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Q4G0X0

- Q4G0X0_HUMAN

UniProt

Q4G0X0 - Q4G0X0_HUMAN

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Protein
Submitted name: DMD 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 annotations

Names & Taxonomyi

Protein namesi
Submitted name:
DMD 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.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA27378.

Family & Domainsi

Keywords - Domaini

RepeatSAAS annotations

Phylogenomic databases

HOGENOMiHOG000134526.
HOVERGENiHBG097030.
KOiK10366.

Family and domain databases

Gene3Di1.10.418.10. 2 hits.
InterProiIPR001589. Actinin_actin-bd_CS.
IPR001715. CH-domain.
IPR018159. Spectrin/alpha-actinin.
IPR002017. Spectrin_repeat.
[Graphical view]
PfamiPF00307. CH. 2 hits.
PF00435. Spectrin. 2 hits.
[Graphical view]
SMARTiSM00033. CH. 2 hits.
SM00150. SPEC. 3 hits.
[Graphical view]
SUPFAMiSSF47576. SSF47576. 1 hit.
PROSITEiPS00019. ACTININ_1. 1 hit.
PS00020. ACTININ_2. 1 hit.
PS50021. CH. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q4G0X0-1 [UniParc]FASTAAdd to Basket

« Hide

MEDEREDVQK KTFTKWVNAQ FSKFGKQHIE NLFSDLQDGR RLLDLLEGLT    50
GQKLPKEKGS TRVHALNNVN KALRVLQNNN VDLVNIGSTD IVDGNHKLTL 100
GLIWNIILHW QVKNVMKNIM AGLQQTNSEK ILLSWVRQST RNYPQVNVIN 150
FTTSWSDGLA LNALIHSHRP DLFDWNSVVC QQSATQRLEH AFNIARYQLG 200
IEKLLDPEDV DTTYPDKKSI LMYITSLFQV LPQQVSIEAI QEVEMLPRPP 250
KVTKEEHFQL HHQMHYSQQI TVSLAQGYER TSSPKPRFKS YAYTQAAYVT 300
TSDPTRSPFP SQHLEAPEDK SFGSSLMESE VNLDRYQTAL EEVLSWLLSA 350
EDTLQAQGEI SNDVEVVKDQ FHTHEGYMMD LTAHQGRVGN ILQLGSKLIG 400
TGKLSEDEET EVQEQMNLLN SRWECLRVAS MEKQSNLHRV LMDLQNQKLK 450
ELNDWLTKTE ERTRKMEEEP LGPDLEDLKR QVQQHKVLQE DLEQEQVRVN 500
SLTHMVVVVD ESSGDHATAA LEEQLKVLGD RWANICRWTE DRWVLLQDIL 550
LKWQRLTEEQ CLFSAWLSEK EDAVNKIHTT GFKDQNEMLS SLQKLAVLKA 600
DLEKKKQSMG KLYSLKQDLL STLKNKSVTQ KTEAWLDNFA RCWDNLVQKL 650
EKSTAQISQA VTTTQPSLTQ TTVMETVTTV TTREQILVKH AQEELPPPPP 700
QKKRQITVDS EIRKRLDVDI TELHSWITRS EAVLQSPEFA IFRKEGNFSD 750
LKEKVNVGYA LIFISVLILC CL 772
Length:772
Mass (Da):88,800
Last modified:February 5, 2008 - v1
Checksum:i33AEE50114531EBA
GO

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.
BC036103 mRNA. Translation: AAH36103.1.
RefSeqiNP_000100.2. NM_000109.3.
UniGeneiHs.495912.

Genome annotation databases

EnsembliENST00000288447; ENSP00000288447; ENSG00000198947.
GeneIDi1756.
KEGGihsa:1756.
UCSCiuc004ddf.3. human.

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.
BC036103 mRNA. Translation: AAH36103.1 .
RefSeqi NP_000100.2. NM_000109.3.
UniGenei Hs.495912.

3D structure databases

ModBasei Search...
MobiDBi Search...

Protocols and materials databases

DNASUi 1756.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000288447 ; ENSP00000288447 ; ENSG00000198947 .
GeneIDi 1756.
KEGGi hsa:1756.
UCSCi uc004ddf.3. human.

Organism-specific databases

CTDi 1756.
HGNCi HGNC:2928. DMD.
PharmGKBi PA27378.
GenAtlasi Search...

Phylogenomic databases

HOGENOMi HOG000134526.
HOVERGENi HBG097030.
KOi K10366.

Miscellaneous databases

ChiTaRSi DMD. human.
GenomeRNAii 1756.
NextBioi 7115.

Family and domain databases

Gene3Di 1.10.418.10. 2 hits.
InterProi IPR001589. Actinin_actin-bd_CS.
IPR001715. CH-domain.
IPR018159. Spectrin/alpha-actinin.
IPR002017. Spectrin_repeat.
[Graphical view ]
Pfami PF00307. CH. 2 hits.
PF00435. Spectrin. 2 hits.
[Graphical view ]
SMARTi SM00033. CH. 2 hits.
SM00150. SPEC. 3 hits.
[Graphical view ]
SUPFAMi SSF47576. SSF47576. 1 hit.
PROSITEi PS00019. ACTININ_1. 1 hit.
PS00020. ACTININ_2. 1 hit.
PS50021. CH. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Gerhard D.S., Wagner L., Feingold E.A., Shenmen C.M., Grouse L.H., Schuler G., Klein S.L., Old S., Rasooly R., Good P., Guyer M., Peck A.M., Derge J.G., Lipman D., Collins F.S., Jang W., Sherry S., Feolo M.
    , Misquitta L., Lee E., Rotmistrovsky K., Greenhut S.F., Schaefer C.F., Buetow K., Bonner T.I., Haussler D., Kent J., Kiekhaus M., Furey T., Brent M., Prange C., Schreiber K., Shapiro N., Bhat N.K., Hopkins R.F., Hsie F., Driscoll T., Soares M.B., Casavant T.L., Scheetz T.E., Brown-stein M.J., Usdin T.B., Toshiyuki S., Carninci P., Piao Y., Dudekula D.B., Ko M.S., Kawakami K., Suzuki Y., Sugano S., Gruber C.E., Smith M.R., Simmons B., Moore T., Waterman R., Johnson S.L., Ruan Y., Wei C.L., Mathavan S., Gunaratne P.H., Wu J., Garcia A.M., Hulyk S.W., Fuh E., Yuan Y., Sneed A., Kowis C., Hodgson A., Muzny D.M., McPherson J., Gibbs R.A., Fahey J., Helton E., Ketteman M., Madan A., Rodrigues S., Sanchez A., Whiting M., Madari A., Young A.C., Wetherby K.D., Granite S.J., Kwong P.N., Brinkley C.P., Pearson R.L., Bouffard G.G., Blakesly R.W., Green E.D., Dickson M.C., Rodriguez A.C., Grimwood J., Schmutz J., Myers R.M., Butterfield Y.S., Griffith M., Griffith O.L., Krzywinski M.I., Liao N., Morin R., Morrin R., Palmquist D., Petrescu A.S., Skalska U., Smailus D.E., Stott J.M., Schnerch A., Schein J.E., Jones S.J., Holt R.A., Baross A., Marra M.A., Clifton S., Makowski K.A., Bosak S., Malek J.
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: BrainImported.
  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 nameiQ4G0X0_HUMAN
AccessioniPrimary (citable) accession number: Q4G0X0
Entry historyi
Integrated into UniProtKB/TrEMBL: February 5, 2008
Last sequence update: February 5, 2008
Last modified: September 3, 2014
This is version 48 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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