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    Hormad1 HORMA domain containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 67981, updated on 12-Nov-2024

    Summary

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    Official Symbol
    Hormad1provided by MGI
    Official Full Name
    HORMA domain containing 1provided by MGI
    Primary source
    MGI:MGI:1915231
    See related
    Ensembl:ENSMUSG00000028109 AllianceGenome:MGI:1915231
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Nohma; 4921522K05Rik
    Summary
    Involved in several processes, including meiosis I cell cycle process; meiotic sister chromatid cohesion; and regulation of cell cycle process. Acts upstream of or within homologous chromosome pairing at meiosis. Located in cytoplasm and synaptonemal complex. Is expressed in several structures, including gonad. Orthologous to human HORMAD1 (HORMA domain containing 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis adult (RPKM 6.9) See more
    Orthologs
    human all
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    Genomic context

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    See Hormad1 in Genome Data Viewer
    Location:
    3 F2.1; 3 40.74 cM
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (95466988..95495174)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (95559677..95587863)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E7927 Neighboring gene predicted gene, 40096 Neighboring gene high mobility group box 1, pseudogene 5 Neighboring gene cathepsin S Neighboring gene STARR-positive B cell enhancer mm9_chr3:95392515-95392816 Neighboring gene predicted gene, 40097 Neighboring gene golgi phosphoprotein 3-like Neighboring gene ribosomal protein S10, pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Differential phosphorylation of two serine clusters in mouse HORMAD1 during meiotic prophase I progression.
      Title: Differential phosphorylation of two serine clusters in mouse HORMAD1 during meiotic prophase I progression.
    2. Multi-color dSTORM microscopy in Hormad1-/- spermatocytes reveals alterations in meiotic recombination intermediates and synaptonemal complex structure.
      Title: Multi-color dSTORM microscopy in Hormad1-/- spermatocytes reveals alterations in meiotic recombination intermediates and synaptonemal complex structure.
    3. Aberrantly expressed HORMAD1 disrupts nuclear localization of MCM8-MCM9 complex and compromises DNA mismatch repair in cancer cells.
      Title: Aberrantly expressed HORMAD1 disrupts nuclear localization of MCM8-MCM9 complex and compromises DNA mismatch repair in cancer cells.
    4. Meiotic cohesins mediate initial loading of HORMAD1 to the chromosomes and coordinate SC formation during meiotic prophase.
      Title: Meiotic cohesins mediate initial loading of HORMAD1 to the chromosomes and coordinate SC formation during meiotic prophase.
    5. We identify, de novo, DNA sequence motifs associated with individual components that define temporally varying modes of gene expression control. Analysis of SDA components also led us to identify a rare population of macrophages within the seminiferous tubules of Mlh3(-/-) and Hormad1(-/-) mice, an area typically associated with immune privilege
      Title: Unified single-cell analysis of testis gene regulation and pathology in five mouse strains.
    6. Exogenous DSBs recruit the meiosis-specific homologous recombination repair machinery, are translocated to the axial elements, contribute to homology recognition, and that their repair is modulated by HORMAD1.
      Title: Repair of exogenous DNA double-strand breaks promotes chromosome synapsis in SPO11-mutant mouse meiocytes, and is altered in the absence of HORMAD1.
    7. that HORMAD1-IHO1 interaction provides a mechanism for the selective promotion of DNA double-strand break formation along unsynapsed chromosome axes
      Title: Meiotic DNA break formation requires the unsynapsed chromosome axis-binding protein IHO1 (CCDC36) in mice.
    8. These results indicate that Hormad1 deficiency promotes DMC1-independent double-strand break repairs, which in turn helps asynaptic Hormad1(-/-) oocytes resist perinatal loss.
      Title: Mouse HORMAD1 is a meiosis i checkpoint protein that modulates DNA double- strand break repair during female meiosis.
    9. By the analysis of Hormad1/Spo11 double mutants, the Hormad1 deficiency was found to abrogate the massive oocyte loss in the Spo11-deficient ovary. The Hormad1 deficiency also causes the eventual loss of pseudo sex body in the Spo11-deficient ovary and testis.
      Title: HORMAD1-dependent checkpoint/surveillance mechanism eliminates asynaptic oocytes.
    10. propose that the synaptonemal complex and HORMAD1 are key components of a negative feedback loop that coordinates meiotic progression with homologue alignment: HORMAD1 promotes homologue alignment and synaptonemal-complex formation
      Title: Meiotic homologue alignment and its quality surveillance are controlled by mouse HORMAD1.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (5)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in blastocyst development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within homologous chromosome pairing at meiosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in meiotic DNA double-strand break formation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in meiotic cell cycle IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    acts_upstream_of_or_within meiotic recombination checkpoint signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in meiotic recombination checkpoint signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in meiotic sister chromatid cohesion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in oogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of homologous chromosome segregation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in spermatogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in synaptonemal complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in condensed nuclear chromosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in synaptonemal complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    HORMA domain-containing protein 1
    Names
    HORMA domain containing protein
    newborn ovary HORMA protein

    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_001289532.1 → NP_001276461.1  HORMA domain-containing protein 1 isoform a

      See identical proteins and their annotated locations for NP_001276461.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AK014945, AK016743, AV259564, AW552644
      Consensus CDS
      CCDS71292.1
      UniProtKB/Swiss-Prot
      Q9CUF3, Q9D473, Q9D5T7
      Related
      ENSMUSP00000029754.7, ENSMUST00000029754.13
      Conserved Domains (1) summary
      pfam02301
      Location:27 → 221
      HORMA; HORMA domain

    2. NM_001289534.1 → NP_001276463.1  HORMA domain-containing protein 1 isoform b

      See identical proteins and their annotated locations for NP_001276463.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a. Variants 2, 3, and 4 all encode the same isoform (b).
      Source sequence(s)
      AK016743, AV259564, AW552644, BC051129
      Consensus CDS
      CCDS38547.1
      UniProtKB/Swiss-Prot
      Q9D5T7
      Related
      ENSMUSP00000102772.2, ENSMUST00000107154.4
      Conserved Domains (1) summary
      pfam02301
      Location:24 → 221
      HORMA; HORMA domain

    3. NM_001289537.1 → NP_001276466.1  HORMA domain-containing protein 1 isoform b

      See identical proteins and their annotated locations for NP_001276466.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a. Variants 2, 3, and 4 all encode the same isoform (b).
      Source sequence(s)
      AK016743, AK163995, BC051129
      Consensus CDS
      CCDS38547.1
      UniProtKB/Swiss-Prot
      Q9D5T7
      Related
      ENSMUSP00000127180.2, ENSMUST00000171191.6
      Conserved Domains (1) summary
      pfam02301
      Location:24 → 221
      HORMA; HORMA domain

    4. NM_001373886.1 → NP_001360815.1  HORMA domain-containing protein 1 isoform a

      Status: VALIDATED

      Source sequence(s)
      AC092203
      UniProtKB/Swiss-Prot
      Q9CUF3, Q9D473, Q9D5T7
      Conserved Domains (1) summary
      pfam02301
      Location:27 → 221
      HORMA; HORMA domain

    5. NM_026489.3 → NP_080765.1  HORMA domain-containing protein 1 isoform b

      See identical proteins and their annotated locations for NP_080765.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, and in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a. Variants 2, 3, and 4 all encode the same isoform (b).
      Source sequence(s)
      AK016743, AV259564, AW552644
      Consensus CDS
      CCDS38547.1
      UniProtKB/Swiss-Prot
      Q9D5T7
      Related
      ENSMUSP00000088303.5, ENSMUST00000090797.11
      Conserved Domains (1) summary
      pfam02301
      Location:24 → 221
      HORMA; HORMA domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000069.7 Reference GRCm39 C57BL/6J

      Range
      95466988..95495174
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D5T7.1 GenPept UniProtKB/Swiss-Prot:Q9D5T7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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