MYT1 myelin transcription factor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYT1provided by HGNC
Official Full Name: myelin transcription factor 1provided by HGNC
Primary source: HGNC:HGNC:7622
See related: Ensembl:ENSG00000196132 MIM:600379; Vega:OTTHUMG00000149988
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: MTF1; MYTI; NZF2; PLPB1; ZC2H2C1; ZC2HC4A; C20orf36
Summary: The protein encoded by this gene is a member of a family of neural specific, zinc finger-containing DNA-binding proteins. The protein binds to the promoter regions of proteolipid proteins of the central nervous system and plays a role in the developing nervous system. [provided by RefSeq, Jul 2008]
Expression: Biased expression in brain (RPKM 4.2), adrenal (RPKM 2.1) and 3 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 20q13.33

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
109	current	GRCh38.p12 (GCF_000001405.38)	20	NC_000020.11 (64164474..64242253)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (62795827..62873606)

Chromosome 20 - NC_000020.11 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 Jun 15 11:32:44 2016

Bibliography

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GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

A novel missense variant affecting function, c.323C>T (p.(Ser108Leu)), was identified in MYT1, in a patient presenting with a severe form of OAVS. MYT1 overexpression downregulated all RA receptors genes in vitro.
Title: A novel de novo mutation in MYT1, the unique OAVS gene identified so far.
although depletion of MYT1 alone did not affect long-term cell growth, it potentiated with DNA damage to inhibit cell growth in clonogenic survival and tumor xenograft models
Title: The CDK1 inhibitory kinase MYT1 in DNA damage checkpoint recovery.
UVA-induced caspase-3 cleavage and DNA fragmentation were suppressed by the knockdown of human Myt1 in skin cancer cells.
Title: c-Jun N-terminal kinase 1 phosphorylates Myt1 to prevent UVA-induced skin cancer.
Observational study of gene-disease association. (HuGE Navigator)
Title: Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study.
present in brain in infancy and prenatally in infants with periventricular leukomalacia
Title: Myelin transcription factor 1 (MyT1) immunoreactivity in infants with periventricular leukomalacia.
These results suggesta potential role for Myt1 in the regeneration of oligodendrocyte lineage cells in response to demyelination.
Title: Myelin transcription factor 1 (Myt1) expression in demyelinated lesions of rodent and human CNS.

Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from BioSystems

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G1 to S cell cycle control, organism-specific biosystem (from WikiPathways)
G1 to S cell cycle control, organism-specific biosystemIn the G1 phase there are two types of DNA damage responses, the p53-dependent and the p53-independent pathways. The p53-dependent responses inhibit CDKs through the up-regulation of genes encoding C...
Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...
Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
MECP2 and Associated Rett Syndrome, organism-specific biosystem (from WikiPathways)
MECP2 and Associated Rett Syndrome, organism-specific biosystemMecp2 is in many mammals an important regulator of neuronal function and development. It affects all cell types, especially neurons but also astrocytes, oligodendrocytes, and glial cells. Mecp2 plays...

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Z94630 (e-PCR)
- UniSTS:35337

RH104288 (e-PCR)
- UniSTS:98613

SHGC-144519 (e-PCR)
- UniSTS:183505

RH10656 (e-PCR)
- UniSTS:4564

Homology

Homologs of the MYT1 gene: The MYT1 gene is conserved in Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 223 organisms have orthologs with human gene MYT1
The Hierarchical Catalog of Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
DNA-binding transcription activator activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info	PubMed
DNA-binding transcription factor activity	NAS Non-traceable Author Statement more info	PubMed
DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
DNA-binding transcription factor activity, RNA polymerase II-specific	ISM Inferred from Sequence Model more info	PubMed
DNA-binding transcription factor activity, RNA polymerase II-specific	NAS Non-traceable Author Statement more info	PubMed
RNA polymerase II regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info	PubMed
zinc ion binding	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
cell differentiation	IEA Inferred from Electronic Annotation more info
negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
nervous system development	IEA Inferred from Electronic Annotation more info
positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
regulation of transcription, DNA-templated	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
cytosol	IDA Inferred from Direct Assay more info
nucleoplasm	IDA Inferred from Direct Assay more info
nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
nucleus	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: myelin transcription factor 1

Names: myelin transcription factor I; neural zinc finger transcription factor 2; proteolipid protein binding 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)

NM_004535.2 → NP_004526.1 myelin transcription factor 1

See identical proteins and their annotated locations for NP_004526.1

Status: REVIEWED

Source sequence(s)

AB020642, BC053638

Consensus CDS

CCDS13558.1

UniProtKB/Swiss-Prot

Q01538

Related

ENSP00000327465.1, OTTHUMP00000031644, ENST00000328439.5, OTTHUMT00000080297

Conserved Domains (3) summary

pfam01530
Location:843 → 869

zf-C2HC; Zinc finger, C2HC type

pfam08474
Location:560 → 791

MYT1; Myelin transcription factor 1

pfam14357
Location:1001 → 1074

DUF4404; Domain of unknown function (DUF4404)