Gene Gene information from NCBI Gene database.
Entrez ID 10767
Gene name HBS1 like translational GTPase
Gene symbol HBS1L
Synonyms (NCBI Gene)
EF-1aERFSHBS1HSPC276eRF3c
Chromosome 6
Chromosome location 6q23.3
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 quantitat
miRNA miRNA information provided by mirtarbase database.
358
miRTarBase ID miRNA Experiments Reference
MIRT028343 hsa-miR-32-5p Sequencing 20371350
MIRT046986 hsa-miR-218-5p CLASH 23622248
MIRT046078 hsa-miR-125b-5p CLASH 23622248
MIRT038298 hsa-miR-130b-5p CLASH 23622248
MIRT693268 hsa-miR-5003-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003746 Function Translation elongation factor activity IEA
GO:0003924 Function GTPase activity IBA
GO:0003924 Function GTPase activity IEA
GO:0003924 Function GTPase activity ISS 20947765
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612450 4834 ENSG00000112339
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y450
Protein name HBS1-like protein (EC 3.6.5.-) (ERFS)
Protein function GTPase component of the Pelota-HBS1L complex, a complex that recognizes stalled ribosomes and triggers the No-Go Decay (NGD) pathway (PubMed:21448132, PubMed:23667253, PubMed:27863242). The Pelota-HBS1L complex recognizes ribosomes stalled at th
PDB 5LZW , 5LZX , 5LZY , 5LZZ , 9G8M , 9G8N , 9G8O , 9G8P , 9G8R
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08938 HBS1_N 41 129 HBS1 N-terminus Domain
PF00009 GTP_EFTU 258 487 Elongation factor Tu GTP binding domain Domain
PF03144 GTP_EFTU_D2 502 569 Elongation factor Tu domain 2 Domain
PF03143 GTP_EFTU_D3 574 683 Elongation factor Tu C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in heart, brain, placenta, liver, muscle, kidney and pancreas. {ECO:0000269|PubMed:9872408}.
Sequence
Sequence length 684
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  mRNA surveillance pathway
Legionellosis
  mRNA decay by 3' to 5' exoribonuclease
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BENIGN PROSTATIC HYPERPLASIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
alpha-Thalassemia alpha Thalassemia BEFREE 19696200, 23606168, 24581976
★☆☆☆☆
Found in Text Mining only
alpha^+^ Thalassemia alpha Thalassemia BEFREE 19696200, 23606168, 24581976
★☆☆☆☆
Found in Text Mining only
Anemia Hemolytic Hemolytic anemia Pubtator 29879141 Associate
★☆☆☆☆
Found in Text Mining only
Anemia Sickle Cell Sickle cell anemia Pubtator 18667698, 21068433, 24667352, 25084696, 25928412, 28280727, 28332727, 29879141, 38339995 Associate
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia BEFREE 19148297, 20472475, 21057501, 25084696, 25928412, 28332727, 29879141, 30216683
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 29441592
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
beta Thalassemia beta Thalassemia BEFREE 18697826, 20472475
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
beta Thalassemia Beta thalassemia Pubtator 19696200, 21068433, 21385855, 22271886, 26771086, 27009595, 28280727 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Beta thalassemia intermedia beta Thalassemia BEFREE 20472475
★☆☆☆☆
Found in Text Mining only
beta^+^ Thalassemia beta Thalassemia BEFREE 18697826, 20472475
★☆☆☆☆
Found in Text Mining only