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Q9UMG1

- Q9UMG1_HUMAN

UniProt

Q9UMG1 - Q9UMG1_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

PRIDEiQ9UMG1.

Expressioni

Gene expression databases

ArrayExpressiQ9UMG1.
BgeeiQ9UMG1.

Structurei

3D structure databases

ProteinModelPortaliQ9UMG1.

Family & Domainsi

Family and domain databases

Gene3Di1.10.418.10. 1 hit.
InterProiIPR001715. CH-domain.
[Graphical view]
PfamiPF00307. CH. 1 hit.
[Graphical view]
SUPFAMiSSF47576. SSF47576. 1 hit.

Sequencei

Sequence statusi: Fragment.

Q9UMG1-1 [UniParc]FASTAAdd to Basket

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PDLFDWNSVV CQQSATQRLE HAFNIARYQL GIEKLLDPED VDTTYPDKKS    50
ILMYITSLFQ VLPQQVSIEA IQEVEMLPRP PKVTKEEHFQ LHHQMHYSQQ 100
ITVSLAQGYE RTSSPKPRFK SYAYTQAAYV TTSDPTRSPF PSQ 143
Length:143
Mass (Da):16,549
Last modified:May 1, 2000 - v1
Checksum:i090B8A5194BA4A15
GO

Non-terminal residue

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Non-terminal residuei1 – 11Imported
Non-terminal residuei143 – 1431Imported

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U60822 Genomic DNA. Translation: AAC51631.1.
UniGeneiHs.495912.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
U60822 Genomic DNA. Translation: AAC51631.1 .
UniGenei Hs.495912.

3D structure databases

ProteinModelPortali Q9UMG1.
ModBasei Search...
MobiDBi Search...

Proteomic databases

PRIDEi Q9UMG1.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Miscellaneous databases

ChiTaRSi DMD. human.

Gene expression databases

ArrayExpressi Q9UMG1.
Bgeei Q9UMG1.

Family and domain databases

Gene3Di 1.10.418.10. 1 hit.
InterProi IPR001715. CH-domain.
[Graphical view ]
Pfami PF00307. CH. 1 hit.
[Graphical view ]
SUPFAMi SSF47576. SSF47576. 1 hit.
ProtoNeti Search...

Publicationsi

  1. "The evolution of an intron: analysis of a long, deletion-prone intron in the human dystrophin gene."
    McNaughton J.C., Hughes G., Jones W.A., Stockwell P.A., Klamut H.J., Petersen G.B.
    Genomics 40:294-304(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE.

Entry informationi

Entry nameiQ9UMG1_HUMAN
AccessioniPrimary (citable) accession number: Q9UMG1
Entry historyi
Integrated into UniProtKB/TrEMBL: May 1, 2000
Last sequence update: May 1, 2000
Last modified: July 9, 2014
This is version 51 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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