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Q548X2

- Q548X2_HUMAN

UniProt

Q548X2 - Q548X2_HUMAN

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Protein
Submitted name:

Dystrophin

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:
DystrophinImported
Gene namesi
Name:DMDImported
OrganismiHomo sapiens (Human)Imported
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Subcellular locationi

GO - Cellular componenti

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

PTM / Processingi

Proteomic databases

PRIDEiQ548X2.

Expressioni

Gene expression databases

BgeeiQ548X2.
ExpressionAtlasiQ548X2. baseline and differential.

Sequencei

Sequence statusi: Fragment.

Q548X2-1 [UniParc]FASTAAdd to Basket

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        10         20         30         40         50
ISQAVTTTQP SLTQTTVMET VTTVTTREQI LVKHAQEELP PPPPQKKRQI

TVDSEIRK
Length:58
Mass (Da):6,511
Last modified:May 24, 2005 - v1
Checksum:i4455293F43C21046
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Non-terminal residuei1 – 11Imported
Non-terminal residuei58 – 581Imported

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF213416 Genomic DNA. Translation: AAL61563.1.
UniGeneiHs.495912.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF213416 Genomic DNA. Translation: AAL61563.1 .
UniGenei Hs.495912.

3D structure databases

ModBasei Search...
MobiDBi Search...

Proteomic databases

PRIDEi Q548X2.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Miscellaneous databases

ChiTaRSi DMD. human.

Gene expression databases

Bgeei Q548X2.
ExpressionAtlasi Q548X2. baseline and differential.

Family and domain databases

ProtoNeti Search...

Publicationsi

  1. Beggs A.H., Koenig M., Kunkel L.M.
    Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases
    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 nameiQ548X2_HUMAN
AccessioniPrimary (citable) accession number: Q548X2
Entry historyi
Integrated into UniProtKB/TrEMBL: May 24, 2005
Last sequence update: May 24, 2005
Last modified: October 29, 2014
This is version 40 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.