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Protein

Gamma-sarcoglycan

Gene

SGCG

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

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

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000102683-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Gamma-sarcoglycan
Short name:
Gamma-SG
Alternative name(s):
35 kDa dystrophin-associated glycoprotein
Short name:
35DAG
Gene namesi
Name:SGCG
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

HGNCiHGNC:10809. SGCG.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 37CytoplasmicSequence analysisAdd BLAST37
Transmembranei38 – 58Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini59 – 291ExtracellularSequence analysisAdd BLAST233

GO - Cellular componenti

  • cytoplasm Source: UniProtKB-KW
  • cytoskeleton Source: UniProtKB-SubCell
  • integral component of membrane Source: UniProtKB-KW
  • plasma membrane Source: ProtInc
  • sarcoglycan complex Source: ProtInc
  • sarcolemma Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoskeleton, Membrane

Pathology & Biotechi

Involvement in diseasei

Limb-girdle muscular dystrophy 2C (LGMD2C)2 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.
See also OMIM:253700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01043069G → D in LGMD2C. 1
Natural variantiVAR_01220269G → R in LGMD2C. 1 Publication1
Natural variantiVAR_010398283C → Y in LGMD2C. 1 PublicationCorresponds to variant rs104894422dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Limb-girdle muscular dystrophy

Organism-specific databases

DisGeNETi6445.
MalaCardsiSGCG.
MIMi253700. phenotype.
OpenTargetsiENSG00000102683.
Orphaneti353. Autosomal recessive limb-girdle muscular dystrophy type 2C.
PharmGKBiPA35720.

Polymorphism and mutation databases

BioMutaiSGCG.
DMDMi313104319.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001752481 – 291Gamma-sarcoglycanAdd BLAST291

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi110N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi265 ↔ 290Sequence analysis
Disulfide bondi267 ↔ 283Sequence analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ13326.
PeptideAtlasiQ13326.
PRIDEiQ13326.

PTM databases

PhosphoSitePlusiQ13326.

Expressioni

Tissue specificityi

Expressed in skeletal and heart muscle.

Gene expression databases

BgeeiENSG00000102683.
CleanExiHS_SGCG.
GenevisibleiQ13326. HS.

Organism-specific databases

HPAiHPA007476.
HPA011922.

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 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
ACO1P213992EBI-5357343,EBI-2847111
DNAJB6O751902EBI-5357343,EBI-1053164
DYSFO759233EBI-5357343,EBI-2799016

Protein-protein interaction databases

BioGridi112343. 2 interactors.
IntActiQ13326. 16 interactors.
MINTiMINT-118958.
STRINGi9606.ENSP00000218867.

Structurei

3D structure databases

ProteinModelPortaliQ13326.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3950. Eukaryota.
ENOG4111GCH. LUCA.
GeneTreeiENSGT00390000017950.
HOGENOMiHOG000007853.
HOVERGENiHBG008669.
InParanoidiQ13326.
KOiK12564.
OMAiTTCQEHS.
OrthoDBiEOG091G11VY.
PhylomeDBiQ13326.
TreeFamiTF313538.

Family and domain databases

InterProiIPR006875. Sarcoglycan.
IPR027660. SGCG.
[Graphical view]
PANTHERiPTHR12939:SF4. PTHR12939:SF4. 1 hit.
PfamiPF04790. Sarcoglycan_1. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q13326-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:291
Mass (Da):32,379
Last modified:November 30, 2010 - v4
Checksum:i6CF219706ABFB77B
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01043069G → D in LGMD2C. 1
Natural variantiVAR_01220269G → R in LGMD2C. 1 Publication1
Natural variantiVAR_010397116R → H.1 PublicationCorresponds to variant rs17314986dbSNPEnsembl.1
Natural variantiVAR_010398283C → Y in LGMD2C. 1 PublicationCorresponds to variant rs104894422dbSNPEnsembl.1
Natural variantiVAR_010399287N → S.3 PublicationsCorresponds to variant rs1800354dbSNPEnsembl.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, AL160256, AL356287 Genomic DNA. Translation: CAI13924.1.
AL356287, AL157766, AL160256 Genomic DNA. Translation: CAI16053.1.
AL160256, AL157766, AL356287 Genomic DNA. Translation: CAI16544.1.
BC074777 mRNA. Translation: AAH74777.1.
BC074778 mRNA. Translation: AAH74778.1.
BC109321 mRNA. Translation: AAI09322.1.
CCDSiCCDS9299.1.
RefSeqiNP_000222.1. NM_000231.2.
XP_005266562.1. XM_005266505.2.
UniGeneiHs.37167.

Genome annotation databases

EnsembliENST00000218867; ENSP00000218867; ENSG00000102683.
GeneIDi6445.
KEGGihsa:6445.
UCSCiuc001uom.3. human.

Keywords - Coding sequence diversityi

Polymorphism

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, AL160256, AL356287 Genomic DNA. Translation: CAI13924.1.
AL356287, AL157766, AL160256 Genomic DNA. Translation: CAI16053.1.
AL160256, AL157766, AL356287 Genomic DNA. Translation: CAI16544.1.
BC074777 mRNA. Translation: AAH74777.1.
BC074778 mRNA. Translation: AAH74778.1.
BC109321 mRNA. Translation: AAI09322.1.
CCDSiCCDS9299.1.
RefSeqiNP_000222.1. NM_000231.2.
XP_005266562.1. XM_005266505.2.
UniGeneiHs.37167.

3D structure databases

ProteinModelPortaliQ13326.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112343. 2 interactors.
IntActiQ13326. 16 interactors.
MINTiMINT-118958.
STRINGi9606.ENSP00000218867.

PTM databases

PhosphoSitePlusiQ13326.

Polymorphism and mutation databases

BioMutaiSGCG.
DMDMi313104319.

Proteomic databases

PaxDbiQ13326.
PeptideAtlasiQ13326.
PRIDEiQ13326.

Protocols and materials databases

DNASUi6445.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000218867; ENSP00000218867; ENSG00000102683.
GeneIDi6445.
KEGGihsa:6445.
UCSCiuc001uom.3. human.

Organism-specific databases

CTDi6445.
DisGeNETi6445.
GeneCardsiSGCG.
HGNCiHGNC:10809. SGCG.
HPAiHPA007476.
HPA011922.
MalaCardsiSGCG.
MIMi253700. phenotype.
608896. gene.
neXtProtiNX_Q13326.
OpenTargetsiENSG00000102683.
Orphaneti353. Autosomal recessive limb-girdle muscular dystrophy type 2C.
PharmGKBiPA35720.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3950. Eukaryota.
ENOG4111GCH. LUCA.
GeneTreeiENSGT00390000017950.
HOGENOMiHOG000007853.
HOVERGENiHBG008669.
InParanoidiQ13326.
KOiK12564.
OMAiTTCQEHS.
OrthoDBiEOG091G11VY.
PhylomeDBiQ13326.
TreeFamiTF313538.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000102683-MONOMER.

Miscellaneous databases

ChiTaRSiSGCG. human.
GeneWikiiSGCG.
GenomeRNAii6445.
PROiQ13326.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000102683.
CleanExiHS_SGCG.
GenevisibleiQ13326. HS.

Family and domain databases

InterProiIPR006875. Sarcoglycan.
IPR027660. SGCG.
[Graphical view]
PANTHERiPTHR12939:SF4. PTHR12939:SF4. 1 hit.
PfamiPF04790. Sarcoglycan_1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSGCG_HUMAN
AccessioniPrimary (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: November 2, 2016
This is version 149 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
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, Reference proteome

Documents

  1. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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.