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    HORMAD1 HORMA domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 84072, updated on 28-Oct-2024

    Summary

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    Official Symbol
    HORMAD1provided by HGNC
    Official Full Name
    HORMA domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:25245
    See related
    Ensembl:ENSG00000143452 MIM:609824; AllianceGenome:HGNC:25245
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CT46; NOHMA
    Summary
    This gene encodes a HORMA domain-containing protein. HORMA domains are involved in chromatin binding and play a role in cell cycle regulation. The encoded protein may play a role in meiosis, and expression of this gene is a potential marker for cancer. A pseudogene of this gene is located on the long arm of chromosome 6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
    Expression
    Restricted expression toward testis (RPKM 50.3) See more
    Orthologs
    mouse all
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    Genomic context

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    See HORMAD1 in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (150698060..150720895, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (149822136..149844650, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (150670536..150693371, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150601815-150602782 Neighboring gene uncharacterized LOC112268239 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150602783-150603752 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:150606865-150607490 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150607491-150608116 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150608117-150608742 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150608743-150609367 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:150610512-150611128 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150613593-150614208 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:150619341-150619842 Neighboring gene golgi phosphoprotein 3 like Neighboring gene RNA, U6 small nuclear 1042, pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150700761-150701526 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150703034 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150703366 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150707596 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150709723 Neighboring gene cathepsin S Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150721175 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150721583-150722232 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150727539 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150728676 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1698 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1699 Neighboring gene melanoma risk locus-associated MPRA allelic enhancers 1:150738197 and 1:150738200 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1305 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 1:150748803 Neighboring gene short coiled-coil protein pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:150753350-150754207 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:150754208-150755064

    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. The cancer testes antigen, HORMAD1, limits genomic instability in cancer cells by protecting stalled replication forks. Herrera LR, et al. J Biol Chem, 2023 Nov. PMID 37838177, Free PMC Article
    2. Expression of HORMAD1 in Chronic Rhinosinusitis and Its Correlation with Inflammatory Factors. Zhang X, et al. J Coll Physicians Surg Pak, 2024 Jan. PMID 38185961
    3. Biological significance of HORMA domain containing protein 1 (HORMAD1) in epithelial ovarian carcinoma. Shahzad MM, et al. Cancer Lett, 2013 Apr 28. PMID 22776561, Free PMC Article
    4. Genomic Complexity Profiling Reveals That HORMAD1 Overexpression Contributes to Homologous Recombination Deficiency in Triple-Negative Breast Cancers. Watkins J, et al. Cancer Discov, 2015 May. PMID 25770156, Free PMC Article
    5. Single-nucleotide polymorphisms in HORMAD1 may be a risk factor for azoospermia caused by meiotic arrest in Japanese patients. Miyamoto T, et al. Asian J Androl, 2012 Jul. PMID 22407170, Free PMC Article

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Expression of HORMAD1 in Chronic Rhinosinusitis and Its Correlation with Inflammatory Factors.
      Title: Expression of HORMAD1 in Chronic Rhinosinusitis and Its Correlation with Inflammatory Factors.
    2. Structural and biochemical insights into the interaction mechanism underlying HORMAD1 and its partner proteins.
      Title: Structural and biochemical insights into the interaction mechanism underlying HORMAD1 and its partner proteins.
    3. The cancer testes antigen, HORMAD1, limits genomic instability in cancer cells by protecting stalled replication forks.
      Title: The cancer testes antigen, HORMAD1, limits genomic instability in cancer cells by protecting stalled replication forks.
    4. Ectopically Expressed Meiosis-Specific Cancer Testis Antigen HORMAD1 Promotes Genomic Instability in Squamous Cell Carcinomas.
      Title: Ectopically Expressed Meiosis-Specific Cancer Testis Antigen HORMAD1 Promotes Genomic Instability in Squamous Cell Carcinomas.
    5. A biallelic loss of function variant in HORMAD1 within a large consanguineous Turkish family is associated with spermatogenic arrest.
      Title: A biallelic loss of function variant in HORMAD1 within a large consanguineous Turkish family is associated with spermatogenic arrest.
    6. HORMAD1 promotes docetaxel resistance in triple negative breast cancer by enhancing DNA damage tolerance.
      Title: HORMAD1 promotes docetaxel resistance in triple negative breast cancer by enhancing DNA damage tolerance.
    7. HORMAD1-dependent DSB repair as a new mechanism of radioresistance and a probable determinant of mutability in lung adenocarcinoma.
      Title: The Cancer/Testes (CT) Antigen HORMAD1 promotes Homologous Recombinational DNA Repair and Radioresistance in Lung adenocarcinoma cells.
    8. HORMAD1 expression specifies a novel subtype of lung adenocarcinoma, which has adapted to mitigate DNA damage
      Title: HORMAD1 Is a Negative Prognostic Indicator in Lung Adenocarcinoma and Specifies Resistance to Oxidative and Genotoxic Stress.
    9. Four sterility-related genes, including BOLL, DDX4, HORMAD1, and MAEL, were found to have increased methylation at CpGs of the promoter regions and decreased mRNA expressions in nonobstructive azoospermia and hypospermatogenesis (HS) testis and are believed to be associated with HS.
      Title: Causes and Clinical Features of Infertile Men With Nonobstructive Azoospermia and Histopathologic Diagnosis of Hypospermatogenesis.
    10. Genomic Complexity Profiling Reveals That HORMAD1 Overexpression Contributes to Homologous Recombination Deficiency in Triple-Negative Breast Cancers
      Title: Genomic Complexity Profiling Reveals That HORMAD1 Overexpression Contributes to Homologous Recombination Deficiency in Triple-Negative Breast Cancers.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment.
    EBI GWAS Catalog

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp434A1315

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in blastocyst development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in meiotic DNA double-strand break formation 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 meiotic recombination checkpoint signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in meiotic sister chromatid cohesion 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 homologous chromosome segregation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in spermatogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in synaptonemal complex assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in chromosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in synaptonemal complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    HORMA domain-containing protein 1
    Names
    cancer/testis antigen 46
    newborn ovary HORMA protein
    testis tissue sperm-binding protein Li 86P

    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_001199829.2 → NP_001186758.1  HORMA domain-containing protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001186758.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AA991355, AL136755, AL356292, BU570274
      Consensus CDS
      CCDS55633.1
      UniProtKB/Swiss-Prot
      Q86X24
      Related
      ENSP00000326489.7, ENST00000322343.11
      Conserved Domains (1) summary
      pfam02301
      Location:23 → 213
      HORMA; HORMA domain

    2. NM_032132.5 → NP_115508.2  HORMA domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_115508.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA991355, AL356292, BC047406, BU570274
      Consensus CDS
      CCDS967.1
      UniProtKB/Swiss-Prot
      A6NMK2, B3KUK1, Q4G114, Q5T5I3, Q5T5I4, Q5T5I5, Q6FIC1, Q86X24, Q9H0K8
      UniProtKB/TrEMBL
      A0A140VKG9
      Related
      ENSP00000355167.2, ENST00000361824.7
      Conserved Domains (1) summary
      pfam02301
      Location:26 → 220
      HORMA; HORMA domain

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      150698060..150720895 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431838.1 → XP_047287794.1  HORMA domain-containing protein 1 isoform X8

    2. XM_047431826.1 → XP_047287782.1  HORMA domain-containing protein 1 isoform X5

    3. XM_047431814.1 → XP_047287770.1  HORMA domain-containing protein 1 isoform X3

    4. XM_047431843.1 → XP_047287799.1  HORMA domain-containing protein 1 isoform X8

    5. XM_047431828.1 → XP_047287784.1  HORMA domain-containing protein 1 isoform X5

    6. XM_047431810.1 → XP_047287766.1  HORMA domain-containing protein 1 isoform X2

    7. XM_047431808.1 → XP_047287764.1  HORMA domain-containing protein 1 isoform X1

      UniProtKB/Swiss-Prot
      A6NMK2, B3KUK1, Q4G114, Q5T5I3, Q5T5I4, Q5T5I5, Q6FIC1, Q86X24, Q9H0K8
      UniProtKB/TrEMBL
      A0A140VKG9

    8. XM_047431836.1 → XP_047287792.1  HORMA domain-containing protein 1 isoform X7

    9. XM_047431831.1 → XP_047287787.1  HORMA domain-containing protein 1 isoform X6

      Related
      ENSP00000357991.4, ENST00000368995.8

    10. XM_047431845.1 → XP_047287801.1  HORMA domain-containing protein 1 isoform X9

    11. XM_011510054.3 → XP_011508356.1  HORMA domain-containing protein 1 isoform X4

      Conserved Domains (1) summary
      pfam02301
      Location:23 → 220
      HORMA; HORMA domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      149822136..149844650 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339080.1 → XP_054195055.1  HORMA domain-containing protein 1 isoform X10

    2. XM_054339079.1 → XP_054195054.1  HORMA domain-containing protein 1 isoform X8

    3. XM_054339072.1 → XP_054195047.1  HORMA domain-containing protein 1 isoform X2

    4. XM_054339071.1 → XP_054195046.1  HORMA domain-containing protein 1 isoform X1

    5. XM_054339077.1 → XP_054195052.1  HORMA domain-containing protein 1 isoform X6

    6. XM_054339078.1 → XP_054195053.1  HORMA domain-containing protein 1 isoform X7

    7. XM_054339081.1 → XP_054195056.1  HORMA domain-containing protein 1 isoform X9

    8. XM_054339075.1 → XP_054195050.1  HORMA domain-containing protein 1 isoform X5

    9. XM_054339073.1 → XP_054195048.1  HORMA domain-containing protein 1 isoform X3

    10. XM_054339076.1 → XP_054195051.1  HORMA domain-containing protein 1 isoform X5

    11. XM_054339074.1 → XP_054195049.1  HORMA domain-containing protein 1 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86X24.1 GenPept UniProtKB/Swiss-Prot:Q86X24

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