SUPT3H (SPT3 homolog, SAGA and STAGA complex component)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 8464
• Gene name: SPT3 homolog, SAGA and STAGA complex component
• Gene symbol: SUPT3H
• Synonyms (NCBI Gene): SPT3, SPT3L
• Chromosome: 6
• Chromosome location: 6p21.1

miRNA Show/Hide all (31)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029827	hsa-miR-26b-5p	Microarray	19088304
MIRT046510	hsa-miR-15b-5p	CLASH	23622248
MIRT1403516	hsa-miR-3160-3p	CLIP-seq
MIRT1403517	hsa-miR-3173-3p	CLIP-seq
MIRT1403518	hsa-miR-3616-3p	CLIP-seq
MIRT1403519	hsa-miR-3646	CLIP-seq
MIRT1403520	hsa-miR-3928	CLIP-seq
MIRT1403521	hsa-miR-4275	CLIP-seq
MIRT1403522	hsa-miR-4436b-3p	CLIP-seq
MIRT1403523	hsa-miR-4443	CLIP-seq
MIRT1403524	hsa-miR-4487	CLIP-seq
MIRT1403525	hsa-miR-4501	CLIP-seq
MIRT1403526	hsa-miR-4721	CLIP-seq
MIRT1403527	hsa-miR-4779	CLIP-seq
MIRT1403528	hsa-miR-548ag	CLIP-seq
MIRT1403529	hsa-miR-548ai	CLIP-seq
MIRT1403530	hsa-miR-558	CLIP-seq
MIRT1403531	hsa-miR-765	CLIP-seq
MIRT1403532	hsa-miR-873	CLIP-seq
MIRT2342956	hsa-miR-125a-3p	CLIP-seq
MIRT2342957	hsa-miR-1292	CLIP-seq
MIRT2342958	hsa-miR-1297	CLIP-seq
MIRT2342959	hsa-miR-224	CLIP-seq
MIRT2342960	hsa-miR-26a	CLIP-seq
MIRT2342961	hsa-miR-26b	CLIP-seq
MIRT2342962	hsa-miR-3659	CLIP-seq
MIRT2342963	hsa-miR-4465	CLIP-seq
MIRT2342964	hsa-miR-4471	CLIP-seq
MIRT2342965	hsa-miR-488	CLIP-seq
MIRT2342966	hsa-miR-498	CLIP-seq
MIRT2342967	hsa-miR-552	CLIP-seq

Gene ontology (GO) Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000124	Component	SAGA complex	IDA	11564863
GO:0000124	Component	SAGA complex	IEA
GO:0000124	Component	SAGA complex	NAS	9674425, 19114550
GO:0003713	Function	Transcription coactivator activity	IBA
GO:0003713	Function	Transcription coactivator activity	IDA	11564863
GO:0005634	Component	Nucleus	IDA	9726987, 11564863
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	9787080
GO:0005654	Component	Nucleoplasm	IDA
GO:0006282	Process	Regulation of DNA repair	NAS	11406595, 11564863
GO:0006355	Process	Regulation of DNA-templated transcription	NAS	9787080, 17694077
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	9603525
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	9787080
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006366	Process	Transcription by RNA polymerase II	TAS	9787080
GO:0033276	Component	Transcription factor TFTC complex	IDA	10373431
GO:0033276	Component	Transcription factor TFTC complex	NAS	10373431
GO:0043484	Process	Regulation of RNA splicing	NAS	11564863
GO:0045893	Process	Positive regulation of DNA-templated transcription	NAS	9787080, 18206972
GO:0046982	Function	Protein heterodimerization activity	IEA

Other IDs

• MIM: 602947
• HGNC: 11466
• e!Ensembl: ENSG00000196284

Protein

• UniProt ID: O75486
• Protein name: Transcription initiation protein SPT3 homolog (SPT3-like protein)
• Protein function: Probable transcriptional activator.
• PDB: 7KTR , 7KTS , 8H7G
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02269	TFIID-18kDa	24 → 116	Transcription initiation factor IID, 18kD subunit	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in all tissues tested including pancreas, kidney, skeletal muscle, liver, lung, placenta, brain and heart.
• Sequence:

  MNNTAASPMSTATSSSGRSTGKSISFATELQSMMYSLGDARRPLHETAVLVEDVVHTQLI
  NLLQQAAEVSQLRGARVITPEDLLFLMRKDKKKLRRLLKYMFIRDYKSKIVKGIDEDDLL
  EDKLSGSNNANKRQKIAQDFLNSIDQTGELLAMFEDDEIDEVKQERMERAERQTRIMDSA
  QYAEFCESRQLSFSKKASKFRDWLDCSSMEIKPNVVAMEILAYLAYETVAQLVDLALLVR
  QDMVTKAGDPFSHAISATFIQYHNSAESTAACGVEAHSDAIQPCHIREAIRRYSHRIGPL
  SPFTNAYRRNGMAFLAC

• Sequence length: 317

Pathways

KEGG Pathway:

Transcriptional misregulation in cancer

Associated diseases

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 Show/Hide Unknown Diseases (27)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	26830138	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	27182965, 28196072, 28272467, 30573740	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	23829686	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	18839057	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BELL'S PALSY	—	GWAS catalog	33602968, 34594039	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE DISEASE	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRACTURE	—	GWAS catalog	37919453	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	23829686	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEIDOCRANIAL DYSPLASIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	37359372	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIFFUSE IDIOPATHIC SKELETAL HYPEROSTOSIS	—	GWAS catalog	37156767	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL TREMOR	—	GWAS catalog	34982113	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FACIAL NERVE DISEASE	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	31959993	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARGE ARTERY STROKE	—	GWAS catalog	24262325	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	23793025	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISEASE	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	23251661	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	22763110, 30374069, 30664745, 36411363, 36889626, 40205036	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HAND	—	GWAS catalog	28855172	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	30374069, 30664745, 36376028, 36889626, 40205036	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	30664745, 40205036	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTOSCLEROSIS	—	GWAS catalog	36653343	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	22941190	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	32541925	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (14)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Neoplasms	Breast neoplasm	Pubtator	35589867	Associate	★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	27701424	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	GWASDB_DG	22763110		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	GWASCAT_DG	22763110		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	30010910		★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	24055526	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35550147	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	19955365		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	30010910	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis Knee	Osteoarthritis	Pubtator	36089590	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis of hip	Osteoarthritis Of Hip	GWASCAT_DG	30374069, 30664745		★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	GWASCAT_DG	30664745		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	BEFREE	19955365		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	27531877		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

CDC5L 8 shared diseasesBell's palsy, Bone disease, Glaucoma, Diffuse idiopathic skeletal hyperostosis, Essential tremor, Facial nerve disorder, Large artery stroke, Nervous system disease 9 shared evidence sourcesGWAS catalog (Bell's palsy), GWAS catalog (Bone disease), GWAS catalog (Diffuse idiopathic skeletal hyperostosis), GWAS catalog (Essential tremor), GWAS catalog (Facial nerve disorder), GWAS catalog (Glaucoma), GWAS catalog (Large artery stroke), GWAS catalog (Nervous system disease), GWAS catalog (Stroke) Related via 8 shared diseases including Bell's palsy, Bone disease — evidence mostly GWAS catalog. TTC23 2 shared diseasesBell's palsy, Essential tremor 2 shared evidence sourcesGWAS catalog (Bell's palsy), GWAS catalog (Essential tremor) Related via 2 shared diseases including Bell's palsy, Essential tremor — evidence mostly GWAS catalog. HIP1 2 shared diseasesEssential tremor, Large artery stroke 2 shared evidence sourcesGWAS catalog (Essential tremor), GWAS catalog (Large artery stroke) Related via 2 shared diseases including Essential tremor, Large artery stroke — evidence mostly GWAS catalog. SFRP4 3 shared diseasesBone disease, Bone fracture, Glaucoma 3 shared evidence sourcesGWAS catalog (Bone disease), GWAS catalog (Bone fracture), GWAS catalog (Glaucoma) Related via 3 shared diseases including Bone disease, Bone fracture — evidence mostly GWAS catalog. HHAT 2 shared diseasesLarge artery stroke, Nervous system disease 3 shared evidence sourcesGWAS catalog (Large artery stroke), GWAS catalog (Nervous system disease), GWAS catalog (Stroke) Related via 2 shared diseases including Large artery stroke, Nervous system disease — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
CDC5L	8	["Bell's palsy","Bone disease","Glaucoma","Diffuse idiopathic skeletal hyperostosis","Essential tremor","Facial nerve disorder","Large artery stroke","Nervous system disease"]	0	[]	9	["GWAS catalog (Bell's palsy)","GWAS catalog (Bone disease)","GWAS catalog (Diffuse idiopathic skeletal hyperostosis)","GWAS catalog (Essential tremor)","GWAS catalog (Facial nerve disorder)","GWAS catalog (Glaucoma)","GWAS catalog (Large artery stroke)","GWAS catalog (Nervous system disease)","GWAS catalog (Stroke)"]
TTC23	2	["Bell's palsy","Essential tremor"]	0	[]	2	["GWAS catalog (Bell's palsy)","GWAS catalog (Essential tremor)"]
HIP1	2	["Essential tremor","Large artery stroke"]	0	[]	2	["GWAS catalog (Essential tremor)","GWAS catalog (Large artery stroke)"]
SFRP4	3	["Bone disease","Bone fracture","Glaucoma"]	0	[]	3	["GWAS catalog (Bone disease)","GWAS catalog (Bone fracture)","GWAS catalog (Glaucoma)"]
HHAT	2	["Large artery stroke","Nervous system disease"]	0	[]	3	["GWAS catalog (Large artery stroke)","GWAS catalog (Nervous system disease)","GWAS catalog (Stroke)"]

Diseases Linked via Similar Genes

Congenital anomalies of the kidney and urinary tract Linked via 1 of 5 related genesCDC5L Obstructive pulmonary disease Linked via 1 of 5 related genesTTC23 Colorectal cancer Linked via 1 of 5 related genesHIP1 Oligodendroglioma Linked via 1 of 5 related genesHIP1 Psoriasis Linked via 1 of 5 related genesHIP1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Congenital anomalies of the kidney and urinary tract	1	["CDC5L"]
Obstructive pulmonary disease	1	["TTC23"]
Colorectal cancer	1	["HIP1"]
Oligodendroglioma	1	["HIP1"]
Psoriasis	1	["HIP1"]