Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

E7EQS5

- E7EQS5_HUMAN

UniProt

E7EQS5 - E7EQS5_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein
Submitted name:

Dystrophin

Gene

DMD

Organism
Homo sapiens (Human)
Status
Unreviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  1. calcium ion binding Source: InterPro
  2. zinc ion binding Source: InterPro

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...

Enzyme and pathway databases

SignaLinkiE7EQS5.

Names & Taxonomyi

Protein namesi
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.

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...

Expressioni

Gene expression databases

BgeeiE7EQS5.
ExpressionAtlasiE7EQS5. baseline and differential.

Structurei

3D structure databases

ProteinModelPortaliE7EQS5.
SMRiE7EQS5. Positions 587-846, 849-901.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

RepeatSAAS annotation

Phylogenomic databases

GeneTreeiENSGT00760000119237.

Family and domain databases

Gene3Di1.10.238.10. 2 hits.
InterProiIPR011992. EF-hand-dom_pair.
IPR015153. EF-hand_dom_typ1.
IPR015154. EF-hand_dom_typ2.
IPR018159. Spectrin/alpha-actinin.
IPR002017. Spectrin_repeat.
IPR001202. WW_dom.
IPR000433. Znf_ZZ.
[Graphical view]
PfamiPF09068. EF-hand_2. 1 hit.
PF09069. EF-hand_3. 1 hit.
PF00435. Spectrin. 4 hits.
PF00397. WW. 1 hit.
PF00569. ZZ. 1 hit.
[Graphical view]
SMARTiSM00150. SPEC. 5 hits.
SM00456. WW. 1 hit.
SM00291. ZnF_ZZ. 1 hit.
[Graphical view]
SUPFAMiSSF51045. SSF51045. 1 hit.
PROSITEiPS01159. WW_DOMAIN_1. 1 hit.
PS50020. WW_DOMAIN_2. 1 hit.
PS01357. ZF_ZZ_1. 1 hit.
PS50135. ZF_ZZ_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

E7EQS5-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MPSSLMLEVP ALADFNRAWT ELTDWLSLLD QVIKSQRVMV GDLEDINEMI
60 70 80 90 100
IKQKATMQDL EQRRPQLEEL ITAAQNLKNK TSNQEARTII TDRIERIQNQ
110 120 130 140 150
WDEVQEHLQN RRQQLNEMLK DSTQWLEAKE EAEQVLGQAR AKLESWKEGP
160 170 180 190 200
YTVDAIQKKI TETKQLAKDL RQWQTNVDVA NDLALKLLRD YSADDTRKVH
210 220 230 240 250
MITENINASW RSIHKRVSER EAALEETHRL LQQFPLDLEK FLAWLTEAET
260 270 280 290 300
TANVLQDATR KERLLEDSKG VKELMKQWQD LQGEIEAHTD VYHNLDENSQ
310 320 330 340 350
KILRSLEGSD DAVLLQRRLD NMNFKWSELR KKSLNIRSHL EASSDQWKRL
360 370 380 390 400
HLSLQELLVW LQLKDDELSR QAPIGGDFPA VQKQNDVHRA FKRELKTKEP
410 420 430 440 450
VIMSTLETVR IFLTEQPLEG LEKLYQEPRE LPPEERAQNV TRLLRKQAEE
460 470 480 490 500
VNTEWEKLNL HSADWQRKID ETLERLRELQ EATDELDLKL RQAEVIKGSW
510 520 530 540 550
QPVGDLLIDS LQDHLEKVKA LRGEIAPLKE NVSHVNDLAR QLTTLGIQLS
560 570 580 590 600
PYNLSTLEDL NTRWKLLQVA VEDRVRQLHE AHRDFGPASQ HFLSTSVQGP
610 620 630 640 650
WERAISPNKV PYYINHETQT TCWDHPKMTE LYQSLADLNN VRFSAYRTAM
660 670 680 690 700
KLRRLQKALC LDLLSLSAAC DALDQHNLKQ NDQPMDILQI INCLTTIYDR
710 720 730 740 750
LEQEHNNLVN VPLCVDMCLN WLLNVYDTGR TGRIRVLSFK TGIISLCKAH
760 770 780 790 800
LEDKYRYLFK QVASSTGFCD QRRLGLLLHD SIQIPRQLGE VASFGGSNIE
810 820 830 840 850
PSVRSCFQFA NNKPEIEAAL FLDWMRLEPQ SMVWLPVLHR VAAAETAKHQ
860 870 880 890 900
AKCNICKECP IIGFRYRSLK HFNYDICQSC FFSGRVAKGH KMHYPMVEYC
910 920 930 940 950
TPTTSGEDVR DFAKVLKNKF RTKRYFAKHP RMGYLPVQTV LEGDNMETPV
960 970 980 990 1000
TLINFWPVDS APASSPQLSH DDTHSRIEHY ASRLAEMENS NGSYLNDSIS
1010 1020 1030 1040 1050
PNESIDDEHL LIQHYCQSLN QDSPLSQPRS PAQILISLES EERGELERIL
1060 1070 1080 1090 1100
ADLEEENRNL QAEYDRLKQQ HEHKGLSPLP SPPEMMPTSP QSPRDAELIA
1110 1120 1130 1140 1150
EAKLLRQHKG RLEARMQILE DHNKQLESQL HRLRQLLEQP QAEAKVNGTT
1160 1170 1180 1190 1200
VSSPSTSLQR SDSSQPMLLR VVGSQTSDSM GEEDLLSPPQ DTSTGLEEVM
1210 1220
EQLNNSFPSS RGRNTPGKPM REDTM
Length:1,225
Mass (Da):141,399
Last modified:March 8, 2011 - v1
Checksum:i68BBB0DD99787268
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

Genome annotation databases

EnsembliENST00000378707; ENSP00000367979; ENSG00000198947.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

ProteinModelPortali E7EQS5.
SMRi E7EQS5. Positions 587-846, 849-901.
ModBasei Search...
MobiDBi Search...

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000378707 ; ENSP00000367979 ; ENSG00000198947 .

Organism-specific databases

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

Phylogenomic databases

GeneTreei ENSGT00760000119237.

Enzyme and pathway databases

SignaLinki E7EQS5.

Miscellaneous databases

ChiTaRSi DMD. human.
NextBioi 35499931.

Gene expression databases

Bgeei E7EQS5.
ExpressionAtlasi E7EQS5. baseline and differential.

Family and domain databases

Gene3Di 1.10.238.10. 2 hits.
InterProi IPR011992. EF-hand-dom_pair.
IPR015153. EF-hand_dom_typ1.
IPR015154. EF-hand_dom_typ2.
IPR018159. Spectrin/alpha-actinin.
IPR002017. Spectrin_repeat.
IPR001202. WW_dom.
IPR000433. Znf_ZZ.
[Graphical view ]
Pfami PF09068. EF-hand_2. 1 hit.
PF09069. EF-hand_3. 1 hit.
PF00435. Spectrin. 4 hits.
PF00397. WW. 1 hit.
PF00569. ZZ. 1 hit.
[Graphical view ]
SMARTi SM00150. SPEC. 5 hits.
SM00456. WW. 1 hit.
SM00291. ZnF_ZZ. 1 hit.
[Graphical view ]
SUPFAMi SSF51045. SSF51045. 1 hit.
PROSITEi PS01159. WW_DOMAIN_1. 1 hit.
PS50020. WW_DOMAIN_2. 1 hit.
PS01357. ZF_ZZ_1. 1 hit.
PS50135. ZF_ZZ_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "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].
  2. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
    Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
    Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  3. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  4. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  5. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  7. Ensembl
    Submitted (JUL-2011) to UniProtKB
    Cited for: IDENTIFICATION.
  8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiE7EQS5_HUMAN
AccessioniPrimary (citable) accession number: E7EQS5
Entry historyi
Integrated into UniProtKB/TrEMBL: March 8, 2011
Last sequence update: March 8, 2011
Last modified: October 29, 2014
This is version 28 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

Caution

The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.Imported

Keywords - Technical termi

Complete proteome, Reference proteomeImported

External Data

Dasty 3