HORMAD1 (HORMA domain containing 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 84072
Gene name HORMA domain containing 1
Gene symbol HORMAD1
Synonyms (NCBI Gene)
CT46NOHMA
Chromosome 1
Chromosome location 1q21.3
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
miRNA miRNA information provided by mirtarbase database.
14
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (14)
miRTarBase ID miRNA Experiments Reference
MIRT1053010 hsa-miR-3177-5p CLIP-seq
MIRT1053011 hsa-miR-3591-5p CLIP-seq
MIRT1053012 hsa-miR-4280 CLIP-seq
MIRT1053013 hsa-miR-548ae CLIP-seq
MIRT1053014 hsa-miR-548aj CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (27)
GO ID Ontology Definition Evidence Reference
GO:0000794 Component Condensed nuclear chromosome IEA
GO:0000795 Component Synaptonemal complex IEA
GO:0001824 Process Blastocyst development IEA
GO:0001824 Process Blastocyst development ISS
GO:0005515 Function Protein binding IPI 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
609824 25245 ENSG00000143452
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86X24
Protein name HORMA domain-containing protein 1 (Cancer/testis antigen 46) (CT46) (Newborn ovary HORMA protein)
Protein 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 num
PDB 8J69
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02301 HORMA 26 → 220 HORMA domain Domain
Tissue specificity TISSUE SPECIFICITY: Testis-specific. Over-expressed in carcinomas. {ECO:0000269|PubMed:15999985}.
Sequence 
MATAQLQRTPMSALVFPNKISTEHQSLVLVKRLLAVSVSCITYLRGIFPECAYGTRYLDD
LCVKILREDKNCPGSTQLVKWMLGCYDALQKKYLRMVVLAVYTNPEDPQTISECYQFKFK
YTNNGPLMDFISKNQSNESSMLSTDTKKASILLIRKIYILMQNLGPLPNDVCLTMKLFYY
DEVTPPDYQPPGFKDGDCEGVIFEGEPMYLNVGEVSTPFHIFKVKVTTERERMENIDSTI
LSPKQIKTPFQKILRDKDVEDEQEHYTSDDLDIETKMEEQEKNPASSELEEPSLVCEEDE
IMRSKESPDLSISHSQVEQLVNKTSELDMSESKTRSGKVFQNKMANGNQPVKSSKENRKR
SQHESGRIVLHHFDSSSQESVPKRRKFSEPKEHI
Sequence length 394
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Male infertility Pathogenic rs2524906308 RCV002292425
Show/Hide Text Mining Associations (10)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 30333500
Azoospermia Associate 22407170
Breast Neoplasms Associate 24764584, 38467851
Carcinoma Squamous Cell Associate 37371097
Chromosome Aberrations Associate 37838177
Lung Diseases Associate 37838177
Neoplasms Associate 26923702, 30333500, 37371097, 37838177, 38467851
Neoplasms Radiation Induced Associate 30333500
Recombinant chromosome 8 syndrome Associate 25770156
Triple Negative Breast Neoplasms Associate 25770156, 34036395, 35768547, 36852691