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

Gene ID: 84072, updated on 5-Mar-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
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Genomic context

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Location:
1q21.3
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (150698060..150720895, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (149822136..149844650, complement)
105.20220307 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
  • 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. Ectopically Expressed Meiosis-Specific Cancer Testis Antigen HORMAD1 Promotes Genomic Instability in Squamous Cell Carcinomas. Gantchev J, et al. Cells, 2023 Jun 14. PMID 37371097, Free PMC Article
  2. A biallelic loss of function variant in HORMAD1 within a large consanguineous Turkish family is associated with spermatogenic arrest. Okutman O, et al. Hum Reprod, 2023 Feb 1. PMID 36524333
  3. HORMAD1 promotes docetaxel resistance in triple negative breast cancer by enhancing DNA damage tolerance. Zong B, et al. Oncol Rep, 2021 Jul. PMID 34036395, Free PMC Article
  4. The Cancer/Testes (CT) Antigen HORMAD1 promotes Homologous Recombinational DNA Repair and Radioresistance in Lung adenocarcinoma cells. Gao Y, et al. Sci Rep, 2018 Oct 17. PMID 30333500, Free PMC Article
  5. HORMAD1 Is a Negative Prognostic Indicator in Lung Adenocarcinoma and Specifies Resistance to Oxidative and Genotoxic Stress. Nichols BA, et al. Cancer Res, 2018 Nov 1. PMID 30185546, Free PMC Article

See all (33) 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_2023_10

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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