DYM
entrez
54808
canonical
uniprot
Q7RTS9
canonical
ensembl
ENSG00000141627
resolver
ensp
ENSP00000269445
resolver
ensp
ENSP00000395942
resolver
ensp
ENSP00000501694
resolver
ensp
ENSP00000559634
resolver
ensp
ENSP00000622703
resolver
ensp
ENSP00000654785
resolver
ensp
ENSP00000654786
resolver
ensp
ENSP00000654787
resolver
ensp
ENSP00000654788
resolver
ensp
ENSP00000654790
resolver
ensp
ENSP00000654794
resolver
ensp
ENSP00000711572
resolver
ensp
ENSP00000711573
resolver
ensp
ENSP00000711581
resolver
ensp
ENSP00000711585
resolver
ensp
ENSP00000711591
resolver
ensp
ENSP00000785605
resolver
enst
ENST00000675505
resolver
genesymbol
DYM
resolver
hgnc
HGNC:21317
resolver
uniprot
A0A6Q8PF81
resolver
uniprot
A8K5I8
resolver
uniprot
B2RCF9
resolver
uniprot
B4DKI7
resolver
uniprot
Q3ZTS8
resolver
uniprot
Q6P2P5
resolver
uniprot
Q8N2M0
resolver
uniprot
Q9BVE9
resolver
uniprot
Q9NPU7
resolver
uniprot_entry
A0A6Q8PF81_HUMAN
resolver
uniprot_entry
DYM_HUMAN
resolver
uniprot_sec
A8K5I8
resolver
uniprot_sec
B2RCF9
resolver
uniprot_sec
B4DKI7
resolver
uniprot_sec
Q3ZTS8
resolver
uniprot_sec
Q6P2P5
resolver
uniprot_sec
Q8N2M0
resolver
uniprot_sec
Q9BVE9
resolver
uniprot_sec
Q9NPU7
resolver
amino_acid_sequence
MGSNSSRIGDLPKNEYLKKLSGTESISENDPFWNQLLSFSFPAPTSSSELKLLEEATISVCRSLVENNPRTGNLGALIKVFLSRTKELKLSAECQNHIFIWQTHNALFIICCLLKVFICQMSEEELQLHFTYEEKSPGNYSSDSEDLLEELLCCLMQLITDIPLLDITYEISVEAISTMVVFLSCQLFHKEVLRQSISHKYLMRGPCLPYTSKLVKTLLYNFIRQEKPPPPGAHVFPQQSDGGGLLYGLASGVATGLWTVFTLGGVGSKAAASPELSSPLANQSLLLLLVLANLTDASDAPNPYRQAIMSFKNTQDSSPFPSSIPHAFQINFNSLYTALCEQQTSDQATLLLYTLLHQNSNIRTYMLARTDMENLVLPILEILYHVEERNSHHVYMALIILLILTEDDGFNRSIHEVILKNITWYSERVLTEISLGSLLILVVIRTIQYNMTRTRDKYLHTNCLAALANMSAQFRSLHQYAAQRIISLFSLLSKKHNKVLEQATQSLRGSLSSNDVPLPDYAQDLNVIEEVIRMMLEIINSCLTNSLHHNPNLVYALLYKRDLFEQFRTHPSFQDIMQNIDLVISFFSSRLLQAGAELSVERVLEIIKQGVVALPKDRLKKFPELKFKYVEEEQPEEFFIPYVWSLVYNSAVGLYWNPQDIQLFTMDSD
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:12491225, ECO:0000269|PubMed:12554689, ECO:0000269|PubMed:18996921}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:12491225, ECO:0000269|PubMed:18996921, ECO:0000269|PubMed:19005420}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Necessary for correct organization of Golgi apparatus. Involved in bone development. {ECO:0000269|PubMed:21280149}.
uniprot
proteins
mass_dalton
75935
uniprot
proteins
mutagenesis
MUTAGEN 2; /note="G->A: Does not affect protein localization to Golgi apparatus. Prevents myristoylation in vitro."; /evidence="ECO:0000269|PubMed:18996921
uniprot
proteins
post_translational_modification
PTM: Myristoylated in vitro; myristoylation is not essential for protein targeting to Golgi compartment. {ECO:0000269|PubMed:18996921}.
uniprot
proteins
protein_family
Dymeclin family
uniprot
proteins
pubmed
12491225
uniprot
proteins
pubmed
12554689
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18996921
uniprot
proteins
pubmed
19005420
uniprot
proteins
pubmed
21280149
uniprot
proteins
pubmed
25255805
uniprot
proteins
sequence_length
669
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm. Golgi apparatus. Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}. 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.
uniprot
proteins