MTURN

Summary

MTURN (maturin, neural progenitor differentiation regulator homolog, HGNC:25457) is a protein-coding gene on chromosome 7p14.3, encoding Maturin (Q8N3F0). Promotes megakaryocyte differentiation by enhancing ERK and JNK signaling as well as up-regulating RUNX1 and FLI1 expression.

Involved in negative regulation of NF-kappaB transcription factor activity; positive regulation of MAPK cascade; and positive regulation of megakaryocyte differentiation. Located in cytoplasm.

Source: NCBI Gene 222166 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 14 total
• MANE Select transcript: NM_152793

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25457
Approved symbol	MTURN
Name	maturin, neural progenitor differentiation regulator homolog
Location	7p14.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ25903, Ells1
Ensembl gene	ENSG00000180354
Ensembl biotype	protein_coding
OMIM	620491
Entrez	222166

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000324453, ENST00000324489, ENST00000409688, ENST00000434060

RefSeq mRNA: 1 — MANE Select: NM_152793 NM_152793

CCDS: CCDS5425

Canonical transcript exons

ENST00000324453 — 3 exons

Exon	Start	End
ENSE00001337393	30146177	30146299
ENSE00001426746	30134986	30135298
ENSE00001427346	30157438	30162762

Expression profiles

Bgee: expression breadth ubiquitous, 247 present calls, max score 99.88.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 42.5953 / max 2379.2461, expressed in 1801 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
77944	42.4433	1801
77952	0.0947	53
77949	0.0401	10
77948	0.0063	4
77950	0.0061	3
77951	0.0048	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
inferior vagus X ganglion	UBERON:0005363	99.88	gold quality
corpus callosum	UBERON:0002336	99.86	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	99.85	gold quality
medial globus pallidus	UBERON:0002477	99.84	gold quality
globus pallidus	UBERON:0001875	99.82	gold quality
subthalamic nucleus	UBERON:0001906	99.80	gold quality
medulla oblongata	UBERON:0001896	99.78	gold quality
spinal cord	UBERON:0002240	99.77	gold quality
pons	UBERON:0000988	99.76	gold quality
substantia nigra	UBERON:0002038	99.75	gold quality
superior vestibular nucleus	UBERON:0007227	99.75	gold quality
midbrain	UBERON:0001891	99.74	gold quality
dorsal plus ventral thalamus	UBERON:0001897	99.74	gold quality
amygdala	UBERON:0001876	99.69	gold quality
Brodmann (1909) area 46	UBERON:0006483	99.69	gold quality
ventral tegmental area	UBERON:0002691	99.67	gold quality
lateral globus pallidus	UBERON:0002476	99.62	gold quality
substantia nigra pars reticulata	UBERON:0001966	99.60	gold quality
parietal lobe	UBERON:0001872	99.57	gold quality
lateral nuclear group of thalamus	UBERON:0002736	99.56	gold quality
hypothalamus	UBERON:0001898	99.55	gold quality
Ammon’s horn	UBERON:0001954	99.54	gold quality
substantia nigra pars compacta	UBERON:0001965	99.54	gold quality
postcentral gyrus	UBERON:0002581	99.54	gold quality
putamen	UBERON:0001874	99.51	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	99.30	gold quality
Brodmann (1909) area 9	UBERON:0013540	99.30	gold quality
right frontal lobe	UBERON:0002810	99.22	gold quality
prefrontal cortex	UBERON:0000451	99.21	gold quality
nucleus accumbens	UBERON:0001882	99.20	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-CURD-119	yes	40.12
E-MTAB-9221	yes	21.39
E-HCAD-10	yes	12.42
E-ANND-3	yes	7.59
E-GEOD-124858	no	49.02

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

130 targeting MTURN, 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-4262	100.00	73.26	3931
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-3162-3P	100.00	65.37	363
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-145-5P	99.92	71.13	1836

Literature-anchored findings (GeneRIF, showing 3)

• High MTURN expression is associated with lung cancer. (PMID:31552488)
• C7ORF41 Regulates Inflammation by Inhibiting NF-kappaB Signaling Pathway. (PMID:33506033)
• PKCalpha/ERK/C7ORF41 axis regulates epidermal keratinocyte differentiation through the IKKalpha nuclear translocation. (PMID:33528492)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	mturn	ENSDARG00000074505
mus_musculus	Mturn	ENSMUSG00000038065
rattus_norvegicus	Mturn	ENSRNOG00000010205

Protein

Protein identifiers

Maturin — Q8N3F0 (reviewed: Q8N3F0)

Alternative names: Maturin neural progenitor differentiation regulator protein homolog, Protein Ells1

All UniProt accessions (3): Q8N3F0, A0A090N8P1, C9JBT1

UniProt curated annotations — full annotation on UniProt →

Function. Promotes megakaryocyte differentiation by enhancing ERK and JNK signaling as well as up-regulating RUNX1 and FLI1 expression. Represses NF-kappa-B transcriptional activity by inhibiting phosphorylation of RELA at ‘Ser-536’. May be involved in early neuronal development.

Subcellular location. Cytoplasm.

Post-translational modifications. Phosphorylation at Tyr-34 is essential for its ability to promote megakaryocyte differentiation.

Induction. Up-regulated by NF-kappa-B RELA/p65. Up-regulated during 12-O-tetradecanoyl phorbol-acetate (TPA)-induced megakaryocytic differentiation of K562 and HEL cells.

Similarity. Belongs to the MTURN family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q8N3F0-1	1	yes
Q8N3F0-2	2
Q8N3F0-3	3
Q8N3F0-4	4

RefSeq proteins (1): NP_690006* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027892	Maturin	Family

Pfam: PF15167

UniProt features (9 total): splice variant 3, chain 1, region of interest 1, compositionally biased region 1, modified residue 1, mutagenesis site 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N3F0-F1	83.28	0.65

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 34

Mutagenesis-validated functional residues (1):

Position	Phenotype
34	loss of ability to promote megakaryocyte differentiation, enhance erk and jnk signaling and up-regulate the expression o

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 182 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, AAGCCAT_MIR135A_MIR135B, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, MARTORIATI_MDM4_TARGETS_NEUROEPITHELIUM_DN, GOBP_REGULATION_OF_HEMOPOIESIS, GOBP_NEGATIVE_REGULATION_OF_NF_KAPPAB_TRANSCRIPTION_FACTOR_ACTIVITY, GOBP_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_MEGAKARYOCYTE_DIFFERENTIATION, GOBP_JNK_CASCADE, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN, GOBP_NEGATIVE_REGULATION_OF_MOLECULAR_FUNCTION, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, GOBP_POSITIVE_REGULATION_OF_MYELOID_CELL_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_MEGAKARYOCYTE_DIFFERENTIATION

GO Biological Process (5): regulation of signaling (GO:0023051), obsolete negative regulation of NF-kappaB transcription factor activity (GO:0032088), positive regulation of megakaryocyte differentiation (GO:0045654), positive regulation of JNK cascade (GO:0046330), positive regulation of ERK1 and ERK2 cascade (GO:0070374)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (1): cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
positive regulation of MAPK cascade	2
signaling	1
regulation of biological process	1
megakaryocyte differentiation	1
positive regulation of myeloid cell differentiation	1
regulation of megakaryocyte differentiation	1
JNK cascade	1
regulation of JNK cascade	1
ERK1 and ERK2 cascade	1
regulation of ERK1 and ERK2 cascade	1
binding	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

482 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MTURN	S4R434	S4R434	474
MTURN	TOPAZ1	Q8N9V7	472
MTURN	GPATCH3	Q96I76	437
MTURN	CLXN	Q9HAE3	434
MTURN	RSPRY1	Q96DX4	415
MTURN	RPL14	P50914	411
MTURN	GARS1	P41250	402
MTURN	TMIGD1	Q6UXZ0	402
MTURN	EAF1	Q96JC9	400
MTURN	SH3BGRL2	Q9UJC5	396
MTURN	PLEKHA8	Q96JA3	387
MTURN	BRD7	Q9NPI1	383
MTURN	CAPN7	Q9Y6W3	380
MTURN	SNX20	Q7Z614	376
MTURN	NKD1	Q969G9	375

IntAct

80 interactions, top by confidence:

A	B	Type	Score
MTURN	RNF216	psi-mi:“MI:0915”(physical association)	0.560
RNF216	MTURN	psi-mi:“MI:0915”(physical association)	0.560
DAZAP2	MTURN	psi-mi:“MI:0915”(physical association)	0.560
MTURN	TRIM8	psi-mi:“MI:0915”(physical association)	0.560
	MTURN	psi-mi:“MI:0915”(physical association)	0.560
TP53BP2	MTURN	psi-mi:“MI:0915”(physical association)	0.560
REL	MTURN	psi-mi:“MI:0915”(physical association)	0.560
TRIM38	MTURN	psi-mi:“MI:0915”(physical association)	0.560
MTURN	TRIM39	psi-mi:“MI:0915”(physical association)	0.560
MTURN	RNF41	psi-mi:“MI:0915”(physical association)	0.560
MTURN	MKRN1	psi-mi:“MI:0915”(physical association)	0.560
MTURN	TMEM239	psi-mi:“MI:0915”(physical association)	0.560
UBA52	MTURN	psi-mi:“MI:0915”(physical association)	0.560
UBB	MTURN	psi-mi:“MI:0915”(physical association)	0.560
MTURN	PLEKHB2	psi-mi:“MI:0915”(physical association)	0.560
MTURN	AP2M1	psi-mi:“MI:0915”(physical association)	0.560
MTURN	TRIM5	psi-mi:“MI:0915”(physical association)	0.560
RPS27A	MTURN	psi-mi:“MI:0915”(physical association)	0.560
UBC	MTURN	psi-mi:“MI:0915”(physical association)	0.560
MTURN	TNFRSF19	psi-mi:“MI:0915”(physical association)	0.560
MTURN	ARRDC1	psi-mi:“MI:0915”(physical association)	0.560
SSX1	MTURN	psi-mi:“MI:0915”(physical association)	0.560
MTURN	SUSD6	psi-mi:“MI:0915”(physical association)	0.560
MTURN	TRAF6	psi-mi:“MI:0915”(physical association)	0.560
MTURN	SPTB	psi-mi:“MI:0914”(association)	0.350
MFSD14A	FAM171A2	psi-mi:“MI:0914”(association)	0.350
MTURN	TRIM8	psi-mi:“MI:0915”(physical association)	0.000
MTURN		psi-mi:“MI:0915”(physical association)	0.000
MTURN	TRAF6	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (35): MTURN (Two-hybrid), MTURN (Two-hybrid), MTURN (Two-hybrid), MTURN (Two-hybrid), MTURN (Two-hybrid), MTURN (Two-hybrid), MTURN (Two-hybrid), MTURN (Two-hybrid), MTURN (Two-hybrid), MTURN (Two-hybrid), MTURN (Two-hybrid), MTURN (Two-hybrid), MTURN (Two-hybrid), MTURN (Two-hybrid), MTURN (Two-hybrid)

ESM2 similar proteins: A0A5F9C6I2, A1L3F5, A2RT67, A4IIA7, A6NHR9, A7MBJ1, A8K855, D3ZXK7, F4JSE7, O08658, O14893, O75165, P0C8M4, P49021, Q0P410, Q3UD82, Q4R5A4, Q568D5, Q5F3F2, Q5R9R1, Q5RC14, Q5VVJ2, Q5XI20, Q5XPI3, Q5XPI4, Q5ZJK1, Q66J91, Q66KJ5, Q69Z66, Q6GPL9, Q7TMY8, Q7TNH6, Q7Z494, Q7Z6Z7, Q7ZX36, Q8BHR8, Q8CDG3, Q8CEC0, Q8CF97, Q8CGA4

Diamond homologs: A7MBJ1, P0C8M4, Q5XI20, Q66KJ5, Q7ZX36, Q8CGA4, Q8N3F0

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
IKK-complex	“down-regulates activity”	MTURN	phosphorylation
MTURN	“down-regulates activity”	IKK-complex	binding
MTURN	“down-regulates activity”	TBK1	binding
CHUK	“down-regulates activity”	MTURN	phosphorylation

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
IRAK2 mediated activation of TAK1 complex upon TLR7/8 or 9 stimulation	5	237.9×	3e-10
NRIF signals cell death from the nucleus	5	223.1×	4e-10
VLDLR internalisation and degradation	5	223.1×	4e-10
TRAF6-mediated induction of TAK1 complex within TLR4 complex	5	223.1×	4e-10
Regulation of NF-kappa B signaling	5	198.3×	7e-10
TICAM1, RIP1-mediated IKK complex recruitment	5	187.8×	9e-10
JNK (c-Jun kinases) phosphorylation and activation mediated by activated human TAK1	5	162.2×	2e-09
activated TAK1 mediates p38 MAPK activation	5	155.2×	2e-09

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of canonical NF-kappaB signal transduction	6	19.8×	3e-05
protein ubiquitination	7	13.2×	3e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	14
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1008 predictions. Top by Δscore:

Variant	Effect	Δscore
7:30135295:TTTT:T	donor_gain	1.0000
7:30135299:G:GG	donor_gain	1.0000
7:30146157:C:A	acceptor_gain	1.0000
7:30146160:C:CA	acceptor_gain	1.0000
7:30146166:T:TA	acceptor_gain	1.0000
7:30146280:TCTTC:T	donor_gain	1.0000
7:30146295:GACCT:G	donor_gain	1.0000
7:30146300:G:GG	donor_gain	1.0000
7:30157433:TGTAG:T	acceptor_loss	1.0000
7:30157434:GTA:G	acceptor_loss	1.0000
7:30157435:TA:T	acceptor_loss	1.0000
7:30157436:A:AG	acceptor_gain	1.0000
7:30157437:G:GC	acceptor_gain	1.0000
7:30157437:GT:G	acceptor_gain	1.0000
7:30157437:GTT:G	acceptor_gain	1.0000
7:30157437:GTTA:G	acceptor_gain	1.0000
7:30157437:GTTAC:G	acceptor_gain	1.0000
7:30157542:GCA:G	donor_gain	1.0000
7:30157545:G:GG	donor_gain	1.0000
7:30157572:A:T	donor_gain	1.0000
7:30135294:ATTTT:A	donor_gain	0.9900
7:30135296:TTT:T	donor_gain	0.9900
7:30135297:TT:T	donor_gain	0.9900
7:30135298:TG:T	donor_loss	0.9900
7:30135299:GTG:G	donor_loss	0.9900
7:30135300:TGAGT:T	donor_loss	0.9900
7:30135301:G:GT	donor_loss	0.9900
7:30135302:AG:A	donor_loss	0.9900
7:30146164:C:A	acceptor_gain	0.9900
7:30146167:G:A	acceptor_gain	0.9900

AlphaMissense

883 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:30135234:T:C	F33S	1.000
7:30146183:T:A	W57R	1.000
7:30146183:T:C	W57R	1.000
7:30146185:G:C	W57C	1.000
7:30146185:G:T	W57C	1.000
7:30146186:A:C	S58R	1.000
7:30146188:T:A	S58R	1.000
7:30146188:T:G	S58R	1.000
7:30146214:T:C	L67S	1.000
7:30135173:T:A	W13R	0.999
7:30135173:T:C	W13R	0.999
7:30135192:T:C	F19S	0.999
7:30135258:T:C	F41S	0.999
7:30135264:T:A	V43E	0.999
7:30146181:T:A	V56E	0.999
7:30146187:G:T	S58I	0.999
7:30146205:T:C	L64P	0.999
7:30146214:T:G	L67W	0.999
7:30146271:T:C	L86P	0.999
7:30135165:C:A	A10E	0.998
7:30135225:G:T	R30M	0.998
7:30135226:G:C	R30S	0.998
7:30135226:G:T	R30S	0.998
7:30135257:T:C	F41L	0.998
7:30135259:C:A	F41L	0.998
7:30135259:C:G	F41L	0.998
7:30146184:G:C	W57S	0.998
7:30146201:T:C	C63R	0.998
7:30146205:T:A	L64Q	0.998
7:30146268:T:A	V85D	0.998

dbSNP variants (sampled 300 via entrez): RS1000085206 (7:30141990 G>A,C), RS1000125907 (7:30158491 T>C), RS1000157190 (7:30158193 C>G,T), RS1000277213 (7:30134717 T>C), RS1000336494 (7:30162070 T>C), RS1000372714 (7:30162346 C>A), RS1000464643 (7:30150294 A>G,T), RS1000484006 (7:30139437 T>G), RS1000561852 (7:30145314 G>A), RS1000591255 (7:30145039 C>G,T), RS1000643988 (7:30134588 C>G), RS1000783139 (7:30157185 C>G), RS1000813029 (7:30133746 A>G), RS1001070860 (7:30153729 A>C,T), RS1001077268 (7:30151610 T>C)

Disease associations

OMIM: gene MIM:620491 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST002936_26	Cadmium levels	1.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases expression, affects cotreatment	2
trichostatin A	affects cotreatment, decreases expression	2
Cisplatin	affects expression, affects cotreatment, increases expression	2
Dexamethasone	increases expression, affects cotreatment	2
Nickel	decreases expression, increases expression	2
Valproic Acid	affects expression, increases expression	2
Cyclosporine	decreases expression	2
Cadmium Chloride	increases abundance, increases expression	2
bisphenol F	affects cotreatment, increases expression	1
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
arsenite	affects binding, increases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
cobaltous chloride	decreases expression	1
isobutyl alcohol	increases abundance, affects cotreatment, decreases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	affects cotreatment, increases expression	1
jinfukang	affects cotreatment, increases expression	1
incobotulinumtoxinA	decreases expression	1
Temozolomide	affects response to substance	1
Decitabine	affects expression	1
Zoledronic Acid	decreases expression	1
Air Pollutants, Occupational	increases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	decreases methylation, affects methylation	1
Cadmium	increases abundance, increases expression	1
Calcitriol	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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