Conserved Protein Domain Family
TBC1D23_C

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pfam19430: TBC1D23_C (This model is not part of the current CDD release)
TBC1 domain family member 23 C-terminal
TBC1 domain family member 23 (TBC1D23) belongs to a family of TBC domain-containing Rab-specific GTPase-activating proteins, which plays a role in endosome-to-Golgi trafficking. It acts as a bridging factor in which the TBC domain binds to Golgi adaptor proteins golgin-97 and golgin-245 and its C-terminal to FAM21 subunit of the WASH complex, which regulates multiple endosomal trafficking routes. TBC1D23 is important for normal brain development, especially in axonal and dendritic growth. This entry represents the C-terminal domain that contains residues for specific FAM21 binding and for the cargo of endosome-derived carriers. It adopts a fold similar to the Pleckstrin homology (PH) domain. Mutations in this protein, and particularly in this domain, are linked with Pontocerebellar hypoplasia (PCH), suggesting that the TBC1D23 C-terminal domain is required for neuronal growth and brain development.
Statistics
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PSSM-Id: 523672
Aligned: 3 rows
Threshold Bit Score: 397.99
Created: 20-Feb-2025
Updated: 28-Apr-2025
Structure
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Aligned Rows:
PubMed ReferencesClick to see Conserved Features Help

Sequence Alignment
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Format: Row Display: Color Bits: Type Selection:
XP_012044062 299 NGYGHWIASTSGSRSSINSsVDGESSNGSND-RGMKSLVNKMTVALKTKSVNVREKVISFIENTSTPVDRMSFNLPWPDR 377 sheep
CAD28488     145 NGYGHWIASTSGSRSSINS-VDGESPNGSSD-RGMKSLVNKMTVALKTKSVNVREKVISFIENTSTPVDRMSFNLPWPDR 222 human
XP_026160479 444 SSYVHWIVSTSGSHSSLSS-AEGESLSSPGDsKGVKSLVNKMTFALKSKSVNVKEKMISFIENTSTPVDR---------- 512 zig-zag eel
XP_012044062 378 TCTERHVSSSDRVGKPYRGVKPVFSIGDEEEYDTDEIDSSSMSDDDRKEVVNIQTWINKPDVKHHFPCKEVKESGHMFPS 457 sheep
CAD28488     223 SCTERHVSSSDRVGKPYRGVKPVFSIGDEEEYDTDEIDSSSMSDDDRKEVVNIQTWINKPDVKHHFPCKEVKESGHMFPS 302 human
XP_026160479 513 -----HVSSSDRVGKPYRGVKPVFSIGDEEEYDTDEIDSSSMSDDDRKEIVNIQTWINKPDVKHHILCNEVKETGHMFPS 587 zig-zag eel
XP_012044062 458 HLLVTATHMYCLREILSRKGLAYIQSRQALNSVVKITSKKKHPELITFKYGNSSASGIEILAIERYLI 525 sheep
CAD28488     303 HLLVTATHMYCLREIVSRKGLAYIQSRQALNSVVKITSKKKHPELITFKYGNSSASGIEILAIERYLI 370 human
XP_026160479 588 HLLITATHMYCLREIASRKGFAYIQSRQALNSVVKITSKKKHPELITFKFGSNNSAGVEVSAVERYLI 655 zig-zag eel
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