MND1 meiotic nuclear divisions 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MND1provided by HGNC
Official Full Name: meiotic nuclear divisions 1provided by HGNC
Primary source: HGNC:HGNC:24839
See related: Ensembl:ENSG00000121211 MIM:611422; AllianceGenome:HGNC:24839
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: GAJ
Summary: The product of the MND1 gene associates with HOP2 (MIM 608665) to form a stable heterodimeric complex that binds DNA and stimulates the recombinase activity of RAD51 (MIM 179617) and DMC1 (MIM 602721) (Chi et al., 2007 [PubMed 17639080]). Both the MND1 and HOP2 genes are indispensable for meiotic recombination.[supplied by OMIM, Mar 2008]
Expression: Broad expression in testis (RPKM 3.9), lymph node (RPKM 2.6) and 15 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4q31.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (153344649..153415118)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (156669078..156739559)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (154265801..154336270)

Chromosome 4 - NC_000004.12 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?

MND1 functions as a potential prognostic biomarker associated with cell cycle and immune infiltration in kidney renal clear cell carcinoma.
Title: MND1 functions as a potential prognostic biomarker associated with cell cycle and immune infiltration in kidney renal clear cell carcinoma.
Genetic network and gene set enrichment analyses identify MND1 as potential diagnostic and therapeutic target gene for lung adenocarcinoma.
Title: Genetic network and gene set enrichment analyses identify MND1 as potential diagnostic and therapeutic target gene for lung adenocarcinoma.
Meiotic nuclear divisions 1 (MND1) fuels cell cycle progression by activating a KLF6/E2F1 positive feedback loop in lung adenocarcinoma.
Title: Meiotic nuclear divisions 1 (MND1) fuels cell cycle progression by activating a KLF6/E2F1 positive feedback loop in lung adenocarcinoma.
Assuming the mouse model accurately reflects the impact of this variant in humans, rs140107488 appears to be a benign allele that can be eliminated or de-prioritized in clinical genomic analyses of infertility patients.
Title: A predicted deleterious allele of the essential meiosis gene MND1, present in ~ 3% of East Asians, does not disrupt reproduction in mice.
Data indicate that the positive expression of studied genes fertilization rate for GAPDHS positive subset was 66%, ACR - 71%, SPATA22 - 68%, MND1 - 70%, pregnancy rates were 8%, 6%, 18% and 36% respectively.
Title: Expression analysis of MND1/GAJ, SPATA22, GAPDHS and ACR genes in testicular biopsies from non-obstructive azoospermia (NOA) patients.
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.
Data suggest that the human TBPIP/Hop2-Mnd1 complex may ensure proper pairing between homologous chromosomes through its stimulation of strand exchange during meiosis.
Title: Stimulation of DNA strand exchange by the human TBPIP/Hop2-Mnd1 complex.

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Phenotypes

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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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of meiotic nuclear divisions 1 homolog (MND1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables double-stranded DNA binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in homologous chromosome pairing at meiosis	IDA Inferred from Direct Assay more info	PubMed
involved_in reciprocal meiotic recombination	IBA Inferred from Biological aspect of Ancestor more info
involved_in reciprocal meiotic recombination	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: meiotic nuclear division protein 1 homolog

Names: homolog of yeast MND1; meiotic nuclear divisions 1 homolog

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_001253861.1 → NP_001240790.1 meiotic nuclear division protein 1 homolog isoform 2

See identical proteins and their annotated locations for NP_001240790.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AA542845, BG613292, BM820228, BU533354

Consensus CDS

CCDS75202.1

UniProtKB/TrEMBL

A0A087WTC6, D6RCT6

Related

ENSP00000477758.1, ENST00000622785.4

Conserved Domains (1) summary

pfam03962
Location:17 → 119

Mnd1; Mnd1 family
NM_032117.4 → NP_115493.1 meiotic nuclear division protein 1 homolog isoform 1

See identical proteins and their annotated locations for NP_115493.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AA542845, AC013477, AK312172, BM820228, BU533354

Consensus CDS

CCDS3782.1

UniProtKB/Swiss-Prot

B2R5F9, Q9BWT6

Related

ENSP00000240488.3, ENST00000240488.8

Conserved Domains (1) summary

pfam03962
Location:17 → 202

Mnd1; Mnd1 family

RNA

NR_045605.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) includes two alternate internal exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AA542845, AC013477, BF975093, BG758047, BU533354

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_000004.12 Reference GRCh38.p14 Primary Assembly

Range

153344649..153415118

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005263275.3 → XP_005263332.1 meiotic nuclear division protein 1 homolog isoform X1

See identical proteins and their annotated locations for XP_005263332.1

Conserved Domains (2) summary

COG5124
Location:5 → 189

COG5124; Protein predicted to be involved in meiotic recombination [Cell division and chromosome partitioning / General function prediction only]

pfam03962
Location:16 → 187

Mnd1; Mnd1 family
XM_047416247.1 → XP_047272203.1 meiotic nuclear division protein 1 homolog isoform X3
XM_047416246.1 → XP_047272202.1 meiotic nuclear division protein 1 homolog isoform X2

UniProtKB/TrEMBL

D6RIA0

Related

ENSP00000427559.1, ENST00000509752.5

Alternate T2T-CHM13v2.0

Genomic

NC_060928.1 Alternate T2T-CHM13v2.0

Range

156669078..156739559

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054350970.1 → XP_054206945.1 meiotic nuclear division protein 1 homolog isoform X1
XM_054350971.1 → XP_054206946.1 meiotic nuclear division protein 1 homolog isoform X3