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UniProtKB - Q9NUY8 (TBC23_HUMAN)

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Protein

TBC1 domain family member 23

Gene

TBC1D23

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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). 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 similarity1 Publication

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionDevelopmental protein

Names & Taxonomyi

Protein namesi
Recommended name:
TBC1 domain family member 23
Alternative name(s):
HCV non-structural protein 4A-transactivated protein 1
Gene namesi
Name:TBC1D23
Synonyms:NS4ATP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000036054.12
HGNCiHGNC:25622 TBC1D23
MIMi617687 gene
neXtProtiNX_Q9NUY8

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Golgi apparatus

Pathology & Biotechi

Involvement in diseasei

Pontocerebellar hypoplasia 11 (PCH11)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA non-degenerative form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH11 features include severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia. PCH11 inheritance is autosomal recessive.
See also OMIM:617695
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080040518R → Q in PCH11; unknown pathological significance. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

MalaCardsiTBC1D23
MIMi617695 phenotype
OpenTargetsiENSG00000036054
PharmGKBiPA142670829

Polymorphism and mutation databases

BioMutaiTBC1D23
DMDMi300669675

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002874971 – 699TBC1 domain family member 23Add BLAST699

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei300PhosphoserineCombined sources1
Modified residuei469PhosphoserineBy similarity1
Modified residuei474PhosphoserineCombined sources1
Modified residuei507PhosphoserineCombined sources1
Modified residuei514PhosphothreonineCombined sources1
Modified residuei520PhosphoserineCombined sources1
Modified residuei571PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9NUY8
MaxQBiQ9NUY8
PaxDbiQ9NUY8
PeptideAtlasiQ9NUY8
PRIDEiQ9NUY8
ProteomicsDBi82728
82729 [Q9NUY8-2]

PTM databases

iPTMnetiQ9NUY8
PhosphoSitePlusiQ9NUY8

Expressioni

Tissue specificityi

Isoform 1: Widely expressed, including in fetal adult brain (corpus callosum, pons, cerebellum), spinal cord, heart, skeletal muscle, thymus and bone marrow, and at lower levels in spleen. Hardly detected in liver, kidney, colon and testis. Isoform 2: Expressed at high levels in liver, kidney, colon and testis. Hardly detected in tissues expressing high levels of isoform 1. Expressed at low levels in spleen.1 Publication

Gene expression databases

BgeeiENSG00000036054
CleanExiHS_TBC1D23
ExpressionAtlasiQ9NUY8 baseline and differential
GenevisibleiQ9NUY8 HS

Organism-specific databases

HPAiHPA038151
HPA038152

Interactioni

Subunit structurei

Directly interacts with GOLGA1 and GOLGA4 (PubMed:29084197). Interacts with FAM91A1, C17ORF75 and WDR11 (PubMed:29084197). Directly interacts with WASHC1 and WASHC2A/FAM21A (PubMed:29084197). Interacts with FKBP15 (PubMed:29084197).1 Publication

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi120889, 24 interactors
IntActiQ9NUY8, 12 interactors
MINTiQ9NUY8
STRINGi9606.ENSP00000377700

Structurei

3D structure databases

ProteinModelPortaliQ9NUY8
SMRiQ9NUY8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini44 – 225Rab-GAP TBCPROSITE-ProRule annotationAdd BLAST182
Domaini334 – 446RhodanesePROSITE-ProRule annotationAdd BLAST113

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni514 – 699May mediate the interaction with WASHC1By similarityAdd BLAST186
Regioni514 – 573May mediate the interaction with C17orf75, FAM91A1 and WDR11By similarityAdd BLAST60
Regioni574 – 699May mediate the interaction with FKBP15 and WASHC2; required for endosome to Golgi trafffickingBy similarityAdd BLAST126

Phylogenomic databases

eggNOGiKOG3636 Eukaryota
ENOG410Z3CX LUCA
GeneTreeiENSGT00390000000191
HOGENOMiHOG000043921
HOVERGENiHBG055636
InParanoidiQ9NUY8
KOiK22555
OMAiCLVCQQH
OrthoDBiEOG091G02UC
PhylomeDBiQ9NUY8
TreeFamiTF105892

Family and domain databases

Gene3Di3.40.250.10, 1 hit
InterProiView protein in InterPro
IPR000195 Rab-GTPase-TBC_dom
IPR035969 Rab-GTPase_TBC_sf
IPR001763 Rhodanese-like_dom
IPR036873 Rhodanese-like_dom_sf
PfamiView protein in Pfam
PF00566 RabGAP-TBC, 1 hit
PF00581 Rhodanese, 1 hit
SMARTiView protein in SMART
SM00164 TBC, 1 hit
SUPFAMiSSF47923 SSF47923, 2 hits
SSF52821 SSF52821, 1 hit
PROSITEiView protein in PROSITE
PS50206 RHODANESE_3, 1 hit
PS50086 TBC_RABGAP, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NUY8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:699
Mass (Da):78,322
Last modified:July 13, 2010 - v3
Checksum:iC0AEB80E044B0F98
GO
Isoform 2 (identifier: Q9NUY8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     518-532: Missing.

Show »
Length:684
Mass (Da):76,501
Checksum:i06960AE231A64926
GO

Sequence cautioni

The sequence AAH10221 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAH20955 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA91881 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti66S → C in BAH16653 (PubMed:19077034).Curated1
Sequence conflicti66S → C in BAA91973 (PubMed:14702039).Curated1
Sequence conflicti170L → P in BAH16653 (PubMed:19077034).Curated1
Sequence conflicti170L → P in BAA91973 (PubMed:14702039).Curated1
Sequence conflicti360L → S in BAA91973 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080040518R → Q in PCH11; unknown pathological significance. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_025519518 – 532Missing in isoform 2. 3 PublicationsAdd BLAST15

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
CCDSiCCDS2936.1 [Q9NUY8-2]
CCDS56265.1 [Q9NUY8-1]
RefSeqiNP_001186127.1, NM_001199198.2 [Q9NUY8-1]
NP_060779.2, NM_018309.4 [Q9NUY8-2]
UniGeneiHs.477003

Genome annotation databases

EnsembliENST00000344949; ENSP00000340693; ENSG00000036054 [Q9NUY8-2]
ENST00000394144; ENSP00000377700; ENSG00000036054 [Q9NUY8-1]
GeneIDi55773
KEGGihsa:55773
UCSCiuc003dts.5 human [Q9NUY8-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiTBC23_HUMAN
AccessioniPrimary (citable) accession number: Q9NUY8
Secondary accession number(s): B9A6M5
, Q8TCN8, Q8WUB7, Q96D90, Q9NV75
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: July 13, 2010
Last modified: July 18, 2018
This is version 129 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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