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

Gene ID: 196446, updated on 23-Nov-2021

Summary

Official Symbol
MYRFLprovided by HGNC
Official Full Name
myelin regulatory factor likeprovided by HGNC
Primary source
HGNC:HGNC:26316
See related
Ensembl:ENSG00000166268
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
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:
31
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (69824518..69959097)
105.20201022 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 histone PARylation factor 1 pseudogene Neighboring gene long intergenic non-protein coding RNA 2821

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

Associated conditions

Description Tests
Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.
GeneReviews: Not available

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 transcription, DNA-templated 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 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
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 (4) summary
    pfam05224
    Location:257404
    NDT80_PhoG; NDT80 / PhoG like DNA-binding family
    pfam13884
    Location:451509
    Peptidase_S74; Chaperone of endosialidase
    pfam13887
    Location:530554
    MRF_C1; Myelin gene regulatory factor -C-terminal domain 1
    pfam13888
    Location:781896
    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_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    69824518..69959097
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018971.2XP_016874460.1  myelin regulatory factor-like protein isoform X7

  2. XM_017018974.1XP_016874463.1  myelin regulatory factor-like protein isoform X10

  3. XM_017018975.1XP_016874464.1  myelin regulatory factor-like protein isoform X10

  4. XM_017018976.1XP_016874465.1  myelin regulatory factor-like protein isoform X11

  5. XM_017018972.1XP_016874461.1  myelin regulatory factor-like protein isoform X8

  6. XM_017018968.1XP_016874457.1  myelin regulatory factor-like protein isoform X2

  7. XM_011539052.2XP_011537354.1  myelin regulatory factor-like protein isoform X5

    Conserved Domains (4) summary
    pfam05224
    Location:144291
    NDT80_PhoG; NDT80 / PhoG like DNA-binding family
    pfam13884
    Location:338396
    Peptidase_S74; Chaperone of endosialidase
    pfam13887
    Location:417441
    MRF_C1; Myelin gene regulatory factor -C-terminal domain 1
    pfam13888
    Location:668783
    MRF_C2; Myelin gene regulatory factor C-terminal domain 2
  8. XM_017018970.2XP_016874459.1  myelin regulatory factor-like protein isoform X4

  9. XM_017018967.1XP_016874456.1  myelin regulatory factor-like protein isoform X1

  10. XM_017018969.1XP_016874458.1  myelin regulatory factor-like protein isoform X3

  11. XM_011539055.1XP_011537357.1  myelin regulatory factor-like protein isoform X6

    See identical proteins and their annotated locations for XP_011537357.1

    Conserved Domains (4) summary
    pfam05224
    Location:110257
    NDT80_PhoG; NDT80 / PhoG like DNA-binding family
    pfam13884
    Location:304362
    Peptidase_S74; Chaperone of endosialidase
    pfam13887
    Location:383407
    MRF_C1; Myelin gene regulatory factor -C-terminal domain 1
    pfam13888
    Location:634749
    MRF_C2; Myelin gene regulatory factor C-terminal domain 2
  12. XM_017018973.1XP_016874462.1  myelin regulatory factor-like protein isoform X9

    Conserved Domains (4) summary
    pfam05224
    Location:82229
    NDT80_PhoG; NDT80 / PhoG like DNA-binding family
    pfam13884
    Location:276334
    Peptidase_S74; Chaperone of endosialidase
    pfam13887
    Location:355379
    MRF_C1; Myelin gene regulatory factor -C-terminal domain 1
    pfam13888
    Location:606721
    MRF_C2; Myelin gene regulatory factor C-terminal domain 2

RNA

  1. XR_001748619.2 RNA Sequence

  2. XR_001748620.1 RNA Sequence

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