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Protein

Dymeclin

Gene

DYM

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Necessary for correct organization of Golgi apparatus. Involved in bone development.1 Publication

GO - Molecular functioni

  • enzyme binding Source: UniProtKB

GO - Biological processi

  • bone development Source: UniProtKB
  • Golgi organization Source: UniProtKB

Names & Taxonomyi

Protein namesi
Recommended name:
Dymeclin
Alternative name(s):
Dyggve-Melchior-Clausen syndrome protein
Gene namesi
Name:DYM
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 18

Organism-specific databases

EuPathDBiHostDB:ENSG00000141627.13
HGNCiHGNC:21317 DYM
MIMi607461 gene
neXtProtiNX_Q7RTS9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Dyggve-Melchior-Clausen syndrome (DMC)3 Publications
The disease is caused by mutations 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.
See also OMIM:223800
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_054499469N → 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 mutations 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.
See also OMIM:607326
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02274087E → K in SMC1; does not affect protein localization. 2 PublicationsCorresponds to variant dbSNP:rs120074164EnsemblClinVar.1
Natural variantiVAR_065293542C → R in SMC1. 1 PublicationCorresponds to variant dbSNP:rs120074165EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi2G → A: Does not affect protein localization to Golgi apparatus. Prevents myristoylation in vitro. 1 Publication1

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNETi54808
MalaCardsiDYM
MIMi223800 phenotype
607326 phenotype
OpenTargetsiENSG00000141627
Orphaneti239 Dyggve-Melchior-Clausen disease
178355 Smith-McCort dysplasia
PharmGKBiPA134879547

Polymorphism and mutation databases

BioMutaiDYM
DMDMi68565365

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00000868832 – 669DymeclinAdd BLAST668

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Lipidationi2N-myristoyl glycine1 Publication1 Publication1

Post-translational modificationi

Myristoylated in vitro; myristoylation is not essential for protein targeting to Golgi compartment.1 Publication

Keywords - PTMi

Lipoprotein, Myristate

Proteomic databases

EPDiQ7RTS9
MaxQBiQ7RTS9
PaxDbiQ7RTS9
PeptideAtlasiQ7RTS9
PRIDEiQ7RTS9
ProteomicsDBi68896
68897 [Q7RTS9-2]

PTM databases

iPTMnetiQ7RTS9
PhosphoSitePlusiQ7RTS9

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

BgeeiENSG00000141627 Expressed in 195 organ(s), highest expression level in skeletal muscle tissue
CleanExiHS_DYM
ExpressionAtlasiQ7RTS9 baseline and differential
GenevisibleiQ7RTS9 HS

Organism-specific databases

HPAiHPA043551
HPA049187

Interactioni

Subunit structurei

Interacts with GOLM1 and PPIB.1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi120165, 23 interactors
ELMiQ7RTS9
IntActiQ7RTS9, 1 interactor
STRINGi9606.ENSP00000269445

Structurei

3D structure databases

ProteinModelPortaliQ7RTS9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the dymeclin family.Curated

Phylogenomic databases

eggNOGiKOG2225 Eukaryota
ENOG410XP0J LUCA
GeneTreeiENSGT00390000008772
HOVERGENiHBG057356
InParanoidiQ7RTS9
OMAiIQYNMLK
OrthoDBiEOG091G031X
PhylomeDBiQ7RTS9
TreeFamiTF314870

Family and domain databases

InterProiView protein in InterPro
IPR019142 Dymeclin
PANTHERiPTHR12895 PTHR12895, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This 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 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:669
Mass (Da):75,935
Last modified:December 15, 2003 - v1
Checksum:i7C8A216A09DBE43F
GO
Isoform 2 (identifier: Q7RTS9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     65-65: V → A
     66-255: Missing.

Note: No experimental confirmation available.
Show »
Length:479
Mass (Da):54,425
Checksum:i1150D81BF01D76BC
GO

Computationally mapped potential isoform sequencesi

There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KRG4J3KRG4_HUMAN
Dymeclin
DYM
163Annotation score:
J3QSE7J3QSE7_HUMAN
Dymeclin
DYM
141Annotation score:
J3KSU8J3KSU8_HUMAN
Dymeclin
DYM
122Annotation score:
J3QR81J3QR81_HUMAN
Dymeclin
DYM
109Annotation score:
J3QQT7J3QQT7_HUMAN
Dymeclin
DYM
116Annotation score:
J3QRF2J3QRF2_HUMAN
Dymeclin
DYM
142Annotation score:
J3KSF9J3KSF9_HUMAN
Dymeclin
DYM
139Annotation score:
J3QRD8J3QRD8_HUMAN
Dymeclin
DYM
67Annotation score:
J3KTF2J3KTF2_HUMAN
Dymeclin
DYM
74Annotation score:
E9PG80E9PG80_HUMAN
Dymeclin
DYM
39Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti66E → K in BAC11088 (PubMed:14702039).Curated1
Sequence conflicti249L → P in BAC11088 (PubMed:14702039).Curated1
Sequence conflicti381E → G in BAF83992 (Ref. 3) Curated1
Sequence conflicti408D → Y in AAH64394 (PubMed:15489334).Curated1
Sequence conflicti453R → K in BAF83992 (Ref. 3) Curated1
Sequence conflicti537E → G in BAF83992 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02274087E → K in SMC1; does not affect protein localization. 2 PublicationsCorresponds to variant dbSNP:rs120074164EnsemblClinVar.1
Natural variantiVAR_054499469N → Y in DMC; results in protein mis-localization and aggregation. 2 PublicationsCorresponds to variant dbSNP:rs120074163EnsemblClinVar.1
Natural variantiVAR_065293542C → R in SMC1. 1 PublicationCorresponds to variant dbSNP:rs120074165EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_03644265V → A in isoform 2. 1 Publication1
Alternative sequenceiVSP_03644366 – 255Missing in isoform 2. 1 PublicationAdd BLAST190

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
CCDSiCCDS11937.1 [Q7RTS9-1]
RefSeqiNP_060123.3, NM_017653.3 [Q7RTS9-1]
UniGeneiHs.162996
Hs.592921

Genome annotation databases

EnsembliENST00000269445; ENSP00000269445; ENSG00000141627 [Q7RTS9-1]
ENST00000442713; ENSP00000395942; ENSG00000141627 [Q7RTS9-2]
GeneIDi54808
KEGGihsa:54808
UCSCiuc002ldi.2 human [Q7RTS9-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar 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
CCDSiCCDS11937.1 [Q7RTS9-1]
RefSeqiNP_060123.3, NM_017653.3 [Q7RTS9-1]
UniGeneiHs.162996
Hs.592921

3D structure databases

ProteinModelPortaliQ7RTS9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120165, 23 interactors
ELMiQ7RTS9
IntActiQ7RTS9, 1 interactor
STRINGi9606.ENSP00000269445

PTM databases

iPTMnetiQ7RTS9
PhosphoSitePlusiQ7RTS9

Polymorphism and mutation databases

BioMutaiDYM
DMDMi68565365

Proteomic databases

EPDiQ7RTS9
MaxQBiQ7RTS9
PaxDbiQ7RTS9
PeptideAtlasiQ7RTS9
PRIDEiQ7RTS9
ProteomicsDBi68896
68897 [Q7RTS9-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000269445; ENSP00000269445; ENSG00000141627 [Q7RTS9-1]
ENST00000442713; ENSP00000395942; ENSG00000141627 [Q7RTS9-2]
GeneIDi54808
KEGGihsa:54808
UCSCiuc002ldi.2 human [Q7RTS9-1]

Organism-specific databases

CTDi54808
DisGeNETi54808
EuPathDBiHostDB:ENSG00000141627.13
GeneCardsiDYM
HGNCiHGNC:21317 DYM
HPAiHPA043551
HPA049187
MalaCardsiDYM
MIMi223800 phenotype
607326 phenotype
607461 gene
neXtProtiNX_Q7RTS9
OpenTargetsiENSG00000141627
Orphaneti239 Dyggve-Melchior-Clausen disease
178355 Smith-McCort dysplasia
PharmGKBiPA134879547
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2225 Eukaryota
ENOG410XP0J LUCA
GeneTreeiENSGT00390000008772
HOVERGENiHBG057356
InParanoidiQ7RTS9
OMAiIQYNMLK
OrthoDBiEOG091G031X
PhylomeDBiQ7RTS9
TreeFamiTF314870

Miscellaneous databases

ChiTaRSiDYM human
GeneWikiiDYM
GenomeRNAii54808
PROiPR:Q7RTS9
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000141627 Expressed in 195 organ(s), highest expression level in skeletal muscle tissue
CleanExiHS_DYM
ExpressionAtlasiQ7RTS9 baseline and differential
GenevisibleiQ7RTS9 HS

Family and domain databases

InterProiView protein in InterPro
IPR019142 Dymeclin
PANTHERiPTHR12895 PTHR12895, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiDYM_HUMAN
AccessioniPrimary (citable) accession number: Q7RTS9
Secondary accession number(s): A8K5I8
, B2RCF9, B4DKI7, Q3ZTS8, Q6P2P5, Q8N2M0, Q9BVE9, Q9NPU7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 5, 2005
Last sequence update: December 15, 2003
Last modified: October 10, 2018
This is version 119 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
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