NSFL1C
gene geneOn this page
Also known as dJ776F14.1p47UBXD10UBX1UBXN2C
Summary
NSFL1C (NSFL1 cofactor, HGNC:15912) is a protein-coding gene on chromosome 20p13, encoding NSFL1 cofactor p47 (Q9UNZ2). Reduces the ATPase activity of VCP.
N-ethylmaleimide-sensitive factor (NSF) and valosin-containing protein (p97) are two ATPases known to be involved in transport vesicle/target membrane fusion and fusions between membrane compartments. A trimer of the protein encoded by this gene binds a hexamer of cytosolic p97 and is required for p97-mediated regrowth of Golgi cisternae from mitotic Golgi fragments. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8.
Source: NCBI Gene 55968 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 57 total
- Druggable target: yes
- MANE Select transcript:
NM_016143
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:15912 |
| Approved symbol | NSFL1C |
| Name | NSFL1 cofactor |
| Location | 20p13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | dJ776F14.1, p47, UBXD10, UBX1, UBXN2C |
| Ensembl gene | ENSG00000088833 |
| Ensembl biotype | protein_coding |
| OMIM | 606610 |
| Entrez | 55968 |
Gene structure
Transcript identifiers
Ensembl transcripts: 23 — 13 protein_coding, 5 nonsense_mediated_decay, 3 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000216879, ENST00000353088, ENST00000381653, ENST00000461211, ENST00000470376, ENST00000476071, ENST00000478168, ENST00000487086, ENST00000489203, ENST00000553571, ENST00000555359, ENST00000555568, ENST00000555944, ENST00000855884, ENST00000855885, ENST00000855886, ENST00000855887, ENST00000855888, ENST00000855889, ENST00000926113, ENST00000926114, ENST00000926115, ENST00000965405
RefSeq mRNA: 3 — MANE Select: NM_016143
NM_001206736, NM_016143, NM_018839
CCDS: CCDS13015, CCDS13016, CCDS56175
Canonical transcript exons
ENST00000216879 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001932603 | 1466720 | 1466849 |
| ENSE00003467602 | 1453031 | 1453140 |
| ENSE00003489786 | 1458200 | 1458274 |
| ENSE00003574250 | 1454213 | 1454305 |
| ENSE00003604686 | 1445666 | 1445830 |
| ENSE00003628337 | 1464329 | 1464426 |
| ENSE00003647951 | 1452493 | 1452630 |
| ENSE00003671857 | 1454967 | 1455132 |
| ENSE00003910285 | 1442166 | 1443911 |
Expression profiles
Bgee: expression breadth ubiquitous, 298 present calls, max score 96.79.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 36.7805 / max 229.6578, expressed in 1823 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 186018 | 34.2950 | 1822 |
| 186019 | 2.0189 | 1244 |
| 186020 | 0.4070 | 101 |
| 186021 | 0.0596 | 20 |
Top tissues by expression
301 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right adrenal gland | UBERON:0001233 | 96.79 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 96.75 | gold quality |
| left adrenal gland | UBERON:0001234 | 96.62 | gold quality |
| gastrocnemius | UBERON:0001388 | 96.55 | gold quality |
| adrenal gland | UBERON:0002369 | 96.44 | gold quality |
| adrenal cortex | UBERON:0001235 | 96.40 | gold quality |
| muscle of leg | UBERON:0001383 | 96.38 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 96.37 | gold quality |
| skin of leg | UBERON:0001511 | 96.31 | gold quality |
| adrenal tissue | UBERON:0018303 | 96.18 | gold quality |
| tibialis anterior | UBERON:0001385 | 96.02 | gold quality |
| skin of abdomen | UBERON:0001416 | 96.02 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 95.97 | gold quality |
| monocyte | CL:0000576 | 95.96 | gold quality |
| retina | UBERON:0000966 | 95.95 | gold quality |
| prefrontal cortex | UBERON:0000451 | 95.89 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 95.78 | gold quality |
| right frontal lobe | UBERON:0002810 | 95.74 | gold quality |
| ganglionic eminence | UBERON:0004023 | 95.70 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 95.70 | gold quality |
| mononuclear cell | CL:0000842 | 95.68 | gold quality |
| islet of Langerhans | UBERON:0000006 | 95.64 | gold quality |
| cortical plate | UBERON:0005343 | 95.64 | gold quality |
| leukocyte | CL:0000738 | 95.62 | gold quality |
| blood | UBERON:0000178 | 95.59 | gold quality |
| amygdala | UBERON:0001876 | 95.56 | gold quality |
| popliteal artery | UBERON:0002250 | 95.53 | gold quality |
| esophagus mucosa | UBERON:0002469 | 95.52 | gold quality |
| tibial artery | UBERON:0007610 | 95.52 | gold quality |
| granulocyte | CL:0000094 | 95.46 | 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
Upstream regulators (CollecTRI, top): SPI1
miRNA regulators (miRDB)
71 targeting NSFL1C, 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-1193 | 100.00 | 65.93 | 529 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-6888-3P | 99.97 | 65.95 | 1170 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-221-5P | 99.86 | 65.45 | 1052 |
| HSA-MIR-8073 | 99.86 | 65.21 | 1118 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-544A | 99.84 | 68.66 | 1965 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-3934-3P | 99.76 | 65.51 | 1351 |
| HSA-MIR-11181-3P | 99.75 | 66.38 | 2205 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
| HSA-MIR-4428 | 99.73 | 66.41 | 1733 |
| HSA-MIR-4719 | 99.73 | 72.10 | 3329 |
| HSA-MIR-1827 | 99.63 | 68.57 | 3265 |
| HSA-MIR-4328 | 99.57 | 71.06 | 4094 |
| HSA-MIR-3153 | 99.55 | 67.59 | 2337 |
| HSA-MIR-6722-3P | 99.45 | 67.62 | 1919 |
| HSA-MIR-6165 | 99.44 | 67.12 | 1389 |
| HSA-MIR-2392 | 99.43 | 67.50 | 708 |
| HSA-MIR-548B-3P | 99.38 | 67.26 | 1000 |
| HSA-MIR-6507-3P | 99.35 | 67.32 | 1059 |
| HSA-MIR-4311 | 99.31 | 70.47 | 3041 |
| HSA-MIR-3678-3P | 99.31 | 67.10 | 1432 |
| HSA-MIR-3606-5P | 99.31 | 69.67 | 1168 |
| HSA-MIR-6731-5P | 99.28 | 67.42 | 2375 |
| HSA-MIR-8085 | 99.28 | 67.56 | 2362 |
Literature-anchored findings (GeneRIF, showing 8)
- Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia. (PMID:19165527)
- The binding of p47 to polyubiquitinated NEMO triggers the lysosomal degradation of NEMO, thereby inhibiting IKK activation. (PMID:22990857)
- human p37/p47 and their C. elegans orthologue UBXN-2 regulate centrosome function in prophase by limiting the recruitment of Aurora A (PMID:23649807)
- The present results for the first time demonstrate that BDNF induces NADPH oxidase -derived reactive oxygen species generation through activation of p47 phox in a TrkB receptor-dependent manner (PMID:24612679)
- p47 promotes, whereas SASK1 delays the degradation of a single ERAD substrate, alpha-TCR. Additionally, we found that SAKS1 selectively inhibits the degradation of ERAD substrates without affecting cytosolic proteasomal substrates. (PMID:27785701)
- Degradation of p47 by autophagy contributes to CADM1 overexpression in ATLL cells through the activation of NF-kappaB. (PMID:30837480)
- p97 and p47 function in membrane tethering in cooperation with FTCD during mitotic Golgi reassembly. (PMID:33555040)
- Translocator protein (18 kDa) regulates the microglial phenotype in Parkinson’s disease through P47. (PMID:35475466)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | nsfl1c | ENSDARG00000087640 |
| mus_musculus | Nsfl1c | ENSMUSG00000027455 |
| rattus_norvegicus | Nsfl1c | ENSRNOG00000008604 |
| drosophila_melanogaster | p47 | FBGN0033179 |
| drosophila_melanogaster | CG42383 | FBGN0259729 |
| caenorhabditis_elegans | WBGENE00022381 |
Paralogs (3): UBXN11 (ENSG00000158062), UBXN2A (ENSG00000173960), UBXN2B (ENSG00000215114)
Protein
Protein identifiers
NSFL1 cofactor p47 — Q9UNZ2 (reviewed: Q9UNZ2)
Alternative names: UBX domain-containing protein 2C, p97 cofactor p47
All UniProt accessions (5): Q9UNZ2, F2Z2K0, G3V4V8, R4GMY2, R4GNE6
UniProt curated annotations — full annotation on UniProt →
Function. Reduces the ATPase activity of VCP. Necessary for the fragmentation of Golgi stacks during mitosis and for VCP-mediated reassembly of Golgi stacks after mitosis. May play a role in VCP-mediated formation of transitional endoplasmic reticulum (tER). Inhibits the activity of CTSL (in vitro). Together with UBXN2B/p37, regulates the centrosomal levels of kinase AURKA/Aurora A during mitotic progression by promoting AURKA removal from centrosomes in prophase. Also, regulates spindle orientation during mitosis.
Subunit / interactions. Part of a ternary complex containing STX5A, NSFL1C and VCP. NSFL1C forms a homotrimer that binds to one end of a VCP homohexamer. The complex binds to membranes enriched in phosphatidylethanolamine-containing lipids and promotes Golgi membrane fusion. Interaction with VCIP135 leads to dissociation of the complex via ATP hydrolysis by VCP. Binds ubiquitin and mono-ubiquitinated proteins via its N-terminal UBA-like domain when bound to VCP.
Subcellular location. Nucleus. Golgi apparatus. Golgi stack. Chromosome. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome.
Post-translational modifications. Phosphorylated during mitosis. Phosphorylation inhibits interaction with Golgi membranes and is required for the fragmentation of the Golgi stacks during mitosis.
Similarity. Belongs to the NSFL1C family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UNZ2-1 | 1 | yes |
| Q9UNZ2-4 | 2 | |
| Q9UNZ2-5 | 3 | |
| Q9UNZ2-6 | 4 |
RefSeq proteins (3): NP_001193665, NP_057227, NP_061327 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001012 | UBX_dom | Domain |
| IPR009060 | UBA-like_sf | Homologous_superfamily |
| IPR012989 | SEP_domain | Domain |
| IPR029071 | Ubiquitin-like_domsf | Homologous_superfamily |
| IPR036241 | NSFL1C_SEP_dom_sf | Homologous_superfamily |
Pfam: PF00789, PF08059, PF14555
UniProt features (42 total): strand 11, modified residue 8, helix 5, turn 4, splice variant 3, domain 2, region of interest 2, short sequence motif 2, compositionally biased region 2, chain 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8HRZ | X-RAY DIFFRACTION | 2.7 |
| 9MPU | ELECTRON MICROSCOPY | 4 |
| 1SS6 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UNZ2-F1 | 74.70 | 0.13 |
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 (8): 102, 114, 140, 167, 176, 192, 272, 74
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9013407 | RHOH GTPase cycle |
MSigDB gene sets: 198 (showing top):
GOBP_ESTABLISHMENT_OF_SPINDLE_ORIENTATION, GOBP_PROTEIN_LOCALIZATION_TO_CYTOSKELETON, GOBP_NUCLEAR_MEMBRANE_REASSEMBLY, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, GOBP_VACUOLE_ORGANIZATION, GOBP_MEMBRANE_BIOGENESIS, GOBP_SPINDLE_LOCALIZATION, GOBP_MEMBRANE_FUSION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_MACROAUTOPHAGY
GO Biological Process (9): autophagosome assembly (GO:0000045), establishment of mitotic spindle orientation (GO:0000132), ubiquitin-dependent protein catabolic process (GO:0006511), Golgi organization (GO:0007030), nuclear membrane reassembly (GO:0031468), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), positive regulation of mitotic centrosome separation (GO:0046604), membrane fusion (GO:0061025), negative regulation of protein localization to centrosome (GO:1904780)
GO Molecular Function (3): lipid binding (GO:0008289), ubiquitin binding (GO:0043130), protein binding (GO:0005515)
GO Cellular Component (9): nucleus (GO:0005634), chromosome (GO:0005694), cytoplasm (GO:0005737), Golgi stack (GO:0005795), centrosome (GO:0005813), cytosol (GO:0005829), VCP-NSFL1C complex (GO:1990730), Golgi apparatus (GO:0005794), cytoskeleton (GO:0005856)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| RHO GTPase cycle | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 3 |
| binding | 2 |
| intracellular membrane-bounded organelle | 2 |
| intracellular membraneless organelle | 2 |
| cellular anatomical structure | 2 |
| Atg12 activating enzyme activity | 1 |
| protein-phosphatidylethanolamide deconjugating activity | 1 |
| Atg12 conjugating enzyme activity | 1 |
| Atg12 ligase activity | 1 |
| organelle assembly | 1 |
| Atg1/ULK1 kinase complex assembly | 1 |
| autophagosome organization | 1 |
| mitotic cell cycle | 1 |
| establishment of mitotic spindle localization | 1 |
| establishment of spindle orientation | 1 |
| protein ubiquitination | 1 |
| modification-dependent protein catabolic process | 1 |
| organelle organization | 1 |
| endomembrane system organization | 1 |
| membrane assembly | 1 |
| nuclear membrane organization | 1 |
| ubiquitin-dependent protein catabolic process | 1 |
| proteasomal protein catabolic process | 1 |
| mitotic centrosome separation | 1 |
| regulation of mitotic centrosome separation | 1 |
| positive regulation of cell cycle process | 1 |
| membrane organization | 1 |
| protein localization to centrosome | 1 |
| negative regulation of protein localization | 1 |
| regulation of protein localization to centrosome | 1 |
| ubiquitin-like protein binding | 1 |
| intracellular anatomical structure | 1 |
| Golgi apparatus subcompartment | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| protein-containing complex | 1 |
| endomembrane system | 1 |
Protein interactions and networks
STRING
1590 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NSFL1C | VCP | P55072 | 937 |
| NSFL1C | VCPIP1 | Q96JH7 | 875 |
| NSFL1C | STX5 | Q13190 | 767 |
| NSFL1C | UBXN6 | Q9BZV1 | 702 |
| NSFL1C | UBXN11 | Q5T124 | 699 |
| NSFL1C | UFD1 | Q92890 | 682 |
| NSFL1C | UBXN7 | O94888 | 603 |
| NSFL1C | NPLOC4 | Q8TAT6 | 591 |
| NSFL1C | UBXN1 | Q04323 | 578 |
| NSFL1C | ASPSCR1 | Q9BZE9 | 548 |
| NSFL1C | FAF1 | Q9UNN5 | 540 |
| NSFL1C | GABARAPL2 | P60520 | 521 |
| NSFL1C | F5GZY7 | F5GZY7 | 519 |
| NSFL1C | UBXN8 | O00124 | 496 |
| NSFL1C | BET1L | Q9NYM9 | 492 |
| NSFL1C | DGLUCY | Q7Z3D6 | 492 |
IntAct
123 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| VCP | NSFL1C | psi-mi:“MI:0915”(physical association) | 0.970 |
| NSFL1C | VCP | psi-mi:“MI:0915”(physical association) | 0.970 |
| VCP | NSFL1C | psi-mi:“MI:0407”(direct interaction) | 0.970 |
| VCP | NSFL1C | psi-mi:“MI:2364”(proximity) | 0.970 |
| NSFL1C | VCP | psi-mi:“MI:2364”(proximity) | 0.970 |
| NSFL1C | VCP | psi-mi:“MI:0914”(association) | 0.970 |
| MED4 | MED19 | psi-mi:“MI:2364”(proximity) | 0.900 |
| VCP | ATXN3 | psi-mi:“MI:0914”(association) | 0.830 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| VCP | UBXN8 | psi-mi:“MI:0914”(association) | 0.690 |
| TARDBP | NSFL1C | psi-mi:“MI:0915”(physical association) | 0.670 |
| NUF2 | SPC24 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (273): NSFL1C (Two-hybrid), NSFL1C (Reconstituted Complex), VCP (Protein-peptide), NSFL1C (Two-hybrid), UBC (Affinity Capture-Western), UBC (Reconstituted Complex), VCP (Affinity Capture-Western), NSFL1C (Two-hybrid), NSFL1C (Reconstituted Complex), ITPA (Co-fractionation), NSFL1C (Co-fractionation), NSFL1C (Co-fractionation), NSFL1C (Co-fractionation), NSFL1C (Co-fractionation), NSFL1C (Co-fractionation)
ESM2 similar proteins: G5EES6, H2L056, O13900, O14048, O17850, O35987, O74498, P0C8Q0, P27692, P34223, P34631, P35728, P38349, P40087, P55034, P87157, Q06336, Q06682, Q09289, Q10410, Q12017, Q12229, Q3SZC4, Q45FF9, Q4PGU6, Q5R630, Q5RBG3, Q5XIR9, Q5ZK10, Q60XN1, Q6BK42, Q6CHI1, Q6CWW9, Q6FQE9, Q6FRZ5, Q6NQK0, Q754R2, Q756I2, Q759T6, Q7Y175
Diamond homologs: D3ZID8, O35987, P0C627, P34223, P68543, Q0KL01, Q0P3R5, Q14CS0, Q3SZC4, Q5RBG3, Q5ZK10, Q5ZLK2, Q7Y175, Q8RWU7, Q99KJ0, Q9CZ44, Q9SUG6, Q9UNZ2, Q9UT81, F4IXN6, P0C8Q0, Q54BQ5, Q9N2W5
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CDK1 | “down-regulates activity” | NSFL1C | phosphorylation |
| NSFL1C | “down-regulates activity” | CTSL | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 118 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 |
|---|---|---|---|
| Programmed Cell Death | 6 | 10.3× | 7e-03 |
| mRNA Splicing - Major Pathway | 11 | 7.1× | 2e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
57 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 38 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2248 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:1452490:TA:T | donor_loss | 1.0000 |
| 20:1452626:CCTCC:C | acceptor_gain | 1.0000 |
| 20:1452627:CTCC:C | acceptor_gain | 1.0000 |
| 20:1452627:CTCCC:C | acceptor_gain | 1.0000 |
| 20:1452628:TCC:T | acceptor_gain | 1.0000 |
| 20:1452628:TCCCT:T | acceptor_gain | 1.0000 |
| 20:1452629:CC:C | acceptor_gain | 1.0000 |
| 20:1452629:CCC:C | acceptor_gain | 1.0000 |
| 20:1452630:CC:C | acceptor_gain | 1.0000 |
| 20:1452631:C:CC | acceptor_gain | 1.0000 |
| 20:1452631:CTGT:C | acceptor_loss | 1.0000 |
| 20:1452632:T:C | acceptor_loss | 1.0000 |
| 20:1453027:TCA:T | donor_loss | 1.0000 |
| 20:1453029:A:AC | donor_gain | 1.0000 |
| 20:1453029:AC:A | donor_gain | 1.0000 |
| 20:1453029:ACCC:A | donor_loss | 1.0000 |
| 20:1453030:C:CC | donor_gain | 1.0000 |
| 20:1453030:CC:C | donor_gain | 1.0000 |
| 20:1453030:CCCT:C | donor_gain | 1.0000 |
| 20:1453136:TGAAC:T | acceptor_gain | 1.0000 |
| 20:1453137:GAAC:G | acceptor_gain | 1.0000 |
| 20:1453138:AAC:A | acceptor_gain | 1.0000 |
| 20:1453139:AC:A | acceptor_gain | 1.0000 |
| 20:1453140:CC:C | acceptor_gain | 1.0000 |
| 20:1453141:C:CC | acceptor_gain | 1.0000 |
| 20:1453141:C:CG | acceptor_loss | 1.0000 |
| 20:1453142:T:G | acceptor_loss | 1.0000 |
| 20:1453143:G:GC | acceptor_gain | 1.0000 |
| 20:1453146:A:AC | acceptor_gain | 1.0000 |
| 20:1454206:CACT:C | donor_loss | 1.0000 |
AlphaMissense
2436 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:1443833:G:C | F343L | 1.000 |
| 20:1443833:G:T | F343L | 1.000 |
| 20:1443835:A:G | F343L | 1.000 |
| 20:1452519:G:C | F253L | 1.000 |
| 20:1452519:G:T | F253L | 1.000 |
| 20:1452521:A:G | F253L | 1.000 |
| 20:1452580:A:G | L233S | 1.000 |
| 20:1452622:G:T | P219Q | 1.000 |
| 20:1453040:A:T | I213N | 1.000 |
| 20:1453105:G:C | F191L | 1.000 |
| 20:1453105:G:T | F191L | 1.000 |
| 20:1453106:A:G | F191S | 1.000 |
| 20:1453107:A:G | F191L | 1.000 |
| 20:1453109:C:T | G190E | 1.000 |
| 20:1453119:A:G | W187R | 1.000 |
| 20:1453119:A:T | W187R | 1.000 |
| 20:1453121:A:G | L186P | 1.000 |
| 20:1453127:A:G | L184S | 1.000 |
| 20:1455034:G:T | A126D | 1.000 |
| 20:1455043:A:G | F123S | 1.000 |
| 20:1455046:A:G | L122P | 1.000 |
| 20:1455094:A:C | I106S | 1.000 |
| 20:1455094:A:T | I106N | 1.000 |
| 20:1455103:C:T | G103E | 1.000 |
| 20:1455104:C:G | G103R | 1.000 |
| 20:1455104:C:T | G103R | 1.000 |
| 20:1455118:C:T | G98D | 1.000 |
| 20:1455119:C:G | G98R | 1.000 |
| 20:1455121:C:T | G97E | 1.000 |
| 20:1455122:C:A | G97W | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000006974 (20:1447135 A>C), RS1000075141 (20:1464094 A>G), RS1000100019 (20:1459163 C>T), RS1000132572 (20:1459571 C>T), RS1000253025 (20:1452755 C>A,T), RS1000419469 (20:1446439 T>C,G), RS1000439617 (20:1465724 T>C), RS1000452025 (20:1446904 G>A), RS1000465676 (20:1465713 C>T), RS1000702182 (20:1454741 T>C), RS1000942004 (20:1442043 T>C), RS1000951612 (20:1442319 T>G), RS1000965864 (20:1448432 T>A), RS1000967187 (20:1461399 T>G), RS1001244164 (20:1443037 C>A)
Disease associations
OMIM: gene MIM:606610 | 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): CHEMBL6067304 (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 |
|---|---|---|---|---|
| 7.07 | Kd | 84.98 | nM | CHEMBL5653589 |
| 7.07 | ED50 | 84.98 | 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 | 2148890: Binding affinity to human NSFL1C incubated for 45 mins by Kinobead based pull down assay | kd | 0.0850 | uM |
CTD chemical–gene interactions
38 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression, decreases expression, increases abundance | 3 |
| Valproic Acid | affects expression, affects cotreatment, increases expression | 3 |
| Cyclosporine | increases expression | 3 |
| cobaltous chloride | decreases expression, increases expression | 2 |
| Arsenic | increases abundance, increases expression, increases ubiquitination | 2 |
| Benzo(a)pyrene | affects cotreatment, decreases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| pyrogallol 1,3-dimethyl ether | affects cotreatment, decreases expression, affects localization, increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| cylindrospermopsin | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| nutlin 3 | affects cotreatment, increases secretion | 1 |
| bisphenol B | increases expression | 1 |
| abrine | increases expression | 1 |
| jinfukang | increases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Benztropine | decreases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
| Dactinomycin | affects cotreatment, increases secretion | 1 |
| Furaldehyde | affects cotreatment, affects localization, decreases expression, increases expression | 1 |
| Hydralazine | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases 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 |
|---|---|---|---|
| CHEMBL5651932 | Binding | Binding affinity to human NSFL1C 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.