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Q7RTS9 (DYM_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 85. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Dymeclin
Alternative name(s):
Dyggve-Melchior-Clausen syndrome protein
Gene names
Name:DYM
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length669 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Necessary for correct organization of Golgi apparatus. Involved in bone development. Ref.8

Subunit structure

Interacts with GOLM1 and PPIB. Ref.8

Subcellular location

Cytoplasm. Golgi apparatus. Note: Sequence analysis programs clearly predict 1 transmembrane region. However, Ref.7 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. Ref.7 Ref.8

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. Ref.1 Ref.7

Post-translational modification

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

Involvement in 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.7 Ref.9

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7 Ref.9 Ref.10

Sequence similarities

Belongs to the dymeclin family.

Ontologies

Keywords
   Cellular componentCytoplasm
Golgi apparatus
   Coding sequence diversityAlternative splicing
   DiseaseDisease mutation
Dwarfism
   PTMLipoprotein
Myristate
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processGolgi organization

Inferred from mutant phenotype Ref.8. Source: UniProtKB

bone development

Inferred from mutant phenotype Ref.8. Source: UniProtKB

   Cellular_componentGolgi apparatus

Inferred from direct assay Ref.8. Source: UniProtKB

cytoplasm

Inferred from direct assay Ref.8. Source: UniProtKB

   Molecular_functionenzyme binding

Inferred from physical interaction Ref.8. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q7RTS9-1)

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.
Isoform 2 (identifier: Q7RTS9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     65-65: V → A
     66-255: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Probable
Chain2 – 669668Dymeclin
PRO_0000086883

Amino acid modifications

Lipidation21N-myristoyl glycine Probable

Natural variations

Alternative sequence651V → A in isoform 2.
VSP_036442
Alternative sequence66 – 255190Missing in isoform 2.
VSP_036443
Natural variant871E → K in SMC1; does not affect protein localization. Ref.7 Ref.9
VAR_022740
Natural variant4691N → Y in DMC; results in protein mis-localization and aggregation. Ref.7 Ref.9
VAR_054499
Natural variant5421C → R in SMC1. Ref.10
VAR_065293

Experimental info

Mutagenesis21G → A: Does not affect protein localization to Golgi apparatus. Prevents myristoylation in vitro. Ref.7
Sequence conflict661E → K in BAC11088. Ref.2
Sequence conflict2491L → P in BAC11088. Ref.2
Sequence conflict3811E → G in BAF83992. Ref.3
Sequence conflict4081D → Y in AAH64394. Ref.4
Sequence conflict4531R → K in BAF83992. Ref.3
Sequence conflict5371E → G in BAF83992. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 15, 2003. Version 1.
Checksum: 7C8A216A09DBE43F

FASTA66975,935
        10         20         30         40         50         60 
MGSNSSRIGD LPKNEYLKKL SGTESISEND PFWNQLLSFS FPAPTSSSEL KLLEEATISV 

        70         80         90        100        110        120 
CRSLVENNPR TGNLGALIKV FLSRTKELKL SAECQNHIFI WQTHNALFII CCLLKVFICQ 

       130        140        150        160        170        180 
MSEEELQLHF TYEEKSPGNY SSDSEDLLEE LLCCLMQLIT DIPLLDITYE ISVEAISTMV 

       190        200        210        220        230        240 
VFLSCQLFHK EVLRQSISHK YLMRGPCLPY TSKLVKTLLY NFIRQEKPPP PGAHVFPQQS 

       250        260        270        280        290        300 
DGGGLLYGLA SGVATGLWTV FTLGGVGSKA AASPELSSPL ANQSLLLLLV LANLTDASDA 

       310        320        330        340        350        360 
PNPYRQAIMS FKNTQDSSPF PSSIPHAFQI NFNSLYTALC EQQTSDQATL LLYTLLHQNS 

       370        380        390        400        410        420 
NIRTYMLART DMENLVLPIL EILYHVEERN SHHVYMALII LLILTEDDGF NRSIHEVILK 

       430        440        450        460        470        480 
NITWYSERVL TEISLGSLLI LVVIRTIQYN MTRTRDKYLH TNCLAALANM SAQFRSLHQY 

       490        500        510        520        530        540 
AAQRIISLFS LLSKKHNKVL EQATQSLRGS LSSNDVPLPD YAQDLNVIEE VIRMMLEIIN 

       550        560        570        580        590        600 
SCLTNSLHHN PNLVYALLYK RDLFEQFRTH PSFQDIMQNI DLVISFFSSR LLQAGAELSV 

       610        620        630        640        650        660 
ERVLEIIKQG VVALPKDRLK KFPELKFKYV EEEQPEEFFI PYVWSLVYNS AVGLYWNPQD 


IQLFTMDSD 

« Hide

Isoform 2 [UniParc].

Checksum: 1150D81BF01D76BC
Show »

FASTA47954,425

References

« Hide 'large scale' references
[1]"Mutations in a novel gene dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome."
El Ghouzzi V., Dagoneau N., Kinning E., Thauvin-Robinet C., Chemaitilly W., Prost-Squarcioni C., Al-Gazali L.I., Verloes A., Le Merrer M., Munnich A., Trembath R.C., Cormier-Daire V.
Hum. Mol. Genet. 12:357-364(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], INVOLVEMENT IN DMC, TISSUE SPECIFICITY.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
Tissue: Cervix, Testis and Tongue.
[3]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain and Cervix.
[5]"Characterization of human proteins containing evolutionary conserved domains of unknown function."
Kemmer D., Podowski R., Hodges E., Roth P., Lenhard B., Sonnhammer E.L.L., Wasserman W.W., Hoog C.
Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-524 (ISOFORM 1).
[6]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 446-669.
Tissue: Melanoma.
[7]"The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus."
Dimitrov A., Paupe V., Gueudry C., Sibarita J.-B., 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. 18:440-453(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION, MYRISTOYLATION AT GLY-2, MUTAGENESIS OF GLY-2, CHARACTERIZATION OF VARIANT SMC1 LYS-87, CHARACTERIZATION OF VARIANT DMC TYR-469.
[8]"Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and Golgi organization and is associated with protein secretion pathways critical in bone development."
Denais C., Dent C.L., Southgate L., Hoyle J., Dafou D., Trembath R.C., Machado R.D.
Hum. Mutat. 32:231-239(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH GOLM1 AND PPIB, INVOLVEMENT IN DCM.
[9]"Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene."
Cohn D.H., Ehtesham N., Krakow D., Unger S., Shanske A., Reinker K., Powell B.R., Rimoin D.L.
Am. J. Hum. Genet. 72:419-428(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT DMC TYR-469, VARIANT SMC1 LYS-87.
[10]"Portuguese case of Smith-McCort syndrome caused by a new mutation in the dymeclin (FLJ20071) gene."
Santos H.G., Fernandes H.C., Nunes J.L., Almeida M.R.
Clin. Dysmorphol. 18:41-44(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SMC1 ARG-542.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_060123.3. NM_017653.3.
UniGeneHs.162996.

3D structure databases

ProteinModelPortalQ7RTS9.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120165. 1 interaction.
IntActQ7RTS9. 1 interaction.

PTM databases

PhosphoSiteQ7RTS9.

Polymorphism databases

DMDM68565365.

Proteomic databases

PaxDbQ7RTS9.
PRIDEQ7RTS9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000269445; ENSP00000269445; ENSG00000141627. [Q7RTS9-1]
ENST00000442713; ENSP00000395942; ENSG00000141627. [Q7RTS9-2]
GeneID54808.
KEGGhsa:54808.
UCSCuc002ldi.1. human. [Q7RTS9-1]
uc010xdf.1. human. [Q7RTS9-2]

Organism-specific databases

CTD54808.
GeneCardsGC18M046570.
HGNCHGNC:21317. DYM.
HPAHPA043551.
HPA049187.
MIM223800. phenotype.
607326. phenotype.
607461. gene.
neXtProtNX_Q7RTS9.
Orphanet239. Dyggve-Melchior-Clausen disease.
178355. Smith-McCort dysplasia.
PharmGKBPA134879547.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG308890.
HOVERGENHBG057356.
InParanoidQ7RTS9.
OMANVRTYML.
OrthoDBEOG72ZCG2.
PhylomeDBQ7RTS9.
TreeFamTF314870.

Gene expression databases

ArrayExpressQ7RTS9.
BgeeQ7RTS9.
CleanExHS_DYM.
GenevestigatorQ7RTS9.

Family and domain databases

InterProIPR019142. Dymeclin.
[Graphical view]
PfamPF09742. Dymeclin. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSDYM. human.
GeneWikiDYM.
GenomeRNAi54808.
NextBio57521.
PROQ7RTS9.
SOURCESearch...

Entry information

Entry nameDYM_HUMAN
AccessionPrimary (citable) accession number: Q7RTS9
Secondary accession number(s): A8K5I8 expand/collapse secondary AC list , B2RCF9, B4DKI7, Q3ZTS8, Q6P2P5, Q8N2M0, Q9BVE9, Q9NPU7
Entry history
Integrated into UniProtKB/Swiss-Prot: July 5, 2005
Last sequence update: December 15, 2003
Last modified: April 16, 2014
This is version 85 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 18

Human chromosome 18: entries, gene names and cross-references to MIM