MYRFL myelin regulatory factor like [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYRFLprovided by HGNC
Official Full Name: myelin regulatory factor likeprovided by HGNC
Primary source: HGNC:HGNC:26316
See related: Ensembl:ENSG00000166268 AllianceGenome:HGNC:26316
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: bcm1377; C12orf15; C12orf28
Summary: Predicted to enable DNA-binding transcription factor activity and sequence-specific DNA binding activity. Predicted to be involved in positive regulation of transcription, DNA-templated and protein autoprocessing. Predicted to be integral component of membrane. Predicted to be active in endoplasmic reticulum membrane and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in duodenum (RPKM 4.6), small intestine (RPKM 4.6) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 12q15

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (69825227..69959097)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (69804361..69938372)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (70219007..70352877)

Chromosome 12 - NC_000012.12 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?

By characterization of the exact DNA-binding requirements of Myrf, we furthermore show that cooperative activation is a consequence of joint binding of Sox10 and Myrf to the same regulatory regions.
Title: Myrf guides target gene selection of transcription factor Sox10 during oligodendroglial development.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

RH45527 (e-PCR)
- UniSTS:42078

D12S8 (e-PCR)
- UniSTS:149876

D12S1705 (e-PCR)
- UniSTS:63916

SHGC-106548 (e-PCR)
- UniSTS:169944

D12S1693 (e-PCR), detects polymorphism
- UniSTS:35036

RH119861 (e-PCR)
- UniSTS:133606

SHGC-105776 (e-PCR)
- UniSTS:169462

NoName (e-PCR)
- UniSTS:485369

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in positive regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein autoprocessing	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: myelin regulatory factor-like protein

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.

mRNA and Protein(s)

NM_182530.3 → NP_872336.2 myelin regulatory factor-like protein

See identical proteins and their annotated locations for NP_872336.2

Status: VALIDATED

Source sequence(s)

AC025263, AC078922, AK057785, BC101820, BG187742, EG328354

Consensus CDS

CCDS76577.1

UniProtKB/Swiss-Prot

Q96LU7

UniProtKB/TrEMBL

F8VVR8

Related

ENSP00000448753.2, ENST00000552032.7

Conserved Domains (3) summary

pfam05224
Location:257 → 404

NDT80_PhoG; NDT80 / PhoG like DNA-binding family

cl16452
Location:451 → 552

Peptidase_S74_CIMCD; Peptidase S74 family, C-terminal intramolecular chaperone domain of Escherichia coli phage K1F endosialidase and related proteins

pfam13888
Location:781 → 896

MRF_C2; Myelin gene regulatory factor C-terminal domain 2