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

    Gene ID: 150365, updated on 2-Nov-2024

    Summary

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    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 germ cell development; meiotic nuclear division; and meiotic spindle organization. Implicated in gestational trophoblastic neoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    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

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    See MEI1 in Genome Data Viewer
    Location:
    22q13.2
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (41699503..41799454)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (42178481..42278060)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (42095507..42195458)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19125 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:42084352-42084551 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19126 Neighboring gene RNA, U6 small nuclear 476, pseudogene Neighboring gene small nuclear ribonucleoprotein 13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19128 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19127 Neighboring gene CTA-216E10.6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13796 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene10 Neighboring gene RNA, U6atac small nuclear 22, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19129 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19130 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19131 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19133 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42195504-42196490 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13798 Neighboring gene coiled-coil domain containing 134 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19136 Neighboring gene NANOG hESC enhancer GRCh37_chr22:42219786-42220287 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42222133-42222639 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42226556-42227096 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42227097-42227636 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:42228578-42229234 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13800 Neighboring gene SREBF2 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42231025-42231526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42231527-42232026 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:42242468-42243268 Neighboring gene sterol regulatory element binding transcription factor 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:42258655-42259155 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13801 Neighboring gene microRNA 33a

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    Related articles in PubMed

    1. Novel MEI1 mutations cause chromosomal and DNA methylation abnormalities leading to embryonic arrest and implantation failure. Wu X, et al. Mol Genet Genomics, 2024 Feb 28. PMID 38416203
    2. Bi-allelic MEI1 variants cause meiosis arrest and non-obstructive azoospermia. Zhang Y, et al. J Hum Genet, 2023 Jun. PMID 36759719
    3. Novel biallelic mutations in MEI1: expanding the phenotypic spectrum to human embryonic arrest and recurrent implantation failure. Dong J, et al. Hum Reprod, 2021 Jul 19. PMID 34037756
    4. A MEI1 homozygous missense mutation associated with meiotic arrest in a consanguineous family. Ben Khelifa M, et al. Hum Reprod, 2018 Jun 1. PMID 29659827
    5. Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest. Sato H, et al. J Hum Genet, 2006. PMID 16683055

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. Bi-allelic MEI1 variants cause meiosis arrest and non-obstructive azoospermia.
      Title: Bi-allelic MEI1 variants cause meiosis arrest and non-obstructive azoospermia.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    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

    Associated conditions

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC40042

    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.

    mRNA and Protein(s)

    1. NM_152513.4 → NP_689726.3  meiosis inhibitor protein 1

      See identical proteins and their annotated locations for NP_689726.3

      Status: VALIDATED

      Source sequence(s)
      AK092934, AK094461, BC025400, BC070111, Z83840
      Consensus CDS
      CCDS46718.1
      UniProtKB/Swiss-Prot
      B7Z745, Q1XAP1, Q1XAP2, Q5TIA1, Q8IYJ5, Q8N5K5, Q8N9H3, Q8TC68
      Related
      ENSP00000384115.3, ENST00000401548.8

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      41699503..41799454
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011529945.4 → XP_011528247.1  meiosis inhibitor protein 1 isoform X1

    2. XM_011529939.3 → XP_011528241.1  meiosis inhibitor protein 1 isoform X7

    3. XM_011529936.3 → XP_011528238.1  meiosis inhibitor protein 1 isoform X3

    4. XM_011529941.3 → XP_011528243.1  meiosis inhibitor protein 1 isoform X9

    5. XM_017028633.3 → XP_016884122.1  meiosis inhibitor protein 1 isoform X4

    6. XM_011529944.3 → XP_011528246.1  meiosis inhibitor protein 1 isoform X12

    7. XM_011529937.3 → XP_011528239.1  meiosis inhibitor protein 1 isoform X5

    8. XM_011529940.3 → XP_011528242.1  meiosis inhibitor protein 1 isoform X8

    9. XM_011529943.3 → XP_011528245.1  meiosis inhibitor protein 1 isoform X11

    10. XM_011529935.3 → XP_011528237.1  meiosis inhibitor protein 1 isoform X2

    11. XM_011529946.3 → XP_011528248.1  meiosis inhibitor protein 1 isoform X13

    12. XM_011529947.3 → XP_011528249.1  meiosis inhibitor protein 1 isoform X14

    13. XM_011529938.3 → XP_011528240.1  meiosis inhibitor protein 1 isoform X6

    14. XM_047441160.1 → XP_047297116.1  meiosis inhibitor protein 1 isoform X15

    15. XM_024452164.2 → XP_024307932.1  meiosis inhibitor protein 1 isoform X20

    16. XM_047441162.1 → XP_047297118.1  meiosis inhibitor protein 1 isoform X21

    17. XM_011529950.2 → XP_011528252.1  meiosis inhibitor protein 1 isoform X19

    18. XM_011529955.2 → XP_011528257.1  meiosis inhibitor protein 1 isoform X24

    19. XM_011529956.3 → XP_011528258.1  meiosis inhibitor protein 1 isoform X25

    20. XM_011529942.4 → XP_011528244.1  meiosis inhibitor protein 1 isoform X10

    21. XM_047441161.1 → XP_047297117.1  meiosis inhibitor protein 1 isoform X17

    22. XM_011529949.3 → XP_011528251.1  meiosis inhibitor protein 1 isoform X18

    23. XM_011529948.4 → XP_011528250.1  meiosis inhibitor protein 1 isoform X16

    24. XM_011529952.3 → XP_011528254.1  meiosis inhibitor protein 1 isoform X22

    25. XM_011529954.3 → XP_011528256.1  meiosis inhibitor protein 1 isoform X23

    26. XM_047441163.1 → XP_047297119.1  meiosis inhibitor protein 1 isoform X26

    RNA

    1. XR_937820.2 RNA Sequence

    2. XR_937819.2 RNA Sequence

    3. XR_007067959.1 RNA Sequence

      Related
      ENST00000540833.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      42178481..42278060
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325157.1 → XP_054181132.1  meiosis inhibitor protein 1 isoform X1

    2. XM_054325163.1 → XP_054181138.1  meiosis inhibitor protein 1 isoform X7

    3. XM_054325159.1 → XP_054181134.1  meiosis inhibitor protein 1 isoform X3

    4. XM_054325165.1 → XP_054181140.1  meiosis inhibitor protein 1 isoform X9

    5. XM_054325160.1 → XP_054181135.1  meiosis inhibitor protein 1 isoform X4

    6. XM_054325168.1 → XP_054181143.1  meiosis inhibitor protein 1 isoform X12

    7. XM_054325161.1 → XP_054181136.1  meiosis inhibitor protein 1 isoform X5

    8. XM_054325164.1 → XP_054181139.1  meiosis inhibitor protein 1 isoform X8

    9. XM_054325167.1 → XP_054181142.1  meiosis inhibitor protein 1 isoform X11

    10. XM_054325158.1 → XP_054181133.1  meiosis inhibitor protein 1 isoform X2

    11. XM_054325170.1 → XP_054181145.1  meiosis inhibitor protein 1 isoform X13

    12. XM_054325171.1 → XP_054181146.1  meiosis inhibitor protein 1 isoform X14

    13. XM_054325162.1 → XP_054181137.1  meiosis inhibitor protein 1 isoform X6

    14. XM_054325172.1 → XP_054181147.1  meiosis inhibitor protein 1 isoform X15

    15. XM_054325177.1 → XP_054181152.1  meiosis inhibitor protein 1 isoform X20

    16. XM_054325178.1 → XP_054181153.1  meiosis inhibitor protein 1 isoform X21

    17. XM_054325176.1 → XP_054181151.1  meiosis inhibitor protein 1 isoform X19

    18. XM_054325181.1 → XP_054181156.1  meiosis inhibitor protein 1 isoform X24

    19. XM_054325182.1 → XP_054181157.1  meiosis inhibitor protein 1 isoform X25

    20. XM_054325166.1 → XP_054181141.1  meiosis inhibitor protein 1 isoform X10

    21. XM_054325174.1 → XP_054181149.1  meiosis inhibitor protein 1 isoform X17

    22. XM_054325169.1 → XP_054181144.1  meiosis inhibitor protein 1 isoform X27

    23. XM_054325175.1 → XP_054181150.1  meiosis inhibitor protein 1 isoform X18

    24. XM_054325173.1 → XP_054181148.1  meiosis inhibitor protein 1 isoform X16

    25. XM_054325179.1 → XP_054181154.1  meiosis inhibitor protein 1 isoform X22

    26. XM_054325180.1 → XP_054181155.1  meiosis inhibitor protein 1 isoform X23

    27. XM_054325183.1 → XP_054181158.1  meiosis inhibitor protein 1 isoform X26

    RNA

    1. XR_008485370.1 RNA Sequence

    2. XR_008485369.1 RNA Sequence

    3. XR_008485371.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5TIA1.2 GenPept UniProtKB/Swiss-Prot:Q5TIA1

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