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Aliases for HORMAD1 Gene

Aliases for HORMAD1 Gene

  • HORMA Domain Containing 1 2 3 5
  • Cancer/Testis Antigen 46 2 3 4
  • Newborn Ovary HORMA Protein 3 4
  • NOHMA 3 4
  • CT46 3 4
  • Testis Tissue Sperm-Binding Protein Li 86P 3
  • HORMA Domain-Containing Protein 1 3

External Ids for HORMAD1 Gene

Previous GeneCards Identifiers for HORMAD1 Gene

  • GC01M147484
  • GC01M148937
  • GC01M122049

Summaries for HORMAD1 Gene

Entrez Gene Summary for HORMAD1 Gene

  • 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]

GeneCards Summary for HORMAD1 Gene

HORMAD1 (HORMA Domain Containing 1) is a Protein Coding gene. Diseases associated with HORMAD1 include Splenic Infarction. An important paralog of this gene is HORMAD2.

UniProtKB/Swiss-Prot for HORMAD1 Gene

  • Plays a key role in meiotic progression. Regulates 3 different functions during meiosis: ensures that sufficient numbers of processed DNA double-strand breaks (DSBs) are available for successful homology search by increasing the steady-state numbers of single-stranded DSB ends. Promotes synaptonemal-complex formation independently of its role in homology search. Plays a key role in the male mid-pachytene checkpoint and the female meiotic prophase checkpoint: required for efficient build-up of ATR activity on unsynapsed chromosome regions, a process believed to form the basis of meiotic silencing of unsynapsed chromatin (MSUC) and meiotic prophase quality control in both sexes.

Gene Wiki entry for HORMAD1 Gene

Additional gene information for HORMAD1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HORMAD1 Gene

Genomics for HORMAD1 Gene

GeneHancer (GH) Regulatory Elements for HORMAD1 Gene

Promoters and enhancers for HORMAD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J150720 Promoter 0.7 EPDnew 650.7 +0.0 47 0.1 ZBTB33 CHAMP1 HORMAD1 RNU6-1042P
GH01J150695 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 66.5 +24.0 24044 2.5 HDGF FOXA2 PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZBTB7B YY1 POLR2B GOLPH3L HORMAD1 SETDB1 PIP5K1A GABPB2 ZNF687 SF3B4 PRPF3 PI4KB C1orf56
GH01J150969 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 50.4 -254.0 -254048 10.6 CLOCK MLX ZFP64 DMAP1 YY1 E2F8 ZNF143 SP3 SSRP1 GLIS1 CERS2 ENSG00000231073 PRPF3 SETDB1 ZNF687 HORMAD1 PIP5K1A ARNT GOLPH3L PI4KB
GH01J150763 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 57.6 -44.1 -44077 3 HDAC1 PKNOX1 STAT5A IRF4 GTF3C2 POLR3A ATF7 FOS ETV6 BCLAF1 CTSS HORMAD1 ARNT SETDB1 PIP5K1A PRPF3 GOLPH3L SF3B4 ZNF687 PI4KB
GH01J150626 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 49.3 +91.5 91538 4.9 HDGF PKNOX1 CLOCK SMAD1 FOXA2 ARNT ARID4B NEUROD1 SIN3A DMAP1 ENSA GC01P150630 SETDB1 PIP5K1A PRPF3 ARNT UBE2D3P3 PI4KB SF3B4 HORMAD1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HORMAD1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HORMAD1 gene promoter:
  • Gfi-1
  • HNF-1A
  • HNF-1
  • FOXJ2 (long isoform)
  • FOXJ2
  • Nkx3-1 v4
  • Nkx3-1 v3
  • Nkx3-1 v2
  • Nkx3-1 v1
  • Nkx3-1

Genomic Locations for HORMAD1 Gene

Genomic Locations for HORMAD1 Gene
chr1:150,698,059-150,720,909
(GRCh38/hg38)
Size:
22,851 bases
Orientation:
Minus strand
chr1:150,670,535-150,693,364
(GRCh37/hg19)
Size:
22,830 bases
Orientation:
Minus strand

Genomic View for HORMAD1 Gene

Genes around HORMAD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HORMAD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HORMAD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HORMAD1 Gene

Proteins for HORMAD1 Gene

  • Protein details for HORMAD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86X24-HORM1_HUMAN
    Recommended name:
    HORMA domain-containing protein 1
    Protein Accession:
    Q86X24
    Secondary Accessions:
    • A6NMK2
    • B3KUK1
    • Q4G114
    • Q5T5I3
    • Q5T5I4
    • Q5T5I5
    • Q6FIC1
    • Q9H0K8

    Protein attributes for HORMAD1 Gene

    Size:
    394 amino acids
    Molecular mass:
    45200 Da
    Quaternary structure:
    • Interacts with HORMAD2. Interacts with IHO1/CCDC36.
    SequenceCaution:
    • Sequence=AAH33014.1; Type=Frameshift; Positions=89; Evidence={ECO:0000305};

    Alternative splice isoforms for HORMAD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HORMAD1 Gene

Post-translational modifications for HORMAD1 Gene

Other Protein References for HORMAD1 Gene

No data available for DME Specific Peptides for HORMAD1 Gene

Domains & Families for HORMAD1 Gene

Gene Families for HORMAD1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for HORMAD1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for HORMAD1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with HORMAD1: view

No data available for UniProtKB/Swiss-Prot for HORMAD1 Gene

Function for HORMAD1 Gene

Molecular function for HORMAD1 Gene

UniProtKB/Swiss-Prot Function:
Plays a key role in meiotic progression. Regulates 3 different functions during meiosis: ensures that sufficient numbers of processed DNA double-strand breaks (DSBs) are available for successful homology search by increasing the steady-state numbers of single-stranded DSB ends. Promotes synaptonemal-complex formation independently of its role in homology search. Plays a key role in the male mid-pachytene checkpoint and the female meiotic prophase checkpoint: required for efficient build-up of ATR activity on unsynapsed chromosome regions, a process believed to form the basis of meiotic silencing of unsynapsed chromatin (MSUC) and meiotic prophase quality control in both sexes.

Phenotypes From GWAS Catalog for HORMAD1 Gene

genes like me logo Genes that share phenotypes with HORMAD1: view

Animal Models for HORMAD1 Gene

MGI Knock Outs for HORMAD1:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for HORMAD1 Gene

Localization for HORMAD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HORMAD1 Gene

Nucleus. Chromosome. Note=Preferentially localizes to unsynapsed or desynapsed chromosomal regions during the prophase I stage of meiosis. TRIP13 is required for depletion from synapsed chromosomes. The expression of the phosphorylated form at Ser-377 is restricted to unsynapsed chromosomal regions (By similarity). {ECO:0000250 UniProtKB:Q9D5T7}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HORMAD1 gene
Compartment Confidence
nucleus 5
mitochondrion 2
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HORMAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000795 synaptonemal complex IEA --
GO:0005634 nucleus IDA --
GO:0005694 chromosome ISS --
genes like me logo Genes that share ontologies with HORMAD1: view

Pathways & Interactions for HORMAD1 Gene

SuperPathways for HORMAD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HORMAD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001824 blastocyst development ISS --
GO:0007129 synapsis IEA --
GO:0007130 synaptonemal complex assembly ISS --
GO:0007283 spermatogenesis ISS --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with HORMAD1: view

No data available for Pathways by source and SIGNOR curated interactions for HORMAD1 Gene

Drugs & Compounds for HORMAD1 Gene

No Compound Related Data Available

Transcripts for HORMAD1 Gene

mRNA/cDNA for HORMAD1 Gene

Unigene Clusters for HORMAD1 Gene

HORMA domain containing 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HORMAD1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c · 15d · 15e
SP1: - - - -
SP2: -
SP3:
SP4: - - -
SP5: -

Relevant External Links for HORMAD1 Gene

GeneLoc Exon Structure for
HORMAD1
ECgene alternative splicing isoforms for
HORMAD1

Expression for HORMAD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HORMAD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HORMAD1 Gene

This gene is overexpressed in Testis (x42.3).

Protein differential expression in normal tissues from HIPED for HORMAD1 Gene

This gene is overexpressed in Testis (56.0) and Ovary (12.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HORMAD1 Gene



Protein tissue co-expression partners for HORMAD1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HORMAD1 Gene:

HORMAD1

SOURCE GeneReport for Unigene cluster for HORMAD1 Gene:

Hs.298312

mRNA Expression by UniProt/SwissProt for HORMAD1 Gene:

Q86X24-HORM1_HUMAN
Tissue specificity: Testis-specific. Over-expressed in carcinomas.
genes like me logo Genes that share expression patterns with HORMAD1: view

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for HORMAD1 Gene

Orthologs for HORMAD1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HORMAD1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HORMAD1 34 33
  • 99.41 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HORMAD1 34 33
  • 92.81 (n)
OneToOne
cow
(Bos Taurus)
Mammalia HORMAD1 34 33
  • 90.48 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Hormad1 16 34 33
  • 86.37 (n)
rat
(Rattus norvegicus)
Mammalia Hormad1 33
  • 85.26 (n)
oppossum
(Monodelphis domestica)
Mammalia HORMAD1 34
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 43 (a)
ManyToMany
-- 34
  • 34 (a)
ManyToMany
chicken
(Gallus gallus)
Aves HORMAD1 34 33
  • 66.67 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HORMAD1 34
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hormad1 33
  • 64.57 (n)
zebrafish
(Danio rerio)
Actinopterygii hormad1 34 33
  • 58.71 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HOP1 36 34
  • 12 (a)
Species where no ortholog for HORMAD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HORMAD1 Gene

ENSEMBL:
Gene Tree for HORMAD1 (if available)
TreeFam:
Gene Tree for HORMAD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HORMAD1: view image

Paralogs for HORMAD1 Gene

Paralogs for HORMAD1 Gene

(1) SIMAP similar genes for HORMAD1 Gene using alignment to 2 proteins:

  • HORM1_HUMAN
  • J3QSX5_HUMAN

Pseudogenes.org Pseudogenes for HORMAD1 Gene

genes like me logo Genes that share paralogs with HORMAD1: view

Variants for HORMAD1 Gene

Sequence variations from dbSNP and Humsavar for HORMAD1 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000382411 -- 150,699,708(-) A/T intron_variant
rs1000422517 -- 150,716,455(-) C/A intron_variant
rs1000453790 -- 150,716,720(-) T/C intron_variant
rs1000561264 -- 150,709,755(-) G/T intron_variant
rs1000614525 -- 150,701,858(-) T/A/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for HORMAD1 Gene

Variant ID Type Subtype PubMed ID
dgv199n106 CNV deletion 24896259
esv1594619 CNV deletion 17803354
esv2238986 CNV deletion 18987734
esv2482983 CNV deletion 19546169
esv2570262 CNV deletion 19546169
esv2609983 CNV deletion 19546169
esv2717807 CNV deletion 23290073
esv2761795 CNV loss 21179565
esv3540633 CNV deletion 23714750
esv3600 CNV loss 18987735
esv9188 CNV loss 19470904
esv992009 CNV deletion 20482838
nsv1006838 CNV gain 25217958
nsv1014638 CNV gain 25217958
nsv1078810 CNV deletion 25765185
nsv437158 CNV loss 16327808
nsv520425 CNV loss 19592680
nsv528859 CNV loss 19592680
nsv958528 CNV deletion 24416366

Variation tolerance for HORMAD1 Gene

Residual Variation Intolerance Score: 81.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.20; 80.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HORMAD1 Gene

Human Gene Mutation Database (HGMD)
HORMAD1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HORMAD1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HORMAD1 Gene

Disorders for HORMAD1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for HORMAD1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
splenic infarction
  • splenic infarct
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HORMAD1

genes like me logo Genes that share disorders with HORMAD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HORMAD1 Gene

Publications for HORMAD1 Gene

  1. Identification of CT46/HORMAD1, an immunogenic cancer/testis antigen encoding a putative meiosis-related protein. (PMID: 15999985) Chen YT … Simpson AJ (Cancer immunity 2005) 2 3 4 58
  2. Restricted germ cell expression of a gene encoding a novel mammalian HORMA domain-containing protein. (PMID: 15567723) Pangas SA … Rajkovic A (Gene expression patterns : GEP 2004) 3 4 22 58
  3. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 2 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. Genomic Complexity Profiling Reveals That HORMAD1 Overexpression Contributes to Homologous Recombination Deficiency in Triple-Negative Breast Cancers. (PMID: 25770156) Watkins J … Tutt AN (Cancer discovery 2015) 3 58

Products for HORMAD1 Gene

Sources for HORMAD1 Gene

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