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Q14174

- Q14174_HUMAN

UniProt

Q14174 - Q14174_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

Functioni

Keywords - Ligandi

Actin-bindingSAAS annotation

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.

Expressioni

Gene expression databases

ExpressionAtlasiQ14174. baseline and differential.

Structurei

3D structure databases

ProteinModelPortaliQ14174.
SMRiQ14174. Positions 1-113.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

RepeatSAAS annotation

Phylogenomic databases

GeneTreeiENSGT00760000119237.

Family and domain databases

Gene3Di1.10.418.10. 1 hit.
InterProiIPR001589. Actinin_actin-bd_CS.
IPR001715. CH-domain.
[Graphical view]
PfamiPF00307. CH. 1 hit.
[Graphical view]
SMARTiSM00033. CH. 1 hit.
[Graphical view]
SUPFAMiSSF47576. SSF47576. 1 hit.
PROSITEiPS00020. ACTININ_2. 1 hit.
PS50021. CH. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Fragment.

Q14174-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
ENLFSDLQDG RRLLDLLEGL TGQKLPKEKG STRVHALNNV NKALRVLQNN
60 70 80 90 100
NVDLVNIGST DIVDGNHKLT LGLIWNIILH WQVLGDRWAN ICRWTEDRWV
110 120
LLQDILLKWQ RLTEEQCLFS AWLSE
Length:125
Mass (Da):14,525
Last modified:November 1, 1996 - v1
Checksum:i82C8DDA61827C8AE
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Non-terminal residuei1 – 11Imported
Non-terminal residuei125 – 1251Imported

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.
KF459040 Genomic DNA. No translation available.
KF459044 Genomic DNA. No translation available.
KF459045 Genomic DNA. No translation available.
M63075 mRNA. Translation: AAA52315.1.
PIRiI65646.
UniGeneiHs.495912.

Genome annotation databases

EnsembliENST00000447523; ENSP00000395904; 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.
KF459040 Genomic DNA. No translation available.
KF459044 Genomic DNA. No translation available.
KF459045 Genomic DNA. No translation available.
M63075 mRNA. Translation: AAA52315.1 .
PIRi I65646.
UniGenei Hs.495912.

3D structure databases

ProteinModelPortali Q14174.
SMRi Q14174. Positions 1-113.
ModBasei Search...
MobiDBi Search...

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000447523 ; ENSP00000395904 ; ENSG00000198947 .

Organism-specific databases

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

Phylogenomic databases

GeneTreei ENSGT00760000119237.

Miscellaneous databases

ChiTaRSi DMD. human.

Gene expression databases

ExpressionAtlasi Q14174. baseline and differential.

Family and domain databases

Gene3Di 1.10.418.10. 1 hit.
InterProi IPR001589. Actinin_actin-bd_CS.
IPR001715. CH-domain.
[Graphical view ]
Pfami PF00307. CH. 1 hit.
[Graphical view ]
SMARTi SM00033. CH. 1 hit.
[Graphical view ]
SUPFAMi SSF47576. SSF47576. 1 hit.
PROSITEi PS00020. ACTININ_2. 1 hit.
PS50021. CH. 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 (JAN-2012) to UniProtKB
    Cited for: IDENTIFICATION.

Entry informationi

Entry nameiQ14174_HUMAN
AccessioniPrimary (citable) accession number: Q14174
Entry historyi
Integrated into UniProtKB/TrEMBL: November 1, 1996
Last sequence update: November 1, 1996
Last modified: October 29, 2014
This is version 97 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 proteomeImported

External Data

Dasty 3