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Search results 201 to 246 out of 246 for Dysf

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0.017s

Type

Details

Score

Protein

A0A286YDV5

Organism:	Mus musculus/domesticus
Length:	186
Fragment?:	true

•

Protein

M1JB80

Organism:	Mus musculus/domesticus
Length:	300
Fragment?:	true

•

Protein Domain

IPR037720 | C2B_Ferlin

Type:

Domain

Description:

Ferlins are involved in vesicle fusion events []. Ferlins and other proteins, such as synaptotagmins, are implicated in facilitating the fusion process when cell membranes fuse together. There are six known human Ferlins: Dysferlin (Fer1L1), Otoferlin (Fer1L2), Myoferlin (Fer1L3), Fer1L4, Fer1L5, and Fer1L6. Defects in these genes can lead to a wide range of diseases including muscular dystrophy (dysferlin), deafness (otoferlin), and infertility (fer-1, fertilization factor-1).Structurally they have 6 tandem C2 domains, designated as (C2A-C2F) and a single C-terminal transmembrane domain, though there is a new study that disputes this and claims that there are actually 7 tandem C2 domains with another C2 domain inserted between C2D and C2E. In a subset of them (Dysferlin, Myoferlin, and Fer1) there is an additional conserved domain called DysF [].C2 domains fold into an 8-standed β-sandwich that can adopt 2 structural arrangements: type I and type II, distinguished by a circular permutation involving their N- and C-terminal beta strands. Many C2 domains are Ca2+-dependent membrane-targeting modules that bind a wide variety of substances including bind phospholipids, inositol polyphosphates, and intracellular proteins [, , ].This entry represents the second C2 repeat of ferlins, C2B, which has a type-II topology.

•

Protein Domain

IPR037722 | C2C_Ferlin

Type:

Domain

Description:

Ferlins are involved in vesicle fusion events []. Ferlins and other proteins, such as synaptotagmins, are implicated in facilitating the fusion process when cell membranes fuse together. There are six known human Ferlins: Dysferlin (Fer1L1), Otoferlin (Fer1L2), Myoferlin (Fer1L3), Fer1L4, Fer1L5, and Fer1L6. Defects in these genes can lead to a wide range of diseases including muscular dystrophy (dysferlin), deafness (otoferlin), and infertility (fer-1, fertilization factor-1).Structurally they have 6 tandem C2 domains, designated as (C2A-C2F) and a single C-terminal transmembrane domain, though there is a new study that disputes this and claims that there are actually 7 tandem C2 domains with another C2 domain inserted between C2D and C2E. In a subset of them (Dysferlin, Myoferlin, and Fer1) there is an additional conserved domain called DysF [].C2 domains fold into an 8-standed β-sandwich that can adopt 2 structural arrangements: type I and type II, distinguished by a circular permutation involving their N- and C-terminal beta strands. Many C2 domains are Ca2+-dependent membrane-targeting modules that bind a wide variety of substances including bind phospholipids, inositol polyphosphates, and intracellular proteins [, , ].This entry represents the third C2 repeat of ferlins, C2C, and has a type-II topology.

•

Protein Domain

IPR037723 | C2D_Ferlin

Type:

Domain

Description:

Ferlins are involved in vesicle fusion events []. Ferlins and other proteins, such as synaptotagmins, are implicated in facilitating the fusion process when cell membranes fuse together. There are six known human Ferlins: Dysferlin (Fer1L1), Otoferlin (Fer1L2), Myoferlin (Fer1L3), Fer1L4, Fer1L5, and Fer1L6. Defects in these genes can lead to a wide range of diseases including muscular dystrophy (dysferlin), deafness (otoferlin), and infertility (fer-1, fertilization factor-1).Structurally they have 6 tandem C2 domains, designated as (C2A-C2F) and a single C-terminal transmembrane domain, though there is a new study that disputes this and claims that there are actually 7 tandem C2 domains with another C2 domain inserted between C2D and C2E. In a subset of them (Dysferlin, Myoferlin, and Fer1) there is an additional conserved domain called DysF [].C2 domains fold into an 8-standed β-sandwich that can adopt 2 structural arrangements: type I and type II, distinguished by a circular permutation involving their N- and C-terminal beta strands. Many C2 domains are Ca2+-dependent membrane-targeting modules that bind a wide variety of substances including bind phospholipids, inositol polyphosphates, and intracellular proteins [, , ].This entry represents the fourth C2 repeat of ferlins, C2D, which has a type-II topology.

•

Protein Domain

IPR037724 | C2E_Ferlin

Type:

Domain

Description:

Ferlins are involved in vesicle fusion events []. Ferlins and other proteins, such as synaptotagmins, are implicated in facilitating the fusion process when cell membranes fuse together. There are six known human Ferlins: Dysferlin (Fer1L1), Otoferlin (Fer1L2), Myoferlin (Fer1L3), Fer1L4, Fer1L5, and Fer1L6. Defects in these genes can lead to a wide range of diseases including muscular dystrophy (dysferlin), deafness (otoferlin), and infertility (fer-1, fertilization factor-1).Structurally they have 6 tandem C2 domains, designated as (C2A-C2F) and a single C-terminal transmembrane domain, though there is a new study that disputes this and claims that there are actually 7 tandem C2 domains with another C2 domain inserted between C2D and C2E. In a subset of them (Dysferlin, Myoferlin, and Fer1) there is an additional conserved domain called DysF [].C2 domains fold into an 8-standed β-sandwich that can adopt 2 structural arrangements: type I and type II, distinguished by a circular permutation involving their N- and C-terminal beta strands. Many C2 domains are Ca2+-dependent membrane-targeting modules that bind a wide variety of substances including bind phospholipids, inositol polyphosphates, and intracellular proteins [, , ].This entry represents the fifth C2 repeat of ferlins, C2E, which has a type-II topology.

•

Protein Domain

IPR037725 | C2F_Ferlin

Type:

Domain

Description:

Ferlins are involved in vesicle fusion events []. Ferlins and other proteins, such as synaptotagmins, are implicated in facilitating the fusion process when cell membranes fuse together. There are six known human Ferlins: Dysferlin (Fer1L1), Otoferlin (Fer1L2), Myoferlin (Fer1L3), Fer1L4, Fer1L5, and Fer1L6. Defects in these genes can lead to a wide range of diseases including muscular dystrophy (dysferlin), deafness (otoferlin), and infertility (fer-1, fertilization factor-1).Structurally they have 6 tandem C2 domains, designated as (C2A-C2F) and a single C-terminal transmembrane domain, though there is a new study that disputes this and claims that there are actually 7 tandem C2 domains with another C2 domain inserted between C2D and C2E. In a subset of them (Dysferlin, Myoferlin, and Fer1) there is an additional conserved domain called DysF [].C2 domains fold into an 8-standed β-sandwich that can adopt 2 structural arrangements: type I and type II, distinguished by a circular permutation involving their N- and C-terminal beta strands. Many C2 domains are Ca2+-dependent membrane-targeting modules that bind a wide variety of substances including bind phospholipids, inositol polyphosphates, and intracellular proteins [, , ].This entry represents the sixth C2 repeat of ferlins, C2E, which has a type-II topology.

•

Protein Domain

IPR037726 | C2A_Ferlin

Type:

Domain

Description:

Ferlins are involved in vesicle fusion events []. Ferlins and other proteins, such as synaptotagmins, are implicated in facilitating the fusion process when cell membranes fuse together. There are six known human Ferlins: Dysferlin (Fer1L1), Otoferlin (Fer1L2), Myoferlin (Fer1L3), Fer1L4, Fer1L5, and Fer1L6. Defects in these genes can lead to a wide range of diseases including muscular dystrophy (dysferlin), deafness (otoferlin), and infertility (fer-1, fertilization factor-1).Structurally they have 6 tandem C2 domains, designated as (C2A-C2F) and a single C-terminal transmembrane domain, though there is a new study that disputes this and claims that there are actually 7 tandem C2 domains with another C2 domain inserted between C2D and C2E. In a subset of them (Dysferlin, Myoferlin, and Fer1) there is an additional conserved domain called DysF [].C2 domains fold into an 8-standed β-sandwich that can adopt 2 structural arrangements: type I and type II, distinguished by a circular permutation involving their N- and C-terminal beta strands. Many C2 domains are Ca2+-dependent membrane-targeting modules that bind a wide variety of substances including bind phospholipids, inositol polyphosphates, and intracellular proteins [, , ].This entry represents the first C2 repeat of ferlins, C2A, which has a type-II topology.

•

Publication

20667140 | -

First Author:	Lek A
Year:	2010
Journal:	BMC Evol Biol
Title:	Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins.
Volume:	10

Pages:	231

•

Publication

21838746 | -

First Author:	Lek A
Year:	2012
Journal:	Traffic
Title:	Ferlins: regulators of vesicle fusion for auditory neurotransmission, receptor trafficking and membrane repair.
Volume:	13
Issue:	2
Pages:	185-94

•

Protein

E0CZ42

Organism:	Mus musculus/domesticus
Length:	1862
Fragment?:	false

•

Protein

A0A286YCZ3

Organism:	Mus musculus/domesticus
Length:	1307
Fragment?:	true

•

Protein

P0DM40

Organism:	Mus musculus/domesticus
Length:	2038
Fragment?:	false

•

Protein

Q9ESD7

Organism:	Mus musculus/domesticus
Length:	2090
Fragment?:	false

•

Protein

A3KGK3

Organism:	Mus musculus/domesticus
Length:	1992
Fragment?:	false

•

Protein

Q9ESF1

Organism:	Mus musculus/domesticus
Length:	1997
Fragment?:	false

•

Protein

Q69ZN7

Organism:	Mus musculus/domesticus
Length:	2048
Fragment?:	false

•

Protein

A0A0N4SUJ2

Organism:	Mus musculus/domesticus
Length:	2090
Fragment?:	false

•

Protein

B7ZN98

Organism:	Mus musculus/domesticus
Length:	1977
Fragment?:	false

•

Protein

A0A0N4SWG7

Organism:	Mus musculus/domesticus
Length:	2103
Fragment?:	false

•

Protein

A0A2Z2CEU0

Organism:	Mus musculus/domesticus
Length:	1977
Fragment?:	false

•

Protein

A0A0N4SVX9

Organism:	Mus musculus/domesticus
Length:	2114
Fragment?:	false

•

Protein

Z4YL23

Organism:	Mus musculus/domesticus
Length:	1994
Fragment?:	false

•

Protein

A0A286YDF5

Organism:	Mus musculus/domesticus
Length:	2061
Fragment?:	false

•

Protein

E9QL12

Organism:	Mus musculus/domesticus
Length:	2082
Fragment?:	false

•

Protein

E9Q423

Organism:	Mus musculus/domesticus
Length:	2099
Fragment?:	false

•

Protein

E9Q390

Organism:	Mus musculus/domesticus
Length:	2048
Fragment?:	false

•

Protein

B9EK95

Organism:	Mus musculus/domesticus
Length:	2061
Fragment?:	false

•

Protein

A0A0N4SUN3

Organism:	Mus musculus/domesticus
Length:	2104
Fragment?:	false

•

Protein

A0A0R4J1K2

Organism:	Mus musculus/domesticus
Length:	1992
Fragment?:	false

•

Protein

A0A0N4SWH3

Organism:	Mus musculus/domesticus
Length:	2103
Fragment?:	false

•

Protein

A0A0N4SV63

Organism:	Mus musculus/domesticus
Length:	2120
Fragment?:	false

•

Protein

E9PXU9

Organism:	Mus musculus/domesticus
Length:	2083
Fragment?:	false

•

Protein

E9PYR6

Organism:	Mus musculus/domesticus
Length:	1997
Fragment?:	false

•

Protein

M1JML7

Organism:	Mus musculus/domesticus
Length:	523
Fragment?:	true

•

Protein

Q9D2X7

Organism:	Mus musculus/domesticus
Length:	172
Fragment?:	false

•

Protein

A0A0J9YV09

Organism:	Mus musculus/domesticus
Length:	209
Fragment?:	true

•

Protein

M1JB08

Organism:	Mus musculus/domesticus
Length:	228
Fragment?:	true

•

Protein

A0A0J9YTZ2

Organism:	Mus musculus/domesticus
Length:	261
Fragment?:	true

•

Protein

A0FLF1

Organism:	Mus musculus/domesticus
Length:	114
Fragment?:	true

•

Protein

M1INE8

Organism:	Mus musculus/domesticus
Length:	161
Fragment?:	true

•

Publication

8771209 | -

First Author:	Ponting CP
Year:	1996
Journal:	Protein Sci
Title:	Extending the C2 domain family: C2s in PKCs delta, epsilon, eta, theta, phospholipases, GAPs, and perforin.
Volume:	5
Issue:	1
Pages:	162-6

•

Publication

9632630 | -

First Author:	Rizo J
Year:	1998
Journal:	J Biol Chem
Title:	C2-domains, structure and function of a universal Ca2+-binding domain.
Volume:	273
Issue:	26
Pages:	15879-82

•

Publication

8976547 | -

First Author:	Nalefski EA
Year:	1996
Journal:	Protein Sci
Title:	The C2 domain calcium-binding motif: structural and functional diversity.
Volume:	5
Issue:	12
Pages:	2375-90

•

Protein

M1J7Q2

Organism:	Mus musculus/domesticus
Length:	460
Fragment?:	true

•

Publication

15489334 | -

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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MouseMine is a collaboration between MGI at The Jackson Laboratory and the InterMine project at the Cambridge Systems Biology Centre. MouseMine is funded through a grant from the NIH/NHGRI.The Jackson Laboratory makes no representation about the suitability or accuracy of this software or data for any purpose, and makes no warranties, either express or implied, including merchantability and fitness for a particular purpose or that the use of this software or data will not infringe any third party patents, copyrights, trademarks, or other rights. the software and data are provided "as is". This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of the Jackson Laboratory.

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