Hvor er genet for dmd placeret, og hvad er produktet af dmd-genet?
Dystrophin
DMD








Tilgængelige strukturer


PDB
Ortholog søgning: PDBe RCSB





[show]Liste over PDB-id-koder



1DXX, 1EG3, 1EG3, 1EG4, 3UUN









Identifikatorer


Aliasser
DMD, BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, MRX85, dystrophin


Eksterne ID'er
OMIM: 300377 MGI: 94909 HomoloGene: 20856 GeneCards: DMD





[hide]Genplacering (menneske)





Chr.
X-kromosom (menneske)












Band
Xp21.2-p21.1
Start
31.097.677 bp


Slutning
33.339.441 bp








[show]Genplacering (mus)





Chr.
X-kromosom (mus)












Band
X C1|X 38,38 cM
Start
82 948 870 bp


Slutning
85.206.141 bp








[hide]RNA-ekspressionsmønster







Flere referenceekspressionsdata








[show]Genontologi


Molekylær funktion
- binding af nitrogenoxidsyntase
- binding af dystroglykan
- binding af vinculin
- myosinbinding
- binding af zink-ioner
- binding af metalioner
- proteinbinding
- aktinbinding
- strukturel bestanddel af muskler
- strukturel bestanddel af cytoskelettet


Cellulær komponent
- cytoplasma
- cytosol
- postsynaptisk membran
- lateral plasmamembran
- membran
- filopodium
- celle-substrat-grænseflade
- plasmamembran
- synapse
- dystrofin-associeret glykoproteinkompleks
- proteinkompleks
- celleoverflade
- celleforbindelse
- Z-skive
- aktincytoskelet
- membranflåde
- sarcolemma
- costamere
- syntrofin-kompleks
- neuronprojektionsterminus
- cytoskelet
- kerne
- filopodium-membran


Biologisk proces
- reaktion på muskelstræk
- regulering af aktivitet af ryanodin-følsomme calciumfrigivelseskanaler
- hjertemuskelcellens aktionspotentiale
- regulering af aktivitet af spændingsstyret calciumkanal
- hjertemuskelsammentrækning
- muskelcellens cellulære homøostase
- negativ regulering af peptidylcystein S-nitrosylering
- regulering af hjertemuskelkontraktion ved regulering af frigivelse af lagrede calciumioner
- peptidbiosyntetisk proces
- udvikling af muskelorganer
- samling af cellulære proteinkomplekser
- regulering af hjerterytme
- cellulær proteinlokalisering
- udvikling af muskelfibre
- positiv regulering af neurondifferentiering
- negativ regulering af peptidyl-serinfosforylering
- positiv regulering af udviklingen af neuronprojektion
- glidning af muskelfilamenter
- positiv regulering af aktiviteten af natrium-ion-transmembrantransporter
- regulering af cellens respons på stimulus af vækstfaktorer
- regulering af sarkoplasmatisk retikulums frigivelse af lagrede calciumioner til cytosol
- samling af bevægelige cilier
- regulering af skeletmuskulaturens sammentrækning
- regulering af skeletmuskelkontraktion ved regulering af frigivelse af lagrede calciumioner
- organisering af cytoskelettet


Kilder: Amigo / QuickGO





Orthologer


Arter
Menneske
Mus


Entrez







1756











13405






Ensembl







ENSG00000198947











ENSMUSG00000045103






UniProt







P11532











P11531






RefSeq (mRNA)



[vis]NM_000109
NM_004006
NM_004007
NM_004009
NM_004010



NM_004011
NM_004012
NM_004013
NM_004014
NM_004015
NM_004016
NM_004017
NM_004018
NM_004019
NM_004020
NM_004021
NM_004022
NM_004023







[show]NM_007868
NM_001314034
NM_001314035
NM_001314036
NM_001314037



NM_001314038






RefSeq (protein)



[vis]NP_000100
NP_003997
NP_004000
NP_004001
NP_004002



NP_004003
NP_004004
NP_004005
NP_004006
NP_004007
NP_004008
NP_004009
NP_004010
NP_004011
NP_004012
NP_004013
NP_004014







[show]NP_001300963
NP_001300964
NP_001300965
NP_001300966
NP_001300967



NP_031894






Beliggenhed (UCSC)
Chr X: 31.1 - 33.34 Mb
Chr X: 82,95 - 85,21 Mb


PubMed-søgning




Wikidata





Vis/rediger menneske
Vis/rediger mus
Dystrophin
DMD








Available structures


PDB
Ortholog search: PDBe RCSB





[show]List of PDB id codes



1DXX, 1EG3, 1EG4, 3UUN









Identifiers


Aliases
DMD, BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, MRX85, dystrophin


External IDs
OMIM: 300377 MGI: 94909 HomoloGene: 20856 GeneCards: DMD





[hide]Gene location (Human)





Chr.
X chromosome (human)












Band
Xp21.2-p21.1
Start
31,097,677 bp


End
33,339,441 bp








[show]Gene location (Mouse)





Chr.
X chromosome (mouse)












Band
X C1|X 38.38 cM
Start
82,948,870 bp


End
85,206,141 bp








[hide]RNA expression pattern







More reference expression data








[show]Gene ontology


Molecular function
• nitric-oxide synthase binding
• dystroglycan binding
• vinculin binding
• myosin binding
• zinc ion binding
• metal ion binding
• protein binding
• actin binding
• structural constituent of muscle
• structural constituent of cytoskeleton


Cellular component
• cytoplasm
• cytosol
• postsynaptic membrane
• lateral plasma membrane
• membrane
• filopodium
• cell-substrate junction
• plasma membrane
• synapse
• dystrophin-associated glycoprotein complex
• protein complex
• cell surface
• cell junction
• Z disc
• actin cytoskeleton
• membrane raft
• sarcolemma
• costamere
• syntrophin complex
• neuron projection terminus
• cytoskeleton
• nucleus
• filopodium membrane


Biological process
• response to muscle stretch
• regulation of ryanodine-sensitive calcium-release channel activity
• cardiac muscle cell action potential
• regulation of voltage-gated calcium channel activity
• cardiac muscle contraction
• muscle cell cellular homeostasis
• negative regulation of peptidyl-cysteine S-nitrosylation
• regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
• peptide biosynthetic process
• muscle organ development
• cellular protein complex assembly
• regulation of heart rate
• cellular protein localization
• muscle fiber development
• positive regulation of neuron differentiation
• negative regulation of peptidyl-serine phosphorylation
• positive regulation of neuron projection development
• muscle filament sliding
• positive regulation of sodium ion transmembrane transporter activity
• regulation of cellular response to growth factor stimulus
• regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
• motile cilium assembly
• regulation of skeletal muscle contraction
• regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion
• cytoskeleton organization


Sources:Amigo / QuickGO





Orthologs


Species
Human
Mouse


Entrez







1756











13405






Ensembl







ENSG00000198947











ENSMUSG00000045103






UniProt







P11532











P11531






RefSeq (mRNA)



[show]NM_000109
NM_004006
NM_004007
NM_004009
NM_004010



NM_004011
NM_004012
NM_004013
NM_004014
NM_004015
NM_004016
NM_004017
NM_004018
NM_004019
NM_004020
NM_004021
NM_004022
NM_004023







[show]NM_007868
NM_001314034
NM_001314035
NM_001314036
NM_001314037



NM_001314038






RefSeq (protein)



[show]NP_000100
NP_003997
NP_004000
NP_004001
NP_004002



NP_004003
NP_004004
NP_004005
NP_004006
NP_004007
NP_004008
NP_004009
NP_004010
NP_004011
NP_004012
NP_004013
NP_004014







[show]NP_001300963
NP_001300964
NP_001300965
NP_001300966
NP_001300967



NP_031894






Location (UCSC)
Chr X: 31.1 – 33.34 Mb
Chr X: 82.95 – 85.21 Mb


PubMed search




Wikidata





View/Edit Human
View/Edit Mouse
Dystrophin