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EIF2B3 eukaryotic translation initiation factor 2B subunit gamma [ Homo sapiens (human) ]

Gene ID: 8891, updated on 4-Jul-2021

Summary

Official Symbol
EIF2B3provided by HGNC
Official Full Name
eukaryotic translation initiation factor 2B subunit gammaprovided by HGNC
Primary source
HGNC:HGNC:3259
See related
Ensembl:ENSG00000070785 MIM:606273
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
Also known as
EIF-2B; EIF2Bgamma
Summary
The protein encoded by this gene is one of the subunits of initiation factor eIF2B, which catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP. It has also been found to function as a cofactor of hepatitis C virus internal ribosome entry site-mediated translation. Mutations in this gene have been associated with leukodystrophy with vanishing white matter. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Expression
Ubiquitous expression in fat (RPKM 9.9), testis (RPKM 8.8) and 25 other tissues See more
Orthologs
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Genomic context

See EIF2B3 in Genome Data Viewer
Location:
1p34.1
Exon count:
14
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (44850522..44986641, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (45316194..45452267, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984952 Neighboring gene BTB domain containing 19 Neighboring gene RNA, U5E small nuclear 6, pseudogene Neighboring gene patched 2 Neighboring gene RNA, 5S ribosomal pseudogene 47 Neighboring gene cyclin B1 interacting protein 1 pseudogene 1 Neighboring gene mitochondrial ribosomal protein S17 pseudogene 1 Neighboring gene peptidylprolyl isomerase A pseudogene 35

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in T cell receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cytoplasmic translational initiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in hippocampus development IEA
Inferred from Electronic Annotation
more info
 
involved_in oligodendrocyte development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
involved_in response to glucose ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in response to heat ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in response to heat TAS
Traceable Author Statement
more info
 
involved_in response to peptide hormone ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in translational initiation IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
part_of eukaryotic translation initiation factor 2B complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of eukaryotic translation initiation factor 2B complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of guanyl-nucleotide exchange factor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
translation initiation factor eIF-2B subunit gamma
Names
eIF-2B GDP-GTP exchange factor subunit gamma
eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa

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_015864.1 RefSeqGene

    Range
    5095..141168
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001166588.3NP_001160060.1  translation initiation factor eIF-2B subunit gamma isoform 2

    See identical proteins and their annotated locations for NP_001160060.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' end compared to variant 1, and encodes a shorter isoform (2) with a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK024006, AL834288, AW972575, DA162797
    Consensus CDS
    CCDS53313.1
    UniProtKB/Swiss-Prot
    Q9NR50
    Related
    ENSP00000361257.3, ENST00000372183.7
    Conserved Domains (3) summary
    cd04198
    Location:3212
    eIF-2B_gamma_N; The N-terminal domain of gamma subunit of the eIF-2B is a subfamily of glycosyltransferase 2
    COG1208
    Location:4399
    GCD1; NDP-sugar pyrophosphorylase, includes eIF-2Bgamma, eIF-2Bepsilon, and LPS biosynthesis proteins [Translation, ribosomal structure and biogenesis, Cell wall/membrane/envelope biogenesis]
    cl00160
    Location:357401
    LbetaH; Left-handed parallel beta-Helix (LbetaH or LbH) domain: The alignment contains 5 turns, each containing three imperfect tandem repeats of a hexapeptide repeat motif (X-[STAV]-X-[LIV]-[GAED]-X). Proteins containing hexapeptide repeats are often enzymes ...
  2. NM_001261418.2NP_001248347.1  translation initiation factor eIF-2B subunit gamma isoform 3

    See identical proteins and their annotated locations for NP_001248347.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks the penultimate exon compared to variant 1. The resulting protein (isoform 3) is shorter compared to isoform 1.
    Source sequence(s)
    AL136380, BC018728
    Consensus CDS
    CCDS72775.1
    UniProtKB/Swiss-Prot
    Q9NR50
    Related
    ENSP00000483996.1, ENST00000620860.4
    Conserved Domains (3) summary
    cd04198
    Location:3212
    eIF-2B_gamma_N; The N-terminal domain of gamma subunit of the eIF-2B is a subfamily of glycosyltransferase 2
    COG1208
    Location:4399
    GCD1; NDP-sugar pyrophosphorylase, includes eIF-2Bgamma, eIF-2Bepsilon, and LPS biosynthesis proteins [Translation, ribosomal structure and biogenesis, Cell wall/membrane/envelope biogenesis]
    cl00160
    Location:357401
    LbetaH; Left-handed parallel beta-Helix (LbetaH or LbH) domain: The alignment contains 5 turns, each containing three imperfect tandem repeats of a hexapeptide repeat motif (X-[STAV]-X-[LIV]-[GAED]-X). Proteins containing hexapeptide repeats are often enzymes ...
  3. NM_020365.5NP_065098.1  translation initiation factor eIF-2B subunit gamma isoform 1

    See identical proteins and their annotated locations for NP_065098.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AK022399, AK024006, BC018728, BF879213, DA162797, W21485
    Consensus CDS
    CCDS517.1
    UniProtKB/Swiss-Prot
    Q9NR50
    UniProtKB/TrEMBL
    Q9HA31
    Related
    ENSP00000353575.2, ENST00000360403.7
    Conserved Domains (2) summary
    cd04198
    Location:3212
    eIF-2B_gamma_N; The N-terminal domain of gamma subunit of the eIF-2B is a subfamily of glycosyltransferase 2
    COG1208
    Location:4447
    GCD1; NDP-sugar pyrophosphorylase, includes eIF-2Bgamma, eIF-2Bepsilon, and LPS biosynthesis proteins [Translation, ribosomal structure and biogenesis, Cell wall/membrane/envelope biogenesis]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    44850522..44986641 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017002747.1XP_016858236.1  translation initiation factor eIF-2B subunit gamma isoform X3

  2. XM_017002746.1XP_016858235.1  translation initiation factor eIF-2B subunit gamma isoform X2

  3. XM_017002745.2XP_016858234.1  translation initiation factor eIF-2B subunit gamma isoform X1

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