Seroatlas · Human Serome Atlas

EFR3A

Protein EFR3 homolog A

Also known as: EFR3A_HUMAN, KIAA0143

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

Protein identityUniProt · HPA

UniProt accession: Q14156
Gene: EFR3A
Ensembl: ENSG00000132294
Chromosome: 8
Canonical length: 821 aa
Protein class: Disease related genes, Predicted intracellular proteins
Subcellular location: Plasma membrane,Cytosol

OverviewNCBI Gene

The protein encoded by this gene is part of a complex that plays a role in maintaining an active pool of phosphatidylinositol 4-kinase (PI4K) at the plasma membrane. This protein is thought to be a peripheral membrane protein that associates with the plasma membrane through palmitoylation. Studies indicate that this gene product plays a role in controlling G protein-coupled receptor (GPCR) activity by affecting receptor phosphorylation. Whole exome sequencing studies have implicated mutations in this gene with autism spectrum disorders. [provided by RefSeq, Apr 2016]

Canonical amino-acid sequenceUniProt

821 residues, UniProt reviewed canonical sequence.

>Q14156|EFR3A
     1  MPTRVCCCCS ALRPRYKRLV DNIFPEDPKD GLVKTDMEKL TFYAVSAPEK LDRIGSYLAE
    61  RLSRDVVRHR SGYVLIAMEA LDQLLMACHS QSIKPFVESF LHMVAKLLES GEPKLQVLGT
   121  NSFVKFANIE EDTPSYHRRY DFFVSRFSAM CHSCHSDPEI RTEIRIAGIR GIQGVVRKTV
   181  NDELRATIWE PQHMDKIVPS LLFNMQKIEE VDSRIGPPSS PSATDKEENP AVLAENCFRE
   241  LLGRATFGNM NNAVRPVFAH LDHHKLWDPN EFAVHCFKII MYSIQAQYSH HVIQEILGHL
   301  DARKKDAPRV RAGIIQVLLE AVAIAAKGSI GPTVLEVFNT LLKHLRLSVE FEANDLQGGS
   361  VGSVNLNTSS KDNDEKIVQN AIIQTIGFFG SNLPDYQRSE IMMFIMGKVP VFGTSTHTLD
   421  ISQLGDLGTR RIQIMLLRSL LMVTSGYKAK TIVTALPGSF LDPLLSPSLM EDYELRQLVL
   481  EVMHNLMDRH DNRAKLRGIR IIPDVADLKI KREKICRQDT SFMKKNGQQL YRHIYLGCKE
   541  EDNVQKNYEL LYTSLALITI ELANEEVVID LIRLAIALQD SAIINEDNLP MFHRCGIMAL
   601  VAAYLNFVSQ MIAVPAFCQH VSKVIEIRTM EAPYFLPEHI FRDKCMLPKS LEKHEKDLYF
   661  LTNKIAESLG GSGYSVERLS VPYVPQVTDE DRLSRRKSIV DTVSIQVDIL SNNVPSDDVV
   721  SNTEEITFEA LKKAIDTSGM EEQEKEKRRL VIEKFQKAPF EEIAAQCESK ANLLHDRLAQ
   781  ILELTIRPPP SPSGTLTITS GHAQYQSVPV YEMKFPDLCV Y

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EFR3A 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: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.31
Highest tissue expression: 113 nTPM

Expression across tissuesHPA

Tissue

retina: 113 nTPM
tongue: 46 nTPM
liver: 42 nTPM
cerebral cortex: 40 nTPM
cerebellum: 40 nTPM
skeletal muscle: 39 nTPM

Single-cell type

retinal bipolar cells: 680 nCPM
cone photoreceptor cells: 302 nCPM
rod photoreceptor cells: 237 nCPM
lactotrophs: 189 nCPM
kupffer cells: 176 nCPM
monocytes: 172 nCPM

Immune cell

non-classical monocyte: 41 nTPM
intermediate monocyte: 23 nTPM
eosinophil: 17 nTPM
myeloid DC: 17 nTPM
classical monocyte: 17 nTPM
gdT-cell: 16 nTPM

Brain region

pons: 165 nTPM
cerebellum: 118 nTPM
cerebral cortex: 115 nTPM
hippocampal formation: 104 nTPM
medulla oblongata: 101 nTPM
basal ganglia: 92 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): 0.77
gnomAD pLI: 0
gnomAD missense Z: 0.8
DepMap mean gene effect: -0.44
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 12% 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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads EFR3A as an antibody target. Whether an autoantibody or antibody against EFR3A could matter depends on whether native EFR3A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EFR3A is annotated at the cell surface, where native EFR3A is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label EFR3A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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