Aliases for SUB1 Gene

Aliases for SUB1 Gene

  • SUB1 Regulator Of Transcription 2 3 5
  • Positive Cofactor 4 2 3 4
  • PC4 2 3 4
  • P14 2 3 4
  • Activated RNA Polymerase II Transcriptional Coactivator P15 3 4
  • SUB1 Homolog, Transcriptional Regulator 2 3
  • P15 2 3
  • Activated RNA Polymerase II Transcription Cofactor 4 3
  • SUB1 Homolog (S. Cerevisiae) 2
  • SUB1 Homolog 4
  • RPO2TC1 4
  • SUB1 5

External Ids for SUB1 Gene

Previous GeneCards Identifiers for SUB1 Gene

  • GC05P032622

Summaries for SUB1 Gene

GeneCards Summary for SUB1 Gene

SUB1 (SUB1 Regulator Of Transcription) is a Protein Coding gene. Diseases associated with SUB1 include Atrial Septal Defect 4 and Indolent Systemic Mastocytosis. Gene Ontology (GO) annotations related to this gene include single-stranded DNA binding.

UniProtKB/Swiss-Prot Summary for SUB1 Gene

  • General coactivator that functions cooperatively with TAFs and mediates functional interactions between upstream activators and the general transcriptional machinery. May be involved in stabilizing the multiprotein transcription complex. Binds single-stranded DNA. Also binds, in vitro, non-specifically to double-stranded DNA (ds DNA).

Gene Wiki entry for SUB1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SUB1 Gene

Genomics for SUB1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SUB1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SUB1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SUB1

Top Transcription factor binding sites by QIAGEN in the SUB1 gene promoter:
  • aMEF-2
  • ATF-2
  • CREB
  • deltaCREB
  • FOXO1
  • FOXO1a
  • MEF-2A
  • Pax-2
  • Pax-2a
  • RORalpha2

Genomic Locations for SUB1 Gene

Genomic Locations for SUB1 Gene
chr5:32,531,633-32,604,079
(GRCh38/hg38)
Size:
72,447 bases
Orientation:
Plus strand
chr5:32,531,739-32,604,185
(GRCh37/hg19)
Size:
72,447 bases
Orientation:
Plus strand

Genomic View for SUB1 Gene

Genes around SUB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SUB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SUB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SUB1 Gene

Proteins for SUB1 Gene

  • Protein details for SUB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P53999-TCP4_HUMAN
    Recommended name:
    Activated RNA polymerase II transcriptional coactivator p15
    Protein Accession:
    P53999
    Secondary Accessions:
    • Q96L29

    Protein attributes for SUB1 Gene

    Size:
    127 amino acids
    Molecular mass:
    14395 Da
    Quaternary structure:
    • Homodimer. Interacts with CSTF2.

    Three dimensional structures from OCA and Proteopedia for SUB1 Gene

neXtProt entry for SUB1 Gene

Post-translational modifications for SUB1 Gene

  • Activity is controlled by protein kinases that target the regulatory region. Phosphorylation inactivates both ds DNA-binding and cofactor function, but does not affect binding to ssDNA. Seems to be phosphorylated in vivo by CK2 in at least 7 sites in the N-terminal Ser-rich region.
  • Ubiquitination at Lys53 and Lys68
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SUB1 Gene

Domains & Families for SUB1 Gene

Gene Families for SUB1 Gene

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

Protein Domains for SUB1 Gene

InterPro:
Blocks:
  • ssDNA-binding transcriptional regulator
  • Transcriptional coactivator p15 (PC4)
ProtoNet:

Suggested Antigen Peptide Sequences for SUB1 Gene

GenScript: Design optimal peptide antigens:
  • p14 (TCP4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P53999

UniProtKB/Swiss-Prot:

TCP4_HUMAN :
  • Belongs to the transcriptional coactivator PC4 family.
Family:
  • Belongs to the transcriptional coactivator PC4 family.
genes like me logo Genes that share domains with SUB1: view

Function for SUB1 Gene

Molecular function for SUB1 Gene

UniProtKB/Swiss-Prot Function:
General coactivator that functions cooperatively with TAFs and mediates functional interactions between upstream activators and the general transcriptional machinery. May be involved in stabilizing the multiprotein transcription complex. Binds single-stranded DNA. Also binds, in vitro, non-specifically to double-stranded DNA (ds DNA).

Phenotypes From GWAS Catalog for SUB1 Gene

Gene Ontology (GO) - Molecular Function for SUB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0003677 DNA binding IEA --
GO:0003678 DNA helicase activity IMP --
GO:0003690 double-stranded DNA binding IMP --
GO:0003697 single-stranded DNA binding IMP,IDA 8062391
genes like me logo Genes that share ontologies with SUB1: view
genes like me logo Genes that share phenotypes with SUB1: view

Animal Models for SUB1 Gene

MGI Knock Outs for SUB1:
  • Sub1 Sub1<tm1.1Ics>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SUB1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SUB1 Gene

Localization for SUB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SUB1 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 SUB1 gene
Compartment Confidence
nucleus 5
extracellular 4
plasma membrane 2
cytosol 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SUB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm IDA --
GO:0005667 transcription factor complex IDA 8062391
GO:0005730 nucleolus IDA --
GO:0070062 extracellular exosome HDA 20458337
genes like me logo Genes that share ontologies with SUB1: view

Pathways & Interactions for SUB1 Gene

PathCards logo

SuperPathways for SUB1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SUB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IDA 8062391
GO:0032508 DNA duplex unwinding IMP --
GO:0051053 negative regulation of DNA metabolic process IDA 28369605
GO:0051260 protein homooligomerization IMP --
genes like me logo Genes that share ontologies with SUB1: view

No data available for Pathways by source and SIGNOR curated interactions for SUB1 Gene

Drugs & Compounds for SUB1 Gene

No Compound Related Data Available

Transcripts for SUB1 Gene

mRNA/cDNA for SUB1 Gene

1 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SUB1

Alternative Splicing Database (ASD) splice patterns (SP) for SUB1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c · 5d
SP1: -
SP2: -
SP3: - -
SP4:

Relevant External Links for SUB1 Gene

GeneLoc Exon Structure for
SUB1

Expression for SUB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SUB1 Gene

Protein differential expression in normal tissues from HIPED for SUB1 Gene

This gene is overexpressed in Bone (12.7) and Tlymphocyte (11.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SUB1 Gene



Protein tissue co-expression partners for SUB1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SUB1

SOURCE GeneReport for Unigene cluster for SUB1 Gene:

Hs.229641

Evidence on tissue expression from TISSUES for SUB1 Gene

  • Nervous system(4.9)
  • Liver(4.6)
  • Bone marrow(4.5)
  • Lung(4.5)
  • Kidney(3)
  • Skin(3)
  • Intestine(3)
  • Blood(2.8)
  • Pancreas(2.7)
  • Muscle(2.7)
  • Heart(2.6)
  • Lymph node(2.6)
  • Spleen(2.4)
  • Stomach(2.3)
  • Eye(2.2)
  • Thyroid gland(2.1)
genes like me logo Genes that share expression patterns with SUB1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SUB1 Gene

Orthologs for SUB1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SUB1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SUB1 30 31
  • 99.21 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SUB1 30 31
  • 94.23 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SUB1 30 31
  • 93.18 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sub1 30
  • 88.98 (n)
Mouse
(Mus musculus)
Mammalia Sub1 30 17 31
  • 87.93 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SUB1 31
  • 86 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SUB1 31
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SUB1 30 31
  • 85.98 (n)
OneToMany
-- 31
  • 53 (a)
OneToMany
-- 31
  • 46 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia SUB1 31
  • 79 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sub1 30
  • 77.25 (n)
Str.3149 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.21992 30
Zebrafish
(Danio rerio)
Actinopterygii sub1b 31
  • 73 (a)
OneToMany
sub1a 30 31
  • 71.54 (n)
OneToMany
Dr.15428 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8767 30
Worm
(Caenorhabditis elegans)
Secernentea T13F2.2 31
  • 35 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SUB1 31 33
  • 13 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 43 (a)
OneToOne
Species where no ortholog for SUB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • 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 Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SUB1 Gene

ENSEMBL:
Gene Tree for SUB1 (if available)
TreeFam:
Gene Tree for SUB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SUB1: view image

Paralogs for SUB1 Gene

(1) SIMAP similar genes for SUB1 Gene using alignment to 3 proteins:

  • TCP4_HUMAN
  • D6R970_HUMAN
  • D6RC37_HUMAN

Pseudogenes.org Pseudogenes for SUB1 Gene

genes like me logo Genes that share paralogs with SUB1: view

No data available for Paralogs for SUB1 Gene

Variants for SUB1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SUB1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
754372 Likely Benign: not provided 32,591,634(+) C/T SYNONYMOUS_VARIANT
769648 Benign: not provided 32,598,951(+) T/A INTRON_VARIANT
rs17850527 - p.Ser11Gly

Additional dbSNP identifiers (rs#s) for SUB1 Gene

Structural Variations from Database of Genomic Variants (DGV) for SUB1 Gene

Variant ID Type Subtype PubMed ID
esv2759338 CNV loss 17122850
nsv964834 CNV duplication 23825009

Variation tolerance for SUB1 Gene

Residual Variation Intolerance Score: 46.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.20; 4.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SUB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SUB1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SUB1 Gene

Disorders for SUB1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SUB1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
atrial septal defect 4
  • asd4
indolent systemic mastocytosis
  • ism
tinea unguium
  • cellulitis and abscess
noonan syndrome 1
  • ns1
- elite association - COSMIC cancer census association via MalaCards
Search SUB1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SUB1

genes like me logo Genes that share disorders with SUB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SUB1 Gene

Publications for SUB1 Gene

  1. Evolutionarily conserved interaction between CstF-64 and PC4 links transcription, polyadenylation, and termination. (PMID: 11389848) Calvo O … Manley JL (Molecular cell 2001) 3 4 23
  2. The coactivator p15 (PC4) initiates transcriptional activation during TFIIA-TFIID-promoter complex formation. (PMID: 7628453) Kaiser K … Meisterernst M (The EMBO journal 1995) 3 4 23
  3. Purification, cloning, and characterization of a human coactivator, PC4, that mediates transcriptional activation of class II genes. (PMID: 8062391) Ge H … Roeder RG (Cell 1994) 2 3 4
  4. A novel mediator of class II gene transcription with homology to viral immediate-early transcriptional regulators. (PMID: 8062392) Kretzschmar M … Meisterernst M (Cell 1994) 2 3 4
  5. Yeast Sub1 and human PC4 are G-quadruplex binding proteins that suppress genome instability at co-transcriptionally formed G4 DNA. (PMID: 28369605) Lopez CR … Kim N (Nucleic acids research 2017) 2 3

Products for SUB1 Gene

  • Signalway Proteins for SUB1

Sources for SUB1 Gene