{ "uniprot_canonical_ac": "P02104-1", "uniprot_ac": "P02104", "uniprot_id": "HBE_MOUSE", "mass": { "chemical_mass": 16137.0, "monoisotopic_mass": 16137.0 }, "refseq": { "ac": "NP_032247", "name": "hemoglobin subunit epsilon-Y2", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_032247" }, "gene_names": [ { "name": "Hbb-y", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P02104", "id": "P02104" }, { "name": "Ey; Hby", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_032247", "id": "NP_032247" }, { "name": "Glnb1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P02104", "id": "P02104" }, { "name": "Hbb-y", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_032247", "id": "NP_032247" } ], "protein_names": [ { "name": "Hemoglobin subunit epsilon-Y2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P02104" }, { "name": "Epsilon-Y2-globin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02104" }, { "name": "Hemoglobin epsilon-Y2 chain", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02104" }, { "name": "epsilon-Y2-globin; hemoglobin epsilon-Y2 chain; epsilon Y globin", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_032247", "id": "NP_032247" }, { "name": "hemoglobin subunit epsilon-Y2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_032247", "id": "NP_032247" } ], "function": [ { "annotation": "Hemoglobin epsilon chain is a beta-type chain found in early embryos.", "evidence": [ { "database": "UniProtKB", "id": "P02104", "url": "https://www.uniprot.org/uniprot/P02104#function" } ] } ], "disease": [ { "disease_id": "DOID:0080773", "recommended_name": { "id": "DOID:0080773", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080773", "name": "delta beta-thalassemia", "description": "A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild." }, "synonyms": [ { "id": "MONDO:0016489", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016489", "name": "delta-beta-thalassemia", "description": "Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis." }, { "id": "MONDO:0016672", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016672", "name": "hereditary persistence of fetal hemoglobin-sickle cell disease syndrome", "description": "" }, { "id": "MONDO:0016672", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016672", "name": "HPFH-sickle cell disease syndrome", "description": "" }, { "id": "MONDO:0018749", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018749", "name": "hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome", "description": "Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells." }, { "id": "MONDO:0018749", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0018749", "name": "HPFH-beta-thalassemia syndrome", "description": "" } ], "evidence": [ { "id": "0080773", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080773" } ] }, { "disease_id": "DOID:10923", "recommended_name": { "id": "DOID:10923", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10923", "name": "sickle cell anemia", "description": "A blood protein disease that is characterized by low number of red blood cells, repeated infections, and periodic episodes of pain, resulting from atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape." }, "synonyms": [ { "id": "DOID:10923", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10923", "name": "Hb SC disease", "description": "" }, { "id": "DOID:10923", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10923", "name": "Hb-S/Hb-C disease", "description": "" }, { "id": "DOID:10923", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10923", "name": "Hb-SS disease without crisis", "description": "" }, { "id": "DOID:10923", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10923", "name": "Hemoglobin S disease without crisis", "description": "" }, { "id": "DOID:10923", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10923", "name": "Sickle-cell/Hb-C disease without crisis", "description": "" }, { "id": "DOID:10923", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10923", "name": "drepanocytosis", "description": "" }, { "id": "DOID:10923", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10923", "name": "haemoglobin SC disease", "description": "" }, { "id": "DOID:10923", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10923", "name": "hemoglobin SC disease", "description": "" }, { "id": "DOID:10923", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10923", "name": "sickle cell anaemia", "description": "" }, { "id": "MONDO:0011382", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011382", "name": "sickle cell anemia", "description": "Sickle cell anemias are chronic hemolytic diseases that may induce three types of acute accidents: severe anemia, severe bacterial infections, and ischemic vasoocclusive accidents (VOA) caused by sickle-shaped red blood cells obstructing small blood vessels and capillaries. Many diverse complications can occur." }, { "id": "MONDO:0011382", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011382", "name": "Haemoglobin S disease without crisis", "description": "" }, { "id": "MONDO:0011382", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011382", "name": "Hb SC disease", "description": "" }, { "id": "MONDO:0011382", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011382", "name": "Hb-S/Hb-C disease", "description": "" }, { "id": "MONDO:0011382", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011382", "name": "Hb-SS disease without crisis", "description": "" }, { "id": "MONDO:0011382", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011382", "name": "Hemoglobin S disease without crisis", "description": "" }, { "id": "MONDO:0011382", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011382", "name": "drepanocytosis", "description": "" }, { "id": "MONDO:0011382", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011382", "name": "haemoglobin SC disease", "description": "" }, { "id": "MONDO:0011382", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011382", "name": "hemoglobin SC disease", "description": "" }, { "id": "MONDO:0011382", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011382", "name": "sickle cell anemia", "description": "" }, { "id": "MONDO:0011382", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011382", "name": "sickle cell disease", "description": "" }, { "id": "MONDO:0011382", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011382", "name": "sickle-cell/Hb-C disease without crisis", "description": "" }, { "id": "MONDO:0011382", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011382", "name": "sickling disorder due to Haemoglobin S", "description": "" }, { "id": "MONDO:0011382", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011382", "name": "sickling disorder due to Hemoglobin S", "description": "" }, { "id": "MONDO:0011382", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011382", "name": "Haemoglobin S disease", "description": "" }, { "id": "MONDO:0011382", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011382", "name": "HbS disease", "description": "" }, { "id": "MONDO:0011382", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011382", "name": "Hemoglobin S disease", "description": "" }, { "id": "MIM:603903", "resource": "MIM", "url": "https://www.omim.org/entry/603903", "name": "Sickle cell disease", "description": "Sickle cell disease" } ], "evidence": [ { "id": "10923", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10923" } ] } ], 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"categories": [ "Genome Annotation" ] }, { "id": "IPR000971", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000971", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002337", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002337", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR009050", "url": "https://www.ebi.ac.uk/interpro/entry/IPR009050", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR012292", "url": "https://www.ebi.ac.uk/interpro/entry/IPR012292", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "mmu:15135", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:15135", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "96027", "url": "http://www.informatics.jax.org/marker/MGI:96027", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "INGLWSK", "url": "https://omabrowser.org/oma/group/INGLWSK/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5356926at2759", "url": "http://www.orthodb.org/?query=5356926at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11442", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11442", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11442:SF84", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11442:SF84", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00042", "url": "http://pfam.xfam.org/family/PF00042", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_P02104", "url": "http://purl.obolibrary.org/obo/PR_P02104", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_032247", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_032247", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P02104", "url": "https://www.uniprot.org/uniprot/P02104", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P02104-1", "url": "https://www.uniprot.org/uniprot/P02104-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9CR49", "url": "https://www.uniprot.org/uniprot/Q9CR49", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9CR49-1", "url": "https://www.uniprot.org/uniprot/Q9CR49-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MVNFTAEEKTLINGLWSKVNVEEVGGEALGRLLVVYPWTQRFFDSFGNLSSASAIMGNPRVKAHGKKVLTAFGESIKNLDNLKSALAKLSELHCDKLHVDPENFKLLGNVLVIVLASHFGNEFTAEMQAAWQKLVAGVATALSHKYH", "length": 147, "header": "sp|P02104-1|HBE_MOUSE Isoform 1 of Hemoglobin subunit epsilon-Y2 OS=Mus musculus OX=10090 GN=Hbb-y PE=1 SV=2 CANONICAL=P02104-1" }, "isoforms": [ { "isoform_ac": "P02104-1", "url": "", "sequence": { "sequence": "MVNFTAEEKTLINGLWSKVNVEEVGGEALGRLLVVYPWTQRFFDSFGNLSSASAIMGNPRVKAHGKKVLTAFGESIKNLDNLKSALAKLSELHCDKLHVDPENFKLLGNVLVIVLASHFGNEFTAEMQAAWQKLVAGVATALSHKYH", "length": 147, "header": "sp|P02104-1|HBE_MOUSE Isoform 1 of Hemoglobin subunit epsilon-Y2 OS=Mus musculus OX=10090 GN=Hbb-y PE=1 SV=2 CANONICAL=P02104-1" }, "locus": {} }, { "isoform_ac": "Q9CR49-1", "url": "", "sequence": { "sequence": "MVNFTAEEKTLINGLWSKVNVEEVGGEALGRLLVVYPWTHRFFDSFGNLSSASAIMGNPRVKAHGKKVLTAFGESIKNLDNLKSALAKLSELHCDKLHVDPENFKLLGNVLVIVLASHFGNEFTAEMQAAWQKLVAGVATALSHKYH", "length": 147, "header": "tr|Q9CR49-1|Q9CR49_MOUSE Computationally mapped isoform of Globin b1 OS=Mus musculus OX=10090 GN=Hbb-y PE=1 SV=1 CANONICAL=P02104-1" }, "locus": { "chromosome": "7", "start_pos": 103502359, "end_pos": 103501084, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000033229.5", "url": "https://www.ensembl.org/id/ENSMUST00000033229.5" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000033229.4", "url": "https://www.ensembl.org/id/ENSMUSP00000033229.4" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 51, "end_pos": 51, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P02104", "url": "https://www.uniprot.org/uniprot/P02104" } ], "site_lbl": "Ser51" } ], "glycation": [], "keywords": [], "publication": [ { "title": "A molecular analysis of mouse development from 8 to 10 days post coitum detects changes only in embryonic globin expression.", "journal": "Development", "date": "1987", "authors": "Wilkinson D.G., McMahon A.P., Bailes J.A., Champion J.E.", "evidence": [ { "database": "UniProtKB", "id": "P02104", "url": "https://www.uniprot.org/uniprot/P02104" } ], "reference": [ { "type": "PubMed", "id": "2444404", "url": "https://glygen.org/publication/PubMed/2444404" } ] }, { "title": "Nucleotide sequence of the BALB/c mouse beta-globin complex.", "journal": "J. Mol. Biol.", "date": "1989", "authors": "Shehee WR, Loeb DD, Adey NB, Burton FH, Casavant NC, Cole P, Davies CJ, McGraw RA, Schichman SA, Severynse DM, et al.", "evidence": [ { "database": "UniProtKB", "id": "P02104", "url": "https://www.uniprot.org/uniprot/P02104" } ], "reference": [ { "type": "PubMed", "id": "2926808", "url": "https://glygen.org/publication/PubMed/2926808" } ] }, { "title": "The nucleotide sequence of the mouse embryonic beta-like y-globin messenger RNA as determined from cloned cDNA.", "journal": "Gene", "date": "1981", "authors": "Gambari R., Farace M.G., Fantoni A., Vanin E.F.", "evidence": [ { "database": "UniProtKB", "id": "P02104", "url": "https://www.uniprot.org/uniprot/P02104" } ], "reference": [ { "type": "PubMed", "id": "6177582", "url": "https://glygen.org/publication/PubMed/6177582" } ] }, { "title": "DNA sequence organization of the beta-globin complex in the BALB/c mouse.", "journal": "Cell", "date": "1980", "authors": "Weaver S., Phillips S.J., Edgell M.H., Haigwood N.L., Hutchison C.A. III, Jahn C.L., Voliva C.F.", "evidence": [ { "database": "UniProtKB", "id": "P02104", "url": "https://www.uniprot.org/uniprot/P02104" } ], "reference": [ { "type": "PubMed", "id": "6250710", "url": "https://glygen.org/publication/PubMed/6250710" } ] }, { "title": "The sequence of a mouse embryonic beta-globin gene. Evolution of the gene and its signal region.", "journal": "J. Biol. Chem.", "date": "1982", "authors": "Leder P., Hansen J.N., Konkel D.A.", "evidence": [ { "database": "UniProtKB", "id": "P02104", "url": "https://www.uniprot.org/uniprot/P02104" } ], "reference": [ { "type": "PubMed", "id": "6274852", "url": "https://glygen.org/publication/PubMed/6274852" } ] }, { "title": "Mouse haemoglobin beta chains. Sequence data on embryonic y chain and genetic linkage of the Y-chain locus to the adult beta-chain locus Hbb.", "journal": "Biochem. J.", "date": "1976", "authors": "Gilman J.G.", "evidence": [ { "database": "UniProtKB", "id": "P02104", "url": "https://www.uniprot.org/uniprot/P02104" } ], "reference": [ { "type": "PubMed", "id": "938477", "url": "https://glygen.org/publication/PubMed/938477" } ] } ], "pathway": [ { "id": "mmu:15135", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:15135", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "O88752-1", "protein_name": "Hemoglobin subunit epsilon 1", "gene_name": "Hbe1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MVNFTAEEKSLINGLWSKVNVEEVGGEALGRLLVVYPWTQRFFDSFGNLSSASAIMGNPRVKAHGKKVLTAFGETIKNLDNLKSALAKLSELHCDKLHVDPENFKLLGNVLVIVLASHFGNEFTAEVQAAWQKLVAGVATALSHKYH", "length": 147 }, "evidence": [ { "id": "45224693", "url": "http://www.informatics.jax.org/homology/45224693", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P02100-1", "protein_name": "Hemoglobin subunit epsilon", "gene_name": "HBE1", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MVHFTAEEKAAVTSLWSKMNVEEAGGEALGRLLVVYPWTQRFFDSFGNLSSPSAILGNPKVKAHGKKVLTSFGDAIKNMDNLKPAFAKLSELHCDKLHVDPENFKLLGNVMVIILATHFGKEFTPEVQAAWQKLVSAVAIALAHKYH", "length": 147 }, "evidence": [ { "id": "45224693", "url": "http://www.informatics.jax.org/homology/45224693", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "P69892-1", "protein_name": "Hemoglobin subunit gamma-2", "gene_name": "HBG2", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH", "length": 147 }, "evidence": [ { "id": "45224693", "url": "http://www.informatics.jax.org/homology/45224693", "database": "MGI" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 7, "go_terms": [ { "name": "organic acid binding", "id": "GO:0043177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043177", "evidence": [ { "database": "UniProtKB", "id": "P02104", "url": "https://www.uniprot.org/uniprot/P02104" } ], "pmid": "" }, { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P02104", "url": "https://www.uniprot.org/uniprot/P02104" } ], "pmid": "" }, { "name": "protein-containing complex binding", "id": "GO:0044877", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044877", "evidence": [ { "database": "UniProtKB", "id": "P02104", "url": "https://www.uniprot.org/uniprot/P02104" } ], "pmid": "" }, { "name": "heme binding", "id": "GO:0020037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0020037", "evidence": [ { "database": "UniProtKB", "id": "P02104", "url": "https://www.uniprot.org/uniprot/P02104" } ], "pmid": "" }, { "name": "hemoglobin alpha binding", "id": "GO:0031721", 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