MAF1

Summary

MAF1 (MAF1 negative regulator of RNA polymerase III, HGNC:24966) is a protein-coding gene on chromosome 8q24.3, encoding Repressor of RNA polymerase III transcription MAF1 homolog (Q9H063). Plays a role in the repression of RNA polymerase III-mediated transcription in response to changing nutritional, environmental and cellular stress conditions to balance the production of highly abundant tRNAs, 5S rRNA, and other small non-coding RNAs with cell growth and mainten….

This gene encodes a protein that is similar to Maf1, a Saccharomyces cerevisiae protein highly conserved in eukaryotic cells. Yeast Maf1 is a negative effector of RNA polymerase III (Pol III). It responds to changes in the cellular environment and represses pol III transcription. Biochemical studies identified the initiation factor TFIIIB as a target for Maf1-dependent repression.

Source: NCBI Gene 84232 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 43 total — 1 pathogenic
• MANE Select transcript: NM_032272

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24966
Approved symbol	MAF1
Name	MAF1 negative regulator of RNA polymerase III
Location	8q24.3
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp586G1123
Ensembl gene	ENSG00000179632
Ensembl biotype	protein_coding
OMIM	610210
Entrez	84232

Gene structure

Transcript identifiers

Ensembl transcripts: 27 — 27 protein_coding

ENST00000322428, ENST00000527058, ENST00000527572, ENST00000532522, ENST00000534585, ENST00000534811, ENST00000715465, ENST00000876665, ENST00000876666, ENST00000876667, ENST00000876668, ENST00000876669, ENST00000876670, ENST00000876671, ENST00000876672, ENST00000876673, ENST00000876674, ENST00000876675, ENST00000876676, ENST00000964343, ENST00000964344, ENST00000964345, ENST00000964346, ENST00000964347, ENST00000964348, ENST00000964349, ENST00000964350

RefSeq mRNA: 1 — MANE Select: NM_032272 NM_032272

CCDS: CCDS6416

Canonical transcript exons

ENST00000322428 — 8 exons

Exon	Start	End
ENSE00001263687	144106835	144106963
ENSE00001263694	144106555	144106674
ENSE00001263704	144106343	144106464
ENSE00001263712	144106076	144106241
ENSE00001263719	144105869	144105997
ENSE00001315294	144107088	144107611
ENSE00001322217	144105640	144105766
ENSE00004026842	144104461	144104858

Expression profiles

Bgee: expression breadth ubiquitous, 252 present calls, max score 98.77.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 80.9708 / max 474.6309, expressed in 1824 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
91479	42.7644	1818
91480	22.1729	1810
91478	13.3809	1804
91481	1.8984	1131
91482	0.7542	477

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
hindlimb stylopod muscle	UBERON:0004252	98.77	gold quality
gastrocnemius	UBERON:0001388	98.69	gold quality
muscle of leg	UBERON:0001383	98.63	gold quality
lower esophagus muscularis layer	UBERON:0035833	98.54	gold quality
apex of heart	UBERON:0002098	98.53	gold quality
lower esophagus	UBERON:0013473	98.53	gold quality
muscle layer of sigmoid colon	UBERON:0035805	98.41	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	98.38	gold quality
popliteal artery	UBERON:0002250	98.16	gold quality
tibial artery	UBERON:0007610	98.15	gold quality
right coronary artery	UBERON:0001625	98.10	gold quality
mucosa of stomach	UBERON:0001199	97.98	gold quality
aorta	UBERON:0000947	97.81	gold quality
heart left ventricle	UBERON:0002084	97.73	gold quality
left coronary artery	UBERON:0001626	97.66	gold quality
right atrium auricular region	UBERON:0006631	97.64	gold quality
descending thoracic aorta	UBERON:0002345	97.55	gold quality
cardiac ventricle	UBERON:0002082	97.49	gold quality
ileal mucosa	UBERON:0000331	97.47	gold quality
thoracic aorta	UBERON:0001515	97.47	gold quality
ascending aorta	UBERON:0001496	97.44	gold quality
coronary artery	UBERON:0001621	97.43	gold quality
granulocyte	CL:0000094	97.38	gold quality
left ovary	UBERON:0002119	97.37	gold quality
body of uterus	UBERON:0009853	97.37	gold quality
cardiac atrium	UBERON:0002081	97.33	gold quality
ventricular zone	UBERON:0003053	97.27	gold quality
smooth muscle tissue	UBERON:0001135	97.25	gold quality
tibialis anterior	UBERON:0001385	97.21	gold quality
endocervix	UBERON:0000458	97.19	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): MAF

miRNA regulators (miRDB)

31 targeting MAF1, 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-4673	100.00	66.64	1490
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-148A-3P	99.74	73.77	1700
HSA-MIR-148B-3P	99.74	73.75	1700
HSA-MIR-152-3P	99.74	73.75	1703
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-12122	99.56	69.33	1672
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-940	99.37	66.14	2064
HSA-MIR-128-1-5P	99.33	60.46	332
HSA-MIR-128-2-5P	99.33	60.83	311
HSA-MIR-6808-5P	99.31	66.23	2150
HSA-MIR-6893-5P	99.31	66.25	2119
HSA-MIR-3978	99.24	68.39	2201
HSA-MIR-5001-5P	99.05	66.76	1972
HSA-MIR-3190-5P	98.87	64.89	1345
HSA-MIR-1227-5P	98.65	65.32	1549
HSA-MIR-3135B	98.61	65.33	1470
HSA-MIR-3928-5P	98.50	67.48	980
HSA-MIR-6806-3P	98.50	67.31	980
HSA-MIR-127-5P	97.78	67.64	869
HSA-MIR-3652	97.71	65.43	1890
HSA-MIR-4430	97.47	65.61	1813
HSA-MIR-3620-5P	97.42	63.95	792
HSA-MIR-122-5P	97.23	64.92	1024
HSA-MIR-505-5P	97.01	65.54	778

Literature-anchored findings (GeneRIF, showing 22)

• Functional studies of the yeast counterpart. (PMID:11438659)
• Functional studies of the yeast counterpart. (PMID:12504022)
• Maf1 can be co-immunoprecipitated with pol III and associates in vitro with two pol III subunits, the largest subunit RPC1 and the alpha-like subunit RPAC2. Maf1 represses pol III transcription in vitro and in vivo. (PMID:17205138)
• The human Maf1 protein negatively regulates transcription by all three nuclear Pols. Changes in Maf1 expression affect Pol I- and Pol III-dependent transcription in human glioblastoma lines. (PMID:17499043)
• represses RNA polymerase III transcription via TFIIIB, specifically through the TFIIB family members Brf1 and Brf2 (PMID:17505538)
• mTOR inhibition led to an increase in the occupancy of Maf1 on a set of Pol III-dependent genes, with concomitant reduction in the binding of Pol III and Brf1 (PMID:20233713)
• Maf1, a repressor that binds and inhibits pol III, is phosphorylated in a mTOR-dependent manner both in vitro and in vivo at serine 75, a site that contributes to its function as a transcriptional inhibitor. (PMID:20543138)
• Data relate Pol III transcription inhibition to Maf1 structural changes. (PMID:20817737)
• an important role of CK2-mediated Maf1 phosphorylation in triggering Pol III activation. (PMID:21383183)
• The TOR pathway controls another aspect of Pol III transcription that is closely linked to MAF1, as it depends on the presence of MAF1. (PMID:21428925)
• Recovery of RNA polymerase III transcription from the glycerol-repressed state: revisiting the role of protein kinase CK2 in Maf1 phosphoregulation. (PMID:22810236)
• SUMOylation has a role in controlling Maf1 and RNA pol III-mediated transcription (PMID:23673667)
• novel role for Maf1 in suppressing both lipid biogenesis and tumor formation; Maf1 elicits these biological responses through its ability to repress genes that that synthesize lipids and regulate biosynthetic capacity. (PMID:25502566)
• Studies on Maf1 regulation up until now have focused on posttranslational mechanisms, notably phosphorylation, which controls Maf1 localization (in yeast) and its interaction with the polymerase (in yeast and humans) (PMID:25568945)
• MAF1, RNF7 and SETD3 are identified as PCNA-associated proteins in human cells and given this interaction with PCNA, Maf1, RNF7, and SetD3 are potentially involved in DNA replication, DNA repair, or associated processes. (PMID:26030842)
• These results reveal a novel mechanism by which MAF1 and Pol III regulate the activity of the CDKN1A-encoding gene transcribed by Pol II. (PMID:26067234)
• can act as a transcriptional activator for PTEN, which is important for MAF1’s tumor-suppressor function (PMID:26910647)
• Repression of Pol III recruitment and transcription are tightly linked to MAF1, which selectively localizes at Pol III loci, even under serum-replete conditions, and increasingly targets transcribing Pol III in response to serum starvation (PMID:26941251)
• High expression levels of MAF1 homolog, negative regulator of RNA Pol III (MAF1) is associated with advanced tumor depth, lymph node metastasis, distant metastasis and poor prognosis of colorectal cancer (CRC). MAF1 knockdown suppresses chemoresistance and migration of CRC cancer cells. High expression levels of MAF1 is an independent prognostic indicator in microsatellite instabilitypositive CRC. (PMID:30628658)
• results identify the ubiquitin proteasome pathway and CUL2 as important regulators of MAF1 levels; they suggest that decreases in MAF1 protein underlie chemoresistance in HCC and perhaps other cancers and point to an important role for MAF1 and RNA pol III-mediated transcription in chemosensitivity and apoptosis (PMID:31645432)
• Structural basis for RNA polymerase III transcription repression by Maf1 in humans and yeast has been uncovered. (PMID:32066962)
• Maf1 suppression of ATF5-dependent mitochondrial unfolded protein response contributes to rapamycin-induced radio-sensitivity in lung cancer cell line A549. (PMID:33640883)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	maf1b	ENSDARG00000036489
mus_musculus	Maf1	ENSMUSG00000022553
rattus_norvegicus	Maf1	ENSRNOG00000013514
drosophila_melanogaster	Maf1	FBGN0267861
caenorhabditis_elegans	mafr-1	WBGENE00016622

Protein

Protein identifiers

Repressor of RNA polymerase III transcription MAF1 homolog — Q9H063 (reviewed: Q9H063)

All UniProt accessions (5): Q9H063, E9PJ05, E9PR76, E9PSH4, H0YEV4

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in the repression of RNA polymerase III-mediated transcription in response to changing nutritional, environmental and cellular stress conditions to balance the production of highly abundant tRNAs, 5S rRNA, and other small non-coding RNAs with cell growth and maintenance. Also plays a key role in cell fate determination by promoting mesorderm induction and adipocyte differentiation. Mechanistically, associates with the RNA polymerase III clamp and thereby impairs its recruitment to the complex made of the promoter DNA, TBP and the initiation factor TFIIIB. When nutrients are available and mTOR kinase is active, MAF1 is hyperphosphorylated and RNA polymerase III is engaged in transcription. Stress-induced MAF1 dephosphorylation results in nuclear localization, increased targeting of gene-bound RNA polymerase III and a decrease in the transcriptional readout. Additionally, may also regulate RNA polymerase I and RNA polymerase II-dependent transcription through its ability to regulate expression of the central initiation factor TBP.

Subunit / interactions. Interacts with TFIIIB subunits BRF1 and BRF2. Interacts with Pol III subunit POLR3F. Interacts with TFIIIC subunit GTF3C1.

Subcellular location. Nucleus. Cytoplasm.

Post-translational modifications. Phosphorylated at Ser-60, Ser-68 and Ser-75; the major sites of phosphorylation. Nuclear accumulation correlates with a concomitant dephosphorylation. Phosphorylation may attenuate its RNA polymerase III-repressive function. Sumoylated with SUMO1 and SUMO2, mainly on Lys-35. Desumoylated by SENP1. SUMOylation promotes the ability of MAF1 to repress transcription and suppress colony formation.

Similarity. Belongs to the MAF1 family.

RefSeq proteins (1): NP_115648* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR015257	Maf1	Family
IPR038564	Maf1_sf	Homologous_superfamily

Pfam: PF09174

UniProt features (39 total): modified residue 8, mutagenesis site 8, helix 8, strand 6, region of interest 2, turn 2, compositionally biased region 2, chain 1, cross-link 1, sequence variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
3NR5	X-RAY DIFFRACTION	1.55

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H063-F1	78.04	0.52

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 (9): 75, 212, 214, 35, 60, 64, 65, 68, 70

Mutagenesis-validated functional residues (8):

Position	Phenotype
35	no interaction with rna pol iii and impaired recruitment to trna gene promoters.
60	stronger repressive effect on rna polymerase iii transcription; when associated with a-68 and a-75. much stronger repres
60	no change. weaker repressive effect on rna polymerase iii transcription; when associated with d-68 and d-75.
64	much stronger repressive effect on rna polymerase iii transcription and loss of phosphorylation; when associated with a-
68	stronger repressive effect on rna polymerase iii transcription; when associated with a-60 and a-75. much stronger repres
68	no change. weaker repressive effect on rna polymerase iii transcription; when associated with d-60 and d-75.
75	stronger repressive effect on rna polymerase iii transcription. stronger repressive effect on rna polymerase iii transcr
75	no change. weaker repressive effect on rna polymerase iii transcription; when associated with d-60 and d-68.

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-8943724	Regulation of PTEN gene transcription
R-HSA-1257604	PIP3 activates AKT signaling
R-HSA-162582	Signal Transduction
R-HSA-6807070	PTEN Regulation
R-HSA-9006925	Intracellular signaling by second messengers

MSigDB gene sets: 150 (showing top): GOBP_TRANSCRIPTION_BY_RNA_POLYMERASE_III, PATIL_LIVER_CANCER, GOCC_NEURON_PROJECTION, GOMF_SIGNALING_RECEPTOR_BINDING, GTGACTT_MIR224, ACACTCC_MIR122A, GAVIN_FOXP3_TARGETS_CLUSTER_T4, GOCC_SYNAPSE, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, GOCC_INHIBITORY_SYNAPSE, GOCC_SOMATODENDRITIC_COMPARTMENT, GOCC_AXON, NIKOLSKY_BREAST_CANCER_8Q23_Q24_AMPLICON, GOMF_RNA_POLYMERASE_BINDING, GOMF_RNA_POLYMERASE_CORE_ENZYME_BINDING

GO Biological Process (2): negative regulation of transcription by RNA polymerase I (GO:0016479), negative regulation of transcription by RNA polymerase III (GO:0016480)

GO Molecular Function (6): RNA polymerase III core binding (GO:0000994), RNA polymerase III type 1 promoter sequence-specific DNA binding (GO:0001002), RNA polymerase III type 2 promoter sequence-specific DNA binding (GO:0001003), RNA polymerase III type 3 promoter sequence-specific DNA binding (GO:0001006), GABA receptor binding (GO:0050811), protein binding (GO:0005515)

GO Cellular Component (9): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), axon (GO:0030424), dendrite (GO:0030425), perinuclear region of cytoplasm (GO:0048471), inhibitory synapse (GO:0060077)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
PTEN Regulation	1
Intracellular signaling by second messengers	1
PIP3 activates AKT signaling	1
Signal Transduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
RNA polymerase III cis-regulatory region sequence-specific DNA binding	3
negative regulation of DNA-templated transcription	2
cytoplasm	2
neuron projection	2
regulation of transcription by RNA polymerase I	1
transcription by RNA polymerase I	1
regulation of transcription by RNA polymerase III	1
transcription by RNA polymerase III	1
RNA polymerase core enzyme binding	1
5S rDNA binding	1
signaling receptor binding	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
membrane	1
cell periphery	1
dendritic tree	1
synapse	1

Protein interactions and networks

STRING

1242 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MAF1	BDP1	A6H8Y1	936
MAF1	POLR3A	O14802	906
MAF1	POLR1D	P0DPB6	850
MAF1	POLI	Q9UNA4	846
MAF1	POLR3D	P05423	655
MAF1	TBP	P20226	632
MAF1	GTF3C1	Q12789	623
MAF1	MAF	O75444	589
MAF1	RRN3	Q9NYV6	546
MAF1	XPOT	O43592	511
MAF1	POLR3K	Q9Y2Y1	502
MAF1	POLR3B	Q9NW08	490
MAF1	POLR3C	Q9BUI4	488
MAF1	BRAF	P15056	475
MAF1	BRF1	Q92994	473

IntAct

35 interactions, top by confidence:

A	B	Type	Score
MAF1	ARMCX3	psi-mi:“MI:0915”(physical association)	0.710
MTOR	MAF1	psi-mi:“MI:0217”(phosphorylation reaction)	0.620
CSNK2A1	MAF1	psi-mi:“MI:0217”(phosphorylation reaction)	0.590
PCNA	MAF1	psi-mi:“MI:0915”(physical association)	0.580
MAF1	WFS1	psi-mi:“MI:0915”(physical association)	0.560
HTT	MAF1	psi-mi:“MI:0915”(physical association)	0.560
MAF1	POLR3A	psi-mi:“MI:0914”(association)	0.530
CDKN2A	MAF1	psi-mi:“MI:0915”(physical association)	0.370
NUDT3	MAF1	psi-mi:“MI:0915”(physical association)	0.370
CCND3	MAF1	psi-mi:“MI:0915”(physical association)	0.370
CSNK2A1	RPS3A	psi-mi:“MI:0914”(association)	0.350
CSNK2A2	VWA8	psi-mi:“MI:0914”(association)	0.350
POLR1C	BDP1	psi-mi:“MI:0914”(association)	0.350
POLR1D	BDP1	psi-mi:“MI:0914”(association)	0.350
POLR2E	BDP1	psi-mi:“MI:0914”(association)	0.350
POLR2F	BDP1	psi-mi:“MI:0914”(association)	0.350
POLR2H	BDP1	psi-mi:“MI:0914”(association)	0.350
POLR2K	BDP1	psi-mi:“MI:0914”(association)	0.350
POLR3B	BDP1	psi-mi:“MI:0914”(association)	0.350

BioGRID (51): MAF1 (Biochemical Activity), RAD50 (Affinity Capture-MS), TSR3 (Affinity Capture-MS), CSNK1D (Affinity Capture-MS), VCPIP1 (Affinity Capture-MS), ARMCX3 (Affinity Capture-MS), POLR3A (Affinity Capture-MS), POLR3F (Affinity Capture-MS), POLR3B (Affinity Capture-MS), MAF1 (Two-hybrid), MAF1 (Two-hybrid), POLR3F (Affinity Capture-MS), VCPIP1 (Affinity Capture-MS), TSR3 (Affinity Capture-MS), ARMCX3 (Affinity Capture-MS)

ESM2 similar proteins: A5D9C6, A8IYS6, B3MJV4, B4GH42, B4MV81, B4Q9T2, B5E0H4, F1QJX5, O08576, O14109, O60268, P43125, P69735, Q08E29, Q17QK1, Q2HJH8, Q3B7K9, Q3V0G7, Q54Y76, Q59EK9, Q5I0R4, Q5R565, Q5U430, Q5VVW2, Q5XHG1, Q5XIH0, Q68FQ4, Q6NUV0, Q6P7D5, Q6PDC0, Q6PFJ7, Q6PGU2, Q6ZPR5, Q6ZT12, Q757K3, Q7ZWL6, Q8AWD1, Q8BPQ7, Q8CC70, Q8R0A7

Diamond homologs: A5D9C6, O14109, P41910, Q54Y76, Q5XIH0, Q6FIZ7, Q6PGU2, Q757K3, Q7ZWL6, Q9D0U6, Q9H063, Q8STI4, Q8SUU2

SIGNOR signaling

10 interactions.

A	Effect	B	Mechanism
MTOR	down-regulates	MAF1	phosphorylation
mTORC1	down-regulates	MAF1	phosphorylation
MAF1	“down-regulates activity”	“RNA Polymerase III”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 25 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
RNA Polymerase III Chain Elongation	10	264.4×	6e-22
RNA Polymerase III Transcription Termination	10	206.9×	9e-21
RNA Polymerase III Transcription Initiation From Type 2 Promoter	11	193.9×	5e-22
RNA Polymerase III Transcription Initiation From Type 1 Promoter	11	186.9×	5e-22
RNA Polymerase III Transcription Initiation From Type 3 Promoter	11	186.9×	5e-22
RNA Polymerase III Transcription Initiation	11	153.9×	4e-21
RNA Polymerase III Transcription	11	149.6×	5e-21
RNA Polymerase III Abortive And Retractive Initiation	11	127.7×	3e-20

GO biological processes:

GO term	Partners	Fold	FDR
protein stabilization	5	13.9×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	22
Likely benign	4
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	Pathogenic

SpliceAI

1380 predictions. Top by Δscore:

Variant	Effect	Δscore
8:144105631:A:AG	acceptor_gain	1.0000
8:144105635:CCCA:C	acceptor_loss	1.0000
8:144105637:CA:C	acceptor_loss	1.0000
8:144105638:A:AG	acceptor_gain	1.0000
8:144105638:AG:A	acceptor_gain	1.0000
8:144105639:G:GT	acceptor_gain	1.0000
8:144105639:GG:G	acceptor_gain	1.0000
8:144105639:GGC:G	acceptor_gain	1.0000
8:144105639:GGCA:G	acceptor_gain	1.0000
8:144105639:GGCAA:G	acceptor_gain	1.0000
8:144105762:GGCAG:G	donor_gain	1.0000
8:144105763:GCAG:G	donor_gain	1.0000
8:144105763:GCAGG:G	donor_gain	1.0000
8:144105764:C:T	donor_gain	1.0000
8:144105764:CAGG:C	donor_loss	1.0000
8:144105767:G:GG	donor_gain	1.0000
8:144105860:A:AG	acceptor_gain	1.0000
8:144105861:T:G	acceptor_gain	1.0000
8:144105865:ATAG:A	acceptor_gain	1.0000
8:144105866:T:G	acceptor_gain	1.0000
8:144105866:TAGG:T	acceptor_loss	1.0000
8:144105867:A:AG	acceptor_gain	1.0000
8:144105867:AG:A	acceptor_gain	1.0000
8:144105867:AGGAT:A	acceptor_loss	1.0000
8:144105868:G:GC	acceptor_gain	1.0000
8:144105868:GG:G	acceptor_gain	1.0000
8:144105868:GGA:G	acceptor_gain	1.0000
8:144105868:GGAT:G	acceptor_gain	1.0000
8:144105868:GGATT:G	acceptor_gain	1.0000
8:144105982:GAC:G	donor_gain	1.0000

AlphaMissense

1717 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:144105694:T:C	L4S	1.000
8:144105730:T:C	L16P	1.000
8:144105762:G:C	G27R	1.000
8:144105763:G:A	G27D	1.000
8:144105879:T:G	Y32D	1.000
8:144105886:G:A	C34Y	1.000
8:144105888:A:C	K35Q	1.000
8:144105888:A:G	K35E	1.000
8:144105889:A:T	K35M	1.000
8:144105890:G:C	K35N	1.000
8:144105890:G:T	K35N	1.000
8:144105906:A:G	K41E	1.000
8:144105907:A:T	K41I	1.000
8:144105908:A:C	K41N	1.000
8:144105908:A:T	K41N	1.000
8:144106143:T:C	F94L	1.000
8:144106145:C:A	F94L	1.000
8:144106145:C:G	F94L	1.000
8:144106150:T:C	L96P	1.000
8:144106162:T:A	L100H	1.000
8:144106162:T:C	L100P	1.000
8:144106173:T:C	F104L	1.000
8:144106175:C:A	F104L	1.000
8:144106175:C:G	F104L	1.000
8:144106191:T:C	F110L	1.000
8:144106192:T:C	F110S	1.000
8:144106193:C:A	F110L	1.000
8:144106193:C:G	F110L	1.000
8:144106215:T:C	F118L	1.000
8:144106216:T:C	F118S	1.000

dbSNP variants (sampled 300 via entrez): RS1000048438 (8:144104070 G>A,T), RS1000142958 (8:144104206 C>T), RS1000481167 (8:144107419 C>G,T), RS1001144884 (8:144103415 T>C), RS1001681091 (8:144102563 C>G), RS1001774318 (8:144102872 TAGG>T), RS1001808550 (8:144104989 G>T), RS1002644366 (8:144105493 G>A,T), RS1003252858 (8:144104932 G>C,T), RS1003492866 (8:144105926 C>T), RS1003839083 (8:144103786 G>A), RS1003945278 (8:144104000 G>A), RS1004530568 (8:144103544 C>A,G,T), RS1004842683 (8:144102772 T>C), RS1004857782 (8:144103085 G>A)

Disease associations

OMIM: gene MIM:610210 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST009798_65	Asthma	1.000000e-08
GCST010043_161	Asthma	6.000000e-10
GCST012353_35	Serum metabolite concentrations in chronic kidney disease	2.000000e-22

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases expression, affects cotreatment	2
Air Pollutants	affects cotreatment, increases abundance, increases oxidation, affects expression	2
Ozone	affects cotreatment, increases oxidation, increases abundance, affects expression	2
FR900359	decreases phosphorylation	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
beta-lapachone	increases expression	1
coumarin	affects phosphorylation	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
benzyloxycarbonylleucyl-leucyl-leucine aldehyde	affects reaction, affects cotreatment, decreases degradation, increases ubiquitination	1
CGP 52608	affects binding, increases reaction	1
pevonedistat	increases expression	1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	increases expression	1
Bortezomib	decreases reaction, increases degradation	1
Sunitinib	increases expression	1
Acetaminophen	increases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Caffeine	decreases phosphorylation	1
Cisplatin	affects reaction, increases cleavage	1
Cycloheximide	decreases reaction, increases degradation, affects reaction, increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Doxorubicin	affects reaction, increases cleavage	1
Estradiol	decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Oxygen	decreases expression	1
Phthalic Acids	increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Urethane	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B3AI	Abcam HEK293T MAF1 KO	Transformed cell line	Female

Clinical trials (associated diseases)

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