Type |
Details |
Score |
Publication |
First Author: |
De M |
Year: |
2017 |
Journal: |
J Cell Biol |
Title: |
The Vps13p-Cdc31p complex is directly required for TGN late endosome transport and TGN homotypic fusion. |
Volume: |
216 |
Issue: |
2 |
Pages: |
425-439 |
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•
•
•
•
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Protein Domain |
Type: |
Domain |
Description: |
This entry represents the VPS13 adaptor binding (VAB) domain, previously known as SHR-BD, found in VPS13 []. These proteins interact with membrane-specific adaptor proteins such as Ypt35, Spo71 and the mitochondrial membrane protein Mcp1, to be recruited to different membranes. This domain interacts with Ypt35 which recruits VPS13 to endosomal and vacuolar membranes, and with Mcp1 to target VPS13 at mitochondria []. In plants, this domain is found to be the region which interacts with SHR or the SHORT-ROOT transcription factor, a regulator of root-growth and asymmetric cell division that separates ground tissue into endodermis and cortex. The plant protein containing the SHR-BD is named SHRUBBY or SHBY () [].This domain likely adopts an elongated structure consisting of β-sheets. It has been described as a β-propeller/WD40-like structure [, ], however, based on structural models, it does not seem to have that 3D arrangement.VPS13 proteins have been implicated in processes including vesicle fusion, autophagy, and actin regulation. They bind phospholipids and act as channels that mediate the transfer of lipids between membranes at organelle contact sites [, , ]. It has been proposed that members of this entry have the capacity to bind and likely transfer tens of glycerolipids at once. Yeast VPS13 acts at multiple cellular sites, namely the interface between mitochondria and the vacuole, on endosomes, on the nuclear-vacuole junction and the vacuole, depending on the carbon source and metabolic state. Most evidence showed that mammalian VPS13A, VPS13C and VPS13D localize at contacts between the ER and other organelles, i.e. VPS13A and VPS13D bridge the ER to mitochondria, VPS13C bridges the ER to late endosomes and lysosomes and VPS13B may localize to endosome-endosome contacts [, , ]. Mutations in human VPS13 proteins (VPS13A-D) cause different diseases such as Chorea-acanthocytosis, Cohen syndrome, Parkinson's disease, and spastic ataxia, respectively which suggests they have different functions [, ]. |
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Publication |
First Author: |
Zhu X |
Year: |
2014 |
Journal: |
Am J Pathol |
Title: |
Giant axon formation in mice lacking Kell, XK, or Kell and XK: animal models of McLeod neuroacanthocytosis syndrome. |
Volume: |
184 |
Issue: |
3 |
Pages: |
800-7 |
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•
•
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•
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1914
|
Fragment?: |
false |
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•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
2075
|
Fragment?: |
false |
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•
•
•
•
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Publication |
First Author: |
Rivera A |
Year: |
2013 |
Journal: |
Blood Cells Mol Dis |
Title: |
Ablation of the Kell/Xk complex alters erythrocyte divalent cation homeostasis. |
Volume: |
50 |
Issue: |
2 |
Pages: |
80-5 |
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•
•
•
•
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Publication |
First Author: |
Uwechue IC |
Year: |
1996 |
Journal: |
Genomics |
Title: |
The mouse X-linked developmental mutant, tattered, lies between DXMit55 and Xkh and is associated with hyperkeratinization. |
Volume: |
37 |
Issue: |
2 |
Pages: |
238-41 |
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•
•
•
•
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Publication |
First Author: |
Blair HJ |
Year: |
1995 |
Journal: |
Genomics |
Title: |
High-resolution comparative mapping of the proximal region of the mouse X chromosome. |
Volume: |
28 |
Issue: |
2 |
Pages: |
305-10 |
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•
•
•
•
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Publication |
First Author: |
Hung CH |
Year: |
2021 |
Journal: |
Int J Mol Sci |
Title: |
A Positive Regulatory Feedback Loop between EKLF/KLF1 and TAL1/SCL Sustaining the Erythropoiesis. |
Volume: |
22 |
Issue: |
15 |
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•
•
•
•
•
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Publication |
First Author: |
Means GD |
Year: |
2000 |
Journal: |
Genomics |
Title: |
A transcript map of a 2-Mb BAC contig in the proximal portion of the mouse X chromosome and regional mapping of the scurfy mutation. |
Volume: |
65 |
Issue: |
3 |
Pages: |
213-23 |
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•
•
•
•
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Publication |
First Author: |
Blair HJ |
Year: |
2000 |
Journal: |
Mamm Genome |
Title: |
Positioning of five genes (CASK, ARX, SAT, IMAGE cDNAs 248928 and 253949) from the human X chromosome short arm with respect to evolutionary breakpoints on the mouse X chromosome. |
Volume: |
11 |
Issue: |
8 |
Pages: |
710-2 |
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•
•
•
•
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Publication |
First Author: |
Gerhard DS |
Year: |
2004 |
Journal: |
Genome Res |
Title: |
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |
Volume: |
14 |
Issue: |
10B |
Pages: |
2121-7 |
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•
•
•
•
•
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Publication |
First Author: |
Huttlin EL |
Year: |
2010 |
Journal: |
Cell |
Title: |
A tissue-specific atlas of mouse protein phosphorylation and expression. |
Volume: |
143 |
Issue: |
7 |
Pages: |
1174-89 |
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•
•
•
•
•
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Publication |
First Author: |
University of California, Davis |
Year: |
2010 |
Journal: |
MGI Direct Data Submission |
Title: |
Alleles produced for the KOMP project by the University of California, Davis |
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•
•
•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2001 |
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Title: |
RIKEN Data Curation in Mouse Genome Informatics |
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•
•
•
•
•
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Publication |
First Author: |
Koscielny G |
Year: |
2014 |
Journal: |
Nucleic Acids Res |
Title: |
The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. |
Volume: |
42 |
Issue: |
Database issue |
Pages: |
D802-9 |
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•
•
•
•
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