Version 5.4
Homo sapiens Protein: DYM
Summary
InnateDB Protein IDBP-369159.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DYM
Protein Name dymeclin
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000395942
InnateDB Gene IDBG-3212 (DYM)
Protein Structure
UniProt Annotation
Function Necessary for correct organization of Golgi apparatus. Involved in bone development. {ECO:0000269PubMed:21280149}.
Subcellular Localization Cytoplasm. Golgi apparatus. Note=Sequence analysis programs clearly predict 1 transmembrane region. However, PubMed:18996921 shows that it is not a stably anchored transmembrane protein but it weakly associates with the Golgi apparatus and shuttles between the Golgi and the cytosol.
Disease Associations Dyggve-Melchior-Clausen syndrome (DMC) [MIM:223800]: A rare autosomal recessive disorder belonging to the group of spondyloepimetaphyseal dysplasias. DMC is characterized by progressive short stature with short trunk dwarfism, microcephaly, protruding sternum, and psychomotor retardation. Radiological features include a platyspondyly with double vertebral humps, an epiphyso-metaphyseal dysplasia and lacy pelvis iliac crests. {ECO:0000269PubMed:12491225, ECO:0000269PubMed:12554689}. Note=The disease is caused by mutations affecting the gene represented in this entry.Smith-McCort dysplasia 1 (SMC1) [MIM:607326]: A rare autosomal recessive osteochondrodysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen syndrome, but with normal intelligence and no microcephaly. It is characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest. {ECO:0000269PubMed:12491225, ECO:0000269PubMed:19005420}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expressed in most embryo-fetal and adult tissues. Abundant in primary chondrocytes, osteoblasts, cerebellum, kidney, lung, stomach, heart, pancreas and fetal brain. Very low or no expression in the spleen, thymus, esophagus, bladder and thyroid gland. {ECO:0000269PubMed:12554689, ECO:0000269PubMed:18996921}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005488 binding
GO:0005515 protein binding
GO:0019899 enzyme binding
Biological Process
GO:0007030 Golgi organization
GO:0060348 bone development
Cellular Component
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
Protein Structure and Domains
PDB ID
InterPro IPR016024 Armadillo-type fold
IPR019142 Dymeclin
PFAM PF09742
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q7RTS9
PhosphoSite PhosphoSite-Q7RTS9
TrEMBL
UniProt Splice Variant
Entrez Gene 54808
UniGene Hs.712287
RefSeq
HUGO HGNC:21317
OMIM 607461
CCDS
HPRD 08469
IMGT
EMBL AK074611 AK091256 AK291303 AK296579 AK315091 AL390156 AY364250 BC001252 BC064394 BK000950 CH471096
GenPept AAH01252 AAH64394 AAQ76809 BAC11088 BAF83992 BAG37556 BAG52319 BAG59199 CAB99092 DAA00396 EAW62933

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca