Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TBC1D23 Gene

Aliases for TBC1D23 Gene

  • TBC1 Domain Family Member 23 2 3 5
  • HCV Non-Structural Protein 4A-Transactivated Protein 1 3 4
  • NS4ATP1 3 4
  • HCV Nonstructural Protein 4A-Transactivated Protein 1 3
  • TBC1 Domain Family, Member 23 2

External Ids for TBC1D23 Gene

Previous GeneCards Identifiers for TBC1D23 Gene

  • GC03P101463
  • GC03P099979
  • GC03P097347

Summaries for TBC1D23 Gene

GeneCards Summary for TBC1D23 Gene

TBC1D23 (TBC1 Domain Family Member 23) is a Protein Coding gene. Diseases associated with TBC1D23 include Pneumocystosis.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D23 Gene

Genomics for TBC1D23 Gene

Regulatory Elements for TBC1D23 Gene

Enhancers for TBC1D23 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F100259 1.1 ENCODE 37.9 +0.0 29 3.4 HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 ZNF143 TBC1D23 NIT2 TFG
GH03F100256 1 Ensembl ENCODE 25 -3.4 -3435 1.4 OSR2 JUND GLIS1 FOXP2 ZIC2 ZNF652 ZNF558 TBC1D23 GC03P100236
GH03F099816 0.2 ENCODE 24.8 -442.9 -442913 2.2 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 TBC1D23 TFG FILIP1L CMSS1 HP09053
GH03F100096 1 Ensembl ENCODE 21.7 -162.2 -162245 3.3 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 TBC1D23 TFG GC03M100078 GC03M100108
GH03F100039 1 FANTOM5 Ensembl ENCODE 21.3 -216.2 -216228 9.8 PKNOX1 WRNIP1 SIN3A FEZF1 CBX5 FOS JUNB TSHZ1 TBX21 SMARCA4 FILIP1L TBC1D23 CMSS1 TMEM45A GC03M100040 PIR33357
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around TBC1D23 on UCSC Golden Path with GeneCards custom track

Promoters for TBC1D23 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001481545 583 2801 HDGF PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 ZNF143

Genomic Location for TBC1D23 Gene

Chromosome:
3
Start:
100,260,817 bp from pter
End:
100,325,252 bp from pter
Size:
64,436 bases
Orientation:
Plus strand

Genomic View for TBC1D23 Gene

Genes around TBC1D23 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D23 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D23 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D23 Gene

Proteins for TBC1D23 Gene

  • Protein details for TBC1D23 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NUY8-TBC23_HUMAN
    Recommended name:
    TBC1 domain family member 23
    Protein Accession:
    Q9NUY8
    Secondary Accessions:
    • B9A6M5
    • Q8TCN8
    • Q8WUB7
    • Q96D90
    • Q9NV75

    Protein attributes for TBC1D23 Gene

    Size:
    699 amino acids
    Molecular mass:
    78322 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH10221.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH20955.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA91881.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for TBC1D23 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBC1D23 Gene

Post-translational modifications for TBC1D23 Gene

  • Ubiquitination at Lys 495
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TBC1D23 Gene

Domains & Families for TBC1D23 Gene

Protein Domains for TBC1D23 Gene

Suggested Antigen Peptide Sequences for TBC1D23 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NUY8

UniProtKB/Swiss-Prot:

TBC23_HUMAN :
  • Contains 1 Rab-GAP TBC domain.
Domain:
  • Contains 1 Rab-GAP TBC domain.
  • Contains 1 rhodanese domain.
genes like me logo Genes that share domains with TBC1D23: view

No data available for Gene Families for TBC1D23 Gene

Function for TBC1D23 Gene

Gene Ontology (GO) - Molecular Function for TBC1D23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with TBC1D23: view
genes like me logo Genes that share phenotypes with TBC1D23: view

Animal Model Products

miRNA for TBC1D23 Gene

miRTarBase miRNAs that target TBC1D23

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TBC1D23 Gene

Localization for TBC1D23 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBC1D23 Gene COMPARTMENTS Subcellular localization image for TBC1D23 gene
Compartment Confidence
golgi apparatus 3
cytosol 2
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
nucleus 1
plasma membrane 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for TBC1D23 Gene

Pathways & Interactions for TBC1D23 Gene

SuperPathways for TBC1D23 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TBC1D23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032680 regulation of tumor necrosis factor production IEA --
GO:0032755 positive regulation of interleukin-6 production IEA --
GO:0050727 regulation of inflammatory response IEA --
genes like me logo Genes that share ontologies with TBC1D23: view

No data available for Pathways by source and SIGNOR curated interactions for TBC1D23 Gene

Transcripts for TBC1D23 Gene

Unigene Clusters for TBC1D23 Gene

TBC1 domain family, member 23:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D23 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^
SP1: - - - - -
SP2: - - - - -
SP3: -
SP4: - - - -
SP5: - - - - - -
SP6: - - - -
SP7: - - -
SP8: - - - -
SP9: - - -
SP10:

ExUns: 16a · 16b ^ 17 ^ 18a · 18b ^ 19 ^ 20a · 20b
SP1: -
SP2: - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for TBC1D23 Gene

GeneLoc Exon Structure for
TBC1D23
ECgene alternative splicing isoforms for
TBC1D23

Expression for TBC1D23 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TBC1D23 Gene

Protein differential expression in normal tissues from HIPED for TBC1D23 Gene

This gene is overexpressed in Salivary gland (10.3) and Peripheral blood mononuclear cells (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TBC1D23 Gene



Protein tissue co-expression partners for TBC1D23 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TBC1D23 Gene:

TBC1D23

SOURCE GeneReport for Unigene cluster for TBC1D23 Gene:

Hs.477003
genes like me logo Genes that share expression patterns with TBC1D23: 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 mRNA Expression by UniProt/SwissProt for TBC1D23 Gene

Orthologs for TBC1D23 Gene

This gene was present in the common ancestor of animals.

Orthologs for TBC1D23 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBC1D23 34 35
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia TBC1D23 34 35
  • 94.71 (n)
cow
(Bos Taurus)
Mammalia TBC1D23 34 35
  • 93.13 (n)
oppossum
(Monodelphis domestica)
Mammalia TBC1D23 35
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbc1d23 34
  • 89.94 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TBC1D23 35
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbc1d23 34 16 35
  • 88.6 (n)
chicken
(Gallus gallus)
Aves TBC1D23 34 35
  • 82.03 (n)
lizard
(Anolis carolinensis)
Reptilia TBC1D23 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbc1d23 34
  • 74.92 (n)
Str.10381 34
zebrafish
(Danio rerio)
Actinopterygii tbc1d23 34 35
  • 72.12 (n)
zgc63756 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007749 34
  • 51.23 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4552 34 35
  • 50.25 (n)
worm
(Caenorhabditis elegans)
Secernentea tbc-1 34 35
  • 47.29 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 42 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4706 34
Species where no ortholog for TBC1D23 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)

Evolution for TBC1D23 Gene

ENSEMBL:
Gene Tree for TBC1D23 (if available)
TreeFam:
Gene Tree for TBC1D23 (if available)

Paralogs for TBC1D23 Gene

No data available for Paralogs for TBC1D23 Gene

Variants for TBC1D23 Gene

Sequence variations from dbSNP and Humsavar for TBC1D23 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1036770 -- 100,299,871(+) ACTAT(C/T)GCTTA intron-variant
rs1045228 -- 100,323,655(+) GGATG(C/T)TTTGG reference, missense
rs10511178 -- 100,322,859(+) TGATA(C/T)TTATG intron-variant
rs1060452 -- 100,321,493(+) AAAAA(C/T)ATGAA intron-variant
rs10634106 -- 100,313,010(+) CAAAA(-/AAT)AATAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TBC1D23 Gene

Variant ID Type Subtype PubMed ID
esv3597171 CNV loss 21293372
nsv1114410 CNV deletion 24896259
nsv473129 CNV novel sequence insertion 20440878

Variation tolerance for TBC1D23 Gene

Residual Variation Intolerance Score: 10.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.44; 28.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBC1D23 Gene

Human Gene Mutation Database (HGMD)
TBC1D23
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBC1D23

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBC1D23 Gene

Disorders for TBC1D23 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TBC1D23 Gene - From: DISEASES

Disorder Aliases PubMed IDs
pneumocystosis
  • pneumocystis carinii pneumonia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TBC1D23

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBC1D23
genes like me logo Genes that share disorders with TBC1D23: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TBC1D23 Gene

Publications for TBC1D23 Gene

  1. Spatiotemporal inhibition of innate immunity signaling by the Tbc1d23 RAB-GAP. (PMID: 22312129) De Arras L. … Alper S. (J. Immunol. 2012) 2 3 64
  2. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PMID: 19077034) Ishibashi K. … Fukuda M. (Genes Cells 2009) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3 64

Products for TBC1D23 Gene

Sources for TBC1D23 Gene

Content
Loading form....