Seroatlas · Human Serome Atlas

REC114

Meiotic recombination protein REC114

Also known as: C15orf60, CT147, FLJ27520, FLJ36860, FLJ44083, LOC283677, RE114_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q7Z4M0
Gene: REC114
Ensembl: ENSG00000183324
Chromosome: 15
Canonical length: 266 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

The protein encoded by this gene is orthologous to the mouse meiotic recombination protein REC114, which is involved in DNA double-strand break formation during meiosis. The encoded protein is conserved in most eukaryotes and was first discovered and characterized in yeast. [provided by RefSeq, Feb 2017]

Canonical amino-acid sequenceUniProt

266 residues, UniProt reviewed canonical sequence.

>Q7Z4M0|REC114
     1  MAEAGKVPLS LGLTGGEAAE WPLQRYARCI PSNTRDPPGP CLEAGTAPCP TWKVFDSNEE
    61  SGYLVLTIVI SGHFFIFQGQ TLLEGFSLIG SKDWLKIVRR VDCLLFGTTI KDKSRLFRVQ
   121  FSGESKEQAL EHCCSCVQKL AQYITVQVPD GNIQELQLIP GPPRATESQG KDSAKSVPRQ
   181  PGSHQHSEQQ QVCVTAGTGA PDGRTSLTQL AQTLLASEEL PHVYEQSAWG AEELGPFLRL
   241  CLMDQNFPAF VEEVEKELKK LAGLRN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against REC114 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: Unknown
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.46
Highest tissue expression: 38 nTPM

Expression across tissuesHPA

Tissue

testis: 38 nTPM
heart muscle: 4.5 nTPM
ovary: 2.5 nTPM
retina: 0.2 nTPM
duodenum: 0.1 nTPM
adipose tissue: 0 nTPM

Single-cell type

oocytes: 1,336 nCPM
late primary spermatocytes: 348 nCPM
early spermatids: 181 nCPM
early primary spermatocytes: 123 nCPM
epicardial cells: 84 nCPM
cardiomyocytes: 70 nCPM

Immune cell

memory CD8 T-cell: 0.2 nTPM
gdT-cell: 0.1 nTPM
memory CD4 T-cell: 0.1 nTPM
T-reg: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM

Brain region

cerebellum: 3.9 nTPM
cerebral cortex: 2.5 nTPM
amygdala: 2 nTPM
basal ganglia: 1.9 nTPM
hippocampal formation: 1.8 nTPM
white matter: 1.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about REC114.

Disease | AllUniProt

Conditions REC114 is implicated in, by any mechanism.

Oocyte/zygote/embryo maturation arrest 10 (OZEMA10) MIM:619176

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 59 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Oocyte maturation defect 10

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): 1.11
gnomAD pLI: 0
DepMap mean gene effect: -0.04
DepMap dependency class: none

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

Cellular components

chromosome

Protein domainsUniProt · Pfam · InterPro

Meiotic recombination protein REC114-like
Meiotic recombination protein REC114-like

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of REC114 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 REC114 as an antibody target. Whether an autoantibody or antibody against REC114 could matter depends on whether native REC114 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

REC114 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 REC114 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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