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GSPT1 G1 to S phase transition 1 [ Homo sapiens (human) ]

Gene ID: 2935, updated on 4-Jul-2021

Summary

Official Symbol
GSPT1provided by HGNC
Official Full Name
G1 to S phase transition 1provided by HGNC
Primary source
HGNC:HGNC:4621
See related
Ensembl:ENSG00000103342 MIM:139259
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GST1; ETF3A; eRF3a; 551G9.2
Expression
Ubiquitous expression in thyroid (RPKM 16.3), colon (RPKM 15.7) and 25 other tissues See more
Orthologs
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Genomic context

See GSPT1 in Genome Data Viewer
Location:
16p13.13
Exon count:
16
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (11868128..11916654, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (11961985..12010511, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene breast cancer anti-estrogen resistance 4 Neighboring gene ribosomal L1 domain containing 1 Neighboring gene RSL1D1 divergent transcript Neighboring gene uncharacterized LOC112268177 Neighboring gene cytochrome c oxidase subunit 6C pseudogene 1 Neighboring gene nuclear pore complex interacting protein family member B2 Neighboring gene TNF receptor superfamily member 17 Neighboring gene ubiquitin like 5 pseudogene 4

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ38048, FLJ39067

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding IEA
Inferred from Electronic Annotation
more info
 
enables GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables GTPase activity TAS
Traceable Author Statement
more info
PubMed 
enables RNA binding HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables translation release factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables translation release factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
 
part_of translation release factor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
eukaryotic peptide chain release factor GTP-binding subunit ERF3A
Names
G1 to S phase transition protein 1 homolog
eukaryotic peptide chain release factor subunit 3a
eukaryotic release factor 3a

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.

mRNA and Protein(s)

  1. NM_001130006.2NP_001123478.2  eukaryotic peptide chain release factor GTP-binding subunit ERF3A isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in an internal exon, compared to variant 1, resulting in an isoform (2) that is 1 aa shorter than isoform 1.
    Source sequence(s)
    AC007216
    Consensus CDS
    CCDS45413.1
    Related
    ENSP00000408399.2, ENST00000439887.6
    Conserved Domains (2) summary
    COG5256
    Location:209633
    TEF1; Translation elongation factor EF-1alpha (GTPase) [Translation, ribosomal structure and biogenesis]
    pfam07145
    Location:6581
    PAM2; Ataxin-2 C-terminal region
  2. NM_001130007.2NP_001123479.1  eukaryotic peptide chain release factor GTP-binding subunit ERF3A isoform 3

    See identical proteins and their annotated locations for NP_001123479.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and lacks a portion of the 5' coding region, compared to variant 1. The resulting isoform (3) is shorter at the N-terminal, compared to isoform 1.
    Source sequence(s)
    AC007216, AK315267, BM666324, BT006722
    Consensus CDS
    CCDS45414.1
    UniProtKB/Swiss-Prot
    P15170
    UniProtKB/TrEMBL
    B2RCT6, Q7KZX8
    Related
    ENSP00000399539.2, ENST00000420576.6
    Conserved Domains (1) summary
    COG5256
    Location:72496
    TEF1; Translation elongation factor EF-1alpha (GTPase) [Translation, ribosomal structure and biogenesis]
  3. NM_002094.4NP_002085.3  eukaryotic peptide chain release factor GTP-binding subunit ERF3A isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC007216
    Consensus CDS
    CCDS45412.1
    Related
    ENSP00000398131.2, ENST00000434724.7
    Conserved Domains (2) summary
    COG5256
    Location:210634
    TEF1; Translation elongation factor EF-1alpha (GTPase) [Translation, ribosomal structure and biogenesis]
    pfam07145
    Location:6481
    PAM2; Ataxin-2 C-terminal region

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_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    11868128..11916654 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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