UniProtKB - Q9NUY8 (TBC23_HUMAN)
TBC1 domain family member 23
TBC1D23
Functioni
Putative Rab GTPase-activating protein which plays a role in vesicular trafficking (PubMed:28823707).
Involved in endosome-to-Golgi trafficking. Acts as a bridging protein by binding simultaneously to golgins, including GOLGA1 and GOLGA4, located at the trans-Golgi, and to the WASH complex, located on endosome-derived vesicles (PubMed:29084197, PubMed:29426865).
Together with WDR11 complex facilitates the golgin-mediated capture of vesicles generated using AP-1 (PubMed:29426865).
Plays a role in brain development, including in cortical neuron positioning (By similarity).
May also be important for neurite outgrowth, possibly through its involvement in membrane trafficking and cargo delivery, 2 processes that are essential for axonal and dendritic growth (By similarity).
May act as a general inhibitor of innate immunity signaling, strongly inhibiting multiple TLR and dectin/CLEC7A-signaling pathways. Does not alter initial activation events, but instead affects maintenance of inflammatory gene expression several hours after bacterial lipopolysaccharide (LPS) challenge (By similarity).
By similarity3 PublicationsGO - Biological processi
- brain development Source: UniProtKB
- embryonic brain development Source: UniProtKB
- neuron projection development Source: UniProtKB
- retrograde transport, endosome to Golgi Source: UniProtKB
- vesicle-mediated transport Source: UniProtKB
- vesicle tethering to Golgi Source: UniProtKB
Keywordsi
Molecular function | Developmental protein |
Enzyme and pathway databases
PathwayCommonsi | Q9NUY8 |
SignaLinki | Q9NUY8 |
Names & Taxonomyi
Protein namesi | Recommended name: TBC1 domain family member 23Alternative name(s): HCV non-structural protein 4A-transactivated protein 1 |
Gene namesi | Name:TBC1D23 Synonyms:NS4ATP1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:25622, TBC1D23 |
MIMi | 617687, gene |
neXtProti | NX_Q9NUY8 |
VEuPathDBi | HostDB:ENSG00000036054 |
Subcellular locationi
Golgi apparatus
- trans-Golgi network 3 Publications
Other locations
- Cytoplasmic vesicle 1 Publication
Note: Localization to the trans-Golgi is regulated by ARL1 and ARL5B/ARL8. ARL1 increases Golgi localization, while ARL5B decreases it. Recruitment to the trans-Golgi network requires the presence of GOLGA1 and GOLGA4, but not that of FAM91A1 (PubMed:29084197, PubMed:28823706). Recruited on AP-1-derived vesicles by WDR11 complex (PubMed:29426865).3 Publications
Cytosol
- cytosol Source: GOC
Golgi apparatus
- Golgi apparatus Source: HPA
- trans-Golgi network Source: UniProtKB
Other locations
- cytoplasmic vesicle Source: UniProtKB
Keywords - Cellular componenti
Cytoplasmic vesicle, Golgi apparatusPathology & Biotechi
Involvement in diseasei
Pontocerebellar hypoplasia 11 (PCH11)2 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080040 | 518 | R → Q in PCH11; unknown pathological significance. 1 Publication | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 55773 |
MalaCardsi | TBC1D23 |
MIMi | 617695, phenotype |
OpenTargetsi | ENSG00000036054 |
PharmGKBi | PA142670829 |
Miscellaneous databases
Pharosi | Q9NUY8, Tbio |
Genetic variation databases
BioMutai | TBC1D23 |
DMDMi | 300669675 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000287497 | 1 – 699 | TBC1 domain family member 23Add BLAST | 699 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 300 | PhosphoserineCombined sources | 1 | |
Modified residuei | 469 | PhosphoserineBy similarity | 1 | |
Modified residuei | 474 | PhosphoserineCombined sources | 1 | |
Modified residuei | 507 | PhosphoserineCombined sources | 1 | |
Modified residuei | 514 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 520 | PhosphoserineCombined sources | 1 | |
Modified residuei | 571 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9NUY8 |
jPOSTi | Q9NUY8 |
MassIVEi | Q9NUY8 |
MaxQBi | Q9NUY8 |
PaxDbi | Q9NUY8 |
PeptideAtlasi | Q9NUY8 |
PRIDEi | Q9NUY8 |
ProteomicsDBi | 82728 [Q9NUY8-1] 82729 [Q9NUY8-2] |
PTM databases
iPTMneti | Q9NUY8 |
PhosphoSitePlusi | Q9NUY8 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000036054, Expressed in quadriceps femoris and 217 other tissues |
ExpressionAtlasi | Q9NUY8, baseline and differential |
Genevisiblei | Q9NUY8, HS |
Organism-specific databases
HPAi | ENSG00000036054, Low tissue specificity |
Interactioni
Subunit structurei
Directly interacts with GOLGA1 and GOLGA4 (PubMed:29084197).
Interacts with FAM91A1, C17ORF75 and WDR11; the interaction recruits TBC1D23 to AP-1-derived vesicles (PubMed:29084197, PubMed:29426865). Directly interacts with WASHC1 and WASHC2A/FAM21A (PubMed:29084197).
Interacts with FKBP15 (PubMed:29084197).
2 PublicationsBinary interactionsi
Q9NUY8
Isoform 2 [Q9NUY8-2]
Protein-protein interaction databases
BioGRIDi | 120889, 43 interactors |
IntActi | Q9NUY8, 20 interactors |
MINTi | Q9NUY8 |
STRINGi | 9606.ENSP00000377700 |
Miscellaneous databases
RNActi | Q9NUY8, protein |
Structurei
Secondary structure
3D structure databases
AlphaFoldDBi | Q9NUY8 |
SMRi | Q9NUY8 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 44 – 225 | Rab-GAP TBCPROSITE-ProRule annotationAdd BLAST | 182 | |
Domaini | 334 – 446 | RhodanesePROSITE-ProRule annotationAdd BLAST | 113 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 459 – 483 | DisorderedSequence analysisAdd BLAST | 25 | |
Regioni | 514 – 699 | May mediate the interaction with WASHC1By similarityAdd BLAST | 186 | |
Regioni | 514 – 573 | May mediate the interaction with C17orf75, FAM91A1 and WDR11By similarityAdd BLAST | 60 | |
Regioni | 574 – 699 | May mediate the interaction with FKBP15 and WASHC2; required for endosome to Golgi traffickingBy similarityAdd BLAST | 126 |
Phylogenomic databases
eggNOGi | KOG3636, Eukaryota |
GeneTreei | ENSGT00390000000191 |
HOGENOMi | CLU_026555_0_0_1 |
InParanoidi | Q9NUY8 |
OMAi | YNAGHLP |
OrthoDBi | 429640at2759 |
PhylomeDBi | Q9NUY8 |
TreeFami | TF105892 |
Family and domain databases
Gene3Di | 3.40.250.10, 1 hit |
InterProi | View protein in InterPro IPR000195, Rab-GTPase-TBC_dom IPR035969, Rab-GTPase_TBC_sf IPR001763, Rhodanese-like_dom IPR036873, Rhodanese-like_dom_sf IPR039755, TBC1D23 IPR045799, TBC1D23_C |
PANTHERi | PTHR13297, PTHR13297, 1 hit |
Pfami | View protein in Pfam PF00566, RabGAP-TBC, 1 hit PF00581, Rhodanese, 1 hit PF19430, TBC1D23_C, 1 hit |
SMARTi | View protein in SMART SM00164, TBC, 1 hit |
SUPFAMi | SSF47923, SSF47923, 2 hits SSF52821, SSF52821, 1 hit |
PROSITEi | View protein in PROSITE PS50206, RHODANESE_3, 1 hit PS50086, TBC_RABGAP, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAEGEDVPPL PTSSGDGWEK DLEEALEAGG CDLETLRNII QGRPLPADLR
60 70 80 90 100
AKVWKIALNV AGKGDSLASW DGILDLPEQN TIHKDCLQFI DQLSVPEEKA
110 120 130 140 150
AELLLDIESV ITFYCKSRNI KYSTSLSWIH LLKPLVHLQL PRSDLYNCFY
160 170 180 190 200
AIMNKYIPRD CSQKGRPFHL FRLLIQYHEP ELCSYLDTKK ITPDSYALNW
210 220 230 240 250
LGSLFACYCS TEVTQAIWDG YLQQADPFFI YFLMLIILVN AKEVILTQES
260 270 280 290 300
DSKEEVIKFL ENTPSSLNIE DIEDLFSLAQ YYCSKTPASF RKDNHHLFGS
310 320 330 340 350
TLLGIKDDDA DLSQALCLAI SVSEILQANQ LQGEGVRFFV VDCRPAEQYN
360 370 380 390 400
AGHLSTAFHL DSDLMLQNPS EFAQSVKSLL EAQKQSIESG SIAGGEHLCF
410 420 430 440 450
MGSGREEEDM YMNMVLAHFL QKNKEYVSIA SGGFMALQQH LADINVDGPE
460 470 480 490 500
NGYGHWIAST SGSRSSINSV DGESPNGSSD RGMKSLVNKM TVALKTKSVN
510 520 530 540 550
VREKVISFIE NTSTPVDRMS FNLPWPDRSC TERHVSSSDR VGKPYRGVKP
560 570 580 590 600
VFSIGDEEEY DTDEIDSSSM SDDDRKEVVN IQTWINKPDV KHHFPCKEVK
610 620 630 640 650
ESGHMFPSHL LVTATHMYCL REIVSRKGLA YIQSRQALNS VVKITSKKKH
660 670 680 690
PELITFKYGN SSASGIEILA IERYLIPNAG DATKAIKQQI MKVLDALES
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE9PGE5 | E9PGE5_HUMAN | TBC1 domain family member 23 | TBC1D23 | 562 | Annotation score: | ||
C9JAM5 | C9JAM5_HUMAN | TBC1 domain family member 23 | TBC1D23 | 189 | Annotation score: | ||
C9IZ32 | C9IZ32_HUMAN | TBC1 domain family member 23 | TBC1D23 | 171 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 66 | S → C in BAH16653 (PubMed:19077034).Curated | 1 | |
Sequence conflicti | 66 | S → C in BAA91973 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 170 | L → P in BAH16653 (PubMed:19077034).Curated | 1 | |
Sequence conflicti | 170 | L → P in BAA91973 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 360 | L → S in BAA91973 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080040 | 518 | R → Q in PCH11; unknown pathological significance. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_025519 | 518 – 532 | Missing in isoform 2. 3 PublicationsAdd BLAST | 15 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB449910 mRNA Translation: BAH16653.1 AK001750 mRNA Translation: BAA91881.1 Different initiation. AK001908 mRNA Translation: BAA91973.1 AC078783 Genomic DNA No translation available. AC093003 Genomic DNA No translation available. BC010221 mRNA Translation: AAH10221.1 Different initiation. BC020955 mRNA Translation: AAH20955.1 Different initiation. AL713684 mRNA Translation: CAD28488.1 AY740521 mRNA Translation: AAW66944.1 |
CCDSi | CCDS2936.1 [Q9NUY8-2] CCDS56265.1 [Q9NUY8-1] |
RefSeqi | NP_001186127.1, NM_001199198.2 [Q9NUY8-1] NP_060779.2, NM_018309.4 [Q9NUY8-2] |
Genome annotation databases
Ensembli | ENST00000344949.9; ENSP00000340693.5; ENSG00000036054.13 [Q9NUY8-2] ENST00000394144.9; ENSP00000377700.4; ENSG00000036054.13 |
GeneIDi | 55773 |
KEGGi | hsa:55773 |
MANE-Selecti | ENST00000394144.9; ENSP00000377700.4; NM_001199198.3; NP_001186127.1 |
UCSCi | uc003dts.5, human [Q9NUY8-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB449910 mRNA Translation: BAH16653.1 AK001750 mRNA Translation: BAA91881.1 Different initiation. AK001908 mRNA Translation: BAA91973.1 AC078783 Genomic DNA No translation available. AC093003 Genomic DNA No translation available. BC010221 mRNA Translation: AAH10221.1 Different initiation. BC020955 mRNA Translation: AAH20955.1 Different initiation. AL713684 mRNA Translation: CAD28488.1 AY740521 mRNA Translation: AAW66944.1 |
CCDSi | CCDS2936.1 [Q9NUY8-2] CCDS56265.1 [Q9NUY8-1] |
RefSeqi | NP_001186127.1, NM_001199198.2 [Q9NUY8-1] NP_060779.2, NM_018309.4 [Q9NUY8-2] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6JL7 | X-ray | 2.50 | A | 17-460 | [»] | |
6JM5 | X-ray | 1.60 | A/B | 577-699 | [»] | |
AlphaFoldDBi | Q9NUY8 | |||||
SMRi | Q9NUY8 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 120889, 43 interactors |
IntActi | Q9NUY8, 20 interactors |
MINTi | Q9NUY8 |
STRINGi | 9606.ENSP00000377700 |
PTM databases
iPTMneti | Q9NUY8 |
PhosphoSitePlusi | Q9NUY8 |
Genetic variation databases
BioMutai | TBC1D23 |
DMDMi | 300669675 |
Proteomic databases
EPDi | Q9NUY8 |
jPOSTi | Q9NUY8 |
MassIVEi | Q9NUY8 |
MaxQBi | Q9NUY8 |
PaxDbi | Q9NUY8 |
PeptideAtlasi | Q9NUY8 |
PRIDEi | Q9NUY8 |
ProteomicsDBi | 82728 [Q9NUY8-1] 82729 [Q9NUY8-2] |
Protocols and materials databases
Antibodypediai | 46507, 69 antibodies from 22 providers |
DNASUi | 55773 |
Genome annotation databases
Ensembli | ENST00000344949.9; ENSP00000340693.5; ENSG00000036054.13 [Q9NUY8-2] ENST00000394144.9; ENSP00000377700.4; ENSG00000036054.13 |
GeneIDi | 55773 |
KEGGi | hsa:55773 |
MANE-Selecti | ENST00000394144.9; ENSP00000377700.4; NM_001199198.3; NP_001186127.1 |
UCSCi | uc003dts.5, human [Q9NUY8-1] |
Organism-specific databases
CTDi | 55773 |
DisGeNETi | 55773 |
GeneCardsi | TBC1D23 |
HGNCi | HGNC:25622, TBC1D23 |
HPAi | ENSG00000036054, Low tissue specificity |
MalaCardsi | TBC1D23 |
MIMi | 617687, gene 617695, phenotype |
neXtProti | NX_Q9NUY8 |
OpenTargetsi | ENSG00000036054 |
PharmGKBi | PA142670829 |
VEuPathDBi | HostDB:ENSG00000036054 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3636, Eukaryota |
GeneTreei | ENSGT00390000000191 |
HOGENOMi | CLU_026555_0_0_1 |
InParanoidi | Q9NUY8 |
OMAi | YNAGHLP |
OrthoDBi | 429640at2759 |
PhylomeDBi | Q9NUY8 |
TreeFami | TF105892 |
Enzyme and pathway databases
PathwayCommonsi | Q9NUY8 |
SignaLinki | Q9NUY8 |
Miscellaneous databases
BioGRID-ORCSi | 55773, 17 hits in 1078 CRISPR screens |
ChiTaRSi | TBC1D23, human |
GenomeRNAii | 55773 |
Pharosi | Q9NUY8, Tbio |
PROi | PR:Q9NUY8 |
RNActi | Q9NUY8, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000036054, Expressed in quadriceps femoris and 217 other tissues |
ExpressionAtlasi | Q9NUY8, baseline and differential |
Genevisiblei | Q9NUY8, HS |
Family and domain databases
Gene3Di | 3.40.250.10, 1 hit |
InterProi | View protein in InterPro IPR000195, Rab-GTPase-TBC_dom IPR035969, Rab-GTPase_TBC_sf IPR001763, Rhodanese-like_dom IPR036873, Rhodanese-like_dom_sf IPR039755, TBC1D23 IPR045799, TBC1D23_C |
PANTHERi | PTHR13297, PTHR13297, 1 hit |
Pfami | View protein in Pfam PF00566, RabGAP-TBC, 1 hit PF00581, Rhodanese, 1 hit PF19430, TBC1D23_C, 1 hit |
SMARTi | View protein in SMART SM00164, TBC, 1 hit |
SUPFAMi | SSF47923, SSF47923, 2 hits SSF52821, SSF52821, 1 hit |
PROSITEi | View protein in PROSITE PS50206, RHODANESE_3, 1 hit PS50086, TBC_RABGAP, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | TBC23_HUMAN | |
Accessioni | Q9NUY8Primary (citable) accession number: Q9NUY8 Secondary accession number(s): B9A6M5 Q9NV75 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 15, 2007 |
Last sequence update: | July 13, 2010 | |
Last modified: | May 25, 2022 | |
This is version 154 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references