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Aliases for EFR3A Gene

Aliases for EFR3A Gene

  • EFR3 Homolog A 2 3 5
  • EFR3 Homolog A (S. Cerevisiae) 2
  • Protein EFR3-Like 4
  • KIAA0143 4

External Ids for EFR3A Gene

Previous GeneCards Identifiers for EFR3A Gene

  • GC08P132985
  • GC08P128233

Summaries for EFR3A Gene

Entrez Gene Summary for EFR3A 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]

GeneCards Summary for EFR3A Gene

EFR3A (EFR3 Homolog A) is a Protein Coding gene. GO annotations related to this gene include binding. An important paralog of this gene is EFR3B.

UniProtKB/Swiss-Prot for EFR3A Gene

  • Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (PubMed:23229899, PubMed:25608530, PubMed:26571211). The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (Probable). In the complex, EFR3A probably acts as the membrane-anchoring component (PubMed:23229899). Also involved in responsiveness to G-protein-coupled receptors; it is however unclear whether this role is direct or indirect (PubMed:25380825).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EFR3A Gene

Genomics for EFR3A Gene

Regulatory Elements for EFR3A Gene

Enhancers for EFR3A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around EFR3A on UCSC Golden Path with GeneCards custom track

Promoters for EFR3A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EFR3A on UCSC Golden Path with GeneCards custom track

Genomic Location for EFR3A Gene

Chromosome:
8
Start:
131,904,088 bp from pter
End:
132,013,642 bp from pter
Size:
109,555 bases
Orientation:
Plus strand

Genomic View for EFR3A Gene

Genes around EFR3A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EFR3A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EFR3A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EFR3A Gene

Proteins for EFR3A Gene

  • Protein details for EFR3A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14156-EFR3A_HUMAN
    Recommended name:
    Protein EFR3 homolog A
    Protein Accession:
    Q14156
    Secondary Accessions:
    • A7MD19
    • Q2VPK2
    • Q63HL7
    • Q68DX1
    • Q6IQ18

    Protein attributes for EFR3A Gene

    Size:
    821 amino acids
    Molecular mass:
    92924 Da
    Quaternary structure:
    • Component of a phosphatidylinositol 4-kinase (PI4K) complex, composed of PI4KA, EFR3 (EFR3A or EFR3B), TTC7 (TTC7A or TTC7B) and FAM126 (FAM126A or FAM126B) (PubMed:26571211).
    SequenceCaution:
    • Sequence=AAH71611.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAI08668.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAI08668.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA09764.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for EFR3A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EFR3A Gene

Proteomics data for EFR3A Gene at MOPED

Post-translational modifications for EFR3A Gene

  • Palmitoylated at its N-terminus, anchoring the protein to the plasma membrane.
  • Ubiquitination at Lys 39 and Lys 50
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for EFR3A Gene

Domains & Families for EFR3A Gene

Protein Domains for EFR3A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EFR3A Gene

Graphical View of Domain Structure for InterPro Entry

Q14156

UniProtKB/Swiss-Prot:

EFR3A_HUMAN :
  • Belongs to the EFR3 family.
Family:
  • Belongs to the EFR3 family.
genes like me logo Genes that share domains with EFR3A: view

No data available for Gene Families for EFR3A Gene

Function for EFR3A Gene

Molecular function for EFR3A Gene

UniProtKB/Swiss-Prot Function:
Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (PubMed:23229899, PubMed:25608530, PubMed:26571211). The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (Probable). In the complex, EFR3A probably acts as the membrane-anchoring component (PubMed:23229899). Also involved in responsiveness to G-protein-coupled receptors; it is however unclear whether this role is direct or indirect (PubMed:25380825).
genes like me logo Genes that share phenotypes with EFR3A: view

Animal Model Products

CRISPR Products

miRNA for EFR3A Gene

miRTarBase miRNAs that target EFR3A

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EFR3A Gene

Localization for EFR3A Gene

Subcellular locations from UniProtKB/Swiss-Prot for EFR3A Gene

Cell membrane; Lipid-anchor. Cytoplasm, cytosol. Note=Palmitoylation anchors the protein to the plasma membrane (PubMed:23229899, PubMed:25380825, PubMed:26571211). A small amount is observed in the cytosol (PubMed:25380825). {ECO:0000269 PubMed:23229899, ECO:0000269 PubMed:25380825, ECO:0000269 PubMed:26571211}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EFR3A Gene COMPARTMENTS Subcellular localization image for EFR3A gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 4
mitochondrion 2
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for EFR3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane IEA,IDA 23229899
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with EFR3A: view

Pathways & Interactions for EFR3A Gene

SuperPathways for EFR3A Gene

No Data Available

Gene Ontology (GO) - Biological Process for EFR3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046854 phosphatidylinositol phosphorylation TAS 23229899
genes like me logo Genes that share ontologies with EFR3A: view

No data available for Pathways by source and SIGNOR curated interactions for EFR3A Gene

Drugs & Compounds for EFR3A Gene

No Compound Related Data Available

Transcripts for EFR3A Gene

Unigene Clusters for EFR3A Gene

EFR3 homolog A (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EFR3A Gene

No ASD Table

Relevant External Links for EFR3A Gene

GeneLoc Exon Structure for
EFR3A
ECgene alternative splicing isoforms for
EFR3A

Expression for EFR3A Gene

mRNA expression in normal human tissues for EFR3A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EFR3A Gene

This gene is overexpressed in Placenta (12.2), Peripheral blood mononuclear cells (8.7), and Bone (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for EFR3A Gene



SOURCE GeneReport for Unigene cluster for EFR3A Gene Hs.204564

genes like me logo Genes that share expression patterns with EFR3A: view

Protein tissue co-expression partners for EFR3A Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for EFR3A Gene

Orthologs for EFR3A Gene

This gene was present in the common ancestor of animals.

Orthologs for EFR3A Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia EFR3A 35
  • 94.68 (n)
  • 98.54 (a)
EFR3A 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Efr3a 35
  • 90.15 (n)
  • 97.31 (a)
Efr3a 16
Efr3a 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EFR3A 35
  • 99.72 (n)
  • 99.88 (a)
EFR3A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Efr3a 35
  • 90.19 (n)
  • 97.8 (a)
cow
(Bos Taurus)
Mammalia -- 36
  • 98 (a)
OneToMany
EFR3A 36
  • 96 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia EFR3A 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 90 (a)
OneToMany
-- 36
  • 83 (a)
OneToMany
chicken
(Gallus gallus)
Aves EFR3A 35
  • 81.06 (n)
  • 89.69 (a)
EFR3A 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 84 (a)
OneToMany
-- 36
  • 80 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia efr3a 35
  • 72.17 (n)
  • 82.56 (a)
zebrafish
(Danio rerio)
Actinopterygii efr3a 35
  • 69.89 (n)
  • 76.39 (a)
zgc73123 35
efr3a 36
  • 73 (a)
OneToMany
efr3a 36
  • 76 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta stmA 36
  • 37 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C32D5.3 36
  • 34 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 38 (a)
OneToMany
Species with no ortholog for EFR3A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EFR3A Gene

ENSEMBL:
Gene Tree for EFR3A (if available)
TreeFam:
Gene Tree for EFR3A (if available)

Paralogs for EFR3A Gene

Paralogs for EFR3A Gene

(1) SIMAP similar genes for EFR3A Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with EFR3A: view

Variants for EFR3A Gene

Sequence variations from dbSNP and Humsavar for EFR3A Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs2270877 - 131,970,556(-) TCCCC(A/C/G)CTGTA nc-transcript-variant, reference, missense
rs1051221 - 131,970,577(+) GTGTC(A/G)ACTTA nc-transcript-variant, reference, missense
VAR_075101 -
VAR_075102 -
VAR_075103 -

Structural Variations from Database of Genomic Variants (DGV) for EFR3A Gene

Variant ID Type Subtype PubMed ID
nsv891452 CNV Gain 21882294
nsv891453 CNV Gain 21882294
esv2657891 CNV Deletion 23128226
esv270449 CNV Insertion 20981092
nsv396604 CNV Insertion 16902084
esv271320 CNV Insertion 20981092
esv2421701 CNV Deletion 20811451
nsv442123 CNV CNV 18776908
esv33463 CNV Loss 17666407
nsv397361 CNV Loss 16902084

Variation tolerance for EFR3A Gene

Residual Variation Intolerance Score: 27.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.52; 64.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EFR3A Gene

Human Gene Mutation Database (HGMD)
EFR3A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EFR3A Gene

Disorders for EFR3A Gene

UniProtKB/Swiss-Prot

EFR3A_HUMAN
  • Note=Genetic variations in EFR3A may be associated with susceptibility to autism. {ECO:0000305 PubMed:24860643}.

Relevant External Links for EFR3A

Genetic Association Database (GAD)
EFR3A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EFR3A

No disorders were found for EFR3A Gene.

No data available for MalaCards and Genatlas for EFR3A Gene

Publications for EFR3A Gene

  1. EFR3s are palmitoylated plasma membrane proteins that control responsiveness to G-protein-coupled receptors. (PMID: 25380825) Bojjireddy N. … Balla T. (J. Cell. Sci. 2015) 3 4 67
  2. Mouse homolog of KIAA0143 protein: hearing deficit induces specific changes of expression in auditory brainstem neurons. (PMID: 15363888) Munemoto Y. … Sugimoto T. (Brain Res. Mol. Brain Res. 2004) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasmaA membrane. (PMID: 26571211) Baskin J.M. … De Camilli P. (Nat. Cell Biol. 2015) 3

Products for EFR3A Gene

Sources for EFR3A Gene

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