERANT_MACROPHAGE_UP, ATGTCAC_MIR489, ACTWSNACTNY_UNKNOWN, CTGAGCC_MIR24, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, CHICAS_RB1_TARGETS_GROWING, SNACANNNYSYAGA_UNKNOWN, MTOR_UP.V1_DN, STK33_SKM_UP, STK33_UP, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, E2F5_TARGET_GENES
GO Biological Process (2): regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357)
GO Molecular Function (5): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), zinc ion binding (GO:0008270), DNA-binding transcription factor activity (GO:0003700), metal ion binding (GO:0046872)
GO Cellular Component (3): chromatin (GO:0000785), nucleus (GO:0005634), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of DNA-templated transcription | 2 |
| transcription cis-regulatory region binding | 2 |
| cellular anatomical structure | 2 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| transcription by RNA polymerase II | 1 |
| chromatin | 1 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 1 |
| DNA-binding transcription factor activity | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| transition metal ion binding | 1 |
| transcription regulator activity | 1 |
| cation binding | 1 |
| chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1273 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NFXL1 | ATP2C2 | O75185 | 690 |
| NFXL1 | CMIP | Q8IY22 | 649 |
| NFXL1 | DNAAF4 | Q8WXU2 | 578 |
| NFXL1 | KIAA0319 | Q5VV43 | 571 |
| NFXL1 | DCDC2 | Q9UHG0 | 563 |
| NFXL1 | CNTNAP2 | Q9UHC6 | 561 |
| NFXL1 | ROBO2 | Q9HCK4 | 508 |
| NFXL1 | SLAIN2 | Q9P270 | 496 |
| NFXL1 | CNGA1 | P29973 | 494 |
| NFXL1 | OCIAD1 | Q9NX40 | 471 |
| NFXL1 | ROBO1 | Q9Y6N7 | 459 |
| NFXL1 | NIPAL1 | Q6NVV3 | 447 |
| NFXL1 | SLC10A4 | Q96EP9 | 433 |
| NFXL1 | LRRC66 | Q68CR7 | 418 |
| NFXL1 | ZNF451 | Q9Y4E5 | 416 |
IntAct
93 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TUBA1C | TXNDC9 | psi-mi:“MI:0914”(association) | 0.730 |
| KLK5 | DENND11 | psi-mi:“MI:0914”(association) | 0.640 |
| SLC1A1 | AGPAT2 | psi-mi:“MI:0914”(association) | 0.640 |
| EGFR | NDUFA4 | psi-mi:“MI:0914”(association) | 0.530 |
| RPN1 | APBB1 | psi-mi:“MI:0914”(association) | 0.530 |
| TUBB3 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| TUBA4A | PLD2 | psi-mi:“MI:0914”(association) | 0.530 |
| NCEH1 | CLGN | psi-mi:“MI:0914”(association) | 0.530 |
| GALNS | CLGN | psi-mi:“MI:0914”(association) | 0.530 |
| TUBA1A | TUBAL3 | psi-mi:“MI:0914”(association) | 0.420 |
| NFXL1 | TOMM20 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NFXL1 | TPR | psi-mi:“MI:0915”(physical association) | 0.400 |
| FOXL1 | IFRD1 | psi-mi:“MI:0914”(association) | 0.350 |
| RIPK4 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| HSCB | RBP5 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC16A11 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| NTRK1 | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| NTRK3 | ILVBL | psi-mi:“MI:0914”(association) | 0.350 |
| GRHL1 | POLRMT | psi-mi:“MI:0914”(association) | 0.350 |
| CANX | HLA-A | psi-mi:“MI:0914”(association) | 0.350 |
| DDOST | ATL3 | psi-mi:“MI:0914”(association) | 0.350 |
| CCDC47 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| OST4 | ATL3 | psi-mi:“MI:0914”(association) | 0.350 |
| RPN2 | APBB1 | psi-mi:“MI:0914”(association) | 0.350 |
| MGARP | BTAF1 | psi-mi:“MI:0914”(association) | 0.350 |
| GLMP | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| FFAR1 | SLC12A8 | psi-mi:“MI:0914”(association) | 0.350 |
| GPR182 | SLC12A8 | psi-mi:“MI:0914”(association) | 0.350 |
| RCCD1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (152): NFXL1 (Affinity Capture-MS), NFXL1 (Affinity Capture-MS), NFXL1 (Affinity Capture-MS), NFXL1 (Reconstituted Complex), NFXL1 (Affinity Capture-MS), NFXL1 (Affinity Capture-MS), NFXL1 (Affinity Capture-MS), NFXL1 (Affinity Capture-MS), NFXL1 (Affinity Capture-MS), NFXL1 (Affinity Capture-MS), NFXL1 (Proximity Label-MS), NFXL1 (Affinity Capture-MS), NFXL1 (Affinity Capture-RNA), NFXL1 (Affinity Capture-MS), NFXL1 (Affinity Capture-MS)
ESM2 similar proteins: A0JMY5, A2YEZ6, A3BDI8, A6QLA0, A9YUB1, B1AY10, D4A4T9, E0X9N4, O74853, P40798, P47226, P53971, Q09YN8, Q0D5B9, Q108U9, Q12986, Q15326, Q17QE2, Q18034, Q29RL2, Q2IBC3, Q2LAP6, Q2QLA1, Q2QLG8, Q4R7U2, Q54BK0, Q5PXT2, Q5R966, Q5RD91, Q5U2P3, Q5ZA07, Q5ZML4, Q67YE6, Q6DIR5, Q6IDS6, Q6NUA0, Q6ZNB6, Q7ZXE9, Q8N6M9, Q8R5C8
Diamond homologs: A0JMY5, A6QLA0, B1AY10, Q12986, Q18034, Q6ZNB6, Q9FFK8, Q9P2E3, Q9SY59, O74853, P40798, Q54BK0, P53971
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| Ub:E2 | “up-regulates activity” | NFXL1 | ubiquitination |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 140 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 |
|---|---|---|---|
| Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane | 8 | 47.8× | 5e-10 |
| Transport of connexons to the plasma membrane | 8 | 47.8× | 5e-10 |
| Gap junction trafficking and regulation | 8 | 41.8× | 8e-10 |
| Gap junction trafficking | 8 | 41.8× | 8e-10 |
| Post-chaperonin tubulin folding pathway | 8 | 41.8× | 8e-10 |
| Metal ion SLC transporters | 6 | 39.6× | 1e-07 |
| Formation of tubulin folding intermediates by CCT/TriC | 8 | 37.2× | 2e-09 |
| Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding | 8 | 35.9× | 2e-09 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| zinc ion transmembrane transport | 6 | 33.7× | 1e-05 |
| intracellular zinc ion homeostasis | 5 | 19.3× | 7e-04 |
| protein N-linked glycosylation | 6 | 12.6× | 8e-04 |
| microtubule cytoskeleton organization | 10 | 9.7× | 3e-05 |
| mitotic cell cycle | 8 | 8.6× | 7e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
72 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 61 |
| Likely benign | 2 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3243 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:47848333:CAGC:C | acceptor_gain | 1.0000 |
| 4:47848335:GCC:G | acceptor_loss | 1.0000 |
| 4:47848337:C:CC | acceptor_gain | 1.0000 |
| 4:47848338:T:C | acceptor_loss | 1.0000 |
| 4:47851090:GTTA:G | donor_loss | 1.0000 |
| 4:47851091:TTA:T | donor_loss | 1.0000 |
| 4:47851092:TA:T | donor_loss | 1.0000 |
| 4:47851093:A:C | donor_loss | 1.0000 |
| 4:47851094:C:CT | donor_loss | 1.0000 |
| 4:47851144:TTTAT:T | acceptor_gain | 1.0000 |
| 4:47851145:TTAT:T | acceptor_gain | 1.0000 |
| 4:47851147:ATCTG:A | acceptor_loss | 1.0000 |
| 4:47851149:C:CC | acceptor_gain | 1.0000 |
| 4:47851149:CT:C | acceptor_loss | 1.0000 |
| 4:47851153:T:C | acceptor_gain | 1.0000 |
| 4:47851153:T:TC | acceptor_gain | 1.0000 |
| 4:47851155:A:AC | acceptor_gain | 1.0000 |
| 4:47851155:A:C | acceptor_gain | 1.0000 |
| 4:47851158:CACA:C | acceptor_gain | 1.0000 |
| 4:47851160:C:CT | acceptor_gain | 1.0000 |
| 4:47851161:A:C | acceptor_gain | 1.0000 |
| 4:47855161:AAGC:A | acceptor_loss | 1.0000 |
| 4:47855162:AGC:A | acceptor_loss | 1.0000 |
| 4:47855163:GC:G | acceptor_loss | 1.0000 |
| 4:47855164:C:CA | acceptor_loss | 1.0000 |
| 4:47862911:TTTTT:T | acceptor_gain | 1.0000 |
| 4:47862912:TTTT:T | acceptor_gain | 1.0000 |
| 4:47862913:TTT:T | acceptor_gain | 1.0000 |
| 4:47862914:TT:T | acceptor_gain | 1.0000 |
| 4:47862916:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
5990 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:47890634:A:G | C508R | 1.000 |
| 4:47903267:C:A | W191C | 1.000 |
| 4:47903267:C:G | W191C | 1.000 |
| 4:47903269:A:G | W191R | 1.000 |
| 4:47903269:A:T | W191R | 1.000 |
| 4:47885927:C:G | C539S | 0.999 |
| 4:47885928:A:G | C539R | 0.999 |
| 4:47885928:A:T | C539S | 0.999 |
| 4:47885985:A:G | C520R | 0.999 |
| 4:47885994:A:G | C517R | 0.999 |
| 4:47890619:G:C | H513D | 0.999 |
| 4:47890621:C:G | C512S | 0.999 |
| 4:47890622:A:G | C512R | 0.999 |
| 4:47890622:A:T | C512S | 0.999 |
| 4:47890632:A:C | C508W | 0.999 |
| 4:47890633:C:G | C508S | 0.999 |
| 4:47890634:A:T | C508S | 0.999 |
| 4:47890638:A:C | H506Q | 0.999 |
| 4:47890638:A:T | H506Q | 0.999 |
| 4:47890648:C:G | C503S | 0.999 |
| 4:47890649:A:G | C503R | 0.999 |
| 4:47890649:A:T | C503S | 0.999 |
| 4:47890667:A:G | C497R | 0.999 |
| 4:47890679:A:G | C493R | 0.999 |
| 4:47894191:A:G | C481R | 0.999 |
| 4:47894206:A:G | C476R | 0.999 |
| 4:47894224:A:G | C470R | 0.999 |
| 4:47894236:A:G | C466R | 0.999 |
| 4:47899376:G:C | H274D | 0.999 |
| 4:47899379:A:G | C273R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000055505 (4:47901700 TA>T), RS1000071439 (4:47878840 T>C), RS1000088810 (4:47866792 T>C), RS1000130155 (4:47914757 G>C,T), RS1000242218 (4:47850611 C>A,T), RS1000290311 (4:47865014 C>A,T), RS1000316337 (4:47851005 C>A,T), RS1000341516 (4:47907607 A>G), RS1000345265 (4:47851674 G>C), RS1000347890 (4:47907995 G>A,C,T), RS1000377198 (4:47900608 G>A,C), RS1000436478 (4:47873766 T>C), RS1000447646 (4:47852046 T>C), RS1000489743 (4:47904949 G>A), RS1000500021 (4:47879314 G>A,T)
Disease associations
OMIM: gene MIM:620488 | 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: yes
ChEMBL targets (1): CHEMBL6067386 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
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 |
|---|---|---|---|---|
| 5.50 | Kd | 3185 | nM | CHEMBL5653589 |
| 5.50 | ED50 | 3185 | 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 | 2148866: Binding affinity to human NFXL1 incubated for 45 mins by Kinobead based pull down assay | kd | 3.1851 | uM |
CTD chemical–gene interactions
45 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cyclosporine | decreases methylation, increases expression, affects cotreatment | 5 |
| Valproic Acid | decreases expression, increases expression, affects expression | 3 |
| Air Pollutants | decreases expression, increases abundance, increases expression | 2 |
| Estradiol | increases expression | 2 |
| Tunicamycin | increases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases methylation | 1 |
| pirinixic acid | increases expression, affects binding, increases activity | 1 |
| bisphenol A | decreases expression | 1 |
| nonanal | increases methylation | 1 |
| titanium dioxide | increases methylation | 1 |
| n-hexanal | increases methylation | 1 |
| sodium arsenite | decreases expression | 1 |
| butyraldehyde | increases methylation | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| caprylic aldehyde | increases methylation | 1 |
| pentanal | increases methylation | 1 |
| heptanal | increases methylation | 1 |
| nefazodone | affects cotreatment, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| pentabromodiphenyl ether | increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Atazanavir Sulfate | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Carbamazepine | affects 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 |
|---|---|---|---|
| CHEMBL5651908 | Binding | Binding affinity to human NFXL1 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 |
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.