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0  structures 170  species 0  interactions 291  sequences 7  architectures

Family: Dymeclin (PF09742)

Summary: Dyggve-Melchior-Clausen syndrome protein

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This is the Wikipedia entry entitled "Dymeclin protein family". More...

Dymeclin protein family Edit Wikipedia article

Dymeclin
Identifiers
Symbol Dymeclin
Pfam PF09742
Pfam clan CL0456
InterPro IPR019142

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.[1]

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.[2] 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.[2]

References[edit]

  1. ^ 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. 
  2. ^ a b 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. 

This article incorporates text from the public domain Pfam and InterPro IPR019142

This page is based on a Wikipedia article. The text is available under the Creative Commons Attribution/Share-Alike License.

This tab holds the annotation information that is stored in the Pfam database. As we move to using Wikipedia as our main source of annotation, the contents of this tab will be gradually replaced by the Wikipedia tab.

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 [1]. 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 [2].

Literature references

  1. 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

  2. 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].

Domain organisation

Below is a listing of the unique domain organisations or architectures in which this domain is found. More...

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Pfam Clan

This family is a member of clan Golgi_traff (CL0456), which has the following description:

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

Alignments

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We make a range of alignments for each Pfam-A family. You can see a description of each above. You can view these alignments in various ways but please note that some types of alignment are never generated while others may not be available for all families, most commonly because the alignments are too large to handle.

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(25)
Full
(291)
Representative proteomes NCBI
(566)
Meta
(11)
RP15
(77)
RP35
(102)
RP55
(141)
RP75
(171)
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Format an alignment

  Seed
(25)
Full
(291)
Representative proteomes NCBI
(566)
Meta
(11)
RP15
(77)
RP35
(102)
RP55
(141)
RP75
(171)
Alignment:
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We make all of our alignments available in Stockholm format. You can download them here as raw, plain text files or as gzip-compressed files.

  Seed
(25)
Full
(291)
Representative proteomes NCBI
(566)
Meta
(11)
RP15
(77)
RP35
(102)
RP55
(141)
RP75
(171)
Raw Stockholm Download   Download   Download   Download   Download   Download   Download   Download  
Gzipped Download   Download   Download   Download   Download   Download   Download   Download  

You can also download a FASTA format file containing the full-length sequences for all sequences in the full alignment.

External links

MyHits provides a collection of tools to handle multiple sequence alignments. For example, one can refine a seed alignment (sequence addition or removal, re-alignment or manual edition) and then search databases for remote homologs using HMMER3.

Pfam alignments:

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Trees

This page displays the phylogenetic tree for this family's seed alignment. We use FastTree to calculate neighbour join trees with a local bootstrap based on 100 resamples (shown next to the tree nodes). FastTree calculates approximately-maximum-likelihood phylogenetic trees from our seed alignment.

Note: You can also download the data file for the tree.

Curation and family details

This section shows the detailed information about the Pfam family. You can see the definitions of many of the terms in this section in the glossary and a fuller explanation of the scoring system that we use in the scores section of the help pages.

Curation View help on the curation process

Seed source: KOGs (KOG2225)
Previous IDs: none
Type: Family
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 information View help on HMM parameters

HMM build commands:
build method: hmmbuild -o /dev/null HMM SEED
search method: hmmsearch -Z 23193494 -E 1000 --cpu 4 HMM pfamseq
Model details:
Parameter Sequence Domain
Gathering cut-off 25.0 25.0
Trusted cut-off 27.2 27.2
Noise cut-off 24.4 24.3
Model length: 678
Family (HMM) version: 4
Download: download the raw HMM for this family

Species distribution

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