UniProtKB - Q92629 (SGCD_HUMAN)
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Protein
Delta-sarcoglycan
Gene
SGCD
Organism
Homo sapiens (Human)
Status
Functioni
Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix.
GO - Biological processi
- cardiac muscle tissue development Source: GO_Central
- heart contraction Source: GO_Central
- membrane organization Source: GO_Central
- muscle cell development Source: GO_Central
- muscle organ development Source: ProtInc
Names & Taxonomyi
Protein namesi | Recommended name: Delta-sarcoglycanShort name: Delta-SG Alternative name(s): 35 kDa dystrophin-associated glycoprotein Short name: 35DAG |
Gene namesi | Name:SGCD |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000170624.13. |
HGNCi | HGNC:10807. SGCD. |
MIMi | 601411. gene. |
neXtProti | NX_Q92629. |
Subcellular locationi
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 35 | CytoplasmicSequence analysisAdd BLAST | 35 | |
Transmembranei | 36 – 56 | Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST | 21 | |
Topological domaini | 57 – 289 | ExtracellularSequence analysisAdd BLAST | 233 |
Keywords - Cellular componenti
Cell membrane, Cytoplasm, Cytoskeleton, MembranePathology & Biotechi
Involvement in diseasei
Limb-girdle muscular dystrophy 2F (LGMD2F)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive degenerative myopathy initially affecting the proximal limb girdle musculature. Muscle from patients shows a complete loss of delta-sarcoglycan as well as of the others components of the sarcoglycan complex.
See also OMIM:601287Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_010396 | 261 | E → K in LGMD2F. 1 PublicationCorresponds to variant dbSNP:rs121909297Ensembl. | 1 |
Cardiomyopathy, dilated 1L (CMD1L)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
See also OMIM:606685Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_013181 | 150 | S → A in CMD1L. 1 PublicationCorresponds to variant dbSNP:rs121909298Ensembl. | 1 |
Keywords - Diseasei
Cardiomyopathy, Disease mutation, Limb-girdle muscular dystrophyOrganism-specific databases
DisGeNETi | 6444. |
GeneReviewsi | SGCD. |
MalaCardsi | SGCD. |
MIMi | 601287. phenotype. 606685. phenotype. |
OpenTargetsi | ENSG00000170624. |
Orphaneti | 219. Autosomal recessive limb-girdle muscular dystrophy type 2F. 154. Familial isolated dilated cardiomyopathy. |
PharmGKBi | PA35718. |
Polymorphism and mutation databases
BioMutai | SGCD. |
DMDMi | 212276471. |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000175245 | 1 – 289 | Delta-sarcoglycanAdd BLAST | 289 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 60 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 108 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 263 ↔ 288 | Sequence analysis | ||
Disulfide bondi | 265 ↔ 281 | Sequence analysis | ||
Glycosylationi | 284 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Post-translational modificationi
Glycosylated.
Disulfide bonds are present.By similarity
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
MaxQBi | Q92629. |
PaxDbi | Q92629. |
PeptideAtlasi | Q92629. |
PRIDEi | Q92629. |
PTM databases
iPTMneti | Q92629. |
PhosphoSitePlusi | Q92629. |
Expressioni
Tissue specificityi
Most strongly expressed in skeletal and cardiac muscle. Also detected in smooth muscle. Weak expression in brain and lung.
Gene expression databases
Bgeei | ENSG00000170624. |
CleanExi | HS_SGCD. |
ExpressionAtlasi | Q92629. baseline and differential. |
Genevisiblei | Q92629. HS. |
Organism-specific databases
HPAi | HPA026969. |
Interactioni
Subunit structurei
Interacts with FLNC and DAG1. Cross-link to form 2 major subcomplexes: one consisting of SGCB, SGCD and SGCG and the other consisting of SGCB and SGCD. The association between SGCB and SGCG is particularly strong while SGCA is loosely associated with the other sarcoglycans (By similarity).By similarity
Binary interactionsi
With | Entry | #Exp. | IntAct | Notes |
---|---|---|---|---|
FLNC | Q14315 | 4 | EBI-3904504,EBI-489954 |
Protein-protein interaction databases
BioGridi | 112342. 7 interactors. |
CORUMi | Q92629. |
IntActi | Q92629. 5 interactors. |
MINTi | Q92629. |
STRINGi | 9606.ENSP00000338343. |
Family & Domainsi
Sequence similaritiesi
Belongs to the sarcoglycan beta/delta/gamma/zeta family.Curated
Keywords - Domaini
Signal-anchor, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3950. Eukaryota. ENOG4111GCH. LUCA. |
GeneTreei | ENSGT00390000017950. |
HOGENOMi | HOG000007853. |
HOVERGENi | HBG008669. |
InParanoidi | Q92629. |
KOi | K12563. |
OMAi | IRSRPGN. |
OrthoDBi | EOG091G11VY. |
PhylomeDBi | Q92629. |
TreeFami | TF313538. |
Family and domain databases
InterProi | View protein in InterPro IPR006875. Sarcoglycan. IPR027661. SGCD. |
PANTHERi | PTHR12939:SF6. PTHR12939:SF6. 1 hit. |
Pfami | View protein in Pfam PF04790. Sarcoglycan_1. 1 hit. |
s (3)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q92629-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
10 20 30 40 50
MPQEQYTHHR STMPGSVGPQ VYKVGIYGWR KRCLYFFVLL LMILILVNLA
60 70 80 90 100
MTIWILKVMN FTIDGMGNLR ITEKGLKLEG DSEFLQPLYA KEIQSRPGNA
110 120 130 140 150
LYFKSARNVT VNILNDQTKV LTQLITGPKA VEAYGKKFEV KTVSGKLLFS
160 170 180 190 200
ADNNEVVVGA ERLRVLGAEG TVFPKSIETP NVRADPFKEL RLESPTRSLV
210 220 230 240 250
MEAPKGVEIN AEAGNMEATC RTELRLESKD GEIKLDAAKI RLPRLPHGSY
260 270 280
TPTGTRQKVF EICVCANGRL FLSQAGAGST CQINTSVCL
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_010429 | 96 | R → Q1 PublicationCorresponds to variant dbSNP:rs45559835Ensembl. | 1 | |
Natural variantiVAR_013181 | 150 | S → A in CMD1L. 1 PublicationCorresponds to variant dbSNP:rs121909298Ensembl. | 1 | |
Natural variantiVAR_010396 | 261 | E → K in LGMD2F. 1 PublicationCorresponds to variant dbSNP:rs121909297Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_039245 | 1 | M → MM in isoform 2 and isoform 3. 4 Publications | 1 | |
Alternative sequenceiVSP_039246 | 233 – 255 | IKLDA…TPTGT → VRDEKDRSSKSYSFNRPTLP ITG in isoform 3. 1 PublicationAdd BLAST | 23 | |
Alternative sequenceiVSP_039247 | 256 – 289 | Missing in isoform 3. 1 PublicationAdd BLAST | 34 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X95191 mRNA. Translation: CAA64490.1. U58331 mRNA. Translation: AAC50921.1. AK292794 mRNA. Translation: BAF85483.1. BX537948 mRNA. Translation: CAD97916.1. BC020740 mRNA. Translation: AAH20740.1. |
CCDSi | CCDS47325.1. [Q92629-2] CCDS47326.1. [Q92629-3] CCDS47327.1. [Q92629-1] |
RefSeqi | NP_000328.2. NM_000337.5. [Q92629-2] NP_001121681.1. NM_001128209.1. [Q92629-1] NP_758447.1. NM_172244.2. [Q92629-3] XP_005266023.1. XM_005265966.4. [Q92629-2] XP_011532923.1. XM_011534621.2. [Q92629-1] XP_016865212.1. XM_017009723.1. [Q92629-2] XP_016865213.1. XM_017009724.1. [Q92629-2] |
UniGenei | Hs.387207. Hs.644733. |
Genome annotation databases
Ensembli | ENST00000337851; ENSP00000338343; ENSG00000170624. [Q92629-2] ENST00000435422; ENSP00000403003; ENSG00000170624. [Q92629-1] ENST00000517913; ENSP00000429378; ENSG00000170624. [Q92629-3] |
GeneIDi | 6444. |
KEGGi | hsa:6444. |
UCSCi | uc003lwc.5. human. [Q92629-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Entry informationi
Entry namei | SGCD_HUMAN | |
Accessioni | Q92629Primary (citable) accession number: Q92629 Secondary accession number(s): A8K9S9, Q53XA5, Q99644 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 27, 2001 |
Last sequence update: | November 4, 2008 | |
Last modified: | March 28, 2018 | |
This is version 164 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
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. |