MTURN maturin, neural progenitor differentiation regulator homolog [Homo sapiens (human)] - Gene

Summary

Official Symbol: MTURNprovided by HGNC
Official Full Name: maturin, neural progenitor differentiation regulator homologprovided by HGNC
Primary source: HGNC:HGNC:25457
See related: Ensembl:ENSG00000180354 MIM:620491; AllianceGenome:HGNC:25457
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Ells1; C7orf41
Summary: Involved in negative regulation of NF-kappaB transcription factor activity; positive regulation of MAPK cascade; and positive regulation of megakaryocyte differentiation. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in brain (RPKM 152.3), fat (RPKM 61.0) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p14.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (30134986..30162762)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (30272637..30300448)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (30174602..30202378)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PKCalpha/ERK/C7ORF41 axis regulates epidermal keratinocyte differentiation through the IKKalpha nuclear translocation.
Title: PKCα/ERK/C7ORF41 axis regulates epidermal keratinocyte differentiation through the IKKα nuclear translocation.
C7ORF41 Regulates Inflammation by Inhibiting NF-kappaB Signaling Pathway.
Title: C7ORF41 Regulates Inflammation by Inhibiting NF-κB Signaling Pathway.
High MTURN expression is associated with lung cancer.
Title: A three-platelet mRNA set: MAX, MTURN and HLA-B as biomarker for lung cancer.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-53497 (e-PCR)
- UniSTS:81678

SHGC-56006 (e-PCR)
- UniSTS:34832

SHGC-31928 (e-PCR)
- UniSTS:12334

RH45883 (e-PCR)
- UniSTS:73541

RH13728 (e-PCR)
- UniSTS:86097

RH28602 (e-PCR)
- UniSTS:85093

STS-H98629 (e-PCR)
- UniSTS:5027

G63258 (e-PCR)
- UniSTS:140227

RH45752 (e-PCR)
- UniSTS:49350

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of NF-kappaB transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of ERK1 and ERK2 cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of JNK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of megakaryocyte differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of megakaryocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of signaling	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: maturin

Names: UPF0452 protein C7orf41; maturin neural progenitor differentiation regulator protein homolog; protein Ells1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.