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

Summary

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: mouse all
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Genomic context

Location:: 1q21.3

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (150698060..150720895, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (149822136..149844650, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (150670536..150693371, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Hormad1 (e-PCR), detects polymorphism
- UniSTS:525731

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)

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
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_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

150698060..150720895 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047431838.1 → XP_047287794.1 HORMA domain-containing protein 1 isoform X8
XM_047431826.1 → XP_047287782.1 HORMA domain-containing protein 1 isoform X5
XM_047431814.1 → XP_047287770.1 HORMA domain-containing protein 1 isoform X3
XM_047431843.1 → XP_047287799.1 HORMA domain-containing protein 1 isoform X8
XM_047431828.1 → XP_047287784.1 HORMA domain-containing protein 1 isoform X5
XM_047431810.1 → XP_047287766.1 HORMA domain-containing protein 1 isoform X2
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
XM_047431836.1 → XP_047287792.1 HORMA domain-containing protein 1 isoform X7
XM_047431831.1 → XP_047287787.1 HORMA domain-containing protein 1 isoform X6

Related

ENSP00000357991.4, ENST00000368995.8
XM_047431845.1 → XP_047287801.1 HORMA domain-containing protein 1 isoform X9
XM_011510054.3 → XP_011508356.1 HORMA domain-containing protein 1 isoform X4

Conserved Domains (1) summary

pfam02301
Location:23 → 220

HORMA; HORMA domain