Aliases for HORMAD1 Gene
Aliases for HORMAD1 Gene
External Ids for HORMAD1 Gene
- HGNC: 25245
- Entrez Gene: 84072
- Ensembl: ENSG00000143452
- OMIM: 609824
- UniProtKB: Q86X24
Previous GeneCards Identifiers for HORMAD1 Gene
- GC01M147484
- GC01M148937
- GC01M122049
Summaries 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.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HORMAD1 Gene
Genomics for HORMAD1 Gene
Regulatory Elements for HORMAD1 Gene
- Transcription factor binding sites by QIAGEN in the HORMAD1 gene promoter:
Regulatory Element Products
Genomic Location for HORMAD1 Gene
- Chromosome:
- 1
- Start:
- 150,698,059 bp from pter
- End:
- 150,720,909 bp from pter
- Size:
- 22,851 bases
- Orientation:
- Minus strand
Genomic View for HORMAD1 Gene
- Cytogenetic band:
-
- 1q21.3 by Ensembl
- 1q21.3 by Entrez Gene
- 1q21.3 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for HORMAD1 Gene
Post-translational modifications for HORMAD1 Gene
- Phosphorylated at Ser-377 in a SPO11-dependent manner.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for HORMAD1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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-
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Protein Products
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Assay Products
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No data available for DME Specific Peptides for HORMAD1 Gene
Domains & Families for HORMAD1 Gene
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
No data available for Gene Families and 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 for HORMAD1 Gene
- MGI mutant phenotypes for HORMAD1:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for HORMAD1:
Animal Models for HORMAD1 Gene
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CRISPR Products
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Flow Cytometry 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}.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000795 | synaptonemal complex | IEA | -- |
| GO:0005634 | nucleus | IDA | -- |
| GO:0005694 | chromosome | ISS | -- |
Pathways & Interactions for HORMAD1 Gene
Interacting Proteins for HORMAD1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001824 | blastocyst development | ISS | -- |
| GO:0007126 | meiotic nuclear division | ISS | -- |
| GO:0007129 | synapsis | IEA | -- |
| GO:0007130 | synaptonemal complex assembly | ISS | -- |
| GO:0007283 | spermatogenesis | ISS | -- |
No data available for Pathways by source and SIGNOR curated interactions for HORMAD1 Gene
Transcripts for HORMAD1 Gene
mRNA/cDNA for HORMAD1 Gene
- (8) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (51) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for HORMAD1 Gene
CRISPR Products
-
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-
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miRNA Products
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-
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Flow Cytometry Products
| 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: | - |
Expression for HORMAD1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Gonad
- XX Germ Cells Ovigerous Cord
- XY Germ Cells Testis Cord
-
Ovary (Reproductive System)
- XX Germ Cells Ovigerous Cord
-
Testis (Reproductive System)
- XY Germ Cells Testis Cord
mRNA differential expression in normal tissues according to GTEx for HORMAD1 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HORMAD1 Gene
NURSA nuclear receptor signaling pathways regulating expression of HORMAD1 Gene:
HORMAD1SOURCE GeneReport for Unigene cluster for HORMAD1 Gene:
Hs.298312mRNA Expression by UniProt/SwissProt for HORMAD1 Gene:
Q86X24-HORM1_HUMANPrimer Products
-
OriGene qPCR primer pairs for HORMAD1
-
OriGene qPCR primer pairs and template standards for HORMAD1
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HORMAD1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | HORMAD1 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | HORMAD1 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Hormad1 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hormad1 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | HORMAD1 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
ManyToMany | |
| -- 35 |
|
ManyToMany | |||
| chicken (Gallus gallus) |
Aves | HORMAD1 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | HORMAD1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | hormad1 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | hormad1 34 35 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | HOP1 35 37 |
|
OneToMany |
- 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)
Paralogs for HORMAD1 Gene
(1) SIMAP similar genes for HORMAD1 Gene using alignment to 2 proteins:
Pseudogenes.org Pseudogenes for HORMAD1 Gene
Variants for HORMAD1 Gene
| SNP ID | Clin | Chr 01 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000382411 | -- | 150,699,708(+) | TTTGT(A/T)TTTTT | intron-variant | |
| rs1000422517 | -- | 150,716,455(+) | GCACC(A/C)GGCCA | intron-variant | |
| rs1000453790 | -- | 150,716,720(+) | CCACT(C/T)TGGGA | intron-variant | |
| rs1000561264 | -- | 150,709,755(+) | CGATT(G/T)TACAT | intron-variant | |
| rs1000614525 | -- | 150,701,858(+) | AAGAC(A/C/T)GAGCA | intron-variant |
| 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 |
Relevant External Links for HORMAD1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HORMAD1 Gene
Disorders for HORMAD1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| splenic infarction |
|
|
Relevant External Links for HORMAD1
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- HORMAD1
No data available for UniProtKB/Swiss-Prot and Genatlas for HORMAD1 Gene
Publications for HORMAD1 Gene
- Identification of CT46/HORMAD1, an immunogenic cancer/testis antigen encoding a putative meiosis-related protein. (PMID: 15999985) Chen Y.-T. … Simpson A.J.G. (Cancer Immun. 2005) 2 3 4 64
- Restricted germ cell expression of a gene encoding a novel mammalian HORMA domain-containing protein. (PMID: 15567723) Pangas S.A. … Rajkovic A. (Gene Expr. Patterns 2004) 3 4 22 64
- Towards 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 Res. 2001) 2 3 4 64
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
- Genomic Complexity Profiling Reveals That HORMAD1 Overexpression Contributes to Homologous Recombination Deficiency in Triple-Negative Breast Cancers. (PMID: 25770156) Watkins J. … Tutt A.N. (Cancer Discov 2015) 3 64
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- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for HORMAD1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
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- (92) Vector BioLabs
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- (98) BioGPS
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- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
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- (122) diseasecard
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- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
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- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
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- (140) FANTOM5
- (141) ENCODE
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- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer




