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

Gene ID: 67981, updated on 21-Apr-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 gamete generation; meiotic chromosome segregation; 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 gonad. Orthologous to human HORMAD1 (HORMA domain containing 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis adult (RPKM 6.9) See more
Orthologs
human all
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Genomic context

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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
  • 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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Related articles in PubMed

  1. Multi-color dSTORM microscopy in Hormad1-/- spermatocytes reveals alterations in meiotic recombination intermediates and synaptonemal complex structure. Koornneef L, et al. PLoS Genet, 2022 Jul. PMID 35857787, Free PMC Article
  2. Aberrantly expressed HORMAD1 disrupts nuclear localization of MCM8-MCM9 complex and compromises DNA mismatch repair in cancer cells. Liu K, et al. Cell Death Dis, 2020 Jul 9. PMID 32647118, Free PMC Article
  3. Repair of exogenous DNA double-strand breaks promotes chromosome synapsis in SPO11-mutant mouse meiocytes, and is altered in the absence of HORMAD1. Carofiglio F, et al. DNA Repair (Amst), 2018 Mar. PMID 29414051
  4. Meiotic cohesins mediate initial loading of HORMAD1 to the chromosomes and coordinate SC formation during meiotic prophase. Fujiwara Y, et al. PLoS Genet, 2020 Sep. PMID 32931493, Free PMC Article
  5. A novel mammalian HORMA domain-containing protein, HORMAD1, preferentially associates with unsynapsed meiotic chromosomes. Fukuda T, et al. Exp Cell Res, 2010 Jan 15. PMID 19686734

See all (49) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. HORMAD1 is a critical component of the synaptonemal complex that affects synapsis, recombination, and meiotic sex chromosome inactivation and transcriptional silencing.
    Title: Hormad1 mutation disrupts synaptonemal complex formation, recombination, and chromosome segregation in mammalian meiosis.
Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

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

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 cell differentiation IEA
Inferred from Electronic Annotation
more info
  
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 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

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