Seroatlas · Human Serome Atlas

MACROH2A1

Core histone macro-H2A.1

Also known as: H2AFY, H2AY_HUMAN, macroH2A1.2

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

Protein identityUniProt · HPA

UniProt accession: O75367
Gene: MACROH2A1
Ensembl: ENSG00000113648
Chromosome: 5
Canonical length: 369 aa
Protein class: Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. It replaces conventional H2A histones in a subset of nucleosomes where it represses transcription and participates in stable X chromosome inactivation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]

Canonical amino-acid sequenceUniProt

369 residues, UniProt reviewed canonical sequence.

>O75367|MACROH2A1
     1  MSSRGGKKKS TKTSRSAKAG VIFPVGRMLR YIKKGHPKYR IGVGAPVYMA AVLEYLTAEI
    61  LELAGNAARD NKKGRVTPRH ILLAVANDEE LNQLLKGVTI ASGGVLPNIH PELLAKKRGS
   121  KGKLEAIITP PPAKKAKSPS QKKPVSKKAG GKKGARKSKK KQGEVSKAAS ADSTTEGTPA
   181  DGFTVLSTKS LFLGQKLQVV QADIASIDSD AVVHPTNTDF YIGGEVGNTL EKKGGKEFVE
   241  AVLELRKKNG PLEVAGAAVS AGHGLPAKFV IHCNSPVWGA DKCEELLEKT VKNCLALADD
   301  KKLKSIAFPS IGSGRNGFPK QTAAQLILKA ISSYFVSTMS SSIKTVYFVL FDSESIGIYV
   361  QEMAKLDAN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MACROH2A1 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): 0.4
Highest tissue expression: 222 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 222 nTPM
thymus: 188 nTPM
esophagus: 140 nTPM
tonsil: 112 nTPM
lymph node: 106 nTPM
small intestine: 102 nTPM

Single-cell type

esophageal apical cells: 1,168 nCPM
monocyte progenitors: 646 nCPM
kupffer cells: 606 nCPM
monocytes: 559 nCPM
neutrophils: 525 nCPM
esophageal suprabasal cells: 481 nCPM

Immune cell

myeloid DC: 192 nTPM
classical monocyte: 170 nTPM
plasmacytoid DC: 137 nTPM
total PBMC: 130 nTPM
intermediate monocyte: 114 nTPM
neutrophil: 85 nTPM

Brain region

hypothalamus: 54 nTPM
white matter: 54 nTPM
choroid plexus: 53 nTPM
pons: 45 nTPM
midbrain: 45 nTPM
spinal cord: 42 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MACROH2A1.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 41 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

MACROH2A1-related neurodevelopmental disorder

Disease | ImmuneIEDB

Conditions an epitope on MACROH2A1 was assayed in.

rheumatoid arthritis B and T cell

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): 0.48
gnomAD pLI: 0.74
DepMap mean gene effect: -0.09
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of MACROH2A1 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 MACROH2A1 as an antibody target. Whether an autoantibody or antibody against MACROH2A1 could matter depends on whether native MACROH2A1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MACROH2A1 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 MACROH2A1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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