Seroatlas · Human Serome Atlas

REC8

Meiotic recombination protein REC8 homolog

Also known as: kleisin-alpha, REC8_HUMAN, REC8L1, Rec8p

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

Protein identityUniProt · HPA

UniProt accession: O95072
Gene: REC8
Ensembl: ENSG00000100918
Chromosome: 14
Canonical length: 547 aa
Protein class: Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm

OverviewNCBI Gene

This gene encodes a member of the kleisin family of SMC (structural maintenance of chromosome) protein partners. The protein localizes to the axial elements of chromosomes during meiosis in both oocytes and spermatocytes. In the mouse, the homologous protein is a key component of the meiotic cohesion complex, which regulates sister chromatid cohesion and recombination between homologous chromosomes. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

547 residues, UniProt reviewed canonical sequence.

>O95072|REC8
     1  MFYYPNVLQR HTGCFATIWL AATRGSRLVK REYLRVNVVK TCEEILNYVL VRVQPPQPGL
    61  PRPRFSLYLS AQLQIGVIRV YSQQCQYLVE DIQHILERLH RAQLQIRIDM ETELPSLLLP
   121  NHLAMMETLE DAPDPFFGMM SVDPRLPSPF DIPQIRHLLE AAIPERVEEI PPEVPTEPRE
   181  PERIPVTVLP PEAITILEAE PIRMLEIEGE RELPEVSRRE LDLLIAEEEE AILLEIPRLP
   241  PPAPAEVEGI GEALGPEELR LTGWEPGALL MEVTPPEELR LPAPPSPERR PPVPPPPRRR
   301  RRRRLLFWDK ETQISPEKFQ EQLQTRAHCW ECPMVQPPER TIRGPAELFR TPTLSGWLPP
   361  ELLGLWTHCA QPPPKALRRE LPEEAAAEEE RRKIEVPSEI EVPREALEPS VPLMVSLEIS
   421  LEAAEEEKSR ISLIPPEERW AWPEVEAPEA PALPVVPELP EVPMEMPLVL PPELELLSLE
   481  AVHRAVALEL QANREPDFSS LVSPLSPRRM AARVFYLLLV LSAQQILHVK QEKPYGRLLI
   541  QPGPRFH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against REC8 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): 0.57
Highest tissue expression: 65 nTPM

Expression across tissuesHPA

Tissue

pituitary gland: 65 nTPM
cerebellum: 34 nTPM
testis: 29 nTPM
stomach: 25 nTPM
spinal cord: 13 nTPM
spleen: 13 nTPM

Single-cell type

early spermatids: 150 nCPM
late spermatids: 84 nCPM
late primary spermatocytes: 83 nCPM
differentiating spermatogonia: 46 nCPM
fallopian tube ciliated cells: 43 nCPM
respiratory ciliated cells: 34 nCPM

Immune cell

eosinophil: 9.7 nTPM
non-classical monocyte: 5.8 nTPM
MAIT T-cell: 5.4 nTPM
plasmacytoid DC: 5.2 nTPM
gdT-cell: 4.7 nTPM
myeloid DC: 3.2 nTPM

Brain region

pons: 20 nTPM
medulla oblongata: 14 nTPM
thalamus: 13 nTPM
choroid plexus: 12 nTPM
cerebellum: 12 nTPM
midbrain: 11 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about REC8.

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 48 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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): 0.65
gnomAD pLI: 0
gnomAD missense Z: 1.47
DepMap mean gene effect: -0.08
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

chromatin binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of REC8 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 REC8 as an antibody target. Whether an autoantibody or antibody against REC8 could matter depends on whether native REC8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

REC8 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 REC8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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