Seroatlas · Human Serome Atlas

EPM2AIP1

EPM2A-interacting protein 1

Also known as: EPMIP_HUMAN, FLJ11207, KIAA0766

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

Protein identityUniProt · HPA

UniProt accession: Q7L775
Gene: EPM2AIP1
Ensembl: ENSG00000178567
Chromosome: 3
Canonical length: 607 aa
Protein class: Predicted intracellular proteins

OverviewNCBI Gene

The EPM2A gene, which encodes laforin, is mutated in an autosomal recessive form of adolescent progressive myoclonus epilepsy. The protein encoded by this gene binds to laforin, but its function is not known. This gene is intronless. [provided by RefSeq, Oct 2008]

Canonical amino-acid sequenceUniProt

607 residues, UniProt reviewed canonical sequence.

>Q7L775|EPM2AIP1
     1  MWMTPKRSKM EVDEALVFRP EWTQRYLVVE PPEGDGALCL VCRRLIVATR ERDVRRHYEA
    61  EHEYYERYVA DGERAALVER LRQGDLPVAS FTPEERAARA GLGLCRLLAL KGRGWGEGDF
   121  VYQCMEVLLR EVLPEHVSVL QGVDLSPDIT RQRILSIDRN LRNQLFNRAR DFKAYSLALD
   181  DQAFVAYENY LLVFIRGVGP ELEVQEDLLT IINLTHHFSV GALMSAILES LQTAGLSLQR
   241  MVGLTTTHTL RMIGENSGLV SYMREKAVSP NCWNVIHYSG FLHLELLSSY DVDVNQIINT
   301  ISEWIVLIKT RGVRRPEFQT LLTESESEHG ERVNGRCLNN WLRRGKTLKL IFSLRKEMEA
   361  FLVSVGATTV HFSDKQWLCD FGFLVDIMEH LRELSEELRV SKVFAAAAFD HICTFEVKLN
   421  LFQRHIEEKN LTDFPALREV VDELKQQNKE DEKIFDPDRY QMVICRLQKE FERHFKDLRF
   481  IKKDLELFSN PFNFKPEYAP ISVRVELTKL QANTNLWNEY RIKDLGQFYA GLSAESYPII
   541  KGVACKVASL FDSNQICEKA FSYLTRNQHT LSQPLTDEHL QALFRVATTE MEPGWDDLVR
   601  ERNESNP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EPM2AIP1 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): 0.26
Highest tissue expression: 26 nTPM

Expression across tissuesHPA

Tissue

retina: 26 nTPM
cerebellum: 21 nTPM
thyroid gland: 20 nTPM
ovary: 16 nTPM
epididymis: 15 nTPM
hypothalamus: 14 nTPM

Single-cell type

sertoli cells: 127 nCPM
corticotrophs: 113 nCPM
adrenal medulla cells: 106 nCPM
oligodendrocytes: 90 nCPM
neutrophils: 85 nCPM
other brain neurons: 84 nCPM

Immune cell

non-classical monocyte: 8.8 nTPM
basophil: 5.8 nTPM
eosinophil: 5.7 nTPM
naive B-cell: 4.9 nTPM
NK-cell: 4.9 nTPM
memory CD4 T-cell: 4.7 nTPM

Brain region

cerebellum: 43 nTPM
hypothalamus: 42 nTPM
white matter: 33 nTPM
pons: 32 nTPM
cerebral cortex: 31 nTPM
midbrain: 29 nTPM

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): 0.45
gnomAD pLI: 0.6
gnomAD missense Z: 1.44
DepMap mean gene effect: -0.17
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

identical protein binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of EPM2AIP1 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 EPM2AIP1 as an antibody target. Whether an autoantibody or antibody against EPM2AIP1 could matter depends on whether native EPM2AIP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EPM2AIP1 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 EPM2AIP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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