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SUPT5H (SPT5 Homolog, DSIF Elongation Factor Subunit) is a Protein Coding gene. Diseases associated with SUPT5H include Immunodeficiency With Hyper-Igm, Type 2 and Schuurs-Hoeijmakers Syndrome. Among its related pathways are HIV Transcription Elongation and Chromatin Regulation / Acetylation. Gene Ontology (GO) annotations related to this gene include chromatin binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003682 | chromatin binding | IEA | -- |
GO:0003723 | RNA binding | HDA | 22658674 |
GO:0003729 | mRNA binding | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 10075709 |
GO:0019899 | enzyme binding | IPI | 10075709 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IDA | 10075709 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0032044 | DSIF complex | IDA | 9450929 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | HIV Transcription Elongation |
.93
|
|
2 | HIV Life Cycle |
.91
.65
|
.45
|
3 | Gene Expression |
.48
|
|
4 | Chromatin Regulation / Acetylation | ||
5 | Regulation of TP53 Activity |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IMP | 10075709 |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0006366 | transcription by RNA polymerase II | TAS | -- |
GO:0006368 | transcription elongation from RNA polymerase II promoter | TAS | -- |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | · | 14c | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP8: |
ExUns: | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25a | · | 25b | ^ | 26 | ^ | 27a | · | 27b | ^ | 28a | · | 28b | ^ | 29a | · | 29b | ^ | 30a | · | 30b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||||
SP8: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SUPT5H 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SUPT5H 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SUPT5H 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SUPT5H 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SUPT5H 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Supt5h 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Supt5 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SUPT5H 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SUPT5H 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | supt5h 30 |
|
||
Str.2822 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.5044 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | supt5h 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005021 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Spt5 30 31 32 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | spt-5 30 31 |
|
OneToOne | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ADR187W 30 |
|
||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0B00891g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SPT5 30 31 33 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | GTA2 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os02g0772000 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU06929 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | spt5 30 |
|
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
727033 | Likely Benign: not provided | 39,473,305(+) | C/T | SYNONYMOUS_VARIANT | |
727605 | Benign: not provided | 39,466,693(+) | A/C | SYNONYMOUS_VARIANT | |
778832 | Benign: not provided | 39,473,002(+) | C/T | INTRON_VARIANT | |
781451 | Benign: not provided | 39,474,506(+) | C/A | INTRON_VARIANT | |
782330 | Benign: not provided | 39,453,392(+) | AAAG/A | INFRAME_DELETION |
Disorder | Aliases | PubMed IDs |
---|---|---|
immunodeficiency with hyper-igm, type 2 |
|
|
schuurs-hoeijmakers syndrome |
|
|
immunodeficiency with hyper-igm, type 1 |
|
|
ichthyosis, congenital, autosomal recessive 11 |
|
|
immune deficiency disease |
|