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EIF2B3 eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa [ Homo sapiens (human) ]

Gene ID: 8891, updated on 4-May-2015
Official Symbol
EIF2B3provided by HGNC
Official Full Name
eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDaprovided by HGNC
Primary source
HGNC:HGNC:3259
See related
Ensembl:ENSG00000070785; HPRD:09379; MIM:606273; Vega:OTTHUMG00000008585
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]
Orthologs
See EIF2B3 in MapViewer
Location:
1p34.1
Exon count:
12
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (44850522..44986722, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (45316194..45452394, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene BTB (POZ) 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 peptidylprolyl isomerase A (cyclophilin A) pseudogene Neighboring gene mitochondrial ribosomal protein S17 pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Cap-dependent Translation Initiation, organism-specific biosystem (from REACTOME)
    Cap-dependent Translation Initiation, organism-specific biosystemTranslation initiation is a complex process in which the Met-tRNAi initiator, 40S, and 60S ribosomal subunits are assembled by eukaryotic initiation factors (eIFs) into an 80S ribosome at the start c...
  • Eukaryotic Translation Initiation, organism-specific biosystem (from REACTOME)
    Eukaryotic Translation Initiation, organism-specific biosystemInitiation of translation in the majority of eukaryotic cellular mRNAs depends on the 5'-cap (m7GpppN) and involves ribosomal scanning of the 5' untranslated region (5'-UTR) for an initiating AUG sta...
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • RNA transport, organism-specific biosystem (from KEGG)
    RNA transport, organism-specific biosystemRNA transport from the nucleus to the cytoplasm is fundamental for gene expression. The different RNA species that are produced in the nucleus are exported through the nuclear pore complexes (NPCs) ...
  • RNA transport, conserved biosystem (from KEGG)
    RNA transport, conserved biosystemRNA transport from the nucleus to the cytoplasm is fundamental for gene expression. The different RNA species that are produced in the nucleus are exported through the nuclear pore complexes (NPCs) ...
  • Recycling of eIF2:GDP, organism-specific biosystem (from REACTOME)
    Recycling of eIF2:GDP, organism-specific biosystemThe active eIF2:GTP complex may be formed by direct binding of GTP to free eIF2 or by GDP-GTP exchange on the eIF2:GDP:eIF2B complex. The eIF2:GDP complex binds eIF2B forming an eIF2:GDP:eIF2B interm...
  • Translation, organism-specific biosystem (from REACTOME)
    Translation, organism-specific biosystemProtein synthesis is accomplished through the process of translation of an mRNA sequence into a polypeptide chain. This process can be divided into three distinct stages: initiation, elongation and ...
  • Translation Factors, organism-specific biosystem (from WikiPathways)
    Translation Factors, organism-specific biosystemProtein synthesis is the ultimate step of gene expression and a key control point for regulation. In particular, it enables cells to rapidly manipulate protein production without new mRNA synthesis, ...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
cellular response to stimulus IDA
Inferred from Direct Assay
more info
PubMed 
gene expression TAS
Traceable Author Statement
more info
 
negative regulation of translational initiation in response to stress ISS
Inferred from Sequence or Structural Similarity
more info
 
oligodendrocyte development IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of GTPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to glucose ISS
Inferred from Sequence or Structural Similarity
more info
 
response to heat ISS
Inferred from Sequence or Structural Similarity
more info
 
response to heat TAS
Traceable Author Statement
more info
PubMed 
response to peptide hormone ISS
Inferred from Sequence or Structural Similarity
more info
 
translation TAS
Traceable Author Statement
more info
 
translational initiation IDA
Inferred from Direct Assay
more info
PubMed 
translational initiation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
eukaryotic translation initiation factor 2B complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
translation initiation factor eIF-2B subunit gamma
Names
translation initiation factor eIF-2B subunit gamma
eIF-2B GDP-GTP exchange factor subunit gamma

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
    4968..141168
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001166588.2NP_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, DA141801, DA162797
    Consensus CDS
    CCDS53313.1
    UniProtKB/Swiss-Prot
    Q9NR50
    Related
    ENSP00000361257, OTTHUMP00000010263, ENST00000372183, OTTHUMT00000023725
    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; Nucleoside-diphosphate-sugar pyrophosphorylase involved in lipopolysaccharide biosynthesis/translation initiation factor 2B, gamma/epsilon subunits (eIF-2Bgamma/eIF-2Bepsilon) [Cell envelope biogenesis, outer membrane / Translation, ribosomal structure ...
    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_001261418.1NP_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, ENST00000620860
    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; Nucleoside-diphosphate-sugar pyrophosphorylase involved in lipopolysaccharide biosynthesis/translation initiation factor 2B, gamma/epsilon subunits (eIF-2Bgamma/eIF-2Bepsilon) [Cell envelope biogenesis, outer membrane / Translation, ribosomal structure ...
    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_020365.4NP_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, AL136380, BC018728, BF879213, DA162797, W21485
    Consensus CDS
    CCDS517.1
    UniProtKB/TrEMBL
    Q9HA31
    UniProtKB/Swiss-Prot
    Q9NR50
    Related
    ENSP00000353575, OTTHUMP00000010262, ENST00000360403, OTTHUMT00000023724
    Conserved Domains (3) summary
    cd04652
    Location:357437
    LbH_eIF2B_gamma_C; eIF-2B gamma subunit, C-terminal Left-handed parallel beta-Helix (LbH) domain: eIF-2B is a eukaryotic translation initiator, a guanine nucleotide exchange factor (GEF) composed of five different subunits (alpha, beta, gamma, delta and epsilon). eIF2B is ...
    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; Nucleoside-diphosphate-sugar pyrophosphorylase involved in lipopolysaccharide biosynthesis/translation initiation factor 2B, gamma/epsilon subunits (eIF-2Bgamma/eIF-2Bepsilon) [Cell envelope biogenesis, outer membrane / Translation, ribosomal structure ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    44850522..44986722
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542396.1XP_011540698.1  

    Conserved Domains (3) summary
    cd04652
    Location:327407
    LbH_eIF2B_gamma_C; eIF-2B gamma subunit, C-terminal Left-handed parallel beta-Helix (LbH) domain: eIF-2B is a eukaryotic translation initiator, a guanine nucleotide exchange factor (GEF) composed of five different subunits (alpha, beta, gamma, delta and epsilon). eIF2B is ...
    cd04198
    Location:3189
    eIF-2B_gamma_N; The N-terminal domain of gamma subunit of the eIF-2B is a subfamily of glycosyltransferase 2
    COG1208
    Location:4417
    GCD1; Nucleoside-diphosphate-sugar pyrophosphorylase involved in lipopolysaccharide biosynthesis/translation initiation factor 2B, gamma/epsilon subunits (eIF-2Bgamma/eIF-2Bepsilon) [Cell envelope biogenesis, outer membrane / Translation, ribosomal structure ...

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    45432292..45568970
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)