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Aliases for HBS1L Gene

Aliases for HBS1L Gene

  • HBS1 Like Translational GTPase 2 3 5
  • HBS1-Like Translational GTPase 2 3
  • ERF3 Family Member 2 3
  • ERFS 3 4
  • HBS1 3 4
  • Hsp70 Subfamily B Suppressor 1-Like Protein 3
  • HBS1 (S. Cerevisiae)-Like 2
  • HBS1-Like (S. Cerevisiae) 2
  • ERF3-Similar Protein 3
  • KIAA1038 4
  • HSPC276 3
  • EF-1a 3
  • ERF3c 3

External Ids for HBS1L Gene

Previous GeneCards Identifiers for HBS1L Gene

  • GC06M135128
  • GC06M135216
  • GC06M135262
  • GC06M135323
  • GC06M132845
  • GC06M135281

Summaries for HBS1L Gene

Entrez Gene Summary for HBS1L Gene

  • 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]

GeneCards Summary for HBS1L Gene

HBS1L (HBS1 Like Translational GTPase) is a Protein Coding gene. Diseases associated with HBS1L include sickle cell disease and thalassemia. Among its related pathways are Legionellosis and mRNA surveillance pathway. GO annotations related to this gene include GTP binding and translation elongation factor activity. An important paralog of this gene is GSPT1.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HBS1L Gene

Genomics for HBS1L Gene

Regulatory Elements for HBS1L Gene

Enhancers for HBS1L Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around HBS1L on UCSC Golden Path with GeneCards custom track

Genomic Location for HBS1L Gene

Chromosome:
6
Start:
134,960,378 bp from pter
End:
135,103,056 bp from pter
Size:
142,679 bases
Orientation:
Minus strand

Genomic View for HBS1L Gene

Genes around HBS1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HBS1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HBS1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HBS1L Gene

Proteins for HBS1L Gene

  • Protein details for HBS1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y450-HBS1L_HUMAN
    Recommended name:
    HBS1-like protein
    Protein Accession:
    Q9Y450
    Secondary Accessions:
    • B7Z365
    • Q4VX89
    • Q4VX90
    • Q5T7G3
    • Q8NDW9
    • Q9UPW3

    Protein attributes for HBS1L Gene

    Size:
    684 amino acids
    Molecular mass:
    75473 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for HBS1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HBS1L Gene

Proteomics data for HBS1L Gene at MOPED

Post-translational modifications for HBS1L Gene

  • Ubiquitination at Lys 62, Lys 114, Lys 622, and Lys 657
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HBS1L Gene

Domains & Families for HBS1L Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y450

UniProtKB/Swiss-Prot:

HBS1L_HUMAN :
  • Contains 1 tr-type G (guanine nucleotide-binding) domain.
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family.
Domain:
  • Contains 1 tr-type G (guanine nucleotide-binding) domain.
Family:
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family.
genes like me logo Genes that share domains with HBS1L: view

No data available for Gene Families for HBS1L Gene

Function for HBS1L Gene

Gene Ontology (GO) - Molecular Function for HBS1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003746 translation elongation factor activity IEA --
genes like me logo Genes that share ontologies with HBS1L: view
genes like me logo Genes that share phenotypes with HBS1L: view

Animal Models for HBS1L Gene

MGI Knock Outs for HBS1L:

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HBS1L Gene

Localization for HBS1L Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HBS1L Gene COMPARTMENTS Subcellular localization image for HBS1L gene
Compartment Confidence
extracellular 5
cytosol 4
nucleus 3
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for HBS1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with HBS1L: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for HBS1L Gene

Pathways & Interactions for HBS1L Gene

genes like me logo Genes that share pathways with HBS1L: view

Pathways by source for HBS1L Gene

2 KEGG pathways for HBS1L Gene

Gene Ontology (GO) - Biological Process for HBS1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction TAS 9872408
GO:0032790 ribosome disassembly IBA --
genes like me logo Genes that share ontologies with HBS1L: view

No data available for SIGNOR curated interactions for HBS1L Gene

Drugs & Compounds for HBS1L Gene

(1) Drugs for HBS1L Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with HBS1L: view

Transcripts for HBS1L Gene

Unigene Clusters for HBS1L Gene

HBS1-like (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HBS1L Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^
SP1: - - - -
SP2: -
SP3:
SP4:
SP5: - - - -
SP6: - - - -
SP7: -

ExUns: 20
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for HBS1L Gene

GeneLoc Exon Structure for
HBS1L
ECgene alternative splicing isoforms for
HBS1L

Expression for HBS1L Gene

mRNA expression in normal human tissues for HBS1L Gene

Protein differential expression in normal tissues from HIPED for HBS1L Gene

This gene is overexpressed in Peripheral blood mononuclear cells (14.8), Plasma (8.0), and Pancreas (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for HBS1L Gene



SOURCE GeneReport for Unigene cluster for HBS1L Gene Hs.378532

mRNA Expression by UniProt/SwissProt for HBS1L Gene

Q9Y450-HBS1L_HUMAN
Tissue specificity: Detected in heart, brain, placenta, liver, muscle, kidney and pancreas.
genes like me logo Genes that share expression patterns with HBS1L: view

Protein tissue co-expression partners for HBS1L Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for HBS1L Gene

Orthologs for HBS1L Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HBS1L Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HBS1L 35
  • 92.64 (n)
  • 92.84 (a)
HBS1L 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HBS1L 35
  • 91.65 (n)
  • 92.09 (a)
HBS1L 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hbs1l 35
  • 85.88 (n)
  • 89.41 (a)
Hbs1l 36
  • 89 (a)
OneToOne
Hbs1l 16
chimpanzee
(Pan troglodytes)
Mammalia HBS1L 35
  • 99.66 (n)
  • 99.71 (a)
HBS1L 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 85 (a)
OneToMany
-- 36
  • 91 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia HBS1L 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hbs1l 35
  • 85.43 (n)
  • 89.66 (a)
chicken
(Gallus gallus)
Aves HBS1L 35
  • 78.9 (n)
  • 82.23 (a)
HBS1L 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HBS1L 36
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10263 35
hbs1l 35
  • 67.72 (n)
  • 65.08 (a)
zebrafish
(Danio rerio)
Actinopterygii hbs1l 35
  • 66.93 (n)
  • 73.16 (a)
wufc23c07 35
hbs1l 36
  • 73 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta HBS1 37
  • 52 (a)
HBS1 35
  • 53.28 (n)
  • 52 (a)
HBS1 36
  • 48 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002603 35
  • 52 (n)
  • 52.5 (a)
worm
(Caenorhabditis elegans)
Secernentea K07A12.4 37
  • 42 (a)
K07A12.4 35
  • 53.42 (n)
  • 48.24 (a)
K07A12.4 36
  • 40 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR221C 35
  • 46.91 (n)
  • 37.53 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A07799g 35
  • 49.73 (n)
  • 39.86 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HBS1 38
SUP35 36
  • 29 (a)
OneToMany
HBS1 35
  • 49.8 (n)
  • 40.9 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03981 35
  • 50.23 (n)
  • 46.73 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10924 36
  • 48 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC25B2.01 35
  • 51.49 (n)
  • 43.48 (a)
Species with no ortholog for HBS1L:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HBS1L Gene

ENSEMBL:
Gene Tree for HBS1L (if available)
TreeFam:
Gene Tree for HBS1L (if available)

Paralogs for HBS1L Gene

Paralogs for HBS1L Gene

Pseudogenes.org Pseudogenes for HBS1L Gene

genes like me logo Genes that share paralogs with HBS1L: view

Variants for HBS1L Gene

Sequence variations from dbSNP and Humsavar for HBS1L Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs4435957 - 134,986,171(+) AAAAC(C/G/T)TACAT nc-transcript-variant, reference, missense
rs1014020 -- 135,013,288(+) CTCTG(A/C)CAGTC intron-variant
rs1014021 -- 135,013,462(+) ATAAG(A/G)TTAGA intron-variant
rs1023179 -- 135,022,691(+) TTTCA(A/T)TGAAA intron-variant
rs1041480 -- 135,051,938(+) ATAAT(G/T)GGCAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HBS1L Gene

Variant ID Type Subtype PubMed ID
nsv464063 CNV Gain 19166990
esv2672751 CNV Deletion 23128226
esv275200 CNV Gain+Loss 21479260
nsv886684 CNV Loss 21882294
esv2656813 CNV Deletion 23128226

Variation tolerance for HBS1L Gene

Residual Variation Intolerance Score: 86.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.09; 60.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HBS1L Gene

HapMap Linkage Disequilibrium report
HBS1L
Human Gene Mutation Database (HGMD)
HBS1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HBS1L Gene

Disorders for HBS1L Gene

MalaCards: The human disease database

(4) MalaCards diseases for HBS1L Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
sickle cell disease
  • hemoglobin s disease
thalassemia
  • sickle-cell thalassemia with crisis
sickle cell anemia
  • drepanocytosis
legionellosis
  • pontiac fever
- elite association - COSMIC cancer census association via MalaCards
Search HBS1L in MalaCards View complete list of genes associated with diseases

Relevant External Links for HBS1L

Genetic Association Database (GAD)
HBS1L
Human Genome Epidemiology (HuGE) Navigator
HBS1L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HBS1L
genes like me logo Genes that share disorders with HBS1L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HBS1L Gene

Publications for HBS1L Gene

  1. The product of the mammalian orthologue of the Saccharomyces cerevisiae HBS1 gene is phylogenetically related to eukaryotic release factor 3 (eRF3) but does not carry eRF3-like activity. (PMID: 9872408) Wallrapp C. … Jean-Jean O. (FEBS Lett. 1998) 2 3 4 23 67
  2. The Hbs1-Dom34 protein complex functions in non-stop mRNA decay in mammalian cells. (PMID: 23667253) Saito S. … Hoshino S. (J. Biol. Chem. 2013) 2 3
  3. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for HBS1L Gene

Sources for HBS1L Gene

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