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

    Gene ID: 196446, updated on 5-Mar-2024

    Summary

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    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

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    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_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369823 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:70082106-70083305 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:70083432-70084000 Neighboring gene bestrophin 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:70087234-70087434 Neighboring gene uncharacterized LOC101928002 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4654 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:70153303-70153894 Neighboring gene RAB3A interacting protein Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_30842 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_30867 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:70272467-70273004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:70273005-70273542 Neighboring gene MPRA-validated peak1788 silencer Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:70289930-70290500 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:70290501-70291069 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6656 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:70325891-70326586 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:70332766-70333393 Neighboring gene MPRA-validated peak1789 silencer Neighboring gene MPRA-validated peak1793 silencer Neighboring gene MPRA-validated peak1794 silencer Neighboring gene uncharacterized LOC124902959 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:70463098-70463693 Neighboring gene OCT4 hESC enhancer GRCh37_chr12:70484701-70485202 Neighboring gene MPRA-validated peak1795 silencer Neighboring gene histone PARylation factor 1 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Myrf guides target gene selection of transcription factor Sox10 during oligodendroglial development. Aprato J, et al. Nucleic Acids Res, 2020 Feb 20. PMID 31828317, Free PMC Article
    2. Rab11-FIP1 and Rab11-FIP5 Regulate pIgR/pIgA Transcytosis through TRIM21-Mediated Polyubiquitination. Fan X, et al. Int J Mol Sci, 2021 Sep 28. PMID 34638806, Free PMC Article
    3. Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study. Anney RJ, et al. Am J Med Genet B Neuropsychiatr Genet, 2008 Dec 5. PMID 18951430
    4. Creation of genome-wide protein expression libraries using random activation of gene expression. Harrington JJ, et al. Nat Biotechnol, 2001 May. PMID 11329013
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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
    		  
    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)

    1. 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96LU7.2 GenPept UniProtKB/Swiss-Prot:Q96LU7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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