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Aliases for HBS1L Gene

Aliases for HBS1L Gene

  • HBS1-Like Translational GTPase 2 3
  • ERFS 3 4 6
  • ERF3 Family Member 2 3
  • KIAA1038 4 6
  • 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
  • HBS1-Like Protein 3
  • HSPC276 3
  • EF-1a 3
  • ERF3c 3

External Ids for HBS1L Gene

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

Genomic Location for HBS1L Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HBS1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HBS1L Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys47, Lys62, Lys114, Lys622, and Lys657

No data available for DME Specific Peptides for HBS1L Gene

Domains for HBS1L Gene

UniProtKB/Swiss-Prot:

HBS1L_HUMAN
Domain:
  • Contains 1 tr-type G (guanine nucleotide-binding) domain.:
    • Q9Y450
Family:
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family.:
    • Q9Y450
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 --
GO:0003924 GTPase activity IEA --
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with HBS1L: view

Phenotypes for HBS1L Gene

GenomeRNAi human phenotypes for HBS1L:
genes like me logo Genes that share phenotypes with HBS1L: view

miRNA for HBS1L Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for HBS1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 19946888
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with HBS1L: view

Pathways 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:0006184 obsolete GTP catabolic process --
GO:0006412 translation TAS 9872408
GO:0006414 translational elongation IEA --
GO:0007165 signal transduction TAS 9872408
genes like me logo Genes that share ontologies with HBS1L: view

Compounds for HBS1L Gene

(1) HMDB Compounds for HBS1L Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine triphosphate
  • 5'-GTP
86-01-1
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

Integrated Proteomics: protein expression 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 expressions with HBS1L: view

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
chimpanzee
(Pan troglodytes)
Mammalia HBS1L 36
  • 99.66 (n)
  • 99.71 (a)
HBS1L 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HBS1L 36
  • 92.64 (n)
  • 92.84 (a)
HBS1L 37
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HBS1L 36
  • 91.65 (n)
  • 92.09 (a)
HBS1L 37
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hbs1l 36
  • 85.88 (n)
  • 89.41 (a)
Hbs1l 16
Hbs1l 37
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HBS1L 37
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 91 (a)
OneToMany
-- 37
  • 85 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Hbs1l 36
  • 85.43 (n)
  • 89.66 (a)
chicken
(Gallus gallus)
Aves HBS1L 36
  • 78.9 (n)
  • 82.23 (a)
HBS1L 37
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HBS1L 37
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hbs1l 36
  • 67.72 (n)
  • 65.08 (a)
Str.10263 36
zebrafish
(Danio rerio)
Actinopterygii hbs1l 36
  • 66.93 (n)
  • 73.16 (a)
hbs1l 37
  • 73 (a)
OneToOne
wufc23c07 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002603 36
  • 52 (n)
  • 52.5 (a)
fruit fly
(Drosophila melanogaster)
Insecta HBS1 36
  • 53.28 (n)
  • 52 (a)
HBS1 37
  • 48 (a)
OneToOne
HBS1 38
  • 52 (a)
worm
(Caenorhabditis elegans)
Secernentea K07A12.4 36
  • 53.42 (n)
  • 48.24 (a)
K07A12.4 37
  • 40 (a)
OneToOne
K07A12.4 38
  • 42 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR221C 36
  • 46.91 (n)
  • 37.53 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HBS1 36
  • 49.8 (n)
  • 40.9 (a)
HBS1 39
SUP35 37
  • 29 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A07799g 36
  • 49.73 (n)
  • 39.86 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03981 36
  • 50.23 (n)
  • 46.73 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC25B2.01 36
  • 51.49 (n)
  • 43.48 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10924 37
  • 48 (a)
OneToOne
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 MAF
rs13064 -- 134,966,395(+) TCTTT(A/G)AAGTC synonymous-codon, reference, nc-transcript-variant
rs949547 -- 135,022,361(+) AGACT(C/G)TATAT intron-variant
rs952674 -- 135,028,019(+) GCCTC(A/G)GCCTC intron-variant
rs978036 -- 135,021,765(+) TACAA(C/T)TGGCT intron-variant
rs987690 -- 135,029,241(+) TACAA(A/G)TTCAA 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

Relevant External Links for HBS1L Gene

HapMap Linkage Disequilibrium report
HBS1L
Human Gene Mutation Database (HGMD)
HBS1L
Locus Specific Mutation Databases (LSDB)
HBS1L

Disorders for HBS1L Gene

(3) University of Copenhagen DISEASES for HBS1L Gene

Relevant External Links for HBS1L

Genetic Association Database (GAD)
HBS1L
Human Genome Epidemiology (HuGE) Navigator
HBS1L
genes like me logo Genes that share disorders with HBS1L: view

No data available for UniProtKB/Swiss-Prot 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
  2. Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10470851) Kikuno R. … Ohara O. (DNA Res. 1999) 3 4
  3. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for HBS1L Gene

Sources for HBS1L Gene

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