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Aliases for SUPT6H Gene

Aliases for SUPT6H Gene

  • SPT6 Homolog, Histone Chaperone 2 3 5
  • Histone Chaperone Suppressor Of Ty6 3 4
  • Tat-Cotransactivator 2 Protein 3 4
  • Tat-CT2 Protein 3 4
  • SPT6H 3 4
  • Suppressor Of Ty 6 Homolog (S. Cerevisiae) 2
  • Suppressor Of Ty (S.Cerevisiae) 6 Homolog 2
  • Transcription Elongation Factor SPT6 3
  • Suppressor Of Ty 6 Homolog 3
  • KIAA0162 4
  • Emb-5 3
  • HSPT6 4
  • SPT6 3

External Ids for SUPT6H Gene

Previous GeneCards Identifiers for SUPT6H Gene

  • GC17P026846
  • GC17P028889
  • GC17P027134
  • GC17P027145
  • GC17P024013
  • GC17P026989
  • GC17P023197

Summaries for SUPT6H Gene

GeneCards Summary for SUPT6H Gene

SUPT6H (SPT6 Homolog, Histone Chaperone) is a Protein Coding gene. Diseases associated with SUPT6H include Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb. Among its related pathways are Formation of HIV elongation complex in the absence of HIV Tat and Gene Expression. GO annotations related to this gene include nucleic acid binding and transcription factor activity, sequence-specific DNA binding.

UniProtKB/Swiss-Prot for SUPT6H Gene

  • Transcription elongation factor which binds histone H3 and plays a key role in the regulation of transcription elongation and mRNA processing. Enhances the transcription elongation by RNA polymerase II (RNAPII) and is also required for the efficient activation of transcriptional elongation by the HIV-1 nuclear transcriptional activator, Tat. Besides chaperoning histones in transcription, acts to transport and splice mRNA by forming a complex with IWS1 and the C-terminal domain (CTD) of the RNAPII subunit RPB1 (POLR2A). The SUPT6H:IWS1:CTD complex recruits mRNA export factors (ALYREF/THOC4, EXOSC10) as well as histone modifying enzymes (such as SETD2), to ensure proper mRNA splicing, efficient mRNA export and elongation-coupled H3K36 methylation, a signature chromatin mark of active transcription. SUPT6H via its association with SETD1A, regulates both class-switch recombination and somatic hypermutation through formation of H3K4me3 epigenetic marks on activation-induced cytidine deaminase (AICDA) target loci. Promotes the activation of the myogenic gene program by entailing erasure of the repressive H3K27me3 epigenetic mark through stabilization of the chromatin interaction of the H3K27 demethylase KDM6A.

Gene Wiki entry for SUPT6H Gene

Additional gene information for SUPT6H Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SUPT6H Gene

Genomics for SUPT6H Gene

Regulatory Elements for SUPT6H Gene


Enhancers around SUPT6H on UCSC Golden Path with GeneCards custom track

Promoters for SUPT6H Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000092749 9 2201 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for SUPT6H Gene

Chromosome:
17
Start:
28,662,091 bp from pter
End:
28,702,684 bp from pter
Size:
40,594 bases
Orientation:
Plus strand

Genomic View for SUPT6H Gene

Genes around SUPT6H on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SUPT6H Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SUPT6H Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SUPT6H Gene

Proteins for SUPT6H Gene

  • Protein details for SUPT6H Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7KZ85-SPT6H_HUMAN
    Recommended name:
    Transcription elongation factor SPT6
    Protein Accession:
    Q7KZ85
    Secondary Accessions:
    • A7E2B4
    • Q15737
    • Q6GMQ4
    • Q7KYW9
    • Q7LDK4
    • Q8N526
    • Q92775
    • Q96AH3
    • Q9BTH9
    • Q9BTI2

    Protein attributes for SUPT6H Gene

    Size:
    1726 amino acids
    Molecular mass:
    199073 Da
    Quaternary structure:
    • Interacts with RNA polymerase II and the DRB sensitivity-inducing factor complex (DSIF complex), which is composed of SUPT5H and SUPT4H1. Interacts with human cytomegalovirus/HHV-5 protein UL69. Interacts with KDM6A (By similarity). Interacts (via SH2 domain) with SETD1A (By similarity). Interacts (via SH2 domain) with POLR2A phosphorylated at Ser-2. Interacts with IWS1, AICDA and PAAF1. Interacts with histone H2B and H3.
    SequenceCaution:
    • Sequence=AAB18949.1; Type=Frameshift; Positions=988; Evidence={ECO:0000305}; Sequence=AAC50821.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH33074.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA11479.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for SUPT6H Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SUPT6H Gene

Post-translational modifications for SUPT6H Gene

  • Ubiquitination at posLast=402402, posLast=538538, Lys844, posLast=10021002, Lys1100, posLast=12431243, Lys1341, posLast=14711471, and Lys1512
  • Modification sites at PhosphoSitePlus

Other Protein References for SUPT6H Gene

No data available for DME Specific Peptides for SUPT6H Gene

Domains & Families for SUPT6H Gene

Gene Families for SUPT6H Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for SUPT6H Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7KZ85

UniProtKB/Swiss-Prot:

SPT6H_HUMAN :
  • Belongs to the SPT6 family.
Family:
  • Belongs to the SPT6 family.
genes like me logo Genes that share domains with SUPT6H: view

Function for SUPT6H Gene

Molecular function for SUPT6H Gene

GENATLAS Biochemistry:
putative chromatin structure regulator,yeast spt6 (suppressor of Ty) homolog,ubiquitously expressed,tighly linked to WHN
UniProtKB/Swiss-Prot Function:
Transcription elongation factor which binds histone H3 and plays a key role in the regulation of transcription elongation and mRNA processing. Enhances the transcription elongation by RNA polymerase II (RNAPII) and is also required for the efficient activation of transcriptional elongation by the HIV-1 nuclear transcriptional activator, Tat. Besides chaperoning histones in transcription, acts to transport and splice mRNA by forming a complex with IWS1 and the C-terminal domain (CTD) of the RNAPII subunit RPB1 (POLR2A). The SUPT6H:IWS1:CTD complex recruits mRNA export factors (ALYREF/THOC4, EXOSC10) as well as histone modifying enzymes (such as SETD2), to ensure proper mRNA splicing, efficient mRNA export and elongation-coupled H3K36 methylation, a signature chromatin mark of active transcription. SUPT6H via its association with SETD1A, regulates both class-switch recombination and somatic hypermutation through formation of H3K4me3 epigenetic marks on activation-induced cytidine deaminase (AICDA) target loci. Promotes the activation of the myogenic gene program by entailing erasure of the repressive H3K27me3 epigenetic mark through stabilization of the chromatin interaction of the H3K27 demethylase KDM6A.

Phenotypes From GWAS Catalog for SUPT6H Gene

Gene Ontology (GO) - Molecular Function for SUPT6H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000991 transcription factor activity, core RNA polymerase II binding IBA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding TAS 8786132
GO:0003723 RNA binding IDA 22658674
genes like me logo Genes that share ontologies with SUPT6H: view
genes like me logo Genes that share phenotypes with SUPT6H: view

Animal Model Products

CRISPR Products

miRNA for SUPT6H Gene

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SUPT6H
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SUPT6H Gene

Localization for SUPT6H Gene

Subcellular locations from UniProtKB/Swiss-Prot for SUPT6H Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SUPT6H gene
Compartment Confidence
nucleus 5
plasma membrane 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SUPT6H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 8786132
GO:0005654 nucleoplasm TAS --
GO:0008023 transcription elongation factor complex IBA --
GO:0035327 transcriptionally active chromatin IBA --
genes like me logo Genes that share ontologies with SUPT6H: view

Pathways & Interactions for SUPT6H Gene

genes like me logo Genes that share pathways with SUPT6H: view

Gene Ontology (GO) - Biological Process for SUPT6H Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006139 nucleobase-containing compound metabolic process IEA --
GO:0006338 chromatin remodeling NAS 8786132
GO:0006342 chromatin silencing IBA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated NAS 8786132
genes like me logo Genes that share ontologies with SUPT6H: view

No data available for SIGNOR curated interactions for SUPT6H Gene

Drugs & Compounds for SUPT6H Gene

No Compound Related Data Available

Transcripts for SUPT6H Gene

Unigene Clusters for SUPT6H Gene

Suppressor of Ty 6 homolog (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SUPT6H
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SUPT6H Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22a ·
SP1: - -
SP2: - - - - - - - - - - - - -
SP3:
SP4:
SP5:
SP6:

ExUns: 22b ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32 ^ 33a · 33b ^ 34a · 34b ^ 35
SP1: - -
SP2: - - - - - - - - - - - - - - - -
SP3:
SP4:
SP5:
SP6:

Relevant External Links for SUPT6H Gene

GeneLoc Exon Structure for
SUPT6H
ECgene alternative splicing isoforms for
SUPT6H

Expression for SUPT6H Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SUPT6H Gene

Protein differential expression in normal tissues from HIPED for SUPT6H Gene

This gene is overexpressed in Lymph node (14.9) and Peripheral blood mononuclear cells (13.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SUPT6H Gene



Protein tissue co-expression partners for SUPT6H Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SUPT6H Gene:

SUPT6H

SOURCE GeneReport for Unigene cluster for SUPT6H Gene:

Hs.250429

mRNA Expression by UniProt/SwissProt for SUPT6H Gene:

Q7KZ85-SPT6H_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for SUPT6H Gene

  • Nervous system(4.8)
  • Lung(4.7)
  • Liver(4.4)
  • Bone marrow(4.3)
  • Eye(3.8)
  • Blood(2.6)
  • Intestine(2.4)
  • Kidney(2)
genes like me logo Genes that share expression patterns with SUPT6H: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SUPT6H Gene

Orthologs for SUPT6H Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SUPT6H Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SUPT6H 33 34
  • 99.46 (n)
oppossum
(Monodelphis domestica)
Mammalia SUPT6H 34
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 97 (a)
OneToMany
-- 34
  • 94 (a)
OneToMany
-- 34
  • 89 (a)
OneToMany
-- 34
  • 88 (a)
OneToMany
-- 34
  • 80 (a)
OneToMany
dog
(Canis familiaris)
Mammalia SUPT6H 33 34
  • 93.45 (n)
cow
(Bos Taurus)
Mammalia SUPT6H 33 34
  • 92.68 (n)
rat
(Rattus norvegicus)
Mammalia Supt6h 33
  • 90.71 (n)
mouse
(Mus musculus)
Mammalia Supt6 33 16 34
  • 90.56 (n)
chicken
(Gallus gallus)
Aves SUPT6H 33 34
  • 80.91 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 89 (a)
OneToMany
-- 34
  • 67 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia supt6h 33
  • 77.71 (n)
Str.17068 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.14650 33
zebrafish
(Danio rerio)
Actinopterygii supt6h 33 34
  • 74.29 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12235 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003619 33
  • 59.37 (n)
fruit fly
(Drosophila melanogaster)
Insecta Spt6 35 33 34
  • 56.18 (n)
worm
(Caenorhabditis elegans)
Secernentea emb-5 33 34
  • 49.08 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAR031W 33
  • 44.63 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B11385g 33
  • 44.1 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SPT6 33 34 36
  • 42.34 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons GTB1 33
  • 44.58 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU04611 33
  • 46.02 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes spt6 33
  • 43.53 (n)
Species where no ortholog for SUPT6H was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SUPT6H Gene

ENSEMBL:
Gene Tree for SUPT6H (if available)
TreeFam:
Gene Tree for SUPT6H (if available)

Paralogs for SUPT6H Gene

No data available for Paralogs for SUPT6H Gene

Variants for SUPT6H Gene

Sequence variations from dbSNP and Humsavar for SUPT6H Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000122604 -- 28,702,432(+) TGCCA(A/G)TTCCT downstream-variant-500B, utr-variant-3-prime
rs1000171026 -- 28,695,045(+) GATGG(A/C)ACCTT intron-variant
rs1000560219 -- 28,684,238(+) TCCCA(C/T)AGCTA intron-variant
rs1000612590 -- 28,684,514(+) TTTCC(A/G)TAGCA intron-variant
rs1000623428 -- 28,689,242(+) TATTC(C/T)ATTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SUPT6H Gene

Variant ID Type Subtype PubMed ID
dgv542e199 CNV deletion 23128226
esv3554286 CNV deletion 23714750
nsv1064087 CNV gain 25217958

Variation tolerance for SUPT6H Gene

Residual Variation Intolerance Score: 1.01% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.06; 37.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SUPT6H Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SUPT6H

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SUPT6H Gene

Disorders for SUPT6H Gene

MalaCards: The human disease database

(1) MalaCards diseases for SUPT6H Gene - From: DISEASES

Disorder Aliases PubMed IDs
chromosome 17q11.2 deletion syndrome, 1.4-mb
  • chromosome 17q11.2 deletion syndrome, 1.4mb
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SUPT6H

Human Genome Epidemiology (HuGE) Navigator
SUPT6H
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SUPT6H
genes like me logo Genes that share disorders with SUPT6H: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SUPT6H Gene

Publications for SUPT6H Gene

  1. Identification and analysis of the human and murine putative chromatin structure regulator SUPT6H and Supt6h. (PMID: 8786132) Chiang PW … Kurnit DM (Genomics 1996) 2 3 4 22 60
  2. The histone chaperone Spt6 coordinates histone H3K27 demethylation and myogenesis. (PMID: 23503590) Wang AH … Sartorelli V (The EMBO journal 2013) 2 3 4 60
  3. Human Spt6 stimulates transcription elongation by RNA polymerase II in vitro. (PMID: 15060154) Endoh M … Handa H (Molecular and cellular biology 2004) 3 4 22 60
  4. Functional interaction between pleiotropic transactivator pUL69 of human cytomegalovirus and the human homolog of yeast chromatin regulatory protein SPT6. (PMID: 10933715) Winkler M … Stamminger T (Journal of virology 2000) 3 4 22 60
  5. Spt6 levels are modulated by PAAF1 and proteasome to regulate the HIV-1 LTR. (PMID: 22316138) Nakamura M … Kiernan R (Retrovirology 2012) 3 4 60

Products for SUPT6H Gene

Sources for SUPT6H Gene

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