Q7RTS9 (DYM_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Dymeclin

Alternative name(s):
Dyggve-Melchior-Clausen syndrome protein

Gene names

Name:

DYM

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	669 AA.
Sequence status	Complete.
Protein existence	Evidence 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 (SMC) [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. SMC 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 component	Cytoplasm Golgi apparatus
Coding sequence diversity	Alternative splicing
Disease	Disease mutation Dwarfism
PTM	Lipoprotein Myristate
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	Golgi organization Inferred from mutant phenotype Ref.8. Source: UniProtKB bone development Inferred from mutant phenotype Ref.8. Source: UniProtKB
Cellular_component	Golgi apparatus Inferred from direct assay Ref.8. Source: UniProtKB nucleus Inferred from direct assay. Source: HPA plasma membrane Inferred from direct assay. Source: HPA
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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 669	669	Dymeclin		PRO_0000086883
Amino acid modifications
	Lipidation	2	1	N-myristoyl glycine Probable
Natural variations
	Alternative sequence	65	1	V → A in isoform 2.		VSP_036442
	Alternative sequence	66 – 255	190	Missing in isoform 2.		VSP_036443
	Natural variant	87	1	E → K in SMC; does not affect protein localization. Ref.7 Ref.9		VAR_022740
	Natural variant	469	1	N → Y in DMC; results in protein mis-localization and aggregation. Ref.7 Ref.9		VAR_054499
	Natural variant	542	1	C → R in SMC. Ref.10		VAR_065293
Experimental info
	Mutagenesis	2	1	G → A: Does not affect protein localization to Golgi apparatus. Prevents myristoylation in vitro. Ref.7
	Sequence conflict	66	1	E → K in BAC11088. Ref.2
	Sequence conflict	249	1	L → P in BAC11088. Ref.2
	Sequence conflict	381	1	E → G in BAF83992. Ref.3
	Sequence conflict	408	1	D → Y in AAH64394. Ref.4
	Sequence conflict	453	1	R → K in BAF83992. Ref.3
	Sequence conflict	537	1	E → G in BAF83992. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 15, 2003. Version 1. Checksum: 7C8A216A09DBE43F	FASTA	669	75,935
	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
	Isoform 2 [UniParc]. Checksum: 1150D81BF01D76BC	FASTA	479	54,425
	10 20 30 40 50 60 MGSNSSRIGD LPKNEYLKKL SGTESISEND PFWNQLLSFS FPAPTSSSEL KLLEEATISV 70 80 90 100 110 120 CRSLAGLWTV FTLGGVGSKA AASPELSSPL ANQSLLLLLV LANLTDASDA PNPYRQAIMS 130 140 150 160 170 180 FKNTQDSSPF PSSIPHAFQI NFNSLYTALC EQQTSDQATL LLYTLLHQNS NIRTYMLART 190 200 210 220 230 240 DMENLVLPIL EILYHVEERN SHHVYMALII LLILTEDDGF NRSIHEVILK NITWYSERVL 250 260 270 280 290 300 TEISLGSLLI LVVIRTIQYN MTRTRDKYLH TNCLAALANM SAQFRSLHQY AAQRIISLFS 310 320 330 340 350 360 LLSKKHNKVL EQATQSLRGS LSSNDVPLPD YAQDLNVIEE VIRMMLEIIN SCLTNSLHHN 370 380 390 400 410 420 PNLVYALLYK RDLFEQFRTH PSFQDIMQNI DLVISFFSSR LLQAGAELSV ERVLEIIKQG 430 440 450 460 470 VVALPKDRLK KFPELKFKYV EEEQPEEFFI PYVWSLVYNS AVGLYWNPQD IQLFTMDSD

References

	« Hide 'large scale' referencesShow '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. , 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. , 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 SMC 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 SMC 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 SMC 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.
IPI	IPI00296211. IPI00921973.
RefSeq	NP_060123.3. NM_017653.3.
UniGene	Hs.162996.
3D structure databases
ProteinModelPortal	Q7RTS9.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q7RTS9. 1 interaction.
PTM databases
PhosphoSite	Q7RTS9.
Polymorphism databases
DMDM	68565365.
Proteomic databases
PaxDb	Q7RTS9.
PRIDE	Q7RTS9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000269445; ENSP00000269445; ENSG00000141627. ENST00000442713; ENSP00000395942; ENSG00000141627.
GeneID	54808.
KEGG	hsa:54808.
UCSC	uc002ldi.1. human. uc010xdf.1. human.
Organism-specific databases
CTD	54808.
GeneCards	GC18M046570.
HGNC	HGNC:21317. DYM.
HPA	HPA043551.
MIM	223800. phenotype. 607326. phenotype. 607461. gene.
neXtProt	NX_Q7RTS9.
Orphanet	239. Dyggve-Melchior-Clausen disease. 178355. Smith-McCort dysplasia.
PharmGKB	PA134879547.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG308890.
HOVERGEN	HBG057356.
InParanoid	Q7RTS9.
OMA	NVRTYML.
OrthoDB	EOG4G1MFZ.
Gene expression databases
ArrayExpress	Q7RTS9.
Bgee	Q7RTS9.
CleanEx	HS_DYM.
Genevestigator	Q7RTS9.
GermOnline	ENSG00000141627. Homo sapiens.
Family and domain databases
InterPro	IPR019142. Dymeclin. [Graphical view]
Pfam	PF09742. Dymeclin. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	DYM. human.
GenomeRNAi	54808.
NextBio	57521.
SOURCE	Search...

Entry information

Entry name

DYM_HUMAN

Accession

Primary (citable) accession number: Q7RTS9
Secondary accession number(s): A8K5I8 , 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:	May 1, 2013
This is version 77 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.