Summary: Dyggve-Melchior-Clausen syndrome protein
This is the Wikipedia entry entitled "Dymeclin protein family". More...
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Dymeclin protein family Edit Wikipedia article
In molecular biology, the Dymeclin protein family is a family of proteins which includes human Dymeclin. Dymeclin (Dyggve-Melchior-Clausen syndrome protein) contains a large number of leucine and isoleucine residues and a total of 17 repeated dileucine motifs. It is characteristically about 700 amino acids long and present in plants and animals. In humans, mutations in the gene coding for this protein give rise to a disorder called Dyggve-Melchior-Clausen syndrome, which is an autosomal-recessive disorder characterised by the association of spondylo-epi-metaphyseal dysplasia and intellectual disability.
This family of proteins also includes Hid1 (high-temperature-induced dauer-formation protein 1) from Caenorhabditis elegans which encodes a novel highly conserved putative transmembrane protein expressed in neurons. It contains up to seven potential transmembrane domains separated by regions of low complexity. Functionally this protein might be involved in vesicle secretion or be an inter-cellular signalling protein or be a novel insulin receptor.
- El Ghouzzi V, Dagoneau N, Kinning E, Thauvin-Robinet C, Chemaitilly W, Prost-Squarcioni C, Al-Gazali LI, Verloes A, Le Merrer M, Munnich A, Trembath RC, Cormier-Daire V (February 2003). "Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome". Hum. Mol. Genet. 12 (3): 357–64. doi:10.1093/hmg/ddg029. PMID 12554689.
- Ailion M, Thomas JH (September 2003). "Isolation and characterization of high-temperature-induced Dauer formation mutants in Caenorhabditis elegans". Genetics 165 (1): 127–44. PMC 1462745. PMID 14504222.
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Dyggve-Melchior-Clausen syndrome protein Provide feedback
Dymeclin (Dyggve-Melchior-Clausen syndrome protein) contains a large number of leucine and isoleucine residues and a total of 17 repeated dileucine motifs. It is characteristically about 700 residues long and present in plants and animals. Mutations in the gene coding for this protein in humans give rise to the disorder Dyggve-Melchior-Clausen syndrome (DMC, MIM 223800) which is an autosomal-recessive disorder characterised by the association of a spondylo-epi-metaphyseal dysplasia and mental retardation . DYM transcripts are widely expressed throughout human development and Dymeclin is not an integral membrane protein of the ER, but rather a peripheral membrane protein dynamically associated with the Golgi apparatus .
El Ghouzzi V, Dagoneau N, Kinning E, Thauvin-Robinet C, Chemaitilly W, Prost-Squarcioni C, Al-Gazali LI, Verloes A, Le Merrer M, Munnich A, Trembath RC, Cormier-Daire V; , Hum Mol Genet. 2003;12:357-364.: Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome. PUBMED:12554689 EPMC:12554689
Dimitrov A, Paupe V, Gueudry C, Sibarita JB, Raposo G, Vielemeyer O, Gilbert T, Csaba Z, Attie-Bitach T, Cormier-Daire V, Gressens P, Rustin P, Perez F, El Ghouzzi V;, Hum Mol Genet. 2009;18:1714-1716.: The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus. PUBMED:18996921 EPMC:18996921
External database links
This tab holds annotation information from the InterPro database.
InterPro entry IPR019142
Dymeclin (Dyggve-Melchior-Clausen syndrome protein) contains a large number of leucine and isoleucine residues and a total of 17 repeated dileucine motifs. It is characteristically about 700 residues long and present in plants and animals. In humans, mutations in the gene coding for this protein give rise to a disorder called Dyggve-Melchior-Clausen syndrome (DMC, MIM 223800), which is an autosomal-recessive disorder characterised by the association of spondylo-epi-metaphyseal dysplasia and mental retardation [PUBMED:12554689].
This entry also includes Hid1 (high-temperature-induced dauer-formation protein 1) from Caenorhabditis elegans which encodes a novel highly conserved putative transmembrane protein expressed in neurons [PUBMED:14504222]. It contains up to seven potential transmembrane domains separated by regions of low complexity. Functionally this protein might be involved in vesicle secretion or be an inter-cellular signalling protein or be a novel insulin receptor [PUBMED:14504222].
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This superfamily is characterised by comprising multiple-pass membrane proteins that are associated with various aspects of trafficking of molecules into and out of the Golgi apparatus.
The clan contains the following 2 members:Dymeclin Hid1
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Curation and family details
|Seed source:||KOGs (KOG2225)|
|Author:||KOGs, Finn RD, Coggill PC|
|Number in seed:||25|
|Number in full:||291|
|Average length of the domain:||481.00 aa|
|Average identity of full alignment:||28 %|
|Average coverage of the sequence by the domain:||87.39 %|
|HMM build commands:||
build method: hmmbuild -o /dev/null HMM SEED
search method: hmmsearch -Z 23193494 -E 1000 --cpu 4 HMM pfamseq
|Family (HMM) version:||4|
|Download:||download the raw HMM for this family|
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