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Q14172

- Q14172_HUMAN

UniProt

Q14172 - Q14172_HUMAN

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Protein
Submitted name:

Duchenne muscular dystrophy protein

Gene
DMD
Organism
Homo sapiens (Human)
Status
Unreviewed - Annotation score: 1 out of 5 - Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Submitted name:
Duchenne muscular dystrophy proteinImported
Submitted name:
DystrophinImported
Gene namesi
Name:DMDImported
OrganismiHomo sapiens (Human)Imported
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:2928. DMD.

Structurei

3D structure databases

ProteinModelPortaliQ14172.

Family & Domainsi

Family and domain databases

InterProiIPR001589. Actinin_actin-bd_CS.
IPR001715. CH-domain.
IPR002017. Spectrin_repeat.
[Graphical view]
PfamiPF00435. Spectrin. 1 hit.
[Graphical view]
SUPFAMiSSF47576. SSF47576. 1 hit.
PROSITEiPS00019. ACTININ_1. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Fragment.

Q14172-1 [UniParc]FASTAAdd to Basket

« Hide

MLWWEEVEDC YEREDVQKKT FTKWVNAQFS KATQKEIEKQ KVHLKSITEV    50
GEALKTVLGK KETLVEDKLS LLNSNWIAVT SRAEEWLNLL LEYQKHMETF 100
D 101
Length:101
Mass (Da):12,034
Last modified:November 1, 1996 - v1
Checksum:iC1A01088B137895F
GO

Non-terminal residue

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Non-terminal residuei101 – 1011Imported

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AC004468 Genomic DNA. No translation available.
AC006061 Genomic DNA. No translation available.
AC078957 Genomic DNA. No translation available.
AC078958 Genomic DNA. No translation available.
AC079143 Genomic DNA. No translation available.
AC079175 Genomic DNA. No translation available.
AC079177 Genomic DNA. No translation available.
AC079864 Genomic DNA. No translation available.
AC090632 Genomic DNA. No translation available.
AC093167 Genomic DNA. No translation available.
AC093193 Genomic DNA. No translation available.
AC096506 Genomic DNA. No translation available.
AL031542 Genomic DNA. No translation available.
AL031643 Genomic DNA. No translation available.
AL049643 Genomic DNA. No translation available.
AL050305 Genomic DNA. No translation available.
AL096699 Genomic DNA. No translation available.
AL109609 Genomic DNA. No translation available.
AL121880 Genomic DNA. No translation available.
AL139278 Genomic DNA. No translation available.
AL139401 Genomic DNA. No translation available.
AL451144 Genomic DNA. No translation available.
AL596023 Genomic DNA. No translation available.
M63073 mRNA. Translation: AAA52313.1.
PIRiI65644.
UniGeneiHs.495912.

Genome annotation databases

EnsembliENST00000420596; ENSP00000399897; ENSG00000198947.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AC004468 Genomic DNA. No translation available.
AC006061 Genomic DNA. No translation available.
AC078957 Genomic DNA. No translation available.
AC078958 Genomic DNA. No translation available.
AC079143 Genomic DNA. No translation available.
AC079175 Genomic DNA. No translation available.
AC079177 Genomic DNA. No translation available.
AC079864 Genomic DNA. No translation available.
AC090632 Genomic DNA. No translation available.
AC093167 Genomic DNA. No translation available.
AC093193 Genomic DNA. No translation available.
AC096506 Genomic DNA. No translation available.
AL031542 Genomic DNA. No translation available.
AL031643 Genomic DNA. No translation available.
AL049643 Genomic DNA. No translation available.
AL050305 Genomic DNA. No translation available.
AL096699 Genomic DNA. No translation available.
AL109609 Genomic DNA. No translation available.
AL121880 Genomic DNA. No translation available.
AL139278 Genomic DNA. No translation available.
AL139401 Genomic DNA. No translation available.
AL451144 Genomic DNA. No translation available.
AL596023 Genomic DNA. No translation available.
M63073 mRNA. Translation: AAA52313.1 .
PIRi I65644.
UniGenei Hs.495912.

3D structure databases

ProteinModelPortali Q14172.
ModBasei Search...
MobiDBi Search...

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000420596 ; ENSP00000399897 ; ENSG00000198947 .

Organism-specific databases

HGNCi HGNC:2928. DMD.
GenAtlasi Search...

Miscellaneous databases

ChiTaRSi DMD. human.

Family and domain databases

InterProi IPR001589. Actinin_actin-bd_CS.
IPR001715. CH-domain.
IPR002017. Spectrin_repeat.
[Graphical view ]
Pfami PF00435. Spectrin. 1 hit.
[Graphical view ]
SUPFAMi SSF47576. SSF47576. 1 hit.
PROSITEi PS00019. ACTININ_1. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies."
    Chelly J., Gilgenkrantz H., Lambert M., Hamard G., Chafey P., Recan D., Katz P., de la Chapelle A., Koenig M., Ginjaar I.B., Fardeau M., Tome F., Kahn A., Kaplan J.-C.
    Cell 63:1239-1248(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE.
    Tissue: MuscleImported.
  2. "The DNA sequence of the human X chromosome."
    Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
    , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
    Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Ensembl
    Submitted (JUL-2011) to UniProtKB
    Cited for: IDENTIFICATION.

Entry informationi

Entry nameiQ14172_HUMAN
AccessioniPrimary (citable) accession number: Q14172
Entry historyi
Integrated into UniProtKB/TrEMBL: November 1, 1996
Last sequence update: November 1, 1996
Last modified: June 11, 2014
This is version 91 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

External Data

Dasty 3

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