Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	222166
Gene name	Maturin, neural progenitor differentiation regulator homolog
Gene symbol	MTURN
Synonyms (NCBI Gene)	C7orf41Ells1
Chromosome	7
Chromosome location	7p14.3

Show/Hide all (52)

miRTarBase ID	miRNA	Experiments	Reference
MIRT740270	hsa-miR-8485	HITS-CLIP	19536157
MIRT740271	hsa-miR-329-3p	HITS-CLIP	19536157
MIRT740272	hsa-miR-362-3p	HITS-CLIP	19536157
MIRT740273	hsa-miR-603	HITS-CLIP	19536157
MIRT740274	hsa-miR-130b-5p	HITS-CLIP	19536157
MIRT740275	hsa-miR-3941	HITS-CLIP	19536157
MIRT740276	hsa-miR-4789-5p	HITS-CLIP	19536157
MIRT740270	hsa-miR-8485	HITS-CLIP	23824327
MIRT740271	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT740272	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT740273	hsa-miR-603	HITS-CLIP	23824327
MIRT741674	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT741675	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT741676	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT740274	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT740275	hsa-miR-3941	HITS-CLIP	23824327
MIRT740276	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT741677	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT740270	hsa-miR-8485	HITS-CLIP	23824327
MIRT740271	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT740272	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT740273	hsa-miR-603	HITS-CLIP	23824327
MIRT741675	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT741676	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT740274	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT740275	hsa-miR-3941	HITS-CLIP	23824327
MIRT740276	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT741677	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT742259	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT742260	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT742261	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT740270	hsa-miR-8485	HITS-CLIP	23824327
MIRT740271	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT740272	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT740273	hsa-miR-603	HITS-CLIP	23824327
MIRT741674	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT741675	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT741676	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT740274	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT740275	hsa-miR-3941	HITS-CLIP	23824327
MIRT740276	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT741677	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT740270	hsa-miR-8485	HITS-CLIP	23824327
MIRT740271	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT740272	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT740273	hsa-miR-603	HITS-CLIP	23824327
MIRT741675	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT741676	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT740274	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT740275	hsa-miR-3941	HITS-CLIP	23824327
MIRT740276	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT741677	hsa-miR-6873-3p	HITS-CLIP	23824327

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	24681962
GO:0005737	Component	Cytoplasm	IEA
GO:0023051	Process	Regulation of signaling	IBA
GO:0032088	Process	Negative regulation of NF-kappaB transcription factor activity	IMP	24681962
GO:0045654	Process	Positive regulation of megakaryocyte differentiation	IBA
GO:0045654	Process	Positive regulation of megakaryocyte differentiation	IEA
GO:0045654	Process	Positive regulation of megakaryocyte differentiation	IMP	24681962
GO:0046330	Process	Positive regulation of JNK cascade	IMP	24681962
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IMP	24681962

MIM	HGNC	e!Ensembl
620491	25457	ENSG00000180354

Q8N3F0

Protein name

Maturin (Maturin neural progenitor differentiation regulator protein homolog) (Protein Ells1)

Protein function

Promotes megakaryocyte differentiation by enhancing ERK and JNK signaling as well as up-regulating RUNX1 and FLI1 expression (PubMed:24681962). Represses NF-kappa-B transcriptional activity by inhibiting phosphorylation of RELA at 'Ser-536' (Pub

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15167	DUF4581	4 → 131	Domain of unknown function (DUF4581)	Family

Sequence

MDFQQLADVAEKWCSNTPFELIATEETERRMDFYADPGVSFYVLCPDNGCGDNFHVWSES
EDCLPFLQLAQDYISSCGKKTLHEVLEKVFKSFRPLLGLPDADDDAFEEYSADVEEEEPE
ADHPQMGVSQQ

Sequence length

131

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
DENTAL CARIES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

MTURN (maturin, neural progenitor differentiation regulator homolog)