Q14174 (Q14174_HUMAN) Unreviewed, UniProtKB/TrEMBL

Names and origin

Protein names

Submitted name:
Duchenne muscular dystrophy protein EMBL AAA52315.1

Submitted name:
Dystrophin Ensembl ENSP00000395904

Gene names

Name:

DMD Ensembl ENSP00000395904 EMBL AAA52315.1

Organism

Homo sapiens (Human) [Reference proteome] EMBL AAA52315.1

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	125 AA.
Sequence status	Fragment.
Protein existence	Evidence at transcript level

Ontologies

Keywords
Domain	Repeat SAAS SAAS001715
Ligand	Actin-binding SAAS SAAS001715
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Experimental info
	Non-terminal residue	1	1	Ensembl ENSP00000395904 EMBL AAA52315.1
	Non-terminal residue	125	1	Ensembl ENSP00000395904 EMBL AAA52315.1

Sequences

	Sequence		Length	Mass (Da)
	Q14174 [UniParc]. Last modified November 1, 1996. Version 1. Checksum: 82C8DDA61827C8AE	FASTA	125	14,525
	10 20 30 40 50 60 ENLFSDLQDG RRLLDLLEGL TGQKLPKEKG STRVHALNNV NKALRVLQNN NVDLVNIGST 70 80 90 100 110 120 DIVDGNHKLT LGLIWNIILH WQVLGDRWAN ICRWTEDRWV LLQDILLKWQ RLTEEQCLFS AWLSE

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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: Muscle EMBL AAA52315.1.
[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.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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. M63075 mRNA. Translation: AAA52315.1.
IPI	IPI00639906.
PIR	I65646.
UniGene	Hs.495912.
3D structure databases
HSSP	HSSP built from PDB template 1DXX based on UniProtKB P11532.
SMR	Q14174. Positions 1-113.
ModBase	Search...
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000447523; ENSP00000395904; ENSG00000198947.
Organism-specific databases
HGNC	HGNC:2928. DMD.
GenAtlas	Search...
Gene expression databases
ArrayExpress	Q14174.
Family and domain databases
Gene3D	1.10.418.10. 1 hit.
InterPro	IPR001589. Actinin_actin-bd_CS. IPR001715. CH-domain. [Graphical view]
Pfam	PF00307. CH. 1 hit. [Graphical view]
SMART	SM00033. CH. 1 hit. [Graphical view]
SUPFAM	SSF47576. Calponin-homology. 1 hit.
PROSITE	PS00020. ACTININ_2. 1 hit. PS50021. CH. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	DMD. human.

Entry information

Entry name

Q14174_HUMAN

Accession

Primary (citable) accession number: Q14174

Entry history

Integrated into UniProtKB/TrEMBL:	November 1, 1996
Last sequence update:	November 1, 1996
Last modified:	May 1, 2013
This is version 86 of the entry and version 1 of the sequence. [Complete history]

Entry status

Unreviewed (UniProtKB/TrEMBL)

Disclaimer

Any 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.