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 count... See more...

Aliases for HBS1L Gene

Aliases for HBS1L Gene

  • HBS1 Like Translational GTPase 2 3 5
  • ERFS 2 3 4
  • HBS1 2 3 4
  • ERF3 Family Member 2 3
  • HBS1-Like Protein 3 4
  • KIAA1038 2 4
  • HSPC276 2 3
  • EF-1a 2 3
  • ERF3c 2 3
  • 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
  • DKFZp434g247 2
  • HBS1L 5

External Ids for HBS1L Gene

Previous GeneCards Identifiers for HBS1L Gene

  • GC06M134904
  • 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 Beta-Thalassemia. 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 GSPT1.

Additional gene information for HBS1L Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HBS1L Gene

Genomics for HBS1L Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH06J135052 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 605.1 +48.9 48884 3.7 CREB1 GATAD2A ATF7 PRDM10 ZNF629 REST TFE3 LEF1 IKZF1 NFKBIZ HBS1L ENSG00000232876 piR-35431 ALDH8A1 MYB MYB-AS1 AHI1 lnc-ALDH8A1-2
GH06J135100 Enhancer 1 Ensembl ENCODE dbSUPER 600.7 -0.2 -245 5 TCF12 IKZF2 TRIM22 HMBOX1 RELB RUNX3 ELF1 NBN IKZF1 NR2F1 HBS1L ALDH8A1 MYB MYB-AS1 lnc-MYB-7 lnc-MYB-8
GH06J135027 Promoter 0.3 EPDnew 600.2 +75.9 75901 0.1 HBS1L lnc-ALDH8A1-2 MIR3662 ALDH8A1
GH06J135072 Enhancer 1.2 Ensembl ENCODE dbSUPER 12 +29.0 28953 3 CTCF REST LEF1 IKZF1 JUND MTA2 PKNOX1 MTA1 NR2C1 IKZF2 ALDH8A1 HBS1L MYB piR-35431 lnc-MYB-8
GH06J135016 Enhancer 0.8 Ensembl dbSUPER 16.5 +81.8 81755 10.6 IKZF2 PKNOX1 ARID3A RELB RUNX3 ZNF316 MAFF MAFK MAFG BCL11A ALDH8A1 HBS1L ENSG00000232876 AHI1 lnc-ALDH8A1-2 MIR3662
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HBS1L on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HBS1L

Top Transcription factor binding sites by QIAGEN in the HBS1L gene promoter:
  • CUTL1
  • E4BP4
  • GATA-1
  • GATA-3
  • Lhx3a
  • LHX3b
  • Lmo2
  • Nkx2-5
  • POU3F1
  • TGIF

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)
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

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

No data available for DME Specific Peptides for HBS1L Gene

Domains & Families for HBS1L Gene

Gene Families for HBS1L Gene

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

Protein Domains for HBS1L Gene

Suggested Antigen Peptide Sequences for HBS1L Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59477, highly similar to HBS1-like protein (B7Z1K2_HUMAN)
  • cDNA FLJ52343, highly similar to HBS1-like protein (B7Z524_HUMAN)
  • HBS1-like (S. cerevisiae) (D9YZV0_HUMAN)
  • ERFS (HBS1L_HUMAN)
  • HBS1-like (S. cerevisiae) (Q5T7G1_HUMAN)

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:0000166 nucleotide binding IEA --
GO:0003746 translation elongation factor activity IEA --
GO:0003924 GTPase activity IBA 21873635
GO:0005515 protein binding IPI 31515488
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 Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HBS1L

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , 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
cytosol 5
extracellular 4
nucleus 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
golgi apparatus 2
peroxisome 1
endosome 1
lysosome 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:0005829 cytosol TAS --
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome HDA 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 IBA 21873635
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

mRNA/cDNA for HBS1L Gene

4 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HBS1L

Clone 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

Expression for HBS1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for HBS1L Gene



Protein tissue co-expression partners for HBS1L Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(3.1)
  • Kidney(2.9)
  • Muscle(2.7)
  • Heart(2.6)
  • Liver(2.6)
  • Blood(2.6)
  • Bone marrow(2.5)
  • Intestine(2.5)
  • Lung(2.3)
  • Spleen(2.2)
  • Lymph node(2.2)
  • Thyroid gland(2.2)
  • Eye(2.1)
  • Stomach(2.1)
  • Bone(2.1)
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 30 31
  • 99.66 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HBS1L 30 31
  • 92.64 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HBS1L 30 31
  • 91.65 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 91 (a)
OneToMany
-- 31
  • 85 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia HBS1L 31
  • 87 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Hbs1l 30 17 31
  • 85.88 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hbs1l 30
  • 85.43 (n)
Chicken
(Gallus gallus)
Aves HBS1L 30 31
  • 78.9 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HBS1L 31
  • 80 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hbs1l 30
  • 67.72 (n)
Str.10263 30
Zebrafish
(Danio rerio)
Actinopterygii hbs1l 30 31
  • 66.93 (n)
OneToOne
wufc23c07 30
Fruit Fly
(Drosophila melanogaster)
Insecta HBS1 30 31 32
  • 53.28 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002603 30
  • 52 (n)
Worm
(Caenorhabditis elegans)
Secernentea K07A12.4 30 31 32
  • 53.42 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HBS1 30 33
  • 49.8 (n)
SUP35 31
  • 29 (a)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A07799g 30
  • 49.73 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ADR221C 30
  • 46.91 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC25B2.01 30
  • 51.49 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU03981 30
  • 50.23 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10924 31
  • 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for HBS1L: view image

Paralogs for HBS1L Gene

(9) SIMAP similar genes for HBS1L Gene using alignment to 15 proteins:

  • HBS1L_HUMAN
  • B7Z1K2_HUMAN
  • B7Z524_HUMAN
  • D9YZV0_HUMAN
  • E9PHZ9_HUMAN
  • E9PJ90_HUMAN
  • E9PLR4_HUMAN
  • E9PMN1_HUMAN
  • E9PN23_HUMAN
  • E9PS53_HUMAN
  • G5E991_HUMAN
  • H0YD85_HUMAN
  • H0YDX7_HUMAN
  • H0YES5_HUMAN
  • J3QT46_HUMAN

Pseudogenes.org Pseudogenes for HBS1L Gene

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

Variants for HBS1L Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HBS1L Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
720121 Benign: not provided 135,002,823(-) C/G MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
724630 Likely Benign: not provided 135,050,625(-) G/A SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
740134 Likely Benign: not provided 135,050,592(-) C/T SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
777171 Benign: not provided 135,002,834(-) C/T MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
778253 Benign: not provided 134,966,324(-) A/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for HBS1L Gene

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

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

Disorder Aliases PubMed IDs
sickle cell disease
  • scd
beta-thalassemia
  • thalassemia, beta
thalassemia
  • sickle-cell thalassemia with crisis
sickle cell anemia
  • drepanocytosis
tracheal cancer
  • pancoast tumor
- 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
Open Targets Platform
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 23
  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
  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 41
  4. 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 41
  5. Genetics of fetal hemoglobin in Tanzanian and British patients with sickle cell anemia. (PMID: 21068433) Makani J … Thein SL (Blood 2011) 3 41

Products for HBS1L Gene

Sources for HBS1L Gene