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

Gene ID: 196446, updated on 22-Sep-2022

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
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Genomic context

See MYRFL in Genome Data Viewer
Location:
12q15
Exon count:
25
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (69825227..69959097)
110 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_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369823 Neighboring gene bestrophin 3 Neighboring gene uncharacterized LOC101928002 Neighboring gene RAB3A interacting protein Neighboring gene uncharacterized LOC124902959 Neighboring gene histone PARylation factor 1 pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25056, MGC126869

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in positive regulation of DNA-templated transcription IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein autoprocessing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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)

  1. NM_182530.3NP_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
    Related
    ENSP00000448753.2, ENST00000552032.7
    Conserved Domains (3) summary
    pfam05224
    Location:257404
    NDT80_PhoG; NDT80 / PhoG like DNA-binding family
    cl16452
    Location:451552
    Peptidase_S74_CIMCD; Peptidase S74 family, C-terminal intramolecular chaperone domain of Escherichia coli phage K1F endosialidase and related proteins
    pfam13888
    Location:781896
    MRF_C2; Myelin gene regulatory factor C-terminal domain 2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    69825227..69959097
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    69804361..69938372
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)