UniProtKB - Q7RTS9 (DYM_HUMAN)

BLAST

>sp|Q7RTS9|DYM_HUMAN Dymeclin OS=Homo sapiens OX=9606 GN=DYM PE=1 SV=1
MGSNSSRIGDLPKNEYLKKLSGTESISENDPFWNQLLSFSFPAPTSSSELKLLEEATISV
CRSLVENNPRTGNLGALIKVFLSRTKELKLSAECQNHIFIWQTHNALFIICCLLKVFICQ
MSEEELQLHFTYEEKSPGNYSSDSEDLLEELLCCLMQLITDIPLLDITYEISVEAISTMV
VFLSCQLFHKEVLRQSISHKYLMRGPCLPYTSKLVKTLLYNFIRQEKPPPPGAHVFPQQS
DGGGLLYGLASGVATGLWTVFTLGGVGSKAAASPELSSPLANQSLLLLLVLANLTDASDA
PNPYRQAIMSFKNTQDSSPFPSSIPHAFQINFNSLYTALCEQQTSDQATLLLYTLLHQNS
NIRTYMLARTDMENLVLPILEILYHVEERNSHHVYMALIILLILTEDDGFNRSIHEVILK
NITWYSERVLTEISLGSLLILVVIRTIQYNMTRTRDKYLHTNCLAALANMSAQFRSLHQY
AAQRIISLFSLLSKKHNKVLEQATQSLRGSLSSNDVPLPDYAQDLNVIEEVIRMMLEIIN
SCLTNSLHHNPNLVYALLYKRDLFEQFRTHPSFQDIMQNIDLVISFFSSRLLQAGAELSV
ERVLEIIKQGVVALPKDRLKKFPELKFKYVEEEQPEEFFIPYVWSLVYNSAVGLYWNPQD
IQLFTMDSD

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History
Entry version 119 (10 Oct 2018)
Sequence version 1 (15 Dec 2003)
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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
Inferred from physical interactionⁱ
- 21280149

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

bone development
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 21280149
Golgi organization
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 21280149

View the complete GO annotation on QuickGO ...

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Dymeclin Alternative name(s): Dyggve-Melchior-Clausen syndrome protein
Gene namesⁱ	Name:DYM
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 18

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000141627.13
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:21317 DYM
MIMⁱ	607461 gene
neXtProtⁱ	NX_Q7RTS9

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.

Feature 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 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.

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 mutation, Dwarfism

Organism-specific databases

DisGeNET More...DisGeNETⁱ	54808
MalaCards human disease database More...MalaCardsⁱ	DYM
MIMⁱ	223800 phenotype 607326 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000141627
Orphanetⁱ	239 Dyggve-Melchior-Clausen disease 178355 Smith-McCort dysplasia
PharmGKBⁱ	PA134879547

Polymorphism and mutation 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, Myristate

Proteomic databases

EPDⁱ	Q7RTS9
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	Q7RTS9
PaxDbⁱ	Q7RTS9
PeptideAtlas More...PeptideAtlasⁱ	Q7RTS9
PRIDEⁱ	Q7RTS9
ProteomicsDBⁱ	68896 68897 [Q7RTS9-2]

PTM databases

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 195 organ(s), highest expression level in skeletal muscle tissue
CleanExⁱ	HS_DYM
ExpressionAtlasⁱ	Q7RTS9 baseline and differential
Genevisibleⁱ	Q7RTS9 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA043551 HPA049187

HPAⁱ

HPA043551
HPA049187

Interactionⁱ

Subunit structureⁱ

Interacts with GOLM1 and PPIB.1 Publication

GO - Molecular functionⁱ

enzyme binding
Source: UniProtKB
Inferred from physical interactionⁱ
- 21280149

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	120165, 23 interactors
ELMⁱ	Q7RTS9
IntActⁱ	Q7RTS9, 1 interactor
STRINGⁱ	9606.ENSP00000269445

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q7RTS9
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Sequence similaritiesⁱ

Belongs to the dymeclin family.Curated

Phylogenomic databases

eggNOGⁱ	KOG2225 Eukaryota ENOG410XP0J LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000008772
HOVERGENⁱ	HBG057356
InParanoidⁱ	Q7RTS9
OMAⁱ	IQYNMLK
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G031X
PhylomeDBⁱ	Q7RTS9
TreeFamⁱ	TF314870

Family and domain databases

InterProⁱ	View protein in InterPro IPR019142 Dymeclin
PANTHERⁱ	PTHR12895 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. Align Add to basket

This entry has 2 described isoforms and 10 potential isoforms that are computationally mapped.Show all Align All

Isoform 1 (identifier: Q7RTS9-1) [UniParc]FASTA Add 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

Isoform 2 (identifier: Q7RTS9-2) [UniParc]FASTA Add to basket

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

« Hide

        10         20         30         40         50
MGSNSSRIGD LPKNEYLKKL SGTESISEND PFWNQLLSFS FPAPTSSSEL 
        60         70         80         90        100
KLLEEATISV CRSLAGLWTV FTLGGVGSKA AASPELSSPL ANQSLLLLLV 
       110        120        130        140        150
LANLTDASDA PNPYRQAIMS FKNTQDSSPF PSSIPHAFQI NFNSLYTALC 
       160        170        180        190        200
EQQTSDQATL LLYTLLHQNS NIRTYMLART DMENLVLPIL EILYHVEERN 
       210        220        230        240        250
SHHVYMALII LLILTEDDGF NRSIHEVILK NITWYSERVL TEISLGSLLI 
       260        270        280        290        300
LVVIRTIQYN MTRTRDKYLH TNCLAALANM SAQFRSLHQY AAQRIISLFS 
       310        320        330        340        350
LLSKKHNKVL EQATQSLRGS LSSNDVPLPD YAQDLNVIEE VIRMMLEIIN 
       360        370        380        390        400
SCLTNSLHHN PNLVYALLYK RDLFEQFRTH PSFQDIMQNI DLVISFFSSR 
       410        420        430        440        450
LLQAGAELSV ERVLEIIKQG VVALPKDRLK KFPELKFKYV EEEQPEEFFI 
       460        470 
PYVWSLVYNS AVGLYWNPQD IQLFTMDSD

Note: No experimental confirmation available.

Show »

Length:479

Mass (Da):54,425

Checksum:ⁱ1150D81BF01D76BC

Computationally mapped potential isoform sequencesⁱ

There are 10 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

J3KRG4	J3KRG4_HUMAN	Dymeclin Dymeclin	DYM	163	Annotation score:
J3QSE7	J3QSE7_HUMAN	Dymeclin Dymeclin	DYM	141	Annotation score:
J3KSU8	J3KSU8_HUMAN	Dymeclin Dymeclin	DYM	122	Annotation score:
J3QR81	J3QR81_HUMAN	Dymeclin Dymeclin	DYM	109	Annotation score:
J3QQT7	J3QQT7_HUMAN	Dymeclin Dymeclin	DYM	116	Annotation score:
J3QRF2	J3QRF2_HUMAN	Dymeclin Dymeclin	DYM	142	Annotation score:
J3KSF9	J3KSF9_HUMAN	Dymeclin Dymeclin	DYM	139	Annotation score:
J3QRD8	J3QRD8_HUMAN	Dymeclin Dymeclin	DYM	67	Annotation score:
J3KTF2	J3KTF2_HUMAN	Dymeclin Dymeclin	DYM	74	Annotation score:
E9PG80	E9PG80_HUMAN	Dymeclin Dymeclin	DYM	39	Annotation score:

Experimental Info

Feature key	Position(s)	DescriptionActions	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	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:rs120074165EnsemblClinVar.	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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS11937.1 [Q7RTS9-1]
NCBI Reference Sequences More...RefSeqⁱ	NP_060123.3, NM_017653.3 [Q7RTS9-1]
UniGeneⁱ	Hs.162996 Hs.592921

Genome annotation databases

Ensemblⁱ	ENST00000269445; ENSP00000269445; ENSG00000141627 [Q7RTS9-1] ENST00000442713; ENSP00000395942; ENSG00000141627 [Q7RTS9-2]
GeneIDⁱ	54808
KEGGⁱ	hsa:54808
UCSC genome browser More...UCSCⁱ	uc002ldi.2 human [Q7RTS9-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q7RTS9	DYM isoform 2		PANTR		669	UniRef100_Q7RTS9
Q7RTS9-2	DYM isoform 4		PANTR		479	UniRef100_A0A2I3T6P3

Protein	Similar proteins		Species	Score	Length	Source
Q7RTS9	Dymeclin		PONAB		669	UniRef90_Q7RTS9
DYM isoform 2		PANTR		669
Uncharacterized protein		MUSPF		669
Dymeclin		BOVIN		669
Dymeclin (Fragment)		wild yak		669
+135
Q7RTS9-2	Uncharacterized protein		RHIRO		403	UniRef90_A0A2K6NF57
DYM isoform 4		PANTR		479
Dymeclin		SAIBB		479
Dymeclin		CALJA		479
Uncharacterized protein		MACMU		479
+12

Protein	Similar proteins		Species	Score	Length	Source
Q7RTS9	Dymeclin		PONAB		669	UniRef50_Q7RTS9
Dymeclin		XENLA		669
Dymeclin		XENTR		669
DYM isoform 2		PANTR		669
Uncharacterized protein		AOTNA		669
+195
Q7RTS9-2	Dymeclin		SARHA		518	UniRef50_G3VDS1
Uncharacterized protein (Fragment)		GAMAF		521
Dymeclin		GASAC		426
Dymeclin		AMAAE		487
Dymeclin (Fragment)		NESNO		486
+50

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]
UniGeneⁱ	Hs.162996 Hs.592921

3D structure databases

ProteinModelPortalⁱ	Q7RTS9
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	120165, 23 interactors
ELMⁱ	Q7RTS9
IntActⁱ	Q7RTS9, 1 interactor
STRINGⁱ	9606.ENSP00000269445

PTM databases

iPTMnetⁱ	Q7RTS9
PhosphoSitePlusⁱ	Q7RTS9

Polymorphism and mutation databases

BioMutaⁱ	DYM
DMDMⁱ	68565365

Proteomic databases

EPDⁱ	Q7RTS9
MaxQBⁱ	Q7RTS9
PaxDbⁱ	Q7RTS9
PeptideAtlasⁱ	Q7RTS9
PRIDEⁱ	Q7RTS9
ProteomicsDBⁱ	68896 68897 [Q7RTS9-2]

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000269445; ENSP00000269445; ENSG00000141627 [Q7RTS9-1] ENST00000442713; ENSP00000395942; ENSG00000141627 [Q7RTS9-2]
GeneIDⁱ	54808
KEGGⁱ	hsa:54808
UCSCⁱ	uc002ldi.2 human [Q7RTS9-1]

Organism-specific databases

CTDⁱ	54808
DisGeNETⁱ	54808
EuPathDBⁱ	HostDB:ENSG00000141627.13
GeneCardsⁱ	DYM
HGNCⁱ	HGNC:21317 DYM
HPAⁱ	HPA043551 HPA049187
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
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG2225 Eukaryota ENOG410XP0J LUCA
GeneTreeⁱ	ENSGT00390000008772
HOVERGENⁱ	HBG057356
InParanoidⁱ	Q7RTS9
OMAⁱ	IQYNMLK
OrthoDBⁱ	EOG091G031X
PhylomeDBⁱ	Q7RTS9
TreeFamⁱ	TF314870

Miscellaneous databases

ChiTaRSⁱ	DYM human
GeneWikiⁱ	DYM
GenomeRNAiⁱ	54808
Protein Ontology More...PROⁱ	PR:Q7RTS9
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000141627 Expressed in 195 organ(s), highest expression level in skeletal muscle tissue
CleanExⁱ	HS_DYM
ExpressionAtlasⁱ	Q7RTS9 baseline and differential
Genevisibleⁱ	Q7RTS9 HS

Family and domain databases

InterProⁱ	View protein in InterPro IPR019142 Dymeclin
PANTHERⁱ	PTHR12895 PTHR12895, 1 hit
ProtoNetⁱ	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:	October 10, 2018
	This is version 119 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

Complete proteome, Reference proteome

Documents

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

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UniProtKB - Q7RTS9 (DYM_HUMAN)

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Dymeclin

DYM

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Golgi apparatus

Other locations

Golgi apparatus

Other locations

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ