{ "uniprot_canonical_ac": "P69891-1", "uniprot_ac": "P69891", "uniprot_id": "HBG1_HUMAN", "mass": { "chemical_mass": 16140.0, "monoisotopic_mass": 16140.0 }, "refseq": { "ac": "NP_000550", "name": "hemoglobin subunit gamma-1", "summary": "The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000550" }, "gene_names": [ { "name": "HBG1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P69891", "id": "P69891" }, { "name": "HBG2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P69891", "id": "P69891" }, { "name": "HBG-T2; HBGA; HBGR; HSGGL1; PRO2979", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000550", "id": "NP_000550" }, { "name": "HBG1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000550", "id": "NP_000550" }, { "name": "HBG2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P69891", "id": "P69891" }, { "name": "PRO2979", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P69891", "id": "P69891" } ], "protein_names": [ { "name": "Hemoglobin subunit gamma-1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P69891" }, { "name": "Gamma-1-globin", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P69891" }, { "name": "Hb F Agamma", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P69891" }, { "name": "Hemoglobin gamma-1 chain", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P69891" }, { "name": "Hemoglobin gamma-A chain", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P69891" }, { "name": "hemoglobin gamma-a chain; hemoglobin, gamma, regulator of; gamma globin; gamma A hemoglobin; A-gamma globin; hb F Agamma; gamma-1-globin; hemoglobin gamma-1 chain; hemoglobin, gamma A; fetal hemoglobin F subunit gamma 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000550", "id": "NP_000550" }, { "name": "hemoglobin subunit gamma-1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000550", "id": "NP_000550" } ], "function": [ { "annotation": "Activation of gamma-globin gene expression by GATA1 and NF-Y in hereditary persistence of fetal hemoglobin.", "evidence": [ { "database": "RefSeq", "id": "NP_000550", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000550" }, { "database": "PubMed", "id": "34341563", "url": "https://glygen.org/publication/PubMed/34341563" } ] }, { "annotation": "Drug Repurposing: Hydroxyurea Therapy Improves the Transfusion-Free Interval in HbE/Beta-Thalassemia-Major Patients with the XmnI Polymorphism.", "evidence": [ { "database": "RefSeq", "id": "NP_000550", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000550" }, { "database": "PubMed", "id": "34406845", "url": "https://glygen.org/publication/PubMed/34406845" } ] }, { "annotation": "Gamma chains make up the fetal hemoglobin F, in combination with alpha chains.", "evidence": [ { "database": "UniProtKB", "id": "P69891", "url": "https://www.uniprot.org/uniprot/P69891#function" }, { "database": "PubMed", "id": "11514664", "url": "https://glygen.org/publication/PubMed/11514664" }, { "database": "PubMed", "id": "22096240", "url": "https://glygen.org/publication/PubMed/22096240" }, { "database": "PubMed", "id": "6198905", "url": "https://glygen.org/publication/PubMed/6198905" } ] }, { "annotation": "Joint efficacy of the three biomarkers SNCA, GYPB and HBG1 for atrial fibrillation and stroke: Analysis via the support vector machine neural network.", "evidence": [ { "database": "RefSeq", "id": "NP_000550", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000550" }, { "database": "PubMed", "id": "35138035", "url": "https://glygen.org/publication/PubMed/35138035" } ] }, { "annotation": "Novel variants in Krueppel like factor 1 that cause persistence of fetal hemoglobin in In(Lu) individuals. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000550", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000550" }, { "database": "PubMed", "id": "34535703", "url": "https://glygen.org/publication/PubMed/34535703" } ] }, { "annotation": "TEA domain transcription factor 4 modulates repression of fetal haemoglobin by direct binding to the gamma-globin gene promoters.", "evidence": [ { "database": "RefSeq", "id": "NP_000550", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000550" }, { "database": "PubMed", "id": "34569056", "url": "https://glygen.org/publication/PubMed/34569056" } ] }, { "annotation": "The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000550", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000550" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "64.83", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000196565", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196565" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "16.41", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000196565", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196565" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000196565", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196565" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "16.94", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000196565", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196565" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "39.13", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000196565", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196565" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "49.72", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000196565", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196565" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "36.68", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000196565", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196565" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "42.65", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000196565", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196565" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "40.65", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000196565", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000196565" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P69891", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P69891" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": 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CANONICAL=P69891-1" }, "locus": { "chromosome": "11", "start_pos": 5254441, "end_pos": 5253280, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000380252.6", "url": "https://www.ensembl.org/id/ENST00000380252.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000369602.2", "url": "https://www.ensembl.org/id/ENSP00000369602.2" } ] } }, { "isoform_ac": "P69891-1", "url": "", "sequence": { "sequence": "MGHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTAVASALSSRYH", "length": 147, "header": "sp|P69891-1|HBG1_HUMAN Isoform 1 of Hemoglobin subunit gamma-1 OS=Homo sapiens OX=9606 GN=HBG1 PE=1 SV=2 CANONICAL=P69891-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P69891", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P69891" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 13, "end_pos": 13, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P69891", "url": "https://www.uniprot.org/uniprot/P69891" } ], "site_lbl": "Thr13" }, { "start_pos": 140, "end_pos": 140, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P69891", "url": "https://www.uniprot.org/uniprot/P69891" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P69891", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P69891" } ], "site_lbl": "Ser140" }, { "start_pos": 45, "end_pos": 45, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P69891", "url": "https://www.uniprot.org/uniprot/P69891" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P69891", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P69891" } ], "site_lbl": "Ser45" }, { "start_pos": 51, "end_pos": 51, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P69891", "url": "https://www.uniprot.org/uniprot/P69891" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P69891", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P69891" } ], "site_lbl": "Ser51" }, { "start_pos": 53, "end_pos": 53, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P69891", "url": "https://www.uniprot.org/uniprot/P69891" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P69891", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P69891" } ], "site_lbl": "Ser53" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Multitasking in signal transduction by a promiscuous human Ins(3,4,5,6)P(4) 1-kinase/Ins(1,3,4)P(3) 5/6-kinase.", "journal": "The Biochemical journal", "date": "2000", "authors": "Yang X, Shears SB", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "11042108", "url": "https://glygen.org/publication/PubMed/11042108" } ] }, { "title": "Rabenosyn-5, a novel Rab5 effector, is complexed with hVPS45 and recruited to endosomes through a FYVE finger domain.", "journal": "The Journal of cell biology", "date": "2000", "authors": "Nielsen E, Christoforidis S, Uttenweiler-Joseph S, Miaczynska M, Dewitte F, Wilm M, Hoflack B, Zerial M", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "11062261", "url": "https://glygen.org/publication/PubMed/11062261" } ] }, { "title": "Methylation of histone H3 lysine 9 creates a binding site for HP1 proteins.", "journal": "Nature", "date": "2001", "authors": "Lachner M, O'Carroll D, Rea S, Mechtler K, Jenuwein T", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "11242053", "url": "https://glygen.org/publication/PubMed/11242053" } ] }, { "title": "Haemoglobin F Victoria Jubilee (alpha 2 A gamma 2 80 Asp-Try).", "journal": "Biochim. Biophys. Acta", "date": "1975", "authors": "Ahern E, Holder W, Ahern V, Serjeant GR, Serjeant BE, Forbes M, Brimhall B, Jones RT", "evidence": [ { "database": "UniProtKB", "id": "P69891", "url": "https://www.uniprot.org/uniprot/P69891" } ], "reference": [ { "type": "PubMed", "id": "1138921", "url": "https://glygen.org/publication/PubMed/1138921" } ] }, { "title": "Oligomerization and ligand binding in a homotetrameric hemoglobin: two high-resolution crystal structures of hemoglobin Bart's (gamma(4)), a marker for alpha-thalassemia.", "journal": "Protein Sci.", "date": "2001", "authors": "Kidd RD, Baker HM, Mathews AJ, Brittain T, Baker EN", "evidence": [ { "database": "UniProtKB", "id": "P69891", "url": "https://www.uniprot.org/uniprot/P69891" } ], "reference": [ { "type": "PubMed", "id": "11514664", "url": "https://glygen.org/publication/PubMed/11514664" } ] }, { "title": "RAD51C interacts with RAD51B and is central to a larger protein complex in vivo exclusive of RAD51.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Miller KA, Yoshikawa DM, McConnell IR, Clark R, Schild D, Albala JS", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "11744692", "url": "https://glygen.org/publication/PubMed/11744692" } ] }, { "title": "Mediator function of the human Rad51B-Rad51C complex in Rad51/RPA-catalyzed DNA strand exchange.", "journal": "Genes & development", "date": "2001", "authors": "Sigurdsson S, Van Komen S, Bussen W, Schild D, Albala JS, Sung P", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "11751636", "url": "https://glygen.org/publication/PubMed/11751636" } ] }, { "title": "The human beta-globin locus control region.", "journal": "European journal of biochemistry", "date": "2002", "authors": "Levings PP, Bungert J", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "11895428", "url": "https://glygen.org/publication/PubMed/11895428" } ] }, { "title": "Membrane topology and mitochondrial targeting of mitofusins, ubiquitous mammalian homologs of the transmembrane GTPase Fzo.", "journal": "Journal of cell science", "date": "2002", "authors": "Rojo M, Legros F, Chateau D, Lombes A", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "11950885", "url": "https://glygen.org/publication/PubMed/11950885" } ] }, { "title": "A core-BRAF35 complex containing histone deacetylase mediates repression of neuronal-specific genes.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2002", "authors": "Hakimi MA, Bochar DA, Chenoweth J, Lane WS, Mandel G, Shiekhattar R", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "12032298", "url": "https://glygen.org/publication/PubMed/12032298" } ] }, { "title": "Unconventional Rac-GEF activity is mediated through the Dock180-ELMO complex.", "journal": "Nature cell biology", "date": "2002", "authors": "Brugnera E, Haney L, Grimsley C, Lu M, Walk SF, Tosello-Trampont AC, Macara IG, Madhani H, Fink GR, Ravichandran KS", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "12134158", "url": "https://glygen.org/publication/PubMed/12134158" } ] }, { "title": "Complex formation by the human Rad51B and Rad51C DNA repair proteins and their activities in vitro.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Lio YC, Mazin AV, Kowalczykowski SC, Chen DJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "12427746", "url": "https://glygen.org/publication/PubMed/12427746" } ] }, { "title": "Rabenosyn-5 and EHD1 interact and sequentially regulate protein recycling to the plasma membrane.", "journal": "Molecular biology of the cell", "date": "2004", "authors": "Naslavsky N, Boehm M, Backlund PS Jr, Caplan S", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "15020713", "url": "https://glygen.org/publication/PubMed/15020713" } ] }, { "title": "The novel Cdc42 guanine nucleotide exchange factor, zizimin1, dimerizes via the Cdc42-binding CZH2 domain.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Meller N, Irani-Tehrani M, Ratnikov BI, Paschal BM, Schwartz MA", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "15247287", "url": "https://glygen.org/publication/PubMed/15247287" } ] }, { "title": "Zizimin2: a novel, DOCK180-related Cdc42 guanine nucleotide exchange factor expressed predominantly in lymphocytes.", "journal": "FEBS letters", "date": "2005", "authors": "Nishikimi A, Meller N, Uekawa N, Isobe K, Schwartz MA, Maruyama M", "evidence": [ { "database": "Reactome", "id": "R-HSA-983231", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-983231" } ], "reference": [ { "type": "PubMed", "id": "15710388", "url": "https://glygen.org/publication/PubMed/15710388" } ] }, { "title": "Mammalian CARMIL inhibits actin filament capping by capping protein.", "journal": "Developmental cell", "date": "2005", "authors": "Yang C, Pring M, Wear MA, Huang M, Cooper 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Hematol.", "date": "1984", "authors": "Nakatsuji T, Ohba Y, Huisman TH", "evidence": [ { "database": "UniProtKB", "id": "P69891", "url": "https://www.uniprot.org/uniprot/P69891" } ], "reference": [ { "type": "PubMed", "id": "6198905", "url": "https://glygen.org/publication/PubMed/6198905" } ] }, { "title": "Hb F-Calluna or alpha 2 gamma 2(12 Thr replaced by Arg; 75Ile; 136Ala) in a Caucasian baby.", "journal": "Hemoglobin", "date": "1983", "authors": "Nakatsuji T, Lam H, Huisman TH", "evidence": [ { "database": "UniProtKB", "id": "P69891", "url": "https://www.uniprot.org/uniprot/P69891" } ], "reference": [ { "type": "PubMed", "id": "6199326", "url": "https://glygen.org/publication/PubMed/6199326" } ] }, { "title": "A history of the human fetal globin gene duplication.", "journal": "Cell", "date": "1981", "authors": "Slightom J.L., Shen S., Smithies O.", "evidence": [ { "database": "UniProtKB", "id": "P69891", "url": "https://www.uniprot.org/uniprot/P69891" } ], "reference": [ { "type": "PubMed", "id": "7332928", "url": "https://glygen.org/publication/PubMed/7332928" } ] }, { "title": "Human fetal G gamma- and A gamma-globin genes: complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes.", "journal": "Cell", "date": "1980", "authors": "Slightom J.L., Smithies O., Blechl A.E.", "evidence": [ { "database": "UniProtKB", "id": "P69891", "url": "https://www.uniprot.org/uniprot/P69891" } ], "reference": [ { "type": "PubMed", "id": "7438203", "url": "https://glygen.org/publication/PubMed/7438203" } ] }, { "title": "The M gamma chain of human fetal hemoglobin is an A gamma chain with an in vitro modification of gamma 141 leucine to hydroxyleucine.", "journal": "J. Chromatogr. 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