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MYRF myelin regulatory factor [ Homo sapiens (human) ]

Gene ID: 745, updated on 23-Nov-2021

Summary

Official Symbol
MYRFprovided by HGNC
Official Full Name
myelin regulatory factorprovided by HGNC
Primary source
HGNC:HGNC:1181
See related
Ensembl:ENSG00000124920 MIM:608329
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MRF; CUGS; MMERV; Ndt80; 11orf9; pqn-47; C11orf9
Summary
This gene encodes a transcription factor that is required for central nervous system myelination and may regulate oligodendrocyte differentiation. It is thought to act by increasing the expression of genes that effect myelin production but may also directly promote myelin gene expression. Loss of a similar gene in mouse models results in severe demyelination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Expression
Biased expression in stomach (RPKM 32.1), brain (RPKM 26.8) and 11 other tissues See more
Orthologs
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Genomic context

See MYRF in Genome Data Viewer
Location:
11q12.2
Exon count:
29
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (61752617..61788518)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (61520108..61555990)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein lateral stalk subunit P0 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 11353 Neighboring gene diacylglycerol lipase alpha Neighboring gene MYRF antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 5973 Neighboring gene transmembrane protein 258 Neighboring gene microRNA 611 Neighboring gene flap structure-specific endonuclease 1

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available
Cardiac-urogenital syndrome
MedGen: C4748946 OMIM: 618280 GeneReviews: Not available
Compare labs
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization
MedGen: C4722446 OMIM: 618113 GeneReviews: Not available
Compare labs
Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.
GeneReviews: Not available
Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk.
GeneReviews: Not available

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of chromosome 11 open reading frame 9 (C11orf9) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0954, MGC10781

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 DNA-binding transcription factor activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 
enables peptidase activity IEA
Inferred from Electronic Annotation
more info
 
enables sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in central nervous system myelin maintenance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in central nervous system myelin maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in central nervous system myelination ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in oligodendrocyte development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in oligodendrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of myelination ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein autoprocessing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein autoprocessing ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
myelin regulatory factor
Names
myelin gene regulatory factor

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.

Genomic

  1. NG_047038.1 RefSeqGene

    Range
    5000..40882
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001127392.3NP_001120864.1  myelin regulatory factor isoform 2 precursor

    See identical proteins and their annotated locations for NP_001120864.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks a 5' exon and uses an alternate 5' terminal exon, compared to variant 1. It encodes isoform 2 which is longer and has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AB023171, AI366703, AP002380, HY145048, HY148147
    Consensus CDS
    CCDS44622.1
    UniProtKB/Swiss-Prot
    Q9Y2G1
    Related
    ENSP00000278836.4, ENST00000278836.10
    Conserved Domains (4) summary
    pfam05224
    Location:393540
    NDT80_PhoG; NDT80 / PhoG like DNA-binding family
    pfam13884
    Location:587647
    Peptidase_S74; Chaperone of endosialidase
    pfam13887
    Location:667702
    MRF_C1; Myelin gene regulatory factor -C-terminal domain 1
    pfam13888
    Location:10161147
    MRF_C2; Myelin gene regulatory factor C-terminal domain 2
  2. NM_013279.4NP_037411.1  myelin regulatory factor isoform 1

    See identical proteins and their annotated locations for NP_037411.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AB023171, AF086762, AI366703, AP002380
    Consensus CDS
    CCDS31579.1
    UniProtKB/Swiss-Prot
    Q9Y2G1
    Related
    ENSP00000265460.5, ENST00000265460.9
    Conserved Domains (4) summary
    pfam05224
    Location:384531
    NDT80_PhoG; NDT80 / PhoG like DNA-binding family
    pfam13884
    Location:578638
    Peptidase_S74; Chaperone of endosialidase
    pfam13887
    Location:658693
    MRF_C1; Myelin gene regulatory factor -C-terminal domain 1
    pfam13888
    Location:9761107
    MRF_C2; Myelin gene regulatory factor C-terminal domain 2

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    61752617..61788518
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545234.2XP_011543536.1  myelin regulatory factor isoform X9

    Conserved Domains (4) summary
    pfam05224
    Location:192339
    NDT80_PhoG; NDT80 / PhoG like DNA-binding family
    pfam13884
    Location:386446
    Peptidase_S74; Chaperone of endosialidase
    pfam13887
    Location:466501
    MRF_C1; Myelin gene regulatory factor -C-terminal domain 1
    pfam13888
    Location:816947
    MRF_C2; Myelin gene regulatory factor C-terminal domain 2
  2. XM_005274222.1XP_005274279.1  myelin regulatory factor isoform X1

    Conserved Domains (4) summary
    pfam05224
    Location:393540
    NDT80_PhoG; NDT80 / PhoG like DNA-binding family
    pfam13884
    Location:587647
    Peptidase_S74; Chaperone of endosialidase
    pfam13887
    Location:667702
    MRF_C1; Myelin gene regulatory factor -C-terminal domain 1
    pfam13888
    Location:10171148
    MRF_C2; Myelin gene regulatory factor C-terminal domain 2
  3. XM_005274223.1XP_005274280.1  myelin regulatory factor isoform X2

    Conserved Domains (4) summary
    pfam05224
    Location:393540
    NDT80_PhoG; NDT80 / PhoG like DNA-binding family
    pfam13884
    Location:587647
    Peptidase_S74; Chaperone of endosialidase
    pfam13887
    Location:667702
    MRF_C1; Myelin gene regulatory factor -C-terminal domain 1
    pfam13888
    Location:10121143
    MRF_C2; Myelin gene regulatory factor C-terminal domain 2
  4. XM_005274224.1XP_005274281.1  myelin regulatory factor isoform X3

    Conserved Domains (4) summary
    pfam05224
    Location:393540
    NDT80_PhoG; NDT80 / PhoG like DNA-binding family
    pfam13884
    Location:587647
    Peptidase_S74; Chaperone of endosialidase
    pfam13887
    Location:667702
    MRF_C1; Myelin gene regulatory factor -C-terminal domain 1
    pfam13888
    Location:10111142
    MRF_C2; Myelin gene regulatory factor C-terminal domain 2
  5. XM_005274225.1XP_005274282.1  myelin regulatory factor isoform X4

    Conserved Domains (4) summary
    pfam05224
    Location:393540
    NDT80_PhoG; NDT80 / PhoG like DNA-binding family
    pfam13884
    Location:587647
    Peptidase_S74; Chaperone of endosialidase
    pfam13887
    Location:667702
    MRF_C1; Myelin gene regulatory factor -C-terminal domain 1
    pfam13888
    Location:9901121
    MRF_C2; Myelin gene regulatory factor C-terminal domain 2
  6. XM_005274227.1XP_005274284.1  myelin regulatory factor isoform X6

    See identical proteins and their annotated locations for XP_005274284.1

    Conserved Domains (4) summary
    pfam05224
    Location:393540
    NDT80_PhoG; NDT80 / PhoG like DNA-binding family
    pfam13884
    Location:587647
    Peptidase_S74; Chaperone of endosialidase
    pfam13887
    Location:667702
    MRF_C1; Myelin gene regulatory factor -C-terminal domain 1
    pfam13888
    Location:9851116
    MRF_C2; Myelin gene regulatory factor C-terminal domain 2
  7. XM_005274226.1XP_005274283.1  myelin regulatory factor isoform X5

    Conserved Domains (4) summary
    pfam05224
    Location:393540
    NDT80_PhoG; NDT80 / PhoG like DNA-binding family
    pfam13884
    Location:587647
    Peptidase_S74; Chaperone of endosialidase
    pfam13887
    Location:667702
    MRF_C1; Myelin gene regulatory factor -C-terminal domain 1
    pfam13888
    Location:9891120
    MRF_C2; Myelin gene regulatory factor C-terminal domain 2
  8. XM_005274228.1XP_005274285.1  myelin regulatory factor isoform X7

    Conserved Domains (4) summary
    pfam05224
    Location:342489
    NDT80_PhoG; NDT80 / PhoG like DNA-binding family
    pfam13884
    Location:536596
    Peptidase_S74; Chaperone of endosialidase
    pfam13887
    Location:616651
    MRF_C1; Myelin gene regulatory factor -C-terminal domain 1
    pfam13888
    Location:9661097
    MRF_C2; Myelin gene regulatory factor C-terminal domain 2
  9. XM_024448677.1XP_024304445.1  myelin regulatory factor isoform X8

    Related
    ENSP00000502795.1, ENST00000675319.1
    Conserved Domains (4) summary
    pfam05224
    Location:246393
    NDT80_PhoG; NDT80 / PhoG like DNA-binding family
    pfam13884
    Location:440500
    Peptidase_S74; Chaperone of endosialidase
    pfam13887
    Location:520555
    MRF_C1; Myelin gene regulatory factor -C-terminal domain 1
    pfam13888
    Location:8701001
    MRF_C2; Myelin gene regulatory factor C-terminal domain 2
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