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HBS1L HBS1 like translational GTPase [ Homo sapiens (human) ]

Gene ID: 10767, updated on 17-Jun-2019

Summary

Official Symbol
HBS1Lprovided by HGNC
Official Full Name
HBS1 like translational GTPaseprovided by HGNC
Primary source
HGNC:HGNC:4834
See related
Ensembl:ENSG00000112339 MIM:612450
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
ERFS; HBS1; EF-1a; eRF3c; HSPC276
Summary
This gene encodes a member of the GTP-binding elongation factor family. It is expressed in multiple tissues with the highest expression in heart and skeletal muscle. The intergenic region of this gene and the MYB gene has been identified to be a quantitative trait locus (QTL) controlling fetal hemoglobin level, and this region influnces erythrocyte, platelet, and monocyte counts as well as erythrocyte volume and hemoglobin content. DNA polymorphisms at this region associate with fetal hemoglobin levels and pain crises in sickle cell disease. A single nucleotide polymorphism in exon 1 of this gene is significantly associated with severity in beta-thalassemia/Hemoglobin E. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, May 2009]
Expression
Ubiquitous expression in bone marrow (RPKM 6.5), brain (RPKM 5.4) and 25 other tissues See more
Orthologs

Genomic context

See HBS1L in Genome Data Viewer
Location:
6q23.3
Exon count:
20
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (134960378..135054826, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (135281516..135376036, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene mediator of cell motility 1 pseudogene 2 Neighboring gene aldehyde dehydrogenase 8 family member A1 Neighboring gene microRNA 3662 Neighboring gene uncharacterized LOC105378010 Neighboring gene uncharacterized LOC105378011 Neighboring gene MYB proto-oncogene, transcription factor

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
NHGRI GWA Catalog
A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.
NHGRI GWA Catalog
A genome-wide association study of red blood cell traits using the electronic medical record.
NHGRI GWA Catalog
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
NHGRI GWA Catalog
A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.
NHGRI GWA Catalog
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
Genome wide association analysis of a founder population identified TAF3 as a gene for MCHC in humans.
NHGRI GWA Catalog
Genome wide association study of fetal hemoglobin in sickle cell anemia in Tanzania.
NHGRI GWA Catalog
Genome-wide association study of hematological and biochemical traits in a Japanese population.
NHGRI GWA Catalog
GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
NHGRI GWA Catalog
HbA2 levels in normal adults are influenced by two distinct genetic mechanisms.
NHGRI GWA Catalog
Identification of nine novel loci associated with white blood cell subtypes in a Japanese population.
NHGRI GWA Catalog
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
NHGRI GWA Catalog
Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.
NHGRI GWA Catalog
New gene functions in megakaryopoiesis and platelet formation.
NHGRI GWA Catalog
Sequence variants in three loci influence monocyte counts and erythrocyte volume.
NHGRI GWA Catalog
Seventy-five genetic loci influencing the human red blood cell.
NHGRI GWA Catalog
Variation at 3p24.1 and 6q23.3 influences the risk of Hodgkin's lymphoma.
NHGRI GWA Catalog

Pathways from BioSystems

  • Deadenylation-dependent mRNA decay, organism-specific biosystem (from REACTOME)
    Deadenylation-dependent mRNA decay, organism-specific biosystemAfter undergoing rounds of translation, mRNA is normally destroyed by the deadenylation-dependent pathway. Though the trigger is unclear, deadenylation likely proceeds in two steps: one catalyzed by...
  • 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...
  • Legionellosis, organism-specific biosystem (from KEGG)
    Legionellosis, organism-specific biosystemLegionellosis is a potentially fatal infectious disease caused by the bacterium Legionella pneumophila and other legionella species. Two distinct clinical and epidemiological syndromes are associated...
  • Legionellosis, conserved biosystem (from KEGG)
    Legionellosis, conserved biosystemLegionellosis is a potentially fatal infectious disease caused by the bacterium Legionella pneumophila and other legionella species. Two distinct clinical and epidemiological syndromes are associated...
  • mRNA decay by 3' to 5' exoribonuclease, organism-specific biosystem (from REACTOME)
    mRNA decay by 3' to 5' exoribonuclease, organism-specific biosystemThe degradation of mRNA from 3' to 5' occurs in two steps. First, the exosome exoribonuclease complex binds the 3' end of the oligoadenylated mRNA and hydrolyzes it from 3' to 5', yielding ribonucleo...
  • mRNA surveillance pathway, organism-specific biosystem (from KEGG)
    mRNA surveillance pathway, organism-specific biosystemThe mRNA surveillance pathway is a quality control mechanism that detects and degrades abnormal mRNAs. These pathways include nonsense-mediated mRNA decay (NMD), nonstop mRNA decay (NSD), and no-go ...
  • mRNA surveillance pathway, conserved biosystem (from KEGG)
    mRNA surveillance pathway, conserved biosystemThe mRNA surveillance pathway is a quality control mechanism that detects and degrades abnormal mRNAs. These pathways include nonsense-mediated mRNA decay (NMD), nonstop mRNA decay (NSD), and no-go ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686L13262

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IEA
Inferred from Electronic Annotation
more info
 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
translation elongation factor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay TAS
Traceable Author Statement
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
translation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
translational elongation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
membrane HDA PubMed 

General protein information

Preferred Names
HBS1-like protein
Names
ERF3-similar protein
Hsp70 subfamily B suppressor 1-like protein
eRF3 family member

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_012002.1 RefSeqGene

    Range
    5001..99521
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001145158.2NP_001138630.1  HBS1-like protein isoform 2

    See identical proteins and their annotated locations for NP_001138630.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. This results in a shorter protein (isoform 2) compared to isoform 1.
    Source sequence(s)
    AB028961, AJ459826, AK295545, AL445190, BC040849, DB051030
    Consensus CDS
    CCDS47479.1
    UniProtKB/Swiss-Prot
    Q9Y450
    Related
    ENSP00000356800.2, ENST00000367826.6
    Conserved Domains (5) summary
    cd01883
    Location:220439
    EF1_alpha; Elongation Factor 1-alpha (EF1-alpha) protein family
    COG5256
    Location:214642
    TEF1; Translation elongation factor EF-1alpha (GTPase) [Translation, ribosomal structure and biogenesis]
    pfam08938
    Location:581
    HBS1_N; HBS1 N-terminus
    cd16267
    Location:445527
    HBS1-like_II; Domain II of Hbs1-like proteins
    cd04093
    Location:532640
    HBS1_C_III; C-terminal domain of Hsp70 subfamily B suppressor 1 (HBS1)
  2. NM_001145207.2NP_001138679.1  HBS1-like protein isoform 3

    See identical proteins and their annotated locations for NP_001138679.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate exon for its 3' coding region and 3' UTR, compared to variant (1). This results in a protein (isoform 3) with a much shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AJ459827
    Consensus CDS
    CCDS47480.1
    UniProtKB/Swiss-Prot
    Q9Y450
    Related
    ENSP00000356796.5, ENST00000367822.9
    Conserved Domains (1) summary
    pfam08938
    Location:54123
    HBS1_N; HBS1 N-terminus
  3. NM_001363686.2NP_001350615.1  HBS1-like protein isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate exon compared to variant 1. The resulting isoform (4) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AL353596, AL445190
    Consensus CDS
    CCDS87443.1
    Conserved Domains (1) summary
    COG5256
    Location:92520
    TEF1; Translation elongation factor EF-1alpha (GTPase) [Translation, ribosomal structure and biogenesis]
  4. NM_006620.4NP_006611.1  HBS1-like protein isoform 1

    See identical proteins and their annotated locations for NP_006611.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AL445190, BC001465, DB051030
    Consensus CDS
    CCDS5173.1
    UniProtKB/Swiss-Prot
    Q9Y450
    UniProtKB/TrEMBL
    D9YZV0
    Related
    ENSP00000356811.5, ENST00000367837.9
    Conserved Domains (2) summary
    COG5256
    Location:256684
    TEF1; Translation elongation factor EF-1alpha (GTPase) [Translation, ribosomal structure and biogenesis]
    pfam08938
    Location:54129
    HBS1_N; HBS1 N-terminus

RefSeqs of Annotated Genomes: Homo sapiens 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_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    134960378..135054826 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010192.1XP_016865681.1  HBS1-like protein isoform X1

RNA

  1. XR_245499.2 RNA Sequence

  2. XR_002956256.1 RNA Sequence

  3. XR_002956257.1 RNA Sequence

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