DYM

Protein identityUniProt · HPA

UniProt accession

Q7RTS9

Gene

DYM

Ensembl

ENSG00000141627

Chromosome

18

Canonical length

669 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Golgi apparatus

OverviewNCBI Gene

This gene encodes a protein which regulates Golgi-associated secretory pathways that are essential to endochondral bone formation during early development. This gene is also believed to play a role in early brain development. This gene is widely expressed in embryos and is particularly abundant in chodrocytes and brain tissues. It encodes a peripheral membrane protein which shuttles between the cytosol and Golgi complex. Mutations in this gene are associated with two types of recessive osteochondrodysplasia: Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia. [provided by RefSeq, Jun 2017]

Canonical amino-acid sequenceUniProt

669 residues, UniProt reviewed canonical sequence.

>Q7RTS9|DYM
     1  MGSNSSRIGD LPKNEYLKKL SGTESISEND PFWNQLLSFS FPAPTSSSEL KLLEEATISV
    61  CRSLVENNPR TGNLGALIKV FLSRTKELKL SAECQNHIFI WQTHNALFII CCLLKVFICQ
   121  MSEEELQLHF TYEEKSPGNY SSDSEDLLEE LLCCLMQLIT DIPLLDITYE ISVEAISTMV
   181  VFLSCQLFHK EVLRQSISHK YLMRGPCLPY TSKLVKTLLY NFIRQEKPPP PGAHVFPQQS
   241  DGGGLLYGLA SGVATGLWTV FTLGGVGSKA AASPELSSPL ANQSLLLLLV LANLTDASDA
   301  PNPYRQAIMS FKNTQDSSPF PSSIPHAFQI NFNSLYTALC EQQTSDQATL LLYTLLHQNS
   361  NIRTYMLART DMENLVLPIL EILYHVEERN SHHVYMALII LLILTEDDGF NRSIHEVILK
   421  NITWYSERVL TEISLGSLLI LVVIRTIQYN MTRTRDKYLH TNCLAALANM SAQFRSLHQY
   481  AAQRIISLFS LLSKKHNKVL EQATQSLRGS LSSNDVPLPD YAQDLNVIEE VIRMMLEIIN
   541  SCLTNSLHHN PNLVYALLYK RDLFEQFRTH PSFQDIMQNI DLVISFFSSR LLQAGAELSV
   601  ERVLEIIKQG VVALPKDRLK KFPELKFKYV EEEQPEEFFI PYVWSLVYNS AVGLYWNPQD
   661  IQLFTMDSD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DYM can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.27

Highest tissue expression

76 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DYM.

Disease | AllUniProt

Conditions DYM is implicated in, by any mechanism.

• Dyggve-Melchior-Clausen syndrome (DMC) MIM:223800
• Smith-McCort dysplasia 1 (SMC1) MIM:607326

Disease | GeneticClinVar

54 pathogenic / likely-pathogenic of 392 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Dyggve-Melchior-Clausen syndrome
• Smith-McCort dysplasia 1
• DYM-related disorder
• Inborn genetic diseases
• Early-onset non-syndromic cataract

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.91

gnomAD pLI

0

gnomAD missense Z

0.24

DepMap mean gene effect

-0.04

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• bone development
• Golgi organization

Molecular functions

• enzyme binding

Cellular components

• cytoplasm
• Golgi apparatus
• membrane

Protein domainsUniProt · Pfam · InterPro

• Dymeclin
• Dyggve-Melchior-Clausen syndrome protein

KeywordsUniProt

• Cytoplasm
• Dwarfism
• Golgi apparatus
• Lipoprotein
• Membrane
• Myristate

InteractionsUniProt · HPA

Protein binding partners of DYM in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• GOLM1
• PPIB