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    EFR3A EFR3 homolog A [ Homo sapiens (human) ]

    Gene ID: 23167, updated on 10-Dec-2024

    Summary

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    Official Symbol
    EFR3Aprovided by HGNC
    Official Full Name
    EFR3 homolog Aprovided by HGNC
    Primary source
    HGNC:HGNC:28970
    See related
    Ensembl:ENSG00000132294 MIM:611798; AllianceGenome:HGNC:28970
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 20.9), brain (RPKM 19.1) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See EFR3A in Genome Data Viewer
    Location:
    8q24.22
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (131904093..132013642)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (133027004..133136550)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (132916340..133025889)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene RNA binding motif protein 45 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:132783439-132783966 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:132798484-132799683 Neighboring gene NANOG hESC enhancer GRCh37_chr8:132823618-132824138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27989 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27990 Neighboring gene NANOG hESC enhancer GRCh37_chr8:132832316-132832817 Neighboring gene uncharacterized LOC107986976 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:132868859-132870058 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27991 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19556 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19557 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:132964728-132965406 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr8:133036851-133038050 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:133057119-133057670 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:133066195-133066695 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:133070122-133070699 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:133070700-133071276 Neighboring gene otoconin 90 Neighboring gene Sharpr-MPRA regulatory region 9765 Neighboring gene HHLA1 neighbor of OC90 Neighboring gene Sharpr-MPRA regulatory region 9796

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Circular RNA EFR3A promotes nasopharyngeal carcinoma progression through modulating the miR-654-3p/EFR3A axis. Jiang P, et al. Cell Mol Biol (Noisy-le-grand), 2023 Nov 30. PMID 38063110
    2. EFR3A: a new raft domain organizing protein? Trybus M, et al. Cell Mol Biol Lett, 2023 Oct 25. PMID 37880612, Free PMC Article
    3. Rare deleterious mutations of the gene EFR3A in autism spectrum disorders. Gupta AR, et al. Mol Autism, 2014. PMID 24860643, Free PMC Article
    4. Pharmacogenomics in Alzheimer's disease: a genome-wide association study of response to cholinesterase inhibitors. Martinelli-Boneschi F, et al. Neurobiol Aging, 2013 Jun. PMID 23374588
    5. EFR3s are palmitoylated plasma membrane proteins that control responsiveness to G-protein-coupled receptors. Bojjireddy N, et al. J Cell Sci, 2015 Jan 1. PMID 25380825, Free PMC Article

    See all (47) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Circular RNA EFR3A promotes nasopharyngeal carcinoma progression through modulating the miR-654-3p/EFR3A axis.
      Title: Circular RNA EFR3A promotes nasopharyngeal carcinoma progression through modulating the miR-654-3p/EFR3A axis.
    2. EFR3A: a new raft domain organizing protein?
      Title: EFR3A: a new raft domain organizing protein?
    3. Oncogenic KRAS is dependent upon an EFR3A-PI4KA signaling axis for potent tumorigenic activity.
      Title: Oncogenic KRAS is dependent upon an EFR3A-PI4KA signaling axis for potent tumorigenic activity.
    4. These data suggest that mammalian Efr3s contribute to the control of the phosphorylation state and, hence, desensitization of AT1a receptors, and could affect responsiveness of G-protein-coupled receptors in higher eukaryotes.
      Title: EFR3s are palmitoylated plasma membrane proteins that control responsiveness to G-protein-coupled receptors.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Pharmacogenomics in Alzheimer's disease: a genome-wide association study of response to cholinesterase inhibitors.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of EFR3 homolog A (S. cerevisiae) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0143, DKFZp781J0562

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in phosphatidylinositol phosphate biosynthetic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in protein localization to plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein EFR3 homolog A

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_028112.2 RefSeqGene

      Range
      4985..114534
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001323553.2 → NP_001310482.1  protein EFR3 homolog A isoform 2

      Status: REVIEWED

      Source sequence(s)
      BC071611, BC152442, BQ424552, BU632041, CA775398, CX165980, DB727938, HY095205
      Consensus CDS
      CCDS83328.1
      UniProtKB/TrEMBL
      A0A1B0GUZ7

    2. NM_001323554.2 → NP_001310483.1  protein EFR3 homolog A isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC092817, BC071611, BC152442, BQ424552, BU632041, CA775398, CX165980, HY095205, HY124760
      Consensus CDS
      CCDS83328.1
      UniProtKB/TrEMBL
      A0A1B0GUZ7

    3. NM_001323555.2 → NP_001310484.1  protein EFR3 homolog A isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC092817, BC071611, BC152442, BQ424552, BU632041, CA775398, CX165980, DB727938, HY095205, HY124760
      Consensus CDS
      CCDS83328.1
      UniProtKB/TrEMBL
      A0A1B0GUZ7

    4. NM_001323556.2 → NP_001310485.1  protein EFR3 homolog A isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC092817, BC071611, BC152442, BQ424552, BU632041, CA775398, CX165980
      Consensus CDS
      CCDS83328.1
      UniProtKB/TrEMBL
      A0A1B0GUZ7
      Related
      ENSP00000428086.1, ENST00000519656.1

    5. NM_001323557.2 → NP_001310486.1  protein EFR3 homolog A isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC092817, BC071611, BC152442, BQ424552, BU632041, CA775398, CX165980, DB727938
      Consensus CDS
      CCDS83328.1
      UniProtKB/TrEMBL
      A0A1B0GUZ7

    6. NM_001323558.2 → NP_001310487.1  protein EFR3 homolog A isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC092817, BC071611, BC152442, BQ424552, BU632041, CA775398, CX165980, HY095205
      UniProtKB/TrEMBL
      A0A1B0GUZ7

    7. NM_015137.6 → NP_055952.2  protein EFR3 homolog A isoform 1

      See identical proteins and their annotated locations for NP_055952.2

      Status: REVIEWED

      Source sequence(s)
      BC071611, BC152442, BQ424552, BU632041, CA775398, CX165980, HY095205
      Consensus CDS
      CCDS34942.2
      UniProtKB/Swiss-Prot
      A7MD19, Q14156, Q2VPK2, Q63HL7, Q68DX1, Q6IQ18
      UniProtKB/TrEMBL
      A0A1B0GUZ7
      Related
      ENSP00000254624.5, ENST00000254624.10

    RNA

    1. NR_136615.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC092817, BC071611, BC152442, BG392245, BQ424552, BU632041, CA775398, CX165980, DB727938, HY095205

    2. NR_136616.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC092817, BC071611, BC152442, BG392245, BQ424552, BU632041, CA775398, CX165980, HY095205

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      131904093..132013642
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421603.1 → XP_047277559.1  protein EFR3 homolog A isoform X1

      UniProtKB/TrEMBL
      A0A1B0GUZ7

    2. XM_047421604.1 → XP_047277560.1  protein EFR3 homolog A isoform X2

      UniProtKB/TrEMBL
      A0A1B0GUZ7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      133027004..133136550
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360171.1 → XP_054216146.1  protein EFR3 homolog A isoform X1

      UniProtKB/TrEMBL
      A0A1B0GUZ7
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14156.2 GenPept UniProtKB/Swiss-Prot:Q14156

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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