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EFR3A EFR3 homolog A [ Homo sapiens (human) ]

Gene ID: 23167, updated on 1-Jun-2020

Summary

Official Symbol
EFR3Aprovided by HGNC
Official Full Name
EFR3 homolog Aprovided by HGNC
Primary source
HGNC:HGNC:28970
See related
Ensembl:ENSG00000132294 MIM:611798
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

Genomic context

See EFR3A in Genome Data Viewer
Location:
8q24.22
Exon count:
26
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (131904093..132013642)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (132916356..133025889)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene RNA binding motif protein 45 pseudogene Neighboring gene uncharacterized LOC107986976 Neighboring gene otoconin 90 Neighboring gene HERV-H LTR-associating 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Phenotypes

NHGRI GWAS Catalog

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

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0143, DKFZp781J0562

Gene Ontology Provided by GOA

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

NCBI Reference Sequences (RefSeq)

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_001323553.2NP_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/Swiss-Prot
    Q14156
  2. NM_001323554.2NP_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/Swiss-Prot
    Q14156
  3. NM_001323555.2NP_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/Swiss-Prot
    Q14156
  4. NM_001323556.2NP_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/Swiss-Prot
    Q14156
    Related
    ENSP00000428086.1, ENST00000519656.1
  5. NM_001323557.2NP_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/Swiss-Prot
    Q14156
  6. NM_001323558.2NP_001310487.1  protein EFR3 homolog A isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC092817, BC071611, BC152442, BQ424552, BU632041, CA775398, CX165980, HY095205
    UniProtKB/Swiss-Prot
    Q14156
  7. NM_015137.6NP_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
    Q14156
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

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

RNA

  1. XR_002956625.1 RNA Sequence

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