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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...

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
ProteomesiUP000005640 Componenti: Chromosome 13

Organism-specific databases

HGNCiHGNC:10809. SGCG.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 3737CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei38 – 5821Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
BLAST
Topological domaini59 – 291233ExtracellularSequence AnalysisAdd
BLAST

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti69 – 691G → D in LGMD2C.
VAR_010430
Natural varianti69 – 691G → R in LGMD2C. 1 Publication
VAR_012202
Natural varianti283 – 2831C → Y in LGMD2C. 1 Publication
VAR_010398

Keywords - Diseasei

Disease mutation, Limb-girdle muscular dystrophy

Organism-specific databases

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

Polymorphism and mutation databases

BioMutaiSGCG.
DMDMi313104319.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 291291Gamma-sarcoglycanPRO_0000175248Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi110 – 1101N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi265 ↔ 290Sequence Analysis
Disulfide bondi267 ↔ 283Sequence Analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ13326.
PRIDEiQ13326.

Expressioni

Tissue specificityi

Expressed in skeletal and heart muscle.

Gene expression databases

BgeeiQ13326.
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. 4 interactions.
IntActiQ13326. 16 interactions.
MINTiMINT-118958.
STRINGi9606.ENSP00000218867.

Structurei

3D structure databases

ProteinModelPortaliQ13326.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG318936.
GeneTreeiENSGT00390000017950.
HOGENOMiHOG000007853.
HOVERGENiHBG008669.
InParanoidiQ13326.
KOiK12564.
OMAiQAHAGKI.
OrthoDBiEOG7SN8DC.
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti69 – 691G → D in LGMD2C.
VAR_010430
Natural varianti69 – 691G → R in LGMD2C. 1 Publication
VAR_012202
Natural varianti116 – 1161R → H.1 Publication
Corresponds to variant rs17314986 [ dbSNP | Ensembl ].
VAR_010397
Natural varianti283 – 2831C → Y in LGMD2C. 1 Publication
VAR_010398
Natural varianti287 – 2871N → S.3 Publications
Corresponds to variant rs1800354 [ dbSNP | Ensembl ].
VAR_010399

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.2. 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. 4 interactions.
IntActiQ13326. 16 interactions.
MINTiMINT-118958.
STRINGi9606.ENSP00000218867.

Polymorphism and mutation databases

BioMutaiSGCG.
DMDMi313104319.

Proteomic databases

PaxDbiQ13326.
PRIDEiQ13326.

Protocols and materials databases

DNASUi6445.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000218867; ENSP00000218867; ENSG00000102683.
GeneIDi6445.
KEGGihsa:6445.
UCSCiuc001uom.2. human.

Organism-specific databases

CTDi6445.
GeneCardsiGC13P023755.
HGNCiHGNC:10809. SGCG.
HPAiHPA007476.
HPA011922.
MIMi253700. phenotype.
608896. gene.
neXtProtiNX_Q13326.
Orphaneti353. Autosomal recessive limb-girdle muscular dystrophy type 2C.
PharmGKBiPA35720.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG318936.
GeneTreeiENSGT00390000017950.
HOGENOMiHOG000007853.
HOVERGENiHBG008669.
InParanoidiQ13326.
KOiK12564.
OMAiQAHAGKI.
OrthoDBiEOG7SN8DC.
PhylomeDBiQ13326.
TreeFamiTF313538.

Miscellaneous databases

ChiTaRSiSGCG. human.
GeneWikiiSGCG.
GenomeRNAii6445.
NextBioi25049.
PROiQ13326.
SOURCEiSearch...

Gene expression databases

BgeeiQ13326.
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...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], DISEASE, VARIANT SER-287.
  2. "Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation."
    McNally E.M., Passos-Bueno M.R., Boennemann C.G., Vainzof M., de Sa Moreira E., Lidov H.G.W., Othmane K.B., Denton P.H., Vance J.M., Zatz M., Kunkel L.M.
    Am. J. Hum. Genet. 59:1040-1047(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], DISEASE, VARIANTS HIS-116 AND SER-287.
  3. "The DNA sequence and analysis of human chromosome 13."
    Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
    Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT SER-287.
  5. Cited for: INTERACTION WITH FLNC.
  6. Cited for: VARIANT LGMD2C TYR-283.
  7. "Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion."
    Nowak K.J., Walsh P., Jacob R.L., Johnsen R.D., Peverall J., McNally E.M., Wilton S.D., Kakulas B.A., Laing N.G.
    Neuromuscul. Disord. 10:100-107(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LGMD2C ARG-69.

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: July 22, 2015
This is version 136 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

External Data

Dasty 3

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 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.