HBE1 (hemoglobin subunit epsilon 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3046
Gene name Hemoglobin subunit epsilon 1
Gene symbol HBE1
Synonyms (NCBI Gene)
HBE
Chromosome 11
Chromosome location 11p15.4
Summary The epsilon globin gene (HBE) is normally expressed in the embryonic yolk sac: two epsilon chains together with two zeta chains (an alpha-like globin) constitute the embryonic hemoglobin Hb Gower I; two epsilon chains together with two alpha chains form t
miRNA miRNA information provided by mirtarbase database.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT017542 hsa-miR-335-5p Microarray 18185580
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
GATA1 Unknown 8423810
KLF3 Unknown 12621553
NFE2 Unknown 8423810
SATB1 Activation 15618465
SIRT1 Repression 22328728
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0005344 Function Oxygen carrier activity IBA
GO:0005344 Function Oxygen carrier activity IEA
GO:0005344 Function Oxygen carrier activity TAS 7555018
GO:0005515 Function Protein binding IPI 11159543, 32296183, 33961781
GO:0005829 Component Cytosol TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
142100 4830 ENSG00000213931
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P02100
Protein name Hemoglobin subunit epsilon (Epsilon-globin) (Hemoglobin epsilon chain)
Protein function The epsilon chain is a beta-type chain of early mammalian embryonic hemoglobin.
PDB 1A9W
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00042 Globin 8 → 112 Globin Domain
Tissue specificity TISSUE SPECIFICITY: Red blood cells.
Sequence
Sequence length 147
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Factors involved in megakaryocyte development and platelet production
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
HBE1-related disorder Likely benign; Benign rs139834545, rs111330211, rs145809569, rs79612490 RCV003916810
RCV003914769
RCV003934103
RCV003976658
Show/Hide Text Mining Associations (53)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Habitual Associate 18654872
Abortion Spontaneous Associate 18654872
Acidosis Renal Tubular Associate 18266205
alpha Thalassemia Associate 17284746, 19843387, 32048804, 32633642
Anemia Associate 26292035, 28154185, 28531196, 7680924
Anemia Hemolytic Stimulate 22028795
Anemia Hemolytic Associate 28531196, 31992253, 8839873
Anemia Iron Deficiency Associate 29737797, 32633642
Anemia Sickle Cell Associate 14587045, 18266205, 20932329, 23409025, 28154185, 28768465, 28800727, 34069401
Bacterial Infections Associate 31884679