MEI1 meiotic double-stranded break formation protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MEI1provided by HGNC
Official Full Name: meiotic double-stranded break formation protein 1provided by HGNC
Primary source: HGNC:HGNC:28613
See related: Ensembl:ENSG00000167077 MIM:608797; AllianceGenome:HGNC:28613
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: HYDM3; SPATA38
Summary: Predicted to be involved in meiosis I. Predicted to act upstream of or within gamete generation; meiotic spindle organization; and meiotic telomere clustering. Implicated in gestational trophoblastic neoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in testis (RPKM 5.5), spleen (RPKM 2.0) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.2

Exon count:: 36

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (41699503..41799454)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (42178481..42278060)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (42095507..42195458)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Novel MEI1 mutations cause chromosomal and DNA methylation abnormalities leading to embryonic arrest and implantation failure.
Title: Novel MEI1 mutations cause chromosomal and DNA methylation abnormalities leading to embryonic arrest and implantation failure.
Bi-allelic MEI1 variants cause meiosis arrest and non-obstructive azoospermia.
Title: Bi-allelic MEI1 variants cause meiosis arrest and non-obstructive azoospermia.
Novel biallelic mutations in MEI1: expanding the phenotypic spectrum to human embryonic arrest and recurrent implantation failure.
Title: Novel biallelic mutations in MEI1: expanding the phenotypic spectrum to human embryonic arrest and recurrent implantation failure.
we report on a homozygous missense mutation in the gene coding for meiotic double-stranded break formation protein 1 observed in two brothers with non-obstructive azoospermia and meiotic arrest. A fertile brother was heterozygous for the mutation. All the queried databases predicted that this mutation is damaging, and it has previously been reported that Mei1 knock-out is associated with meiotic arrest in a murine model.
Title: A MEI1 homozygous missense mutation associated with meiotic arrest in a consanguineous family.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
MEI1 may play a role in meiosis during spermatogenesis, especially in European Americans.
Title: Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest.

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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
Hydatidiform mole, recurrent, 3 MedGen: C5193093 OMIM: 618431 GeneReviews: Not available	Compare labs

Variation

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See studies and variants in dbVar

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-67307 (e-PCR)
- UniSTS:89991

RH74961 (e-PCR)
- UniSTS:86922

D11S3114 (e-PCR)
- UniSTS:152207

RH104199 (e-PCR)
- UniSTS:98524

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in meiosis I	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: meiosis inhibitor protein 1

Names: meiosis defective 1; meiosis defective protein 1; meiosis inhibitor 1; spermatogenesis associated 38

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.