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

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; AllianceGenome:HGNC:1181
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: mouse all
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Genomic context

Location:: 11q12.2

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (61752636..61788518)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (61741556..61777435)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (61520108..61555990)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Two sisters with cardiac-urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism?
Title: Two sisters with cardiac-urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism?
Truncation mutations in MYRF underlie primary angle closure glaucoma.
Title: Truncation mutations in MYRF underlie primary angle closure glaucoma.
Evaluation of MYRF as a candidate gene for primary angle closure glaucoma.
Title: Evaluation of MYRF as a candidate gene for primary angle closure glaucoma.
Functional mechanisms of MYRF DNA-binding domain mutations implicated in birth defects.
Title: Functional mechanisms of MYRF DNA-binding domain mutations implicated in birth defects.
MYRF: A Mysterious Membrane-Bound Transcription Factor Involved in Myelin Development and Human Diseases.
Title: MYRF: A Mysterious Membrane-Bound Transcription Factor Involved in Myelin Development and Human Diseases.
Common Myelin Regulatory Factor Gene Variants Predisposing to Excellence in Sports.
Title: Common Myelin Regulatory Factor Gene Variants Predisposing to Excellence in Sports.
The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.
Title: The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.
Pancreatic Cancer Cells Require the Transcription Factor MYRF to Maintain ER Homeostasis.
Title: Pancreatic Cancer Cells Require the Transcription Factor MYRF to Maintain ER Homeostasis.
Functional mechanism and pathogenic potential of MYRF ICA domain mutations implicated in birth defects.
Title: Functional mechanism and pathogenic potential of MYRF ICA domain mutations implicated in birth defects.
results underline the importance of including SLC18A3 sequencing in the differential diagnostics of fetuses with arthrogryposis, FADS, or LMPS of unknown etiology
Title: Review of the phenotypic spectrum associated with haploinsufficiency of MYRF.

Submit: New GeneRIF Correction See all GeneRIFs (23)

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

Associated conditions

Description	Tests
Cardiac-urogenital syndrome MedGen: C4748946 OMIM: 618280 GeneReviews: MYRF-Related Cardiac Urogenital Syndrome	Compare labs
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization MedGen: C4722446 OMIM: 618113 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. 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)

HIV-1 interactions

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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

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH48140 (e-PCR)
- UniSTS:81706

RH36061 (e-PCR)
- UniSTS:46649

D11S2300E (e-PCR)
- UniSTS:11341

RH78968 (e-PCR)
- UniSTS:24679

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 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

Process	Evidence Code	Pubs
involved_in central nervous system myelin maintenance	IBA Inferred from Biological aspect of Ancestor more info
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 DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of DNA-templated transcription	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 oligodendrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in protein autoprocessing	IBA Inferred from Biological aspect of Ancestor more info
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
involved_in response to cocaine	IEA Inferred from Electronic Annotation more info
involved_in response to immobilization stress	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
located_in endoplasmic reticulum membrane	ISS Inferred from Sequence or Structural Similarity 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
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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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

NG_047038.1 RefSeqGene

Range

5000..40882

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001127392.3 → NP_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

O43582, Q9P1Q6, Q9Y2G1

UniProtKB/TrEMBL

A0A6Q8PHM1

Related

ENSP00000278836.4, ENST00000278836.10

Conserved Domains (4) summary

pfam05224
Location:393 → 540

NDT80_PhoG; NDT80 / PhoG like DNA-binding family

pfam13884
Location:587 → 647

Peptidase_S74; Chaperone of endosialidase

pfam13887
Location:667 → 702

MRF_C1; Myelin gene regulatory factor -C-terminal domain 1

pfam13888
Location:1016 → 1147

MRF_C2; Myelin gene regulatory factor C-terminal domain 2
NM_013279.4 → NP_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/TrEMBL

A0A6Q8PHM1

Related

ENSP00000265460.5, ENST00000265460.9

Conserved Domains (4) summary

pfam05224
Location:384 → 531

NDT80_PhoG; NDT80 / PhoG like DNA-binding family

pfam13884
Location:578 → 638

Peptidase_S74; Chaperone of endosialidase

pfam13887
Location:658 → 693

MRF_C1; Myelin gene regulatory factor -C-terminal domain 1

pfam13888
Location:976 → 1107

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

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

61752636..61788518

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005274222.2 → XP_005274279.1 myelin regulatory factor isoform X1

UniProtKB/TrEMBL

A0A6Q8PHM1

Conserved Domains (4) summary

pfam05224
Location:393 → 540

NDT80_PhoG; NDT80 / PhoG like DNA-binding family

pfam13884
Location:587 → 647

Peptidase_S74; Chaperone of endosialidase

pfam13887
Location:667 → 702

MRF_C1; Myelin gene regulatory factor -C-terminal domain 1

pfam13888
Location:1017 → 1148

MRF_C2; Myelin gene regulatory factor C-terminal domain 2
XM_005274223.2 → XP_005274280.1 myelin regulatory factor isoform X2

UniProtKB/TrEMBL

A0A6Q8PHM1

Conserved Domains (4) summary

pfam05224
Location:393 → 540

NDT80_PhoG; NDT80 / PhoG like DNA-binding family

pfam13884
Location:587 → 647

Peptidase_S74; Chaperone of endosialidase

pfam13887
Location:667 → 702

MRF_C1; Myelin gene regulatory factor -C-terminal domain 1

pfam13888
Location:1012 → 1143

MRF_C2; Myelin gene regulatory factor C-terminal domain 2
XM_005274224.2 → XP_005274281.1 myelin regulatory factor isoform X3

UniProtKB/TrEMBL

A0A6Q8PHM1

Conserved Domains (4) summary

pfam05224
Location:393 → 540

NDT80_PhoG; NDT80 / PhoG like DNA-binding family

pfam13884
Location:587 → 647

Peptidase_S74; Chaperone of endosialidase

pfam13887
Location:667 → 702

MRF_C1; Myelin gene regulatory factor -C-terminal domain 1

pfam13888
Location:1011 → 1142

MRF_C2; Myelin gene regulatory factor C-terminal domain 2
XM_005274225.2 → XP_005274282.1 myelin regulatory factor isoform X4

UniProtKB/TrEMBL

A0A6Q8PHM1

Conserved Domains (4) summary

pfam05224
Location:393 → 540

NDT80_PhoG; NDT80 / PhoG like DNA-binding family

pfam13884
Location:587 → 647

Peptidase_S74; Chaperone of endosialidase

pfam13887
Location:667 → 702

MRF_C1; Myelin gene regulatory factor -C-terminal domain 1

pfam13888
Location:990 → 1121

MRF_C2; Myelin gene regulatory factor C-terminal domain 2
XM_005274227.2 → XP_005274284.1 myelin regulatory factor isoform X6

See identical proteins and their annotated locations for XP_005274284.1

UniProtKB/TrEMBL

A0A6Q8PHM1

Conserved Domains (4) summary

pfam05224
Location:393 → 540

NDT80_PhoG; NDT80 / PhoG like DNA-binding family

pfam13884
Location:587 → 647

Peptidase_S74; Chaperone of endosialidase

pfam13887
Location:667 → 702

MRF_C1; Myelin gene regulatory factor -C-terminal domain 1

pfam13888
Location:985 → 1116

MRF_C2; Myelin gene regulatory factor C-terminal domain 2
XM_005274226.2 → XP_005274283.1 myelin regulatory factor isoform X5

UniProtKB/TrEMBL

A0A6Q8PHM1

Conserved Domains (4) summary

pfam05224
Location:393 → 540

NDT80_PhoG; NDT80 / PhoG like DNA-binding family

pfam13884
Location:587 → 647

Peptidase_S74; Chaperone of endosialidase

pfam13887
Location:667 → 702

MRF_C1; Myelin gene regulatory factor -C-terminal domain 1

pfam13888
Location:989 → 1120

MRF_C2; Myelin gene regulatory factor C-terminal domain 2
XM_047427526.1 → XP_047283482.1 myelin regulatory factor isoform X7
XM_005274228.2 → XP_005274285.1 myelin regulatory factor isoform X8

UniProtKB/TrEMBL

A0A6Q8PHM1

Conserved Domains (4) summary

pfam05224
Location:342 → 489

NDT80_PhoG; NDT80 / PhoG like DNA-binding family

pfam13884
Location:536 → 596

Peptidase_S74; Chaperone of endosialidase

pfam13887
Location:616 → 651

MRF_C1; Myelin gene regulatory factor -C-terminal domain 1

pfam13888
Location:966 → 1097

MRF_C2; Myelin gene regulatory factor C-terminal domain 2
XM_047427528.1 → XP_047283484.1 myelin regulatory factor isoform X10
XM_047427527.1 → XP_047283483.1 myelin regulatory factor isoform X9
XM_047427529.1 → XP_047283485.1 myelin regulatory factor isoform X11
XM_047427531.1 → XP_047283487.1 myelin regulatory factor isoform X13
XM_047427533.1 → XP_047283489.1 myelin regulatory factor isoform X15
XM_047427532.1 → XP_047283488.1 myelin regulatory factor isoform X14
XM_047427534.1 → XP_047283490.1 myelin regulatory factor isoform X16
XM_047427530.1 → XP_047283486.1 myelin regulatory factor isoform X12
XM_047427535.1 → XP_047283491.1 myelin regulatory factor isoform X17
XM_024448677.2 → XP_024304445.1 myelin regulatory factor isoform X18

UniProtKB/TrEMBL

A0A6Q8PHM1

Conserved Domains (4) summary

pfam05224
Location:246 → 393

NDT80_PhoG; NDT80 / PhoG like DNA-binding family

pfam13884
Location:440 → 500

Peptidase_S74; Chaperone of endosialidase

pfam13887
Location:520 → 555

MRF_C1; Myelin gene regulatory factor -C-terminal domain 1

pfam13888
Location:870 → 1001

MRF_C2; Myelin gene regulatory factor C-terminal domain 2
XM_047427536.1 → XP_047283492.1 myelin regulatory factor isoform X19
XM_047427537.1 → XP_047283493.1 myelin regulatory factor isoform X20
XM_047427538.1 → XP_047283494.1 myelin regulatory factor isoform X21
XM_011545234.3 → XP_011543536.1 myelin regulatory factor isoform X22

UniProtKB/TrEMBL

A0A6Q8PHM1

Related

ENSP00000502795.1, ENST00000675319.1

Conserved Domains (4) summary

pfam05224
Location:192 → 339

NDT80_PhoG; NDT80 / PhoG like DNA-binding family

pfam13884
Location:386 → 446

Peptidase_S74; Chaperone of endosialidase

pfam13887
Location:466 → 501

MRF_C1; Myelin gene regulatory factor -C-terminal domain 1

pfam13888
Location:816 → 947

MRF_C2; Myelin gene regulatory factor C-terminal domain 2