MYG1 MYG1 exonuclease [Homo sapiens (human)] - Gene

Summary

Official Symbol: MYG1provided by HGNC
Official Full Name: MYG1 exonucleaseprovided by HGNC
Primary source: HGNC:HGNC:17590
See related: Ensembl:ENSG00000139637 MIM:611366; AllianceGenome:HGNC:17590
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: MYG; Gamm1; MST024; MSTP024; C12orf10
Summary: Predicted to enable nuclease activity. Predicted to be involved in nucleic acid phosphodiester bond hydrolysis. Predicted to act upstream of or within locomotory exploration behavior. Located in mitochondrion and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in testis (RPKM 46.7), ovary (RPKM 22.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.13

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (53299695..53307177)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (53265406..53272879)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (53693479..53700961)

Chromosome 12 - NC_000012.12 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?

analysis of the widely conserved dually localized protein Myg1 shows that it has a role as a 3'-5' RNA exonuclease
Title: Myg1 exonuclease couples the nuclear and mitochondrial translational programs through RNA processing.
Significant increase in MYG1 mRNA expression was observed in vitiligo patients compared to controls. The MYG1 mRNA expression was increased in patients with active and generalized vitiligo as compared to stable and localized vitiligo.
Title: Correlation of increased MYG1 expression and its promoter polymorphism with disease progression and higher susceptibility in vitiligo patients.
Observational study of gene-disease association. (HuGE Navigator)
Title: Promoter polymorphism -119C/G in MYG1 (C12orf10) gene is related to vitiligo susceptibility and Arg4Gln affects mitochondrial entrance of Myg1.
Both MYG1 promoter polymorphism and Arg4Gln polymorphism in the mitochondrial signal of Myg1 have an impact on the regulation of the MYG1 gene and promoter polymorphism is related with suspectibility for actively progressing vitiligo.
Title: Promoter polymorphism -119C/G in MYG1 (C12orf10) gene is related to vitiligo susceptibility and Arg4Gln affects mitochondrial entrance of Myg1.
Human and mouse MYG1 is ubiquitously expressed, with the highest level in the testis.
Title: Characterization of MYG1 gene and protein: subcellular distribution and function.
demonstrates possible role of MYG1 in vitiligo
Title: MYG1, novel melanocyte related gene, has elevated expression in vitiligo.

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D12S1190E (e-PCR)
- UniSTS:46161

SHGC-31943 (e-PCR)
- UniSTS:73358

D12S1220E (e-PCR)
- UniSTS:151470

RH15738 (e-PCR)
- UniSTS:44244

RH11320 (e-PCR)
- UniSTS:81405

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info
enables nuclease activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in locomotory exploration behavior	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial matrix	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	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
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: MYG1 exonuclease

Names: UPF0160 protein MYG1, mitochondrial; melanocyte proliferating gene 1; melanocyte related

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_021640.4 → NP_067653.4 MYG1 exonuclease precursor

Status: VALIDATED

Source sequence(s)

AC073611

Consensus CDS

CCDS31810.1

UniProtKB/Swiss-Prot

Q86UA3, Q9HB07

Related

ENSP00000267103.5, ENST00000267103.10

Conserved Domains (1) summary

pfam03690
Location:46 → 366

UPF0160; Uncharacterized protein family (UPF0160)