Q8WYB9 (Q8WYB9_HUMAN) Unreviewed, UniProtKB/TrEMBL

Names and origin

Protein names

Submitted name:
Dystrophin EMBL AAL61585.1

Gene names

Name:

DMD EMBL AAL61585.1

Organism

Homo sapiens (Human) EMBL AAL61585.1

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	24 AA.
Sequence status	Fragment.
Protein existence	Evidence at transcript level

Ontologies

Gene Ontology (GO)
Biological_process	establishment of blood-nerve barrier Inferred from electronic annotation. Source: Compara establishment of glial blood-brain barrier Inferred from electronic annotation. Source: Compara muscle cell homeostasis Inferred from electronic annotation. Source: Compara muscle fiber development Inferred from electronic annotation. Source: Compara myotube cell development Inferred from electronic annotation. Source: Compara neurotransmitter receptor metabolic process Inferred from electronic annotation. Source: Compara nucleus localization Inferred from electronic annotation. Source: Compara olfactory nerve structural organization Inferred from electronic annotation. Source: Compara regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: Compara
Cellular_component	Z disc Inferred from electronic annotation. Source: Compara cell-substrate junction Inferred from electronic annotation. Source: Compara dystrophin-associated glycoprotein complex Inferred from electronic annotation. Source: Compara membrane raft Inferred from electronic annotation. Source: Compara neuron projection terminus Inferred from electronic annotation. Source: Compara sarcolemma Inferred from electronic annotation. Source: Compara synapse Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Experimental info
	Non-terminal residue	1	1	EMBL AAL61585.1
	Non-terminal residue	24	1	EMBL AAL61585.1

Sequences

	Sequence		Length	Mass (Da)
	Q8WYB9 [UniParc]. Last modified March 1, 2002. Version 1. Checksum: 9C932A284F14E382	FASTA	24	2,868
	10 20 DLNNVRFSAY RTAMKLRRLQ KALC

References

[1]	"Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD." Roest P.A., Bout M., van der Tuijn A.C., Ginjaar I.B., Bakker E., Hogervorst F.B., van Ommen G.J., den Dunnen J.T. J. Med. Genet. 33:935-939(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE OF 6-24.
[2]	den Dunnen J.T. Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE.
[3]	Roberts R.G. Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF213441 Genomic DNA. Translation: AAL61585.1.
IPI	IPI01011069.
UniGene	Hs.495912.
3D structure databases
HSSP	HSSP built from PDB template 1EG3 based on UniProtKB P11532.
ModBase	Search...
Protein-protein interaction databases
STRING	Q8WYB9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Gene expression databases
ArrayExpress	Q8WYB9.
Bgee	Q8WYB9.
Family and domain databases
InterPro	IPR015153. EF-hand_dom_typ1. [Graphical view]
Pfam	PF09068. efhand_1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	DMD. human.

Entry information

Entry name

Q8WYB9_HUMAN

Accession

Primary (citable) accession number: Q8WYB9

Entry history

Integrated into UniProtKB/TrEMBL:	March 1, 2002
Last sequence update:	March 1, 2002
Last modified:	April 3, 2013
This is version 41 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.