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Q8WYF0

- Q8WYF0_HUMAN

UniProt

Q8WYF0 - Q8WYF0_HUMAN

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Protein
Submitted name: Duchenne muscular dystrophy gene
Gene
DMD
Organism
Homo sapiens (Human)
Status
Unreviewed - Annotation score: 4 out of 5 - Protein predictedi

Functioni

GO - Biological processi

  1. cardiac muscle cell action potential Source: Ensembl
  2. cellular protein complex assembly Source: Ensembl
  3. cellular protein localization Source: Ensembl
  4. establishment of blood-nerve barrier Source: Ensembl
  5. establishment of glial blood-brain barrier Source: Ensembl
  6. muscle cell cellular homeostasis Source: Ensembl
  7. muscle fiber development Source: Ensembl
  8. myotube cell development Source: Ensembl
  9. negative regulation of peptidyl-cysteine S-nitrosylation Source: Ensembl
  10. negative regulation of peptidyl-serine phosphorylation Source: Ensembl
  11. neurotransmitter receptor metabolic process Source: Ensembl
  12. nucleus localization Source: Ensembl
  13. olfactory nerve structural organization Source: Ensembl
  14. positive regulation of cell-matrix adhesion Source: Ensembl
  15. positive regulation of sodium ion transmembrane transporter activity Source: Ensembl
  16. regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion Source: Ensembl
  17. regulation of heart rate Source: Ensembl
  18. regulation of ryanodine-sensitive calcium-release channel activity Source: Ensembl
  19. regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion Source: Ensembl
  20. regulation of transcription, DNA-templated Source: Ensembl
  21. regulation of voltage-gated calcium channel activity Source: Ensembl
  22. skeletal muscle tissue development Source: Ensembl
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Submitted name:
Duchenne muscular dystrophy geneImported
Submitted name:
DystrophinImported
Gene namesi
Name:DMDImported
OrganismiHomo sapiens (Human)Imported
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Subcellular locationi

GO - Cellular componenti

  1. Z disc Source: Ensembl
  2. cell-substrate junction Source: Ensembl
  3. dystrophin-associated glycoprotein complex Source: Ensembl
  4. membrane raft Source: Ensembl
  5. neuron projection terminus Source: Ensembl
  6. sarcolemma Source: Ensembl
  7. synapse Source: Ensembl
Complete GO annotation...

PTM / Processingi

Proteomic databases

PRIDEiQ8WYF0.

Expressioni

Gene expression databases

ArrayExpressiQ8WYF0.
BgeeiQ8WYF0.

Sequencei

Sequence statusi: Fragment.

Q8WYF0-1 [UniParc]FASTAAdd to Basket

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VDTTYPDKKS ILMYITSLFQ VLPQQVSIEA IQEVEMLPRP PKVTKEEHFQ   50
LHHQMHYSQQ 60
Length:60
Mass (Da):7,137
Last modified:March 1, 2002 - v1
Checksum:i5DA95C89D1E3543A
GO

Non-terminal residue

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Non-terminal residuei1 – 11Imported
Non-terminal residuei60 – 601Imported

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF213408 Genomic DNA. Translation: AAL61556.1.
X06293 Genomic DNA. Translation: CAE82077.1.
UniGeneiHs.495912.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF213408 Genomic DNA. Translation: AAL61556.1 .
X06293 Genomic DNA. Translation: CAE82077.1 .
UniGenei Hs.495912.

3D structure databases

ModBasei Search...
MobiDBi Search...

Proteomic databases

PRIDEi Q8WYF0.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Miscellaneous databases

ChiTaRSi DMD. human.

Gene expression databases

ArrayExpressi Q8WYF0.
Bgeei Q8WYF0.

Family and domain databases

ProtoNeti Search...

Publicationsi

  1. "A 230kb cosmid walk in the Duchenne muscular dystrophy gene: detection of a conserved sequence and of a possible deletion prone region."
    Heilig R., Lemaire C., Mandel J.L.
    Nucleic Acids Res. 15:9129-9142(1987) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE.
  2. den Dunnen J.T.
    Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE.

Entry informationi

Entry nameiQ8WYF0_HUMAN
AccessioniPrimary (citable) accession number: Q8WYF0
Entry historyi
Integrated into UniProtKB/TrEMBL: March 1, 2002
Last sequence update: March 1, 2002
Last modified: July 9, 2014
This is version 49 of the entry and version 1 of the sequence. [Complete history]
Entry statusiUnreviewed (UniProtKB/TrEMBL)
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.

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