• Gene id: 84072

Gene Summary

• Gene Symbol: HORMAD1   Gene   UCSC   Ensembl
• Aliases: CT46, NOHMA
• Gene name: HORMA domain containing 1
• Alternate names: HORMA domain-containing protein 1, cancer/testis antigen 46, newborn ovary HORMA protein, testis tissue sperm-binding protein Li 86P,
• Gene location: 1q21.3 (150720909: 150698058)     Exons: 16     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 609824

Protein Summary

• Protein general information: Q86X24  
  • Name: HORMA domain containing protein 1 (Cancer/testis antigen 46) (CT46) (Newborn ovary HORMA protein)
  • Length: 394  
  • Mass: 45,200
• Sequence:

  MATAQLQRTPMSALVFPNKISTEHQSLVLVKRLLAVSVSCITYLRGIFPECAYGTRYLDDLCVKILREDKNCPGS
  TQLVKWMLGCYDALQKKYLRMVVLAVYTNPEDPQTISECYQFKFKYTNNGPLMDFISKNQSNESSMLSTDTKKAS
  ILLIRKIYILMQNLGPLPNDVCLTMKLFYYDEVTPPDYQPPGFKDGDCEGVIFEGEPMYLNVGEVSTPFHIFKVK
  VTTERERMENIDSTILSPKQIKTPFQKILRDKDVEDEQEHYTSDDLDIETKMEEQEKNPASSELEEPSLVCEEDE
  IMRSKESPDLSISHSQVEQLVNKTSELDMSESKTRSGKVFQNKMANGNQPVKSSKENRKRSQHESGRIVLHHFDS
  SSQESVPKRRKFSEPKEHI

• Structural information:
  • Protein Domains: HORMA. (24-226)
  • Interpro: IPR003511  IPR036570  
  • Prosite: PS50815
  • STRING: ENSP00000355167
• Other Databases: GeneCards:  HORMAD1  Malacards:  HORMAD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000795	synaptonemal complex	IEA	cellular component
GO:0001824	blastocyst development	ISS	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005694	chromosome	ISS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007126	meiotic nuclear division	ISS	biological process
GO:0007130	synaptonemal complex assembly	ISS	biological process
GO:0007283	spermatogenesis	ISS	biological process
GO:0042138	meiotic DNA double-strand break formation	ISS	biological process
GO:0048477	oogenesis	ISS	biological process
GO:0051177	meiotic sister chromatid cohesion	ISS	biological process
GO:0051598	meiotic recombination checkpoint	ISS	biological process
GO:0060629	regulation of homologous chromosome segregation	ISS	biological process
GO:0000794	condensed nuclear chromosome	IEA	cellular component
GO:0000795	synaptonemal complex	IEA	cellular component
GO:0001824	blastocyst development	IEA	biological process
GO:0001824	blastocyst development	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005694	chromosome	ISS	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007126	meiotic nuclear division	IEA	biological process
GO:0007126	meiotic nuclear division	ISS	biological process
GO:0007129	synapsis	IEA	biological process
GO:0007130	synaptonemal complex assembly	IEA	biological process
GO:0007130	synaptonemal complex assembly	ISS	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007283	spermatogenesis	ISS	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0042138	meiotic DNA double-strand break formation	IEA	biological process
GO:0042138	meiotic DNA double-strand break formation	ISS	biological process
GO:0048477	oogenesis	IEA	biological process
GO:0048477	oogenesis	ISS	biological process
GO:0048477	oogenesis	IEA	biological process
GO:0051177	meiotic sister chromatid cohesion	IEA	biological process
GO:0051177	meiotic sister chromatid cohesion	ISS	biological process
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0051598	meiotic recombination checkpoint	IEA	biological process
GO:0051598	meiotic recombination checkpoint	ISS	biological process
GO:0060629	regulation of homologous chromosome segregation	IEA	biological process
GO:0060629	regulation of homologous chromosome segregation	ISS	biological process
GO:0001824	blastocyst development	ISS	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005694	chromosome	ISS	cellular component
GO:0007126	meiotic nuclear division	ISS	biological process
GO:0007130	synaptonemal complex assembly	ISS	biological process
GO:0007283	spermatogenesis	ISS	biological process
GO:0042138	meiotic DNA double-strand break formation	ISS	biological process
GO:0048477	oogenesis	ISS	biological process
GO:0051177	meiotic sister chromatid cohesion	ISS	biological process
GO:0051598	meiotic recombination checkpoint	ISS	biological process
GO:0060629	regulation of homologous chromosome segregation	ISS	biological process

Diseases

Associated diseases	References
Male factor infertility	MIK: 22407170
Azoospermia	MIK: 22407170
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Azoospermia	MIK: 22407170
Cryptorchidism	MIK: 28606200
Nonobstructive azoospermia	MIK: 28342926
Hypospermatogenesis	MIK: 28342926
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
22407170	Azoospermia	HORMAD1 ((c. 163A>G), SNP2 (c. 501T>G) and SNP3 (c. 918C>T))		110 (30 patients with azoospermia, 80 normal pregnancy-proven, fertile men)	Male infertility	HORMAD1
28342926	Nonobstructive azoospermia and hypospermatogenesis			100 patients with nonobstructive azoospermia and HS and 8 patients with obstructive azoospermia and normal spermatogenesis	Male infertility	NGS (CpG methylation)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq