{ "uniprot_canonical_ac": "O00267-1", "uniprot_ac": "O00267", "uniprot_id": "SPT5H_HUMAN", "mass": { "chemical_mass": 121000.0, "monoisotopic_mass": 121000.0 }, "refseq": { "ac": "NP_001104490", "name": "transcription elongation factor SPT5 isoform a", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001104490" }, "gene_names": [ { "name": "SUPT5H", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00267", "id": "O00267" }, { "name": "SPT5; SPT5H; Tat-CT1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001104490", "id": "NP_001104490" }, { "name": "SPT5H", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00267", "id": "O00267" }, { "name": "SPT5", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00267", "id": "O00267" }, { "name": "SUPT5H", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001104490", "id": "NP_001104490" } ], "protein_names": [ { "name": "Transcription elongation factor SPT5", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00267" }, { "name": "DRB sensitivity-inducing factor 160 kDa subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00267" }, { "name": "DRB sensitivity-inducing factor large subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00267" }, { "name": "DSIF large subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00267" }, { "name": "DSIF p160", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00267" }, { "name": "Tat-CT1 protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00267" }, { "name": "Tat-cotransactivator 1 protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00267" }, { "name": "hSPT5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00267" }, { "name": "transcription elongation factor SPT5 isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001104490", "id": "NP_001104490" }, { "name": "transcription elongation factor SPT5; DRB sensitivity-inducing factor large subunit; Tat-cotransactivator 1 protein; DSIF large subunit; DSIF p160; hSPT5; DRB sensitivity-inducing factor 160 kDa subunit; suppressor of Ty 5 homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001104490", "id": "NP_001104490" } ], "function": [ { "annotation": "A stepwise haematological screening and whole-exome sequencing reveal multiple mutations from SUPT5H causing an elevation of Hb A2 from a cohort of 47336 individuals. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001104490", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001104490" }, { "database": "PubMed", "id": "36054783", "url": "https://glygen.org/publication/PubMed/36054783" } ] }, { "annotation": "CRISPRi-mediated depletion of Spt4 and Spt5 reveals a role for DSIF in the control of HIV latency.", "evidence": [ { "database": "RefSeq", "id": "NP_001104490", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001104490" }, { "database": "PubMed", "id": "33333262", "url": "https://glygen.org/publication/PubMed/33333262" } ] }, { "annotation": "Component of the DRB sensitivity-inducing factor complex (DSIF complex), which regulates mRNA processing and transcription elongation by RNA polymerase II. DSIF positively regulates mRNA capping by stimulating the mRNA guanylyltransferase activity of RNGTT/CAP1A. DSIF also acts cooperatively with the negative elongation factor complex (NELF complex) to enhance transcriptional pausing at sites proximal to the promoter. Transcriptional pausing may facilitate the assembly of an elongation competent RNA polymerase II complex. DSIF and NELF promote pausing by inhibition of the transcription elongation factor TFIIS/S-II. TFIIS/S-II binds to RNA polymerase II at transcription pause sites and stimulates the weak intrinsic nuclease activity of the enzyme. Cleavage of blocked transcripts by RNA polymerase II promotes the resumption of transcription from the new 3' terminus and may allow repeated attempts at transcription through natural pause sites. DSIF can also positively regulate transcriptional elongation and is required for the efficient activation of transcriptional elongation by the HIV-1 nuclear transcriptional activator, Tat. DSIF acts to suppress transcriptional pausing in transcripts derived from the HIV-1 LTR and blocks premature release of HIV-1 transcripts at terminator sequences.", "evidence": [ { "database": "UniProtKB", "id": "O00267", "url": "https://www.uniprot.org/uniprot/O00267#function" }, { "database": "PubMed", "id": "15380072", "url": "https://glygen.org/publication/PubMed/15380072" }, { "database": "PubMed", "id": "10421630", "url": "https://glygen.org/publication/PubMed/10421630" }, { "database": "PubMed", "id": "9450929", "url": "https://glygen.org/publication/PubMed/9450929" }, { "database": "PubMed", "id": "15136722", "url": "https://glygen.org/publication/PubMed/15136722" }, { "database": "PubMed", "id": "10075709", "url": "https://glygen.org/publication/PubMed/10075709" }, { "database": "PubMed", "id": "9514752", "url": "https://glygen.org/publication/PubMed/9514752" }, { "database": "PubMed", "id": "16214896", "url": "https://glygen.org/publication/PubMed/16214896" }, { "database": "PubMed", "id": "12653964", "url": "https://glygen.org/publication/PubMed/12653964" }, { "database": "PubMed", "id": "10393184", "url": "https://glygen.org/publication/PubMed/10393184" }, { "database": "PubMed", "id": "9857195", "url": "https://glygen.org/publication/PubMed/9857195" }, { "database": "PubMed", "id": "11809800", "url": "https://glygen.org/publication/PubMed/11809800" }, { "database": "PubMed", "id": "10757782", "url": "https://glygen.org/publication/PubMed/10757782" }, { "database": "PubMed", "id": "12718890", "url": "https://glygen.org/publication/PubMed/12718890" }, { "database": "PubMed", "id": "11112772", "url": "https://glygen.org/publication/PubMed/11112772" }, { "database": "PubMed", "id": "10454543", "url": "https://glygen.org/publication/PubMed/10454543" }, { "database": "PubMed", "id": "10199401", "url": "https://glygen.org/publication/PubMed/10199401" }, { "database": "PubMed", "id": "10912001", "url": "https://glygen.org/publication/PubMed/10912001" }, { "database": "PubMed", "id": "11553615", "url": "https://glygen.org/publication/PubMed/11553615" }, { "database": "PubMed", "id": "14701750", "url": "https://glygen.org/publication/PubMed/14701750" } ] }, { "annotation": "SPT5 stabilization of promoter-proximal RNA polymerase II.", "evidence": [ { "database": "RefSeq", "id": "NP_001104490", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001104490" }, { "database": "PubMed", "id": "34480849", "url": "https://glygen.org/publication/PubMed/34480849" } ] }, { "annotation": "SPT5 stabilizes RNA polymerase II, orchestrates transcription cycles, and maintains the enhancer landscape.", "evidence": [ { "database": "RefSeq", "id": "NP_001104490", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001104490" }, { "database": "PubMed", "id": "34534457", "url": "https://glygen.org/publication/PubMed/34534457" } ] }, { "annotation": "ZWC complex-mediated SPT5 phosphorylation suppresses divergent antisense RNA transcription at active gene promoters.", "evidence": [ { "database": "RefSeq", "id": "NP_001104490", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001104490" }, { "database": "PubMed", "id": "35325203", "url": "https://glygen.org/publication/PubMed/35325203" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O00267", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00267" }, { "id": "rs80027112", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs80027112" }, { "id": "rs80027112", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs80027112" }, { "id": "rs80027112", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs80027112" }, { "id": "rs80027112", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs80027112#frequency_tab" }, { "id": "rs80027112", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs80027112" } ], "glycoeffect": 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"http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": 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"https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": 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"https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": 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"description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", 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"" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": 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"id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": 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"https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00267" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"MSDSEDSNFSEEEDSERSSDGEEAEVDEERRSAAGSEKEEEPEDEEEEEEEEEYDEEEEEEDDDRPPKKPRHGGFILDEADVDDEYEDEDQWEDGAEDILEKEEIEASNIDNVVLDEDRSGARRLQNLWRDQREEELGEYYMKKYAKSSVGETVYGGSDELSDDITQQQLLPGVKDPNLWTVKCKIGEERATAISLMRKFIAYQFTDTPLQIKSVVAPEHVKGYIYVEAYKQTHVKQAIEGVGNLRLGYWNQQMVPIKEMTDVLKVVKEVANLKPKSWVRLKRGIYKDDIAQVDYVEPSQNTISLKMIPRIDYDRIKARMSLKDWFAKRKKFKRPPQRLFDAEKIRSLGGDVASDGDFLIFEGNRYSRKGFLFKSFAMSAVITEGVKPTLSELEKFEDQPEGIDLEVVTESTGKEREHNFQPGDNVEVCEGELINLQGKILSVDGNKITIMPKHEDLKDMLEFPAQELRKYFKMGDHVKVIAGRFEGDTGLIVRVEENFVILFSDLTMHELKVLPRDLQLCSETASGVDVGGQHEWGELVQLDPQTVGVIVRLERETFQVLNMYGKVVTVRHQAVTRKKDNRFAVALDSEQNNIHVKDIVKVIDGPHSGREGEIRHLFRSFAFLHCKKLVENGGMFVCKTRHLVLAGGSKPRDVTNFTVGGFAPMSPRISSPMHPSAGGQRGGFGSPGGGSGGMSRGRGRRDNELIGQTVRISQGPYKGYIGVVKDATESTARVELHSTCQTISVDRQRLTTVGSRRPGGMTSTYGRTPMYGSQTPMYGSGSRTPMYGSQTPLQDGSRTPHYGSQTPLHDGSRTPAQSGAWDPNNPNTPSRAEEEYEYAFDDEPTPSPQAYGGTPNPQTPGYPDPSSPQVNPQYNPQTPGTPAMYNTDQFSPYAAPSPQGSYQPSPSPQSYHQVAPSPAGYQNTHSPASYHPTPSPMAYQASPSPSPVGYSPMTPGAPSPGGYNPHTPGSGIEQNSSDWVTTDIQVKVRDTYLDTQVVGQTGVIRSVTGGMCSVYLKDSEKVVSISSEHLEPITPTKNNKVKVILGEDREATGVLLSIDGEDGIVRMDLDEQLKILNLRFLGKLLEA", "length": 1087, "header": "sp|O00267-1|SPT5H_HUMAN Isoform 1 of Transcription elongation factor SPT5 OS=Homo sapiens OX=9606 GN=SUPT5H PE=1 SV=1 CANONICAL=O00267-1" }, "isoforms": [ { "isoform_ac": "M0QYL9-1", "url": "", "sequence": { "sequence": "DQWEDGAEDILEKEEIEASNIDNVVLDEDRSGARRLQNLWRDQREEELGEYYMKKYAKSSVGETVYGGSDELSDDITQQQLLPGVKDPNLWTVKCKIGEERATAISLMRKFIAYQFTDTVDYVEPSQNTISLKMIPRIDYDRIKARMSLKDWFAKRKKFKRPPQ", "length": 164, "header": "tr|M0QYL9-1|SPT5H_HUMAN Computationally mapped isoform of Transcription elongation factor SPT5 OS=Homo sapiens OX=9606 GN=SUPT5H PE=1 SV=1 CANONICAL=O00267-1" }, "locus": { "chromosome": "19", "start_pos": 39466719, "end_pos": 39457701, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000593727.1", "url": "https://www.ensembl.org/id/ENST00000593727.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000469915.1", "url": "https://www.ensembl.org/id/ENSP00000469915.1" } ] } }, { "isoform_ac": "M0R105-1", "url": "", "sequence": { "sequence": "MSDSEDSNFSEEEDSERSSDGEEAEVDEERRSAAGSEKEEEPEDEEEEEEEEEY", "length": 54, "header": "tr|M0R105-1|SPT5H_HUMAN Computationally mapped isoform of Transcription elongation factor SPT5 OS=Homo sapiens OX=9606 GN=SUPT5H PE=1 SV=1 CANONICAL=O00267-1" }, "locus": { "chromosome": "19", "start_pos": 39453442, "end_pos": 39445891, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000594990.5", "url": "https://www.ensembl.org/id/ENST00000594990.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000471561.1", "url": "https://www.ensembl.org/id/ENSP00000471561.1" } ] } }, { "isoform_ac": "M0R2M5-1", "url": "", "sequence": { "sequence": "MSDSEDSNFSEEEDSERSSDGEEAEVDEERRSAAGSEKEEEPEDEEEEEEEEEYDEEEEEEDDDRPPKKPRHGGFILDEADVDDEYEDEDQWEDGAEDILEK", "length": 102, "header": "tr|M0R2M5-1|SPT5H_HUMAN Computationally mapped isoform of Transcription elongation factor SPT5 OS=Homo sapiens OX=9606 GN=SUPT5H PE=1 SV=1 CANONICAL=O00267-1" }, "locus": { "chromosome": "19", "start_pos": 39457739, "end_pos": 39445891, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000594729.5", "url": "https://www.ensembl.org/id/ENST00000594729.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000470595.1", "url": "https://www.ensembl.org/id/ENSP00000470595.1" } ] } }, { "isoform_ac": "O00267-1", "url": "", "sequence": { "sequence": "MSDSEDSNFSEEEDSERSSDGEEAEVDEERRSAAGSEKEEEPEDEEEEEEEEEYDEEEEEEDDDRPPKKPRHGGFILDEADVDDEYEDEDQWEDGAEDILEKEEIEASNIDNVVLDEDRSGARRLQNLWRDQREEELGEYYMKKYAKSSVGETVYGGSDELSDDITQQQLLPGVKDPNLWTVKCKIGEERATAISLMRKFIAYQFTDTPLQIKSVVAPEHVKGYIYVEAYKQTHVKQAIEGVGNLRLGYWNQQMVPIKEMTDVLKVVKEVANLKPKSWVRLKRGIYKDDIAQVDYVEPSQNTISLKMIPRIDYDRIKARMSLKDWFAKRKKFKRPPQRLFDAEKIRSLGGDVASDGDFLIFEGNRYSRKGFLFKSFAMSAVITEGVKPTLSELEKFEDQPEGIDLEVVTESTGKEREHNFQPGDNVEVCEGELINLQGKILSVDGNKITIMPKHEDLKDMLEFPAQELRKYFKMGDHVKVIAGRFEGDTGLIVRVEENFVILFSDLTMHELKVLPRDLQLCSETASGVDVGGQHEWGELVQLDPQTVGVIVRLERETFQVLNMYGKVVTVRHQAVTRKKDNRFAVALDSEQNNIHVKDIVKVIDGPHSGREGEIRHLFRSFAFLHCKKLVENGGMFVCKTRHLVLAGGSKPRDVTNFTVGGFAPMSPRISSPMHPSAGGQRGGFGSPGGGSGGMSRGRGRRDNELIGQTVRISQGPYKGYIGVVKDATESTARVELHSTCQTISVDRQRLTTVGSRRPGGMTSTYGRTPMYGSQTPMYGSGSRTPMYGSQTPLQDGSRTPHYGSQTPLHDGSRTPAQSGAWDPNNPNTPSRAEEEYEYAFDDEPTPSPQAYGGTPNPQTPGYPDPSSPQVNPQYNPQTPGTPAMYNTDQFSPYAAPSPQGSYQPSPSPQSYHQVAPSPAGYQNTHSPASYHPTPSPMAYQASPSPSPVGYSPMTPGAPSPGGYNPHTPGSGIEQNSSDWVTTDIQVKVRDTYLDTQVVGQTGVIRSVTGGMCSVYLKDSEKVVSISSEHLEPITPTKNNKVKVILGEDREATGVLLSIDGEDGIVRMDLDEQLKILNLRFLGKLLEA", "length": 1087, "header": "sp|O00267-1|SPT5H_HUMAN Isoform 1 of Transcription elongation factor SPT5 OS=Homo sapiens OX=9606 GN=SUPT5H PE=1 SV=1 CANONICAL=O00267-1" }, "locus": { "chromosome": "19", "start_pos": 39476396, "end_pos": 39445891, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000432763.7", "url": "https://www.ensembl.org/id/ENST00000432763.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000404029.4", "url": "https://www.ensembl.org/id/ENSP00000404029.4" } ] } }, { "isoform_ac": "O00267-2", "url": "", "sequence": { "sequence": "MSDSEDSNFSEEEDSERSSDGEEAEVDEERRSAAGSEKEEEPEDEEEEEEEEEYDEEEEEEDDDRPPKKPRHGGFILDEADVDDEYEDEDQWEDGAEDILEKASNIDNVVLDEDRSGARRLQNLWRDQREEELGEYYMKKYAKSSVGETVYGGSDELSDDITQQQLLPGVKDPNLWTVKCKIGEERATAISLMRKFIAYQFTDTPLQIKSVVAPEHVKGYIYVEAYKQTHVKQAIEGVGNLRLGYWNQQMVPIKEMTDVLKVVKEVANLKPKSWVRLKRGIYKDDIAQVDYVEPSQNTISLKMIPRIDYDRIKARMSLKDWFAKRKKFKRPPQRLFDAEKIRSLGGDVASDGDFLIFEGNRYSRKGFLFKSFAMSAVITEGVKPTLSELEKFEDQPEGIDLEVVTESTGKEREHNFQPGDNVEVCEGELINLQGKILSVDGNKITIMPKHEDLKDMLEFPAQELRKYFKMGDHVKVIAGRFEGDTGLIVRVEENFVILFSDLTMHELKVLPRDLQLCSETASGVDVGGQHEWGELVQLDPQTVGVIVRLERETFQVLNMYGKVVTVRHQAVTRKKDNRFAVALDSEQNNIHVKDIVKVIDGPHSGREGEIRHLFRSFAFLHCKKLVENGGMFVCKTRHLVLAGGSKPRDVTNFTVGGFAPMSPRISSPMHPSAGGQRGGFGSPGGGSGGMSRGRGRRDNELIGQTVRISQGPYKGYIGVVKDATESTARVELHSTCQTISVDRQRLTTVGSRRPGGMTSTYGRTPMYGSQTPMYGSGSRTPMYGSQTPLQDGSRTPHYGSQTPLHDGSRTPAQSGAWDPNNPNTPSRAEEEYEYAFDDEPTPSPQAYGGTPNPQTPGYPDPSSPQVNPQYNPQTPGTPAMYNTDQFSPYAAPSPQGSYQPSPSPQSYHQVAPSPAGYQNTHSPASYHPTPSPMAYQASPSPSPVGYSPMTPGAPSPGGYNPHTPGSGIEQNSSDWVTTDIQVKVRDTYLDTQVVGQTGVIRSVTGGMCSVYLKDSEKVVSISSEHLEPITPTKNNKVKVILGEDREATGVLLSIDGEDGIVRMDLDEQLKILNLRFLGKLLEA", "length": 1083, "header": "sp|O00267-2|SPT5H_HUMAN Isoform 2 of Transcription elongation factor SPT5 OS=Homo sapiens OX=9606 GN=SUPT5H PE=1 SV=1 CANONICAL=O00267-1" }, "locus": { "chromosome": "19", "start_pos": 39476396, "end_pos": 39445891, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000359191.10", "url": "https://www.ensembl.org/id/ENST00000359191.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000352117.6", "url": "https://www.ensembl.org/id/ENSP00000352117.6" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 18, "start_aa": "Ser", "end_pos": 18, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser18", "evidence": [ { "id": "O00267", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00267" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" }, { "id": "O00267", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O00267" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 658, "start_aa": "Thr", "end_pos": 658, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr658", "evidence": [ { "id": "O00267", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00267" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" }, { "id": "O00267", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O00267" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 763, "start_aa": "Ser", "end_pos": 763, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser763", "evidence": [ { "id": "O00267", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00267" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" }, { "id": "O00267", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O00267" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 775, "start_aa": "Thr", "end_pos": 775, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr775", "evidence": [ { "id": "O00267", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O00267" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 780, "start_aa": "Ser", "end_pos": 780, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser780", "evidence": [ { "id": "O00267", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O00267" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "HQVAPSPAGY", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 912, "start_aa": "His", "end_pos": 921, "end_aa": "Tyr", "evidence": [ { "id": "O00267", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 917, "start_aa": "Ser", "end_pos": 917, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser917", "evidence": [ { "id": "O00267", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "HPTPSPMAY", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 931, "start_aa": "His", "end_pos": 939, "end_aa": "Tyr", "evidence": [ { "id": "O00267", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] } ], "phosphorylation": [ { "start_pos": 1034, "end_pos": 1034, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O00267", "url": "https://www.uniprot.org/uniprot/O00267" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O00267", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00267" }, { "database": "PubMed", "id": "17924679", "url": "https://glygen.org/publication/PubMed/17924679" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "phospho.ELM", "id": "O00267", "url": "http://phospho.elm.eu.org/byAccession/O00267.html" } ], "site_lbl": "Thr1034" }, { "start_pos": 19, "end_pos": 19, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "O00267", "url": "http://phospho.elm.eu.org/byAccession/O00267.html" }, { "database": "iPTMnet", "id": "O00267", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00267" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ], "site_lbl": "Ser19" }, { "start_pos": 2, "end_pos": 2, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00267", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00267" }, { "database": "PubMed", "id": "18157150", "url": "https://glygen.org/publication/PubMed/18157150" } ], "site_lbl": "Ser2" }, { 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Simmen KA, Lewis JD, Gunderson SI, Polycarpou-Schwarz M, Moncollin V, Egly JM, Mattaj IW", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807505", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807505" } ], "reference": [ { "type": "PubMed", "id": "8253082", "url": "https://glygen.org/publication/PubMed/8253082" } ] }, { "title": "Targeting TBP to a non-TATA box cis-regulatory element: a TBP-containing complex activates transcription from snRNA promoters through the PSE.", "journal": "Genes & development", "date": "1993", "authors": "Sadowski CL, Henry RW, Lobo SM, Hernandez N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807505", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807505" } ], "reference": [ { "type": "PubMed", "id": "8339931", "url": "https://glygen.org/publication/PubMed/8339931" } ] }, { "title": "Potentiation of RNA polymerase II transcription by Gal4-VP16 during but not after DNA replication and chromatin assembly.", "journal": "Genes & development", "date": "1993", "authors": "Kamakaka RT, Bulger M, Kadonaga JT", "evidence": [ { "database": "Reactome", "id": "R-HSA-674695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-674695" } ], "reference": [ { "type": "PubMed", "id": "8370526", "url": "https://glygen.org/publication/PubMed/8370526" } ] }, { "title": "The Oct-1 POU-specific domain can stimulate small nuclear RNA gene transcription by stabilizing the basal transcription complex SNAPc.", "journal": "Molecular and cellular biology", "date": "1996", "authors": "Mittal V, Cleary MA, Herr W, Hernandez N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807505", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807505" } ], "reference": [ { "type": "PubMed", "id": "8628262", "url": "https://glygen.org/publication/PubMed/8628262" } ] }, { "title": "The transcription factors Sp1 and Oct-1 interact physically to regulate human U2 snRNA gene expression.", "journal": "Nucleic acids research", "date": "1996", "authors": "Strom AC, Forsberg M, Lillhager P, Westin G", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807505", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807505" } ], "reference": [ { "type": "PubMed", "id": "8668525", "url": "https://glygen.org/publication/PubMed/8668525" } ] }, { "title": "Isolation, sequencing, and mapping of the human homologue of the yeast transcription factor, SPT5.", "journal": "Genomics", "date": "1996", "authors": "Chiang P W, Fogel E, Jackson C L, Lieuallen K, Lennon G, Qu X, Wang S Q, Kurnit D M", "evidence": [ { "database": "UniProtKB", "id": "O00267", "url": "https://www.uniprot.org/uniprot/O00267" } ], "reference": [ { "type": "PubMed", "id": "8975720", "url": "https://glygen.org/publication/PubMed/8975720" } ] }, { "title": "Staf, a promiscuous activator for enhanced transcription by RNA polymerases II and III.", "journal": "The EMBO journal", "date": "1997", "authors": "Schaub M, Myslinski E, Schuster C, Krol A, Carbon P", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807505", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6807505" } ], "reference": [ { "type": "PubMed", "id": "9009278", "url": "https://glygen.org/publication/PubMed/9009278" } ] }, { "title": "p53 activates Fanconi anemia group C gene expression.", "journal": "Human molecular genetics", "date": "1997", "authors": "Liebetrau W, Budde A, Savoia A, Grummt F, Hoehn H", "evidence": [ { "database": "Reactome", "id": "R-HSA-6796648", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6796648" } ], "reference": [ { "type": "PubMed", "id": "9063748", "url": "https://glygen.org/publication/PubMed/9063748" } ] }, { "title": "Differential in vivo activation of the class II and class III snRNA genes by the POU-specific domain of Oct-1.", "journal": "Nucleic acids research", "date": "1997", "authors": "Murphy S", "evidence": [ { "database": "Reactome", "id": "R-HSA-6807505", "url": 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Function", "total": 5, "go_terms": [ { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "O00267", "url": "https://www.uniprot.org/uniprot/O00267" } ], "pmid": "" }, { "name": "RNA binding", "id": "GO:0003723", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003723", "evidence": [ { "database": "UniProtKB", "id": "O00267", "url": "https://www.uniprot.org/uniprot/O00267" } ], "pmid": "" }, { "name": "mRNA binding", "id": "GO:0003729", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003729", "evidence": [ { "database": "UniProtKB", "id": "O00267", "url": "https://www.uniprot.org/uniprot/O00267" } ], "pmid": "" }, { "name": "enzyme binding", "id": "GO:0019899", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019899", "evidence": [ { "database": "UniProtKB", "id": "O00267", "url": "https://www.uniprot.org/uniprot/O00267" } ], "pmid": "" }, { "name": "protein heterodimerization activity", "id": "GO:0046982", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046982", "evidence": [ { "database": "UniProtKB", "id": "O00267", "url": "https://www.uniprot.org/uniprot/O00267" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 656, "end_pos": 658, "annotation": "n_glycosylation_sequon" }, { "start_pos": 8, "end_pos": 10, "annotation": "n_glycosylation_sequon" }, { "start_pos": 975, "end_pos": 977, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Methylated by PRMT1/HRMT1L2 and PRMT5/SKB1. Methylation negatively regulates interaction with P-TEFb and RNA polymerase II.", "evidence": [ { "database": "UniProtKB", "id": "O00267", "url": "https://www.uniprot.org/uniprot/O00267" }, { "database": "PubMed", "id": "12718890", "url": "https://glygen.org/publication/PubMed/12718890" } ] }, { "annotation": "Phosphorylated by CDK7 and CDK9. Phosphorylation by P-TEFb alleviates transcriptional pausing and can stimulate transcriptional elongation from the HIV-1 LTR. P-TEFb dependent phosphorylation is stimulated by the HIV-1 Tat protein. Phosphorylation may also stimulate interaction with PIN1. 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