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Aliases for TWISTNB Gene

Aliases for TWISTNB Gene

  • TWIST Neighbor 2 3 5
  • Twist Neighbor Protein 4

External Ids for TWISTNB Gene

Previous GeneCards Identifiers for TWISTNB Gene

  • GC07M019380
  • GC07M019482
  • GC07M019508

Summaries for TWISTNB Gene

GeneCards Summary for TWISTNB Gene

TWISTNB (TWIST Neighbor) is a Protein Coding gene. Among its related pathways are Pyrimidine metabolism (KEGG) and Gene Expression. Gene Ontology (GO) annotations related to this gene include DNA-directed 5-3 RNA polymerase activity and RNA polymerase I activity.

UniProtKB/Swiss-Prot for TWISTNB Gene

  • DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors. Through its association with RRN3/TIF-IA may be involved in recruitment of Pol I to rDNA promoters.

Additional gene information for TWISTNB Gene

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

Genomics for TWISTNB Gene

GeneHancer (GH) Regulatory Elements for TWISTNB Gene

Promoters and enhancers for TWISTNB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I019707 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 571.6 +0.4 446 2.3 PKNOX1 SMAD1 ARID4B SIN3A FEZF1 DMAP1 IRF4 YY1 SLC30A9 POLR2B TWISTNB MIR3146
GH07I020214 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 23.2 -509.1 -509065 8.4 MLX ZFP64 DMAP1 IRF4 ZNF213 E2F8 ZNF143 ZC3H11A MEF2D SSRP1 MACC1 TWISTNB RPL21P75 LOC100506098 LOC101927769
GH07I020328 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 18.2 -622.4 -622436 6.1 HDGF PKNOX1 SMAD1 SIN3A ZNF2 IRF4 ZNF48 GLIS2 ZNF143 ZNF207 LOC101927811 ITGB8 TWISTNB
GH07I020598 Enhancer 1.1 FANTOM5 Ensembl ENCODE 11.5 -889.8 -889823 0.9 CTCF PKNOX1 ZNF654 USF1 ZNF189 JUN TRIM22 USF2 REST RAD21 TWISTNB TMEM196 ITGB8 LOC402641 ABCB5
GH07I020198 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 4.8 -491.2 -491173 4.1 HDGF ATF1 PKNOX1 SMAD1 IRF4 TCF12 ATF7 RUNX3 JUNB TSHZ1 MACC1-AS1 TWISTNB LOC100506098 MACC1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TWISTNB on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TWISTNB gene promoter:

Genomic Locations for TWISTNB Gene

Genomic Locations for TWISTNB Gene
chr7:19,695,462-19,709,087
(GRCh38/hg38)
Size:
13,626 bases
Orientation:
Minus strand
chr7:19,735,085-19,748,710
(GRCh37/hg19)

Genomic View for TWISTNB Gene

Genes around TWISTNB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for TWISTNB Gene

Proteins for TWISTNB Gene

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

    Protein Symbol:
    Q3B726-RPA43_HUMAN
    Recommended name:
    DNA-directed RNA polymerase I subunit RPA43
    Protein Accession:
    Q3B726
    Secondary Accessions:
    • A0PJ45
    • B7Z724

    Protein attributes for TWISTNB Gene

    Size:
    338 amino acids
    Molecular mass:
    37432 Da
    Quaternary structure:
    • Component of the RNA polymerase I (Pol I) complex consisting of at least 13 subunits (By similarity). Interacts with RRN3/TIF-IA.
    SequenceCaution:
    • Sequence=AAH14574.1; Type=Frameshift; Positions=224; Evidence={ECO:0000305};

neXtProt entry for TWISTNB Gene

Post-translational modifications for TWISTNB Gene

No Post-translational modifications

Other Protein References for TWISTNB Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TWISTNB Gene

Domains & Families for TWISTNB Gene

Gene Families for TWISTNB Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TWISTNB Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TWISTNB Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q3B726

UniProtKB/Swiss-Prot:

RPA43_HUMAN :
  • Belongs to the eukaryotic RPA43 RNA polymerase subunit family.
Family:
  • Belongs to the eukaryotic RPA43 RNA polymerase subunit family.
genes like me logo Genes that share domains with TWISTNB: view

Function for TWISTNB Gene

Molecular function for TWISTNB Gene

UniProtKB/Swiss-Prot Function:
DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors. Through its association with RRN3/TIF-IA may be involved in recruitment of Pol I to rDNA promoters.

Phenotypes From GWAS Catalog for TWISTNB Gene

Gene Ontology (GO) - Molecular Function for TWISTNB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001054 contributes_to RNA polymerase I activity IBA --
GO:0003899 DNA-directed 5-3 RNA polymerase activity IEA --
genes like me logo Genes that share ontologies with TWISTNB: view
genes like me logo Genes that share phenotypes with TWISTNB: view

Inhibitory RNA Products

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

Localization for TWISTNB Gene

Subcellular locations from UniProtKB/Swiss-Prot for TWISTNB Gene

Nucleus, nucleolus.

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 TWISTNB gene
Compartment Confidence
nucleus 5
extracellular 2
cytoskeleton 2
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (3)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TWISTNB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IEA --
GO:0005736 DNA-directed RNA polymerase I complex IBA --
genes like me logo Genes that share ontologies with TWISTNB: view

Pathways & Interactions for TWISTNB Gene

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

Gene Ontology (GO) - Biological Process for TWISTNB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006361 transcription initiation from RNA polymerase I promoter TAS --
GO:0006362 transcription elongation from RNA polymerase I promoter TAS --
GO:0006363 termination of RNA polymerase I transcription TAS --
GO:0045815 positive regulation of gene expression, epigenetic TAS --
genes like me logo Genes that share ontologies with TWISTNB: view

No data available for SIGNOR curated interactions for TWISTNB Gene

Drugs & Compounds for TWISTNB Gene

(4) Drugs for TWISTNB Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cytidine triphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
Uridine triphosphate Experimental, Investigational Pharma 0
ATP Investigational Nutra Agonist 0

(1) Additional Compounds for TWISTNB Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with TWISTNB: view

Transcripts for TWISTNB Gene

mRNA/cDNA for TWISTNB Gene

Unigene Clusters for TWISTNB Gene

TWIST neighbor:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for TWISTNB Gene

GeneLoc Exon Structure for
TWISTNB
ECgene alternative splicing isoforms for
TWISTNB

Expression for TWISTNB Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TWISTNB Gene

This gene is overexpressed in Pancreas (12.2), CD8 Tcells (11.3), Blymphocyte (9.0), Spleen (6.7), Peripheral blood mononuclear cells (6.2), and Ovary (6.1).

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



Protein tissue co-expression partners for TWISTNB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TWISTNB Gene:

TWISTNB

SOURCE GeneReport for Unigene cluster for TWISTNB Gene:

Hs.353035

mRNA Expression by UniProt/SwissProt for TWISTNB Gene:

Q3B726-RPA43_HUMAN
Tissue specificity: Widely expressed. Expressed in all fetal and adult tissues tested, with highest expression in fetal lung, liver, and kidney, and low expression in all adult tissues.
genes like me logo Genes that share expression patterns with TWISTNB: view

Primer Products

No data available for mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for TWISTNB Gene

Orthologs for TWISTNB Gene

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

Orthologs for TWISTNB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TWISTNB 33 34
  • 99.11 (n)
dog
(Canis familiaris)
Mammalia TWISTNB 33 34
  • 85.39 (n)
cow
(Bos Taurus)
Mammalia TWISTNB 33 34
  • 84.46 (n)
rat
(Rattus norvegicus)
Mammalia Twistnb 33
  • 81.28 (n)
mouse
(Mus musculus)
Mammalia Twistnb 33 16 34
  • 80.56 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TWISTNB 34
  • 58 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TWISTNB 34
  • 41 (a)
OneToOne
chicken
(Gallus gallus)
Aves TWISTNB 33 34
  • 65.03 (n)
lizard
(Anolis carolinensis)
Reptilia TWISTNB 34
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.9460 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.5776 33
zebrafish
(Danio rerio)
Actinopterygii twistnb 34
  • 40 (a)
OneToOne
Dr.18556 33
fruit fly
(Drosophila melanogaster)
Insecta CG13773 34
  • 28 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPA43 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 25 (a)
OneToOne
Species where no ortholog for TWISTNB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for TWISTNB Gene

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

Paralogs for TWISTNB Gene

Pseudogenes.org Pseudogenes for TWISTNB Gene

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

No data available for Paralogs for TWISTNB Gene

Variants for TWISTNB Gene

Sequence variations from dbSNP and Humsavar for TWISTNB Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000016705 -- 19,707,881(-) C/G intron_variant
rs1000137496 -- 19,707,135(-) C/T intron_variant
rs1000270993 -- 19,702,452(-) C/G intron_variant
rs1000315854 -- 19,701,510(-) G/T intron_variant
rs1000347176 -- 19,696,054(-) A/G 3_prime_UTR_variant

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

Variant ID Type Subtype PubMed ID
nsv1018601 CNV gain 25217958
nsv524807 CNV gain 19592680
nsv830918 CNV loss 17160897

Variation tolerance for TWISTNB Gene

Residual Variation Intolerance Score: 66% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.58; 30.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TWISTNB Gene

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

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

Disorders for TWISTNB Gene

Additional Disease Information for TWISTNB

No disorders were found for TWISTNB Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TWISTNB Gene

Publications for TWISTNB Gene

  1. Identification and characterisation of the gene TWIST NEIGHBOR (TWISTNB) located in the microdeletion syndrome 7p21 region. (PMID: 12438708) Kosan C … Kunz J (Cytogenetic and genome research 2002) 2 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4 58
  4. Multiple interactions between RNA polymerase I, TIF-IA and TAF(I) subunits regulate preinitiation complex assembly at the ribosomal gene promoter. (PMID: 12393749) Yuan X … Grummt I (EMBO reports 2002) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for TWISTNB Gene

Sources for TWISTNB Gene

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