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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TBC1D23 Gene

protein-coding   GIFtS: 45
GCID: GC03P099979

TBC1 Domain Family, Member 23

  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
TBC1 Domain Family, Member 231 2
NS4ATP12 3
HCV Non-Structural Protein 4A-Transactivated Protein 12 3
HCV Nonstructural Protein 4A-Transactivated Protein 12
TBC1 Domain Family Member 232

External Ids:    HGNC: 256221   Entrez Gene: 557732   Ensembl: ENSG000000360547   UniProtKB: Q9NUY83   

Export aliases for TBC1D23 gene to outside databases

Previous GC identifers: GC03P101463 GC03P097347


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for TBC1D23 Gene: 
TBC1D23 (TBC1 domain family, member 23) is a protein-coding gene. Diseases associated with TBC1D23 include pneumocystosis. GO annotations related to this gene include Rab GTPase activator activity.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.2  NT_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TBC1D23 gene promoter:
         ISGF-3   ATF-2   IRF-1   Meis-1b   FAC1   c-Myb   Cart-1   c-Jun   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTBC1D23 promoter sequence
   Search SABiosciences Chromatin IP Primers for TBC1D23

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBC1D23


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q12.2   Ensembl cytogenetic band:  3q12.1   HGNC cytogenetic band: 3q12.2

TBC1D23 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBC1D23 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P099979:  view genomic region     (about GC identifiers)

Start:
99,979,686 bp from pter      End:
100,044,095 bp from pter
Size:
64,410 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TBC23_HUMAN, Q9NUY8 (See protein sequence)
Recommended Name: TBC1 domain family member 23  
Size: 699 amino acids; 78322 Da
Sequence caution: Sequence=AAH10221.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAH20955.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAA91881.1;
Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q8TCN8 Q8WUB7 Q96D90 Q9NV75
Alternative splicing: 2 isoforms:  Q9NUY8-1   Q9NUY8-2   

Explore the universe of human proteins at neXtProt for TBC1D23: NX_Q9NUY8

Explore proteomics data for TBC1D23 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NUY8

  • TBC1D23 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TBC1D23 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001186127.1  NP_060779.2  

    ENSEMBL proteins: 
     ENSP00000417487   ENSP00000340693   ENSP00000377700   ENSP00000418714   ENSP00000418059  

    Human Recombinant Protein Products for TBC1D23: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TBC1D23 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----

    TBC1D23 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR001763 Rhodanese-like_dom
     IPR000195 Rab-GTPase-TBC_dom

    Graphical View of Domain Structure for InterPro Entry Q9NUY8

    ProtoNet protein and cluster: Q9NUY8

    1 Blocks protein domain: IPB001763 Rhodanese-like

    UniProtKB/Swiss-Prot: TBC23_HUMAN, Q9NUY8
    Similarity: Contains 1 Rab-GAP TBC domain
    Similarity: Contains 1 rhodanese domain


    TBC1D23 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005097Rab GTPase activator activity IEA--
         
    TBC1D23 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Tbc1d23):
     homeostasis/metabolism  immune system 

    TBC1D23 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for TBC1D23 
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    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TBC1D23

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5/6 Interacting proteins for TBC1D23 (Q9NUY83 ENSP000003406934) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KBTBD7Q8WVZ93I2D: score=1 
    PRKAB2O437413I2D: score=1 
    STK11Q158313I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    C12orf45ENSP000002807494STRING: ENSP00000280749
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0032313regulation of Rab GTPase activity ----
    GO:0032680regulation of tumor necrosis factor production IEA--
    GO:0032755positive regulation of interleukin-6 production IEA--
    GO:0050727regulation of inflammatory response IEA--

    TBC1D23 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TBC1D23 (TBC23)

    Search CenterWatch for drugs/clinical trials and news about TBC1D23 / TBC23

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TBC1D23 gene (2 alternative transcripts): 
    NM_001199198.2  NM_018309.4  

    Unigene Cluster for TBC1D23:

    TBC1 domain family, member 23
    Hs.477003  [show with all ESTs]
    Unigene Representative Sequence: NM_001199198
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000485687 ENST00000344949(uc003dts.3) ENST00000394144(uc003dtt.3)
    ENST00000486274 ENST00000471098 ENST00000475134 ENST00000484231 ENST00000496167
    ENST00000471273(uc003dtu.3)
    miRNA
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    hsa-miR-374b hsa-miR-802 hsa-miR-4276 hsa-miR-374a
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    Inhib. RNA
    Products:
         
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TBC1D23

    Additional mRNA sequence: 

    AB449910.1 AK001750.1 AK001908.1 AK092926.1 AL713684.1 AY740521.1 BC010221.1 BC020955.1 
    BX648032.1 

    14 DOTS entries:

    DT.446666  DT.100814822  DT.100814824  DT.95319818  DT.95270780  DT.120900654  DT.120900690  DT.100733077 
    DT.120900684  DT.40197174  DT.95270787  DT.95358374  DT.120900678  DT.40108879 

    24/177 AceView cDNA sequences (see all 177):

    BU634334 AI802355 BG527759 AI040209 BG621697 AW192122 AW302592 AA846312 
    CF552493 AI248888 BC020955 AI383134 AA446792 BF059314 H88213 BX494567 
    AI248887 BP333830 AI635361 AA913564 AI285791 AI339021 AI681408 AA284448 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D23 (see all 10)    About this scheme

    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:                    -     -     -     -     -                       -                                                                                       

    ExUns: 16a · 16b ^ 17 ^ 18a · 18b ^ 19 ^ 20a · 20b
    SP1:                    -                           
    SP2:              -     -                           
    SP3:                                                
    SP4:                                                
    SP5:                                                


    ECgene alternative splicing isoforms for TBC1D23

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TBC1D23 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGACATTTTT
    TBC1D23 Expression
    About this image


    See TBC1D23 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TBC1D23

    SOURCE GeneReport for Unigene cluster: Hs.477003
        SABiosciences Custom PCR Arrays for TBC1D23
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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TBC1D23 gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tbc1d231 , 5 TBC1 domain family, member 231, 5 88.6(n)1
    94.44(a)1
      16 (34.22 cM)5
    675811  NM_026254.21  NP_080530.21 
     571688665 
    chicken
    (Gallus gallus)
    Aves TBC1D231 TBC1 domain family, member 23 82.03(n)
    89.96(a)
      418383  NM_001030784.1  NP_001025955.1 
    lizard
    (Anolis carolinensis)
    Reptilia TBC1D236
    TBC1 domain family, member 23
    85(a)
    1 ↔ 1
    3(174224153-174263274)
    African clawed frog
    (Xenopus laevis)
    Amphibia 480140362   -- 79.54(n)    48014036 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc637562 hypothetical protein MGC63756 75.56(n)   393459  BC055235.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG45521 CG4552 50.73(n)
    47.07(a)
      33289  NM_134725.1  NP_608569.1 
    worm
    (Caenorhabditis elegans)
    Secernentea tbc-11 Protein TBC-1 47.12(n)
    33.88(a)
      181592  NM_078084.4  NP_510485.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1289 SNPs in TBC1D23 are shown (see all 1289)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1398214791,2
    --99977837(+) AGATTC/GTGTCT 2 -- us2k10--------
    rs345572081,2
    C--99977867(+) AAAAA-/A/AA  
            
    TCCGC
    2 -- us2k12NA 4
    rs1145037251,2
    F--99977870(+) AAATCC/TGCTAG 2 -- us2k12Minor allele frequency- T:0.03WA NA 238
    rs98646531,2
    C,F,H--99977873(+) TCCGCC/TAGAAG 2 -- us2k116Minor allele frequency- T:0.01NS EA NA WA CSA 1056
    rs1454232141,2
    --99977913(+) TCTTGC/TCCCCA 2 -- us2k10--------
    rs16148611,2
    C,H--99978149(-) GACTTC/ATATGT 2 -- us2k14Minor allele frequency- A:0.00NS EA 416
    rs1487960921,2
    --99978194(+) CTGTTC/TAAAAA 2 -- us2k10--------
    rs780340941,2
    --99978285(+) AATCAC/TAATTG 2 -- us2k10--------
    rs773391291,2
    F--99978543(+) GAGATC/ACGGGC 2 -- us2k11Minor allele frequency- A:0.06WA 118
    rs173356141,2
    C,F,H--99978562(+) TGGGTG/CCAGTA 2 -- us2k128Minor allele frequency- C:0.20NA NS EA WA 2904

    HapMap Linkage Disequilibrium report for TBC1D23 (99979686 - 100044095 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for TBC1D23: --

    Human Gene Mutation Database (HGMD): TBC1D23
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing TBC1D23
    DNA2.0 Custom Variant and Variant Library Synthesis for TBC1D23

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for TBC1D23:    About MalaCards
    pneumocystosis    


    TBC1D23 for disorders           About GeneDecksing


    Export disorders for TBC1D23 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TBC1D23 gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with TBC1D23)
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    1. Spatiotemporal inhibition of innate immunity signaling by the Tbc1d23 RAB-GAP. (PubMed id 22312129)1, 3 De Arras L....Alper S. (2012)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)
    4. Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. (PubMed id 22589738)1 Fox C.S....Borecki I.B. (2012)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
    7. A data set of human endogenous protein ubiquitination sites. (PubMed id 20972266)1 Shi Y....Qin J. (2011)
    8. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    9. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    10. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55773 HGNC: 25622 AceView: FLJ11046 Ensembl:ENSG00000036054 euGenes: HUgn55773
    ECgene: TBC1D23 H-InvDB: TBC1D23

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TBC1D23 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TBC1D23 gene:
    Search GeneIP for patents involving TBC1D23

    GeneCards and IP:
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