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    MEIOSIN meiosis initiator [ Homo sapiens (human) ]

    Gene ID: 388553, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MEIOSINprovided by HGNC
    Official Full Name
    meiosis initiatorprovided by HGNC
    Primary source
    HGNC:HGNC:44318
    See related
    Ensembl:ENSG00000237452 AllianceGenome:HGNC:44318
    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
    BHMG1; HMGDC
    Summary
    Predicted to enable DNA binding activity and protein dimerization activity. Predicted to be involved in several processes, including activation of meiosis; cellular response to retinoic acid; and regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 3.0) See more
    Orthologs
    mouse all
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    Genomic context

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    See MEIOSIN in Genome Data Viewer
    Location:
    19q13.32
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (45733439..45764541)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (48560985..48592076)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (46236697..46267799)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:46196081-46196631 Neighboring gene glutaminyl-peptide cyclotransferase like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14814 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46220214-46220884 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46220885-46221555 Neighboring gene F-box protein 46 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:46223908-46224408 Neighboring gene Sharpr-MPRA regulatory regions 3721 and 14243 Neighboring gene Sharpr-MPRA regulatory region 6016 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14816 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14817 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46250835-46251627 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46266800-46267354 Neighboring gene origin of replication in DMPK trinucleotide repeat region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46270229-46270864 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46270929-46271488 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10794 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10795 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14819 Neighboring gene dystrophia myotonica protein kinase repeat instability region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10796 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14820 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10797 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46274849-46275406 Neighboring gene SIX homeobox 5 Neighboring gene DM1 locus antisense RNA Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46280233-46280966 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10798 Neighboring gene DM1 protein kinase

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Homozygous missense variant in MEIOSIN causes premature ovarian insufficiency. Zhang Q, et al. Hum Reprod, 2023 Nov 20. PMID 37982418
    2. Pinstripe: a suite of programs for integrating transcriptomic and proteomic datasets identifies novel proteins and improves differentiation of protein-coding and non-coding genes. Gascoigne DK, et al. Bioinformatics, 2012 Dec 1. PMID 23044541
    3. MEIOSIN Directs the Switch from Mitosis to Meiosis in Mammalian Germ Cells. Ishiguro KI, et al. Dev Cell, 2020 Feb 24. PMID 32032549

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Homozygous missense variant in MEIOSIN causes premature ovarian insufficiency.
      Title: Homozygous missense variant in MEIOSIN causes premature ovarian insufficiency.
    Submit: New GeneRIF Correction

    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)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in activation of meiosis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cellular response to retinoic acid ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in meiotic cell cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in oogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    meiosis initiator protein
    Names
    HMG domain containing
    basic helix-loop-helix and HMG box domain containing 1
    basic helix-loop-helix and HMG box domain-containing protein 1
    basic helix-loop-helix and HMG-box containing 1

    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_001310124.2 → NP_001297053.1  meiosis initiator protein

      See identical proteins and their annotated locations for NP_001297053.1

      Status: VALIDATED

      Source sequence(s)
      AC074212, BI463439, BQ215245, DV080302
      Consensus CDS
      CCDS82368.1
      UniProtKB/Swiss-Prot
      C9JSJ3
      Related
      ENSP00000402674.3, ENST00000457052.3
      Conserved Domains (1) summary
      cl00082
      Location:541 → 600
      HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      45733439..45764541
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527571.3 → XP_011525873.1  meiosis initiator protein isoform X1

      Conserved Domains (1) summary
      cl00082
      Location:547 → 606
      HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...

    2. XM_011527574.3 → XP_011525876.1  meiosis initiator protein isoform X3

      Conserved Domains (1) summary
      cl00082
      Location:512 → 571
      HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...

    3. XM_011527573.4 → XP_011525875.1  meiosis initiator protein isoform X2

      Conserved Domains (1) summary
      cl00082
      Location:529 → 588
      HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      48560985..48592076
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320960.1 → XP_054176935.1  meiosis initiator protein isoform X1

    2. XM_054320962.1 → XP_054176937.1  meiosis initiator protein isoform X3

    3. XM_054320961.1 → XP_054176936.1  meiosis initiator protein isoform X2

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_038267.1: Suppressed sequence

      Description
      NR_038267.1: This RefSeq was permanently suppressed because it is now thought that this gene does encode a protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    C9JSJ3.2 GenPept UniProtKB/Swiss-Prot:C9JSJ3

    Gene LinkOut

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