Seroatlas · Human Serome Atlas

HORMAD1

HORMA domain-containing protein 1

Also known as: CT46, DKFZP434A1315, HORM1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q86X24
Gene: HORMAD1
Ensembl: ENSG00000143452
Chromosome: 1
Canonical length: 394 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nucleoli

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

394 residues, UniProt reviewed canonical sequence.

>Q86X24|HORMAD1
     1  MATAQLQRTP MSALVFPNKI STEHQSLVLV KRLLAVSVSC ITYLRGIFPE CAYGTRYLDD
    61  LCVKILREDK NCPGSTQLVK WMLGCYDALQ KKYLRMVVLA VYTNPEDPQT ISECYQFKFK
   121  YTNNGPLMDF ISKNQSNESS MLSTDTKKAS ILLIRKIYIL MQNLGPLPND VCLTMKLFYY
   181  DEVTPPDYQP PGFKDGDCEG VIFEGEPMYL NVGEVSTPFH IFKVKVTTER ERMENIDSTI
   241  LSPKQIKTPF QKILRDKDVE DEQEHYTSDD LDIETKMEEQ EKNPASSELE EPSLVCEEDE
   301  IMRSKESPDL SISHSQVEQL VNKTSELDMS ESKTRSGKVF QNKMANGNQP VKSSKENRKR
   361  SQHESGRIVL HHFDSSSQES VPKRRKFSEP KEHI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HORMAD1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.39
Highest tissue expression: 110 nTPM

Expression across tissuesHPA

Tissue

testis: 110 nTPM
skin: 6.4 nTPM
esophagus: 3.4 nTPM
spleen: 0.9 nTPM
tonsil: 0.7 nTPM
appendix: 0.5 nTPM

Single-cell type

early primary spermatocytes: 772 nCPM
late primary spermatocytes: 549 nCPM
differentiating spermatogonia: 147 nCPM
early spermatids: 64 nCPM
neutrophils: 32 nCPM
late spermatids: 20 nCPM

Immune cell

neutrophil: 1.2 nTPM
classical monocyte: 0.3 nTPM
eosinophil: 0.1 nTPM
intermediate monocyte: 0.1 nTPM
myeloid DC: 0.1 nTPM
non-classical monocyte: 0.1 nTPM

Brain region

cerebral cortex: 0.9 nTPM
hypothalamus: 0.9 nTPM
white matter: 0.9 nTPM
thalamus: 0.8 nTPM
medulla oblongata: 0.7 nTPM
pons: 0.7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HORMAD1.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 43 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Male infertility

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.34
gnomAD pLI: 0.95
gnomAD missense Z: 1.54
DepMap mean gene effect: -0.21
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of HORMAD1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads HORMAD1 as an antibody target. Whether an autoantibody or antibody against HORMAD1 could matter depends on whether native HORMAD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

HORMAD1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label HORMAD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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