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Protein
Submitted name:

Duchenne muscular dystrophy protein

Gene

DMD

Organism
Homo sapiens (Human)
Status
Unreviewed-Annotation score: Annotation score: 1 out of 5-Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

Keywordsi

Molecular functionActin-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
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:2928. DMD.

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000198947.

Expressioni

Gene expression databases

BgeeiENSG00000198947.
ExpressionAtlasiQ14174. baseline and differential.

Interactioni

GO - Molecular functioni

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1 – 82Actin-bindingInterPro annotationAdd BLAST82

Keywords - Domaini

RepeatSAAS annotation

Phylogenomic databases

eggNOGiKOG4286. Eukaryota.
COG5069. LUCA.
GeneTreeiENSGT00760000119237.

Family and domain databases

CDDicd00014. CH. 1 hit.
Gene3Di1.10.418.10. 1 hit.
InterProiView protein in InterPro
IPR001589. Actinin_actin-bd_CS.
IPR001715. CH-domain.
PfamiView protein in Pfam
PF00307. CH. 1 hit.
SMARTiView protein in SMART
SM00033. CH. 1 hit.
SUPFAMiSSF47576. SSF47576. 1 hit.
PROSITEiView protein in PROSITE
PS00020. ACTININ_2. 1 hit.
PS50021. CH. 1 hit.

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)DescriptionActionsGraphical viewLength
Non-terminal residuei1Imported1
Non-terminal residuei125Imported1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
M63075 mRNA. Translation: AAA52315.1.
PIRiI65646.
UniGeneiHs.495912.

Genome annotation databases

EnsembliENST00000447523; ENSP00000395904; ENSG00000198947.
UCSCiuc064ymi.1. human.

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

Entry informationi

Entry nameiQ14174_HUMAN
AccessioniPrimary (citable) accession number: Q14174
Entry historyiIntegrated into UniProtKB/TrEMBL: November 1, 1996
Last sequence update: November 1, 1996
Last modified: July 5, 2017
This is version 121 of the entry and version 1 of the sequence. See 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, Proteomics identificationCombined sources, Reference proteomeImported