UniProtKB - Q92629 (SGCD_HUMAN)
Delta-sarcoglycan
SGCD
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
- calcium ion homeostasis Source: Ensembl
- calcium-mediated signaling Source: Ensembl
- cardiac muscle cell contraction Source: Ensembl
- cardiac muscle cell development Source: Ensembl
- cardiac muscle tissue development Source: GO_Central
- coronary vasculature morphogenesis Source: Ensembl
- heart contraction Source: GO_Central
- muscle organ development Source: ProtInc
- protein-containing complex localization Source: Ensembl
Enzyme and pathway databases
PathwayCommonsi | Q92629 |
SignaLinki | Q92629 |
SIGNORi | Q92629 |
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
HGNCi | HGNC:10807, SGCD |
MIMi | 601411, gene |
neXtProti | NX_Q92629 |
VEuPathDBi | HostDB:ENSG00000170624 |
Subcellular locationi
Plasma membrane
Cytoskeleton
Cytoskeleton
- cytoskeleton Source: UniProtKB-SubCell
Endoplasmic reticulum
- sarcoplasmic reticulum Source: Ensembl
Plasma Membrane
- dystrophin-associated glycoprotein complex Source: UniProtKB
- plasma membrane Source: ProtInc
- sarcoglycan complex Source: GO_Central
- sarcolemma Source: GO_Central
Other locations
- integral component of membrane Source: UniProtKB-KW
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
Muscular dystrophy, limb-girdle, autosomal recessive 6 (LGMDR6)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_010396 | 261 | E → K in LGMDR6. 1 PublicationCorresponds to variant dbSNP:rs121909297Ensembl. | 1 |
Cardiomyopathy, dilated 1L (CMD1L)1 Publication
Feature 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 variant, Limb-girdle muscular dystrophyOrganism-specific databases
DisGeNETi | 6444 |
GeneReviewsi | SGCD |
MalaCardsi | SGCD |
MIMi | 601287, phenotype 606685, phenotype |
OpenTargetsi | ENSG00000170624 |
Orphaneti | 219, Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 154, Familial isolated dilated cardiomyopathy |
PharmGKBi | PA35718 |
Miscellaneous databases
Pharosi | Q92629, Tbio |
Genetic variation 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
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
jPOSTi | Q92629 |
MassIVEi | Q92629 |
MaxQBi | Q92629 |
PaxDbi | Q92629 |
PeptideAtlasi | Q92629 |
PRIDEi | Q92629 |
ProteomicsDBi | 75384 [Q92629-1] 75385 [Q92629-2] 75386 [Q92629-3] |
PTM databases
GlyGeni | Q92629, 3 sites |
iPTMneti | Q92629 |
PhosphoSitePlusi | Q92629 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000170624, Expressed in heart left ventricle and 223 other tissues |
ExpressionAtlasi | Q92629, baseline and differential |
Genevisiblei | Q92629, HS |
Organism-specific databases
HPAi | ENSG00000170624, Tissue enhanced (heart muscle, skeletal muscle, tongue) |
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 similarityProtein-protein interaction databases
BioGRIDi | 112342, 65 interactors |
CORUMi | Q92629 |
IntActi | Q92629, 13 interactors |
MINTi | Q92629 |
STRINGi | 9606.ENSP00000338343 |
Miscellaneous databases
RNActi | Q92629, protein |
Structurei
3D structure databases
AlphaFoldDBi | Q92629 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Signal-anchor, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3950, Eukaryota |
GeneTreei | ENSGT00940000158509 |
HOGENOMi | CLU_043450_0_0_1 |
InParanoidi | Q92629 |
OMAi | XPKAVEA |
OrthoDBi | 1407024at2759 |
PhylomeDBi | Q92629 |
TreeFami | TF313538 |
Family and domain databases
InterProi | View protein in InterPro IPR006875, Sarcoglycan IPR039972, Sarcoglycan_gamma/delta/zeta IPR027661, SGCD |
PANTHERi | PTHR12939, PTHR12939, 1 hit 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 basketThis entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketE5RI34 | E5RI34_HUMAN | Delta-sarcoglycan | SGCD | 82 | Annotation score: |
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 LGMDR6. 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] |
Genome annotation databases
Ensembli | ENST00000337851.9; ENSP00000338343.4; ENSG00000170624.14 [Q92629-2] ENST00000435422.7; ENSP00000403003.2; ENSG00000170624.14 ENST00000517913.5; ENSP00000429378.1; ENSG00000170624.14 [Q92629-3] |
GeneIDi | 6444 |
KEGGi | hsa:6444 |
MANE-Selecti | ENST00000337851.9; ENSP00000338343.4; NM_000337.6; NP_000328.2 [Q92629-2] |
UCSCi | uc003lwc.5, human [Q92629-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
Leiden Muscular Dystrophy pages SGCD mutations in LGMD2F/CMD1L |
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] |
3D structure databases
AlphaFoldDBi | Q92629 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 112342, 65 interactors |
CORUMi | Q92629 |
IntActi | Q92629, 13 interactors |
MINTi | Q92629 |
STRINGi | 9606.ENSP00000338343 |
PTM databases
GlyGeni | Q92629, 3 sites |
iPTMneti | Q92629 |
PhosphoSitePlusi | Q92629 |
Genetic variation databases
BioMutai | SGCD |
DMDMi | 212276471 |
Proteomic databases
jPOSTi | Q92629 |
MassIVEi | Q92629 |
MaxQBi | Q92629 |
PaxDbi | Q92629 |
PeptideAtlasi | Q92629 |
PRIDEi | Q92629 |
ProteomicsDBi | 75384 [Q92629-1] 75385 [Q92629-2] 75386 [Q92629-3] |
Protocols and materials databases
Antibodypediai | 8150, 288 antibodies from 34 providers |
DNASUi | 6444 |
Genome annotation databases
Ensembli | ENST00000337851.9; ENSP00000338343.4; ENSG00000170624.14 [Q92629-2] ENST00000435422.7; ENSP00000403003.2; ENSG00000170624.14 ENST00000517913.5; ENSP00000429378.1; ENSG00000170624.14 [Q92629-3] |
GeneIDi | 6444 |
KEGGi | hsa:6444 |
MANE-Selecti | ENST00000337851.9; ENSP00000338343.4; NM_000337.6; NP_000328.2 [Q92629-2] |
UCSCi | uc003lwc.5, human [Q92629-1] |
Organism-specific databases
CTDi | 6444 |
DisGeNETi | 6444 |
GeneCardsi | SGCD |
GeneReviewsi | SGCD |
HGNCi | HGNC:10807, SGCD |
HPAi | ENSG00000170624, Tissue enhanced (heart muscle, skeletal muscle, tongue) |
MalaCardsi | SGCD |
MIMi | 601287, phenotype 601411, gene 606685, phenotype |
neXtProti | NX_Q92629 |
OpenTargetsi | ENSG00000170624 |
Orphaneti | 219, Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 154, Familial isolated dilated cardiomyopathy |
PharmGKBi | PA35718 |
VEuPathDBi | HostDB:ENSG00000170624 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3950, Eukaryota |
GeneTreei | ENSGT00940000158509 |
HOGENOMi | CLU_043450_0_0_1 |
InParanoidi | Q92629 |
OMAi | XPKAVEA |
OrthoDBi | 1407024at2759 |
PhylomeDBi | Q92629 |
TreeFami | TF313538 |
Enzyme and pathway databases
PathwayCommonsi | Q92629 |
SignaLinki | Q92629 |
SIGNORi | Q92629 |
Miscellaneous databases
BioGRID-ORCSi | 6444, 17 hits in 1070 CRISPR screens |
ChiTaRSi | SGCD, human |
GeneWikii | Delta-sarcoglycan SGCD |
GenomeRNAii | 6444 |
Pharosi | Q92629, Tbio |
PROi | PR:Q92629 |
RNActi | Q92629, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000170624, Expressed in heart left ventricle and 223 other tissues |
ExpressionAtlasi | Q92629, baseline and differential |
Genevisiblei | Q92629, HS |
Family and domain databases
InterProi | View protein in InterPro IPR006875, Sarcoglycan IPR039972, Sarcoglycan_gamma/delta/zeta IPR027661, SGCD |
PANTHERi | PTHR12939, PTHR12939, 1 hit PTHR12939:SF6, PTHR12939:SF6, 1 hit |
Pfami | View protein in Pfam PF04790, Sarcoglycan_1, 1 hit |
MobiDBi | Search... |
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: | May 25, 2022 | |
This is version 189 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families