UniProtKB - Q13326 (SGCG_HUMAN)
Protein
Gamma-sarcoglycan
Gene
SGCG
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
- muscle organ development Source: ProtInc
Enzyme and pathway databases
PathwayCommonsi | Q13326 |
SIGNORi | Q13326 |
Names & Taxonomyi
Protein namesi | Recommended name: Gamma-sarcoglycanShort name: Gamma-SG Alternative name(s): 35 kDa dystrophin-associated glycoprotein Short name: 35DAG |
Gene namesi | Name:SGCG |
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:ENSG00000102683.7 |
HGNCi | HGNC:10809, SGCG |
MIMi | 608896, gene |
neXtProti | NX_Q13326 |
Subcellular locationi
Cytoskeleton
- cytoskeleton By similarity
Plasma membrane
- sarcolemma By similarity; Single-pass type II membrane protein By similarity
Cytoskeleton
- cytoskeleton Source: UniProtKB-SubCell
Plasma Membrane
- plasma membrane Source: ProtInc
- sarcoglycan complex Source: GO_Central
- sarcolemma Source: GO_Central
Other locations
- cytoplasm Source: UniProtKB-KW
- integral component of membrane Source: UniProtKB-KW
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 37 | CytoplasmicSequence analysisAdd BLAST | 37 | |
Transmembranei | 38 – 58 | Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST | 21 | |
Topological domaini | 59 – 291 | ExtracellularSequence analysisAdd BLAST | 233 |
Keywords - Cellular componenti
Cell membrane, Cytoplasm, Cytoskeleton, MembranePathology & Biotechi
Involvement in diseasei
Muscular dystrophy, limb-girdle, autosomal recessive 5 (LGMDR5)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive degenerative myopathy characterized by rapidly progressive muscle wasting from early childhood with loss of independent ambulation around age 12 years, dystrophic pattern on muscle biopsy, absence of gamma-sarcoglycan and normal dystrophin immunostaining.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_010430 | 69 | G → D in LGMDR5. | 1 | |
Natural variantiVAR_012202 | 69 | G → R in LGMDR5. 1 Publication | 1 | |
Natural variantiVAR_081101 | 71 | L → S in LGMDR5. 1 PublicationCorresponds to variant dbSNP:rs143009120Ensembl. | 1 | |
Natural variantiVAR_010398 | 283 | C → Y in LGMDR5. 1 PublicationCorresponds to variant dbSNP:rs104894422EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutation, Limb-girdle muscular dystrophyOrganism-specific databases
DisGeNETi | 6445 |
MalaCardsi | SGCG |
MIMi | 253700, phenotype |
OpenTargetsi | ENSG00000102683 |
Orphaneti | 353, Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 |
PharmGKBi | PA35720 |
Miscellaneous databases
Pharosi | Q13326, Tbio |
Polymorphism and mutation databases
BioMutai | SGCG |
DMDMi | 313104319 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000175248 | 1 – 291 | Gamma-sarcoglycanAdd BLAST | 291 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 110 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 265 ↔ 290 | Sequence analysis | ||
Disulfide bondi | 267 ↔ 283 | Sequence analysis |
Keywords - PTMi
Disulfide bond, GlycoproteinProteomic databases
MassIVEi | Q13326 |
PaxDbi | Q13326 |
PeptideAtlasi | Q13326 |
PRIDEi | Q13326 |
ProteomicsDBi | 59316 |
PTM databases
GlyGeni | Q13326, 1 site |
PhosphoSitePlusi | Q13326 |
Expressioni
Tissue specificityi
Expressed in skeletal and heart muscle.
Gene expression databases
Bgeei | ENSG00000102683, Expressed in vastus lateralis and 141 other tissues |
Genevisiblei | Q13326, HS |
Organism-specific databases
HPAi | ENSG00000102683, Group enriched (heart muscle, skeletal muscle, tongue) |
Interactioni
Subunit structurei
Interacts with the syntrophin SNTA1. 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).
Interacts with FLNC.
By similarity1 PublicationBinary interactionsi
Hide detailsQ13326
Protein-protein interaction databases
BioGRIDi | 112343, 4 interactors |
CORUMi | Q13326 |
IntActi | Q13326, 18 interactors |
MINTi | Q13326 |
STRINGi | 9606.ENSP00000218867 |
Miscellaneous databases
RNActi | Q13326, protein |
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 |
GeneTreei | ENSGT00940000159187 |
HOGENOMi | CLU_043450_0_0_1 |
InParanoidi | Q13326 |
OMAi | FNTEGMG |
OrthoDBi | 1407024at2759 |
PhylomeDBi | Q13326 |
TreeFami | TF313538 |
Family and domain databases
InterProi | View protein in InterPro IPR006875, Sarcoglycan IPR039972, Sarcoglycan_gamma/delta/zeta IPR027660, SGCG |
PANTHERi | PTHR12939, PTHR12939, 1 hit PTHR12939:SF4, PTHR12939:SF4, 1 hit |
Pfami | View protein in Pfam PF04790, Sarcoglycan_1, 1 hit |
i Sequence
Sequence statusi: Complete.
Q13326-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MVREQYTTAT EGICIERPEN QYVYKIGIYG WRKRCLYLFV LLLLIILVVN
60 70 80 90 100
LALTIWILKV MWFSPAGMGH LCVTKDGLRL EGESEFLFPL YAKEIHSRVD
110 120 130 140 150
SSLLLQSTQN VTVNARNSEG EVTGRLKVGP KMVEVQNQQF QINSNDGKPL
160 170 180 190 200
FTVDEKEVVV GTDKLRVTGP EGALFEHSVE TPLVRADPFQ DLRLESPTRS
210 220 230 240 250
LSMDAPRGVH IQAHAGKIEA LSQMDILFHS SDGMLVLDAE TVCLPKLVQG
260 270 280 290
TWGPSGSSQS LYEICVCPDG KLYLSVAGVS TTCQEHNHIC L
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_010430 | 69 | G → D in LGMDR5. | 1 | |
Natural variantiVAR_012202 | 69 | G → R in LGMDR5. 1 Publication | 1 | |
Natural variantiVAR_081101 | 71 | L → S in LGMDR5. 1 PublicationCorresponds to variant dbSNP:rs143009120Ensembl. | 1 | |
Natural variantiVAR_010397 | 116 | R → H1 PublicationCorresponds to variant dbSNP:rs17314986EnsemblClinVar. | 1 | |
Natural variantiVAR_010398 | 283 | C → Y in LGMDR5. 1 PublicationCorresponds to variant dbSNP:rs104894422EnsemblClinVar. | 1 | |
Natural variantiVAR_010399 | 287 | N → S3 PublicationsCorresponds to variant dbSNP:rs1800354EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U34976 mRNA Translation: AAC50269.1 U63395 , U63389, U63390, U63391, U63392, U63393, U63394 Genomic DNA Translation: AAD13475.1 AL157766 Genomic DNA No translation available. AL356287 Genomic DNA No translation available. AL160256 Genomic DNA No translation available. BC074777 mRNA Translation: AAH74777.1 BC074778 mRNA Translation: AAH74778.1 BC109321 mRNA Translation: AAI09322.1 |
CCDSi | CCDS9299.1 |
RefSeqi | NP_000222.1, NM_000231.2 XP_005266562.1, XM_005266505.2 |
Genome annotation databases
Ensembli | ENST00000218867; ENSP00000218867; ENSG00000102683 |
GeneIDi | 6445 |
KEGGi | hsa:6445 |
UCSCi | uc001uom.3, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Web resourcesi
Leiden Muscular Dystrophy pages SGCG mutations in LGMD2C |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U34976 mRNA Translation: AAC50269.1 U63395 , U63389, U63390, U63391, U63392, U63393, U63394 Genomic DNA Translation: AAD13475.1 AL157766 Genomic DNA No translation available. AL356287 Genomic DNA No translation available. AL160256 Genomic DNA No translation available. BC074777 mRNA Translation: AAH74777.1 BC074778 mRNA Translation: AAH74778.1 BC109321 mRNA Translation: AAI09322.1 |
CCDSi | CCDS9299.1 |
RefSeqi | NP_000222.1, NM_000231.2 XP_005266562.1, XM_005266505.2 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 112343, 4 interactors |
CORUMi | Q13326 |
IntActi | Q13326, 18 interactors |
MINTi | Q13326 |
STRINGi | 9606.ENSP00000218867 |
PTM databases
GlyGeni | Q13326, 1 site |
PhosphoSitePlusi | Q13326 |
Polymorphism and mutation databases
BioMutai | SGCG |
DMDMi | 313104319 |
Proteomic databases
MassIVEi | Q13326 |
PaxDbi | Q13326 |
PeptideAtlasi | Q13326 |
PRIDEi | Q13326 |
ProteomicsDBi | 59316 |
Protocols and materials databases
Antibodypediai | 2309, 139 antibodies |
DNASUi | 6445 |
Genome annotation databases
Ensembli | ENST00000218867; ENSP00000218867; ENSG00000102683 |
GeneIDi | 6445 |
KEGGi | hsa:6445 |
UCSCi | uc001uom.3, human |
Organism-specific databases
CTDi | 6445 |
DisGeNETi | 6445 |
EuPathDBi | HostDB:ENSG00000102683.7 |
GeneCardsi | SGCG |
HGNCi | HGNC:10809, SGCG |
HPAi | ENSG00000102683, Group enriched (heart muscle, skeletal muscle, tongue) |
MalaCardsi | SGCG |
MIMi | 253700, phenotype 608896, gene |
neXtProti | NX_Q13326 |
OpenTargetsi | ENSG00000102683 |
Orphaneti | 353, Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 |
PharmGKBi | PA35720 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3950, Eukaryota |
GeneTreei | ENSGT00940000159187 |
HOGENOMi | CLU_043450_0_0_1 |
InParanoidi | Q13326 |
OMAi | FNTEGMG |
OrthoDBi | 1407024at2759 |
PhylomeDBi | Q13326 |
TreeFami | TF313538 |
Enzyme and pathway databases
PathwayCommonsi | Q13326 |
SIGNORi | Q13326 |
Miscellaneous databases
BioGRID-ORCSi | 6445, 3 hits in 845 CRISPR screens |
ChiTaRSi | SGCG, human |
GeneWikii | SGCG |
GenomeRNAii | 6445 |
Pharosi | Q13326, Tbio |
PROi | PR:Q13326 |
RNActi | Q13326, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000102683, Expressed in vastus lateralis and 141 other tissues |
Genevisiblei | Q13326, HS |
Family and domain databases
InterProi | View protein in InterPro IPR006875, Sarcoglycan IPR039972, Sarcoglycan_gamma/delta/zeta IPR027660, SGCG |
PANTHERi | PTHR12939, PTHR12939, 1 hit PTHR12939:SF4, PTHR12939:SF4, 1 hit |
Pfami | View protein in Pfam PF04790, Sarcoglycan_1, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SGCG_HUMAN | |
Accessioni | Q13326Primary (citable) accession number: Q13326 Secondary accession number(s): Q32M32, Q5T9J6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 27, 2001 |
Last sequence update: | November 30, 2010 | |
Last modified: | December 2, 2020 | |
This is version 178 of the entry and version 4 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 polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 13
Human chromosome 13: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations