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Aliases for HBS1L Gene

Aliases for HBS1L Gene

  • HBS1 Like Translational GTPase 2 3 5
  • ERF3 Family Member 2 3
  • ERFS 3 4
  • HBS1 3 4
  • Hsp70 Subfamily B Suppressor 1-Like Protein 3
  • HBS1-Like Translational GTPase 2
  • HBS1 (S. Cerevisiae)-Like 2
  • HBS1-Like (S. Cerevisiae) 2
  • ERF3-Similar Protein 3
  • HBS1-Like 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 Sickle Cell Anemia. Among its related pathways are Gene Expression and Deadenylation-dependent mRNA decay. Gene Ontology (GO) annotations related to this gene include GTP binding and translation elongation factor activity. An important paralog of this gene is GSPT2.

Additional gene information for HBS1L Gene

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

Genomics for HBS1L Gene

GeneHancer (GH) Regulatory Elements for HBS1L Gene

Promoters and enhancers for HBS1L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I135052 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 555.1 +48.9 48884 3.7 PKNOX1 SMAD1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 HBS1L PIR58476 ENSG00000232876 ALDH8A1 MYB MYB-AS1 AHI1 GC06M135032
GH06I135102 Enhancer 1.1 Ensembl ENCODE dbSUPER 550.8 -0.8 -836 2.7 RB1 CEBPG ATF7 RUNX3 IKZF2 NR2F1 CBFA2T3 TRIM22 CEBPB ELF1 HBS1L ALDH8A1 LOC105378010
GH06I135100 Enhancer 0.2 dbSUPER 550.8 +1.9 1888 0.8 HBS1L MYB MYB-AS1 ALDH8A1 ENSG00000232876
GH06I135073 Enhancer 1.1 ENCODE dbSUPER 12 +28.4 28350 1.8 HDGF HDAC1 PKNOX1 ATF1 ARNT CHAMP1 TCF12 ZNF766 EGR1 IKZF2 ALDH8A1 HBS1L MYB ENSG00000232876
GH06I135179 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 3.2 -79.9 -79894 7 ARNT SIN3A IRF4 ZNF766 ZNF213 ZNF143 ZNF548 KLF13 ZNF263 SP3 MYB GC06P135183 GC06P135181 ENSG00000224374 ENSG00000232876 HBS1L AHI1 GC06P135185
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HBS1L on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HBS1L gene promoter:

Genomic Locations for HBS1L Gene

Genomic Locations for HBS1L Gene
chr6:134,960,378-135,103,056
(GRCh38/hg38)
Size:
142,679 bases
Orientation:
Minus strand
chr6:135,281,516-135,424,194
(GRCh37/hg19)

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

    Three dimensional structures from OCA and Proteopedia for HBS1L Gene

    Alternative splice isoforms for HBS1L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HBS1L Gene

Post-translational modifications for HBS1L Gene

  • Ubiquitination at posLast=6262, posLast=114114, posLast=622622, and isoforms=4657
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HBS1L Gene

Domains & Families for HBS1L Gene

Gene Families for HBS1L Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Graphical View of Domain Structure for InterPro Entry

Q9Y450

UniProtKB/Swiss-Prot:

HBS1L_HUMAN :
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family.
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

Function for HBS1L Gene

Phenotypes From GWAS Catalog 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 IBA --
GO:0005515 protein binding IPI --
GO:0005525 GTP binding TAS,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

CRISPR Products

Inhibitory RNA 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HBS1L gene
Compartment Confidence
extracellular 5
cytosol 5
nucleus 3
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear bodies (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HBS1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IBA --
GO:0005829 cytosol TAS --
GO:0016020 membrane HDA,IEA 19946888
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome HDA,IDA 19056867
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

Gene Ontology (GO) - Biological Process for HBS1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation TAS 9872408
GO:0006414 translational elongation IEA --
GO:0007165 signal transduction TAS 9872408
GO:0043928 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay TAS --
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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for HBS1L Gene



Protein tissue co-expression partners for HBS1L Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HBS1L Gene:

HBS1L

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.

Evidence on tissue expression from TISSUES for HBS1L Gene

  • Nervous system(4.9)
  • Skin(2)
genes like me logo Genes that share expression patterns with HBS1L: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia HBS1L 33 34
  • 99.66 (n)
cow
(Bos Taurus)
Mammalia HBS1L 33 34
  • 92.64 (n)
dog
(Canis familiaris)
Mammalia HBS1L 33 34
  • 91.65 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 91 (a)
OneToMany
-- 34
  • 85 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia HBS1L 34
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hbs1l 33 16 34
  • 85.88 (n)
rat
(Rattus norvegicus)
Mammalia Hbs1l 33
  • 85.43 (n)
chicken
(Gallus gallus)
Aves HBS1L 33 34
  • 78.9 (n)
lizard
(Anolis carolinensis)
Reptilia HBS1L 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hbs1l 33
  • 67.72 (n)
Str.10263 33
zebrafish
(Danio rerio)
Actinopterygii hbs1l 33 34
  • 66.93 (n)
wufc23c07 33
fruit fly
(Drosophila melanogaster)
Insecta HBS1 35 33 34
  • 53.28 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002603 33
  • 52 (n)
worm
(Caenorhabditis elegans)
Secernentea K07A12.4 35 33 34
  • 53.42 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HBS1 33 36
  • 49.8 (n)
SUP35 34
  • 29 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A07799g 33
  • 49.73 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR221C 33
  • 46.91 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC25B2.01 33
  • 51.49 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03981 33
  • 50.23 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10924 34
  • 48 (a)
OneToOne
Species where no ortholog for HBS1L was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs28384513 uncertain-significance, not provided 135,055,071(-) T/C/G upstream_transcript_variant
rs1000039300 -- 134,991,942(-) C/A genic_downstream_transcript_variant, intron_variant
rs1000061290 -- 135,039,805(-) G/C intron_variant
rs1000119348 -- 134,978,379(-) T/G genic_downstream_transcript_variant, intron_variant
rs1000177128 -- 135,037,990(-) T/G coding_sequence_variant, intron_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
esv2656813 CNV deletion 23128226
esv2672751 CNV deletion 23128226
esv275200 CNV gain+loss 21479260
esv3571412 CNV loss 25503493
esv3610889 CNV loss 21293372
nsv1034427 CNV loss 25217958
nsv464063 CNV gain 19166990
nsv604723 CNV gain 21841781
nsv950511 CNV duplication 24416366
nsv981187 CNV duplication 23825009

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)

Additional Variant Information for HBS1L Gene

Human Gene Mutation Database (HGMD)
HBS1L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HBS1L

SNP Genotyping and Copy Number Assay Products

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

Disorders for HBS1L Gene

MalaCards: The human disease database

(7) MalaCards diseases for HBS1L Gene - From: HGMD, DISEASES, and GeneCards

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

Additional Disease Information for HBS1L

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 letters 1998) 2 3 4 22 58
  2. The Hbs1-Dom34 protein complex functions in non-stop mRNA decay in mammalian cells. (PMID: 23667253) Saito S … Hoshino S (The Journal of biological chemistry 2013) 2 3 58
  3. A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans. (PMID: 22423221) Qayyum R … Reiner AP (PLoS genetics 2012) 3 44 58
  4. Genetics of fetal hemoglobin in Tanzanian and British patients with sickle cell anemia. (PMID: 21068433) Makani J … Thein SL (Blood 2011) 3 44 58
  5. Identification of nine novel loci associated with white blood cell subtypes in a Japanese population. (PMID: 21738478) Okada Y … Kamatani N (PLoS genetics 2011) 3 44 58

Products for HBS1L Gene

Sources for HBS1L Gene

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