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UniProtKB - Q7RTS9 (DYM_HUMAN)
Protein
Dymeclin
Gene
DYM
Organism
Homo sapiens (Human)
Status
Functioni
Necessary for correct organization of Golgi apparatus. Involved in bone development.
1 PublicationGO - Molecular functioni
- enzyme binding Source: UniProtKB
GO - Biological processi
- bone development Source: UniProtKB
- Golgi organization Source: UniProtKB
Enzyme and pathway databases
PathwayCommonsi | Q7RTS9 |
SignaLinki | Q7RTS9 |
Names & Taxonomyi
Protein namesi | Recommended name: DymeclinAlternative name(s): Dyggve-Melchior-Clausen syndrome protein |
Gene namesi | Name:DYM |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:21317, DYM |
MIMi | 607461, gene |
neXtProti | NX_Q7RTS9 |
VEuPathDBi | HostDB:ENSG00000141627 |
Subcellular locationi
Cytoplasm and Cytosol
Golgi apparatus
Other locations
- Membrane Curated; Lipid-anchor Curated
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.
Golgi apparatus
- Golgi apparatus Source: UniProtKB
Other locations
Keywords - Cellular componenti
Cytoplasm, Golgi apparatus, MembranePathology & Biotechi
Involvement in diseasei
Dyggve-Melchior-Clausen syndrome (DMC)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_054499 | 469 | N → Y in DMC; results in protein mis-localization and aggregation. 2 PublicationsCorresponds to variant dbSNP:rs120074163EnsemblClinVar. | 1 |
Smith-McCort dysplasia 1 (SMC1)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_022740 | 87 | E → K in SMC1; does not affect protein localization. 2 PublicationsCorresponds to variant dbSNP:rs120074164EnsemblClinVar. | 1 | |
Natural variantiVAR_065293 | 542 | C → R in SMC1. 1 PublicationCorresponds to variant dbSNP:rs120074165Ensembl. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 2 | G → A: Does not affect protein localization to Golgi apparatus. Prevents myristoylation in vitro. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, DwarfismOrganism-specific databases
DisGeNETi | 54808 |
MalaCardsi | DYM |
MIMi | 223800, phenotype 607326, phenotype |
OpenTargetsi | ENSG00000141627 |
Orphaneti | 239, Dyggve-Melchior-Clausen disease 178355, Smith-McCort dysplasia |
PharmGKBi | PA134879547 |
Miscellaneous databases
Pharosi | Q7RTS9, Tbio |
Genetic variation databases
BioMutai | DYM |
DMDMi | 68565365 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | Removed1 Publication | |||
ChainiPRO_0000086883 | 2 – 669 | DymeclinAdd BLAST | 668 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Lipidationi | 2 | N-myristoyl glycine1 Publication1 Publication | 1 |
Post-translational modificationi
Myristoylated in vitro; myristoylation is not essential for protein targeting to Golgi compartment.1 Publication
Keywords - PTMi
Lipoprotein, MyristateProteomic databases
EPDi | Q7RTS9 |
jPOSTi | Q7RTS9 |
MassIVEi | Q7RTS9 |
MaxQBi | Q7RTS9 |
PaxDbi | Q7RTS9 |
PeptideAtlasi | Q7RTS9 |
PRIDEi | Q7RTS9 |
ProteomicsDBi | 68896 [Q7RTS9-1] 68897 [Q7RTS9-2] |
PTM databases
GlyGeni | Q7RTS9, 2 sites, 1 O-linked glycan (2 sites) |
iPTMneti | Q7RTS9 |
PhosphoSitePlusi | Q7RTS9 |
Expressioni
Tissue specificityi
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.2 Publications
Gene expression databases
Bgeei | ENSG00000141627, Expressed in pancreas and 213 other tissues |
ExpressionAtlasi | Q7RTS9, baseline and differential |
Genevisiblei | Q7RTS9, HS |
Organism-specific databases
HPAi | ENSG00000141627, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with GOLM1 and PPIB.
1 PublicationBinary interactionsi
GO - Molecular functioni
- enzyme binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 120165, 165 interactors |
ELMi | Q7RTS9 |
IntActi | Q7RTS9, 21 interactors |
STRINGi | 9606.ENSP00000269445 |
Miscellaneous databases
RNActi | Q7RTS9, protein |
Structurei
3D structure databases
AlphaFoldDBi | Q7RTS9 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Family & Domainsi
Sequence similaritiesi
Belongs to the dymeclin family.Curated
Phylogenomic databases
eggNOGi | KOG2225, Eukaryota |
GeneTreei | ENSGT00390000008772 |
HOGENOMi | CLU_013309_2_0_1 |
InParanoidi | Q7RTS9 |
OrthoDBi | 982213at2759 |
PhylomeDBi | Q7RTS9 |
TreeFami | TF314870 |
Family and domain databases
InterProi | View protein in InterPro IPR019142, Dymeclin |
PANTHERi | PTHR12895, PTHR12895, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q7RTS9-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MGSNSSRIGD LPKNEYLKKL SGTESISEND PFWNQLLSFS FPAPTSSSEL
60 70 80 90 100
KLLEEATISV CRSLVENNPR TGNLGALIKV FLSRTKELKL SAECQNHIFI
110 120 130 140 150
WQTHNALFII CCLLKVFICQ MSEEELQLHF TYEEKSPGNY SSDSEDLLEE
160 170 180 190 200
LLCCLMQLIT DIPLLDITYE ISVEAISTMV VFLSCQLFHK EVLRQSISHK
210 220 230 240 250
YLMRGPCLPY TSKLVKTLLY NFIRQEKPPP PGAHVFPQQS DGGGLLYGLA
260 270 280 290 300
SGVATGLWTV FTLGGVGSKA AASPELSSPL ANQSLLLLLV LANLTDASDA
310 320 330 340 350
PNPYRQAIMS FKNTQDSSPF PSSIPHAFQI NFNSLYTALC EQQTSDQATL
360 370 380 390 400
LLYTLLHQNS NIRTYMLART DMENLVLPIL EILYHVEERN SHHVYMALII
410 420 430 440 450
LLILTEDDGF NRSIHEVILK NITWYSERVL TEISLGSLLI LVVIRTIQYN
460 470 480 490 500
MTRTRDKYLH TNCLAALANM SAQFRSLHQY AAQRIISLFS LLSKKHNKVL
510 520 530 540 550
EQATQSLRGS LSSNDVPLPD YAQDLNVIEE VIRMMLEIIN SCLTNSLHHN
560 570 580 590 600
PNLVYALLYK RDLFEQFRTH PSFQDIMQNI DLVISFFSSR LLQAGAELSV
610 620 630 640 650
ERVLEIIKQG VVALPKDRLK KFPELKFKYV EEEQPEEFFI PYVWSLVYNS
660
AVGLYWNPQD IQLFTMDSD
Computationally mapped potential isoform sequencesi
There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketJ3KRG4 | J3KRG4_HUMAN | Dymeclin | DYM | 163 | Annotation score: | ||
J3QR81 | J3QR81_HUMAN | Dymeclin | DYM | 109 | Annotation score: | ||
J3QQT7 | J3QQT7_HUMAN | Dymeclin | DYM | 116 | Annotation score: | ||
J3KSF9 | J3KSF9_HUMAN | Dymeclin | DYM | 139 | Annotation score: | ||
J3QRF2 | J3QRF2_HUMAN | Dymeclin | DYM | 142 | Annotation score: | ||
J3QSE7 | J3QSE7_HUMAN | Dymeclin | DYM | 141 | Annotation score: | ||
A0A6Q8PF81 | A0A6Q8PF81_HUMAN | Dymeclin | DYM | 724 | Annotation score: | ||
J3QRD8 | J3QRD8_HUMAN | Dymeclin | DYM | 67 | Annotation score: | ||
E9PG80 | E9PG80_HUMAN | Dymeclin | DYM | 39 | Annotation score: | ||
J3KTF2 | J3KTF2_HUMAN | Dymeclin | DYM | 74 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 66 | E → K in BAC11088 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 249 | L → P in BAC11088 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 381 | E → G in BAF83992 (Ref. 3) Curated | 1 | |
Sequence conflicti | 408 | D → Y in AAH64394 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 453 | R → K in BAF83992 (Ref. 3) Curated | 1 | |
Sequence conflicti | 537 | E → G in BAF83992 (Ref. 3) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_022740 | 87 | E → K in SMC1; does not affect protein localization. 2 PublicationsCorresponds to variant dbSNP:rs120074164EnsemblClinVar. | 1 | |
Natural variantiVAR_054499 | 469 | N → Y in DMC; results in protein mis-localization and aggregation. 2 PublicationsCorresponds to variant dbSNP:rs120074163EnsemblClinVar. | 1 | |
Natural variantiVAR_065293 | 542 | C → R in SMC1. 1 PublicationCorresponds to variant dbSNP:rs120074165Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_036442 | 65 | V → A in isoform 2. 1 Publication | 1 | |
Alternative sequenceiVSP_036443 | 66 – 255 | Missing in isoform 2. 1 PublicationAdd BLAST | 190 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | BK000950 Genomic DNA Translation: DAA00396.1 AK074611 mRNA Translation: BAC11088.1 AK091256 mRNA Translation: BAG52319.1 AK291303 mRNA Translation: BAF83992.1 AK296579 mRNA Translation: BAG59199.1 AK315091 mRNA Translation: BAG37556.1 CH471096 Genomic DNA Translation: EAW62933.1 BC001252 mRNA Translation: AAH01252.2 BC064394 mRNA Translation: AAH64394.1 AY364250 mRNA Translation: AAQ76809.1 AL390156 mRNA Translation: CAB99092.1 |
CCDSi | CCDS11937.1 [Q7RTS9-1] |
RefSeqi | NP_060123.3, NM_017653.3 [Q7RTS9-1] |
Genome annotation databases
Ensembli | ENST00000269445.10; ENSP00000269445.6; ENSG00000141627.14 ENST00000442713.6; ENSP00000395942.2; ENSG00000141627.14 [Q7RTS9-2] |
GeneIDi | 54808 |
KEGGi | hsa:54808 |
UCSCi | uc002ldi.2, human [Q7RTS9-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | BK000950 Genomic DNA Translation: DAA00396.1 AK074611 mRNA Translation: BAC11088.1 AK091256 mRNA Translation: BAG52319.1 AK291303 mRNA Translation: BAF83992.1 AK296579 mRNA Translation: BAG59199.1 AK315091 mRNA Translation: BAG37556.1 CH471096 Genomic DNA Translation: EAW62933.1 BC001252 mRNA Translation: AAH01252.2 BC064394 mRNA Translation: AAH64394.1 AY364250 mRNA Translation: AAQ76809.1 AL390156 mRNA Translation: CAB99092.1 |
CCDSi | CCDS11937.1 [Q7RTS9-1] |
RefSeqi | NP_060123.3, NM_017653.3 [Q7RTS9-1] |
3D structure databases
AlphaFoldDBi | Q7RTS9 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 120165, 165 interactors |
ELMi | Q7RTS9 |
IntActi | Q7RTS9, 21 interactors |
STRINGi | 9606.ENSP00000269445 |
PTM databases
GlyGeni | Q7RTS9, 2 sites, 1 O-linked glycan (2 sites) |
iPTMneti | Q7RTS9 |
PhosphoSitePlusi | Q7RTS9 |
Genetic variation databases
BioMutai | DYM |
DMDMi | 68565365 |
Proteomic databases
EPDi | Q7RTS9 |
jPOSTi | Q7RTS9 |
MassIVEi | Q7RTS9 |
MaxQBi | Q7RTS9 |
PaxDbi | Q7RTS9 |
PeptideAtlasi | Q7RTS9 |
PRIDEi | Q7RTS9 |
ProteomicsDBi | 68896 [Q7RTS9-1] 68897 [Q7RTS9-2] |
Protocols and materials databases
Antibodypediai | 22572, 132 antibodies from 22 providers |
DNASUi | 54808 |
Genome annotation databases
Ensembli | ENST00000269445.10; ENSP00000269445.6; ENSG00000141627.14 ENST00000442713.6; ENSP00000395942.2; ENSG00000141627.14 [Q7RTS9-2] |
GeneIDi | 54808 |
KEGGi | hsa:54808 |
UCSCi | uc002ldi.2, human [Q7RTS9-1] |
Organism-specific databases
CTDi | 54808 |
DisGeNETi | 54808 |
GeneCardsi | DYM |
HGNCi | HGNC:21317, DYM |
HPAi | ENSG00000141627, Low tissue specificity |
MalaCardsi | DYM |
MIMi | 223800, phenotype 607326, phenotype 607461, gene |
neXtProti | NX_Q7RTS9 |
OpenTargetsi | ENSG00000141627 |
Orphaneti | 239, Dyggve-Melchior-Clausen disease 178355, Smith-McCort dysplasia |
PharmGKBi | PA134879547 |
VEuPathDBi | HostDB:ENSG00000141627 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2225, Eukaryota |
GeneTreei | ENSGT00390000008772 |
HOGENOMi | CLU_013309_2_0_1 |
InParanoidi | Q7RTS9 |
OrthoDBi | 982213at2759 |
PhylomeDBi | Q7RTS9 |
TreeFami | TF314870 |
Enzyme and pathway databases
PathwayCommonsi | Q7RTS9 |
SignaLinki | Q7RTS9 |
Miscellaneous databases
BioGRID-ORCSi | 54808, 15 hits in 1086 CRISPR screens |
ChiTaRSi | DYM, human |
GeneWikii | DYM |
GenomeRNAii | 54808 |
Pharosi | Q7RTS9, Tbio |
PROi | PR:Q7RTS9 |
RNActi | Q7RTS9, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000141627, Expressed in pancreas and 213 other tissues |
ExpressionAtlasi | Q7RTS9, baseline and differential |
Genevisiblei | Q7RTS9, HS |
Family and domain databases
InterProi | View protein in InterPro IPR019142, Dymeclin |
PANTHERi | PTHR12895, PTHR12895, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | DYM_HUMAN | |
Accessioni | Q7RTS9Primary (citable) accession number: Q7RTS9 Secondary accession number(s): A8K5I8 Q9NPU7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 5, 2005 |
Last sequence update: | December 15, 2003 | |
Last modified: | May 25, 2022 | |
This is version 138 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 18
Human chromosome 18: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families