NFX1

Summary

NFX1 (nuclear transcription factor, X-box binding 1, HGNC:7803) is a protein-coding gene on chromosome 9p13.3, encoding Transcriptional repressor NF-X1 (Q12986). Binds to the X-box motif of MHC class II genes and represses their expression.

MHC class II gene expression is controlled primarily at the transcriptional level by transcription factors that bind to the X and Y boxes, two highly conserved elements in the proximal promoter of MHC class II genes. The protein encoded by this gene is a transcriptional repressor capable of binding to the conserved X box motif of HLA-DRA and other MHC class II genes in vitro. The protein may play a role in regulating the duration of an inflammatory response by limiting the period in which class II MHC molecules are induced by IFN-gamma. Three alternative splice variants, each of which encodes a different isoform, have been identified.

Source: NCBI Gene 4799 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 168 total
• MANE Select transcript: NM_002504

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7803
Approved symbol	NFX1
Name	nuclear transcription factor, X-box binding 1
Location	9p13.3
Locus type	gene with protein product
Status	Approved
Aliases	NFX2, MGC20369, Tex42, TEG-42
Ensembl gene	ENSG00000086102
Ensembl biotype	protein_coding
OMIM	603255
Entrez	4799

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 7 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000318524, ENST00000379521, ENST00000379540, ENST00000463421, ENST00000466359, ENST00000466971, ENST00000910335, ENST00000910338, ENST00000910341, ENST00000910343, ENST00000939670

RefSeq mRNA: 3 — MANE Select: NM_002504 NM_001318758, NM_002504, NM_147134

CCDS: CCDS6538, CCDS6540

Canonical transcript exons

ENST00000379540 — 24 exons

Exon	Start	End
ENSE00000982600	33351560	33351790
ENSE00000982601	33352646	33352719
ENSE00000982602	33354086	33354187
ENSE00001091743	33367515	33367619
ENSE00001091745	33364010	33364108
ENSE00001387534	33369906	33371157
ENSE00001390437	33364708	33364774
ENSE00001607809	33313654	33313793
ENSE00001608394	33318910	33319127
ENSE00001661449	33342746	33342854
ENSE00001676112	33303191	33303268
ENSE00001679989	33318731	33318830
ENSE00001704335	33301263	33301421
ENSE00001706754	33338510	33338589
ENSE00001746240	33332472	33332502
ENSE00001787993	33307194	33307299
ENSE00001793176	33311106	33311177
ENSE00001800647	33294420	33295427
ENSE00001840726	33290516	33290597
ENSE00002718376	33354851	33354892
ENSE00003540565	33344069	33344188
ENSE00003664994	33347038	33347117
ENSE00003671660	33366629	33366774
ENSE00003677443	33328581	33328678

Expression profiles

Bgee: expression breadth ubiquitous, 270 present calls, max score 96.53.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 35.3068 / max 283.0321, expressed in 1816 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
96445	34.8776	1815
96447	0.2283	80
96446	0.2009	58

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	96.53	gold quality
skin of hip	UBERON:0001554	94.78	gold quality
cauda epididymis	UBERON:0004360	94.48	gold quality
caput epididymis	UBERON:0004358	94.22	gold quality
corpus epididymis	UBERON:0004359	94.12	gold quality
endothelial cell	CL:0000115	93.67	gold quality
heart right ventricle	UBERON:0002080	93.21	gold quality
oral cavity	UBERON:0000167	93.18	gold quality
upper leg skin	UBERON:0004262	93.10	gold quality
biceps brachii	UBERON:0001507	92.78	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	92.64	gold quality
gastrocnemius	UBERON:0001388	92.41	gold quality
mucosa of sigmoid colon	UBERON:0004993	92.41	gold quality
muscle of leg	UBERON:0001383	92.01	gold quality
hindlimb stylopod muscle	UBERON:0004252	91.83	gold quality
mucosa of paranasal sinus	UBERON:0005030	91.69	gold quality
tendon of biceps brachii	UBERON:0008188	91.68	gold quality
penis	UBERON:0000989	91.49	gold quality
colonic mucosa	UBERON:0000317	91.48	gold quality
seminal vesicle	UBERON:0000998	90.85	gold quality
amniotic fluid	UBERON:0000173	90.74	gold quality
trabecular bone tissue	UBERON:0002483	90.72	gold quality
skin of leg	UBERON:0001511	90.61	gold quality
tendon	UBERON:0000043	90.58	gold quality
jejunum	UBERON:0002115	90.45	gold quality
skin of abdomen	UBERON:0001416	90.44	gold quality
bronchial epithelial cell	CL:0002328	90.29	gold quality
zone of skin	UBERON:0000014	90.19	gold quality
jejunal mucosa	UBERON:0000399	90.11	gold quality
mammalian vulva	UBERON:0000997	90.05	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.52

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

6 targets.

Target	Regulation
CD74
FGFR1
HLA-DRA	Repression
HLA-E
NFKB1
TERT	Unknown

miRNA regulators (miRDB)

69 targeting NFX1, 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-4283	100.00	66.42	2097
HSA-MIR-3120-5P	100.00	65.56	965
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-3912-5P	99.95	66.11	925
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-4493	99.90	66.48	977
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777
HSA-MIR-302C-3P	99.89	71.20	1778
HSA-MIR-302D-3P	99.89	71.25	1777
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-373-3P	99.84	70.68	1668
HSA-MIR-520E-3P	99.84	70.55	1698
HSA-MIR-372-3P	99.83	70.58	1691
HSA-MIR-520A-3P	99.83	70.59	1687
HSA-MIR-520B-3P	99.83	70.56	1699
HSA-MIR-520C-3P	99.83	70.56	1699
HSA-MIR-520D-3P	99.83	70.78	1676
HSA-MIR-5002-5P	99.76	70.84	1763
HSA-MIR-7161-5P	99.68	68.92	1592
HSA-MIR-519C-3P	99.67	71.67	1870
HSA-MIR-519A-3P	99.67	71.67	1868

Literature-anchored findings (GeneRIF, showing 16)

• HuD acts as a novel adaptor protein to recruit TAP for efficient export of ARE-containing mRNAs in neuronal cells (PMID:15358174)
• the induction of hTERT telomerase by the HPV-16 E6/E6-AP complex involves targeting of NFX1-91, a newly identified repressor of telomerase, for ubiquitination and degradation. (PMID:15371341)
• Nrf1 is normally targeted to the endoplasmic reticulum membrane and endoplasmic reticulum stress may play a role in modulating Nrf1 function as a transcriptional activator (PMID:16687406)
• data suggest that NFX1-123 is integral to hTERT regulation in HPV16 E6-expressing epithelial cells and that the interaction between NFX1-123 and poly(A) binding proteins is critical to hTERT activity (PMID:17267499)
• These data demonstrate that targeted degradation of NFX1-91 by E6/E6AP dissociates the mSin3A/HDAC complex from the hTERT promoter and induces hTERT transcription. (PMID:18505829)
• NFX1-123 is a cytoplasmic protein that colocalizes with poly(A) binding proteins, and binds hTERT mRNA in HPV16 E6-expressing keratinocytes. (PMID:19369336)
• a mechanism for HPV16 E6 activation of the NFkappaB pathway through NFX1-91 (PMID:20739528)
• NFX1-123 and human papillomavirus 16E6 upregulated Notch 1 expression in keratinocytes. (PMID:24109236)
• Human papillomavirus 16 E6 (16E6) interacts with the cellular protein NFX1-123, and they collaboratively increase the growth and differentiation master regulator, Notch1. (PMID:25723053)
• The results showed that a repressor complex composed of NFX1-91, mSin3A and histone deacetylase 1 was involved in the PKC-delta-induced repression of the hTERT promoter, which resulted in the repression of hTERT transcription. (PMID:27311997)
• This study identifies NFX1-123 as a critical host protein partner through which 16E6 is able to subvert the immune response and in turn permit a long-lived high-risk Human papillomavirus infection. (PMID:29117186)
• Results indicate that NFX1-123 is markedly increased in cervical cancer, its greater expression in 16E6 expressing cells is associated with improved growth and telomerase activity, and that this association is maintained in HPV 16 positive cervical cancer cell lines. (PMID:30776478)
• NFX1-123 in mediating epithelial differentiation through the JNK signaling pathway. (PMID:30903928)
• we found that NFX1-123 was a bona fide substrate of the deubiquitinase USP9X and that it could be degraded by the ubiquitin-proteasome system. The present study provided new insight into understanding the biological function of USP9X by targeting its substrate NFX1-123. (PMID:31059266)
• initial mRNP binding to the NPC did not require NXF1 in the NPC, whereas release into the cytoplasm did. NXF1 localization in the NPC did not require RNA or RNA binding. Superresolution microscopy showed that NXF1 consistently occupied positions on the cytoplasmic side of the NPC. (PMID:31375530)
• High expression of NFX1-123 in HPV positive head and neck squamous cell carcinomas. (PMID:34693597)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	nfx1	ENSDARG00000105669
mus_musculus	Nfx1	ENSMUSG00000028423
rattus_norvegicus	Nfx1	ENSRNOG00000009015
drosophila_melanogaster	stc	FBGN0001978
caenorhabditis_elegans		WBGENE00007048

Paralogs (1): NFXL1 (ENSG00000170448)

Protein

Protein identifiers

Transcriptional repressor NF-X1 — Q12986 (reviewed: Q12986)

Alternative names: Nuclear transcription factor, X box-binding protein 1

All UniProt accessions (1): Q12986

UniProt curated annotations — full annotation on UniProt →

Function. Binds to the X-box motif of MHC class II genes and represses their expression. May play an important role in regulating the duration of an inflammatory response by limiting the period in which MHC class II molecules are induced by interferon-gamma. Isoform 3 binds to the X-box motif of TERT promoter and represses its expression. Together with PABPC1 or PABPC4, isoform 1 acts as a coactivator for TERT expression. Mediates E2-dependent ubiquitination.

Subunit / interactions. Isoform 1 interacts with PABPC1 and PABPC4. (Microbial infection) Isoform 1 and isoform 3 interact with human papillomavirus (HPV) type-16 E6 oncoprotein.

Subcellular location. Nucleus.

Post-translational modifications. Isoform 3 is polyubiquitinated in the presence of HPV16 E6 protein; which leads to proteasomal degradation. Isoform 1 is not polyubiquitinated.

Domain organisation. The RING-type zinc finger domain interacts with an ubiquitin-conjugating enzyme (E2) and facilitates ubiquitination.

Induction. By IFNG/IFN-gamma.

Similarity. Belongs to the NFX1 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q12986-1	1, NFX-123	yes
Q12986-2	2
Q12986-3	3, NFX-91

RefSeq proteins (3): NP_001305687, NP_002495, NP_667345 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000967	Znf_NFX1	Domain
IPR001374	R3H_dom	Domain
IPR001841	Znf_RING	Domain
IPR019787	Znf_PHD-finger	Domain
IPR034076	R3H_NF-X1	Domain
IPR034078	NFX1_fam	Family
IPR036867	R3H_dom_sf	Homologous_superfamily

Pfam: PF01422, PF01424

UniProt features (45 total): zinc finger region 9, sequence conflict 9, compositionally biased region 8, modified residue 6, splice variant 4, region of interest 3, sequence variant 3, chain 1, domain 1, mutagenesis site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q12986-F1	65.08	0.09

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, 82, 95, 129, 150, 326

Mutagenesis-validated functional residues (1):

Position	Phenotype
20	reduces pabpc1 and pabc4 binding.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 168 (showing top): MORF_MSH3, GOBP_INFLAMMATORY_RESPONSE, MORF_BRCA1, MORF_ATRX, MORF_ESR1, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN, WANG_RESPONSE_TO_BEXAROTENE_UP, BLALOCK_ALZHEIMERS_DISEASE_UP, USF_01, chr9p13, GOBP_PROTEIN_AUTOUBIQUITINATION, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, USF_02, MORF_ATF2, PARENT_MTOR_SIGNALING_UP

GO Biological Process (6): negative regulation of transcription by RNA polymerase II (GO:0000122), transcription by RNA polymerase II (GO:0006366), inflammatory response (GO:0006954), protein ubiquitination (GO:0016567), negative regulation of MHC class II biosynthetic process (GO:0045347), protein autoubiquitination (GO:0051865)

GO Molecular Function (12): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription repressor activity, RNA polymerase II-specific (GO:0001227), RNA binding (GO:0003723), zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), nucleic acid binding (GO:0003676), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (6): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytosol (GO:0005829), plasma membrane (GO:0005886)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
regulation of transcription by RNA polymerase II	2
transcription cis-regulatory region binding	2
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
nucleic acid binding	2
binding	2
nuclear lumen	2
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
DNA-templated transcription	1
defense response	1
protein modification by small protein conjugation	1
negative regulation of macromolecule biosynthetic process	1
MHC class II biosynthetic process	1
regulation of MHC class II biosynthetic process	1
protein ubiquitination	1
chromatin	1
DNA-binding transcription factor activity	1
negative regulation of transcription by RNA polymerase II	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription repressor activity	1
transition metal ion binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
regulation of DNA-templated transcription	1
transcription regulator activity	1
catalytic activity	1
cation binding	1
chromosome	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1
cytoplasm	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

2382 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NFX1	HLA-DRA	P01903	809
NFX1	UBE3A	P78355	728
NFX1	CNTFR	P26992	711
NFX1	PABPC1	P11940	626
NFX1	NXT1	Q9UKK6	610
NFX1	ZNFX1	Q9P2E3	593
NFX1	SIN3A	Q96ST3	570
NFX1	ALYREF	Q86V81	548
NFX1	NXF1	Q9UBU9	541
NFX1	LONRF2	Q1L5Z9	527
NFX1	TP53	P04637	507
NFX1	RFX5	P48382	493
NFX1	SYNCRIP	O60506	483
NFX1	SUPT16H	Q9Y5B9	479
NFX1	CPSF4	O95639	476

IntAct

56 interactions, top by confidence:

A	B	Type	Score
CSNK2B	RPS6KA4	psi-mi:“MI:0914”(association)	0.640
ZNF574	THAP12	psi-mi:“MI:0914”(association)	0.620
DMWD	NFX1	psi-mi:“MI:0915”(physical association)	0.560
GFAP	NFX1	psi-mi:“MI:0915”(physical association)	0.560
GRN	NFX1	psi-mi:“MI:0915”(physical association)	0.560
LMNA	NFX1	psi-mi:“MI:0915”(physical association)	0.560
TSC1	NFX1	psi-mi:“MI:0915”(physical association)	0.560
SPRED1	NFX1	psi-mi:“MI:0915”(physical association)	0.560
ATXN1	NFX1	psi-mi:“MI:0915”(physical association)	0.560
N	NOP56	psi-mi:“MI:0914”(association)	0.530
N	RBM47	psi-mi:“MI:0914”(association)	0.530
APBA3	DUSP11	psi-mi:“MI:0914”(association)	0.530
APBA3	CLSTN1	psi-mi:“MI:0914”(association)	0.530
NFX1	MYH9	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (515): NFX1 (Affinity Capture-RNA), NFX1 (Affinity Capture-RNA), NFX1 (Affinity Capture-RNA), NFX1 (Affinity Capture-MS), NFX1 (Affinity Capture-MS), NFX1 (Affinity Capture-MS), NFX1 (Affinity Capture-MS), NFX1 (Affinity Capture-MS), NFX1 (Reconstituted Complex), NFX1 (Affinity Capture-MS), NFX1 (Proximity Label-MS), USP9X (Affinity Capture-Western), NFX1 (Affinity Capture-Western), HDLBP (Affinity Capture-MS), RPS9 (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

8 interactions.

A	Effect	B	Mechanism
NFX1	“up-regulates activity”	PABPC1	binding
NFX1	“up-regulates quantity by expression”	TERT	“transcriptional regulation”
NFX1	“up-regulates activity”	SIN3A	binding
PABPC4	“up-regulates activity”	NFX1	binding
PABPC1	“up-regulates activity”	NFX1	binding
NFX1	“down-regulates quantity by repression”	HLA-DRA	“transcriptional regulation”
Ub:E2	“up-regulates activity”	NFX1	ubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	121
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3370 predictions. Top by Δscore:

Variant	Effect	Δscore
9:33293737:G:T	donor_gain	1.0000
9:33307300:G:GG	donor_gain	1.0000
9:33311104:A:AG	acceptor_gain	1.0000
9:33311105:G:GA	acceptor_gain	1.0000
9:33311105:GT:G	acceptor_gain	1.0000
9:33318729:A:G	acceptor_gain	1.0000
9:33318730:G:GG	acceptor_gain	1.0000
9:33318820:A:G	donor_gain	1.0000
9:33318825:TGGC:T	donor_gain	1.0000
9:33318831:G:GG	donor_gain	1.0000
9:33338495:A:AG	acceptor_gain	1.0000
9:33342850:AGCCA:A	donor_gain	1.0000
9:33342851:GCCA:G	donor_gain	1.0000
9:33342851:GCCAG:G	donor_gain	1.0000
9:33342852:CCA:C	donor_gain	1.0000
9:33342852:CCAGT:C	donor_loss	1.0000
9:33342853:CA:C	donor_gain	1.0000
9:33342853:CAG:C	donor_loss	1.0000
9:33342855:G:A	donor_loss	1.0000
9:33342855:G:GG	donor_gain	1.0000
9:33342856:T:A	donor_loss	1.0000
9:33342857:GAGT:G	donor_loss	1.0000
9:33344058:T:A	acceptor_gain	1.0000
9:33347036:A:AG	acceptor_gain	1.0000
9:33347037:G:GA	acceptor_gain	1.0000
9:33347037:GT:G	acceptor_gain	1.0000
9:33354077:A:AG	acceptor_gain	1.0000
9:33354078:T:G	acceptor_gain	1.0000
9:33354079:A:AG	acceptor_gain	1.0000
9:33354082:TCAG:T	acceptor_loss	1.0000

AlphaMissense

7443 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:33301281:T:C	L351P	1.000
9:33301301:T:C	C358R	1.000
9:33301303:C:G	C358W	1.000
9:33301310:T:C	C361R	1.000
9:33301349:T:C	C374R	1.000
9:33301359:G:A	C377Y	1.000
9:33301382:T:C	C385R	1.000
9:33301383:G:A	C385Y	1.000
9:33301384:C:G	C385W	1.000
9:33301394:T:A	W389R	1.000
9:33301394:T:C	W389R	1.000
9:33301396:G:C	W389C	1.000
9:33301396:G:T	W389C	1.000
9:33303205:T:A	W403R	1.000
9:33303205:T:C	W403R	1.000
9:33303211:T:A	C405S	1.000
9:33303211:T:C	C405R	1.000
9:33303212:G:C	C405S	1.000
9:33303259:T:C	C421R	1.000
9:33303261:T:G	C421W	1.000
9:33303265:T:C	C423R	1.000
9:33303266:G:A	C423Y	1.000
9:33307238:A:C	S439R	1.000
9:33307240:C:A	S439R	1.000
9:33307240:C:G	S439R	1.000
9:33307241:T:C	C440R	1.000
9:33307242:G:A	C440Y	1.000
9:33307292:T:C	C457R	1.000
9:33307293:G:A	C457Y	1.000
9:33311110:T:A	C461S	1.000

dbSNP variants (sampled 300 via entrez): RS1000017569 (9:33334869 T>C), RS1000033349 (9:33293619 A>C,G), RS1000101564 (9:33363557 T>C), RS1000135554 (9:33297761 G>A), RS1000231708 (9:33307537 C>T), RS1000244490 (9:33314350 A>G), RS1000260013 (9:33349708 G>C), RS1000273454 (9:33331947 G>A), RS1000328477 (9:33300287 T>A), RS1000378009 (9:33366826 C>T), RS1000419676 (9:33325380 C>G), RS1000477061 (9:33360064 T>A), RS1000505503 (9:33337661 C>T), RS1000601255 (9:33326248 A>G), RS1000609127 (9:33333224 G>C)

Disease associations

OMIM: gene MIM:603255 | 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)

CTD chemical–gene interactions

33 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression, affects binding, increases reaction, decreases expression, increases abundance	4
Valproic Acid	affects expression, decreases expression	2
Aflatoxin B1	decreases methylation, increases methylation	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases methylation	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
4-hydroxy-2-nonenal	decreases expression	1
coumarin	affects phosphorylation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
PCI 5002	affects cotreatment, increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Vorinostat	affects cotreatment, decreases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	affects expression, increases abundance	1
Arsenic	increases abundance, increases expression	1
Caffeine	affects phosphorylation	1
Succimer	affects cotreatment, increases expression	1
Doxorubicin	increases expression	1
Formaldehyde	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Ozone	affects expression, increases abundance	1
Ribonucleotides	affects binding	1
Tretinoin	decreases expression	1
Zinc	affects cotreatment, increases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1

Cellosaurus cell lines

3 cell lines: 3 embryonic stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_A4N8	SEES3-1V human NFX1, clone1	Embryonic stem cell	Male
CVCL_A4N9	SEES3-1V human NFX1, clone2	Embryonic stem cell	Male
CVCL_A4P0	SEES3-1V human NFX1, clone3	Embryonic stem cell	Male

Clinical trials (associated diseases)

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