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Q13326 (SGCG_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 125. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Gamma-sarcoglycan

Short name=Gamma-SG
Alternative name(s):
35 kDa dystrophin-associated glycoprotein
Short name=35DAG
Gene names
Name:SGCG
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length291 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

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. Ref.5

Subcellular location

Cell membranesarcolemma; Single-pass type II membrane protein By similarity. Cytoplasmcytoskeleton By similarity.

Tissue specificity

Expressed in skeletal and heart muscle.

Involvement in disease

Limb-girdle muscular dystrophy 2C (LGMD2C) [MIM:253700]: An 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.2 Ref.6 Ref.7

Sequence similarities

Belongs to the sarcoglycan beta/delta/gamma/zeta family.

Binary interactions

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 291291Gamma-sarcoglycan
PRO_0000175248

Regions

Topological domain1 – 3737Cytoplasmic Potential
Transmembrane38 – 5821Helical; Signal-anchor for type II membrane protein; Potential
Topological domain59 – 291233Extracellular Potential

Amino acid modifications

Glycosylation1101N-linked (GlcNAc...) Potential
Disulfide bond265 ↔ 290 Potential
Disulfide bond267 ↔ 283 Potential

Natural variations

Natural variant691G → D in LGMD2C.
VAR_010430
Natural variant691G → R in LGMD2C. Ref.7
VAR_012202
Natural variant1161R → H. Ref.2
Corresponds to variant rs17314986 [ dbSNP | Ensembl ].
VAR_010397
Natural variant2831C → Y in LGMD2C. Ref.6
VAR_010398
Natural variant2871N → S. Ref.1 Ref.2 Ref.4
Corresponds to variant rs1800354 [ dbSNP | Ensembl ].
VAR_010399

Sequences

Sequence LengthMass (Da)Tools
Q13326 [UniParc].

Last modified November 30, 2010. Version 4.
Checksum: 6CF219706ABFB77B

FASTA29132,379
        10         20         30         40         50         60 
MVREQYTTAT EGICIERPEN QYVYKIGIYG WRKRCLYLFV LLLLIILVVN LALTIWILKV 

        70         80         90        100        110        120 
MWFSPAGMGH LCVTKDGLRL EGESEFLFPL YAKEIHSRVD SSLLLQSTQN VTVNARNSEG 

       130        140        150        160        170        180 
EVTGRLKVGP KMVEVQNQQF QINSNDGKPL FTVDEKEVVV GTDKLRVTGP EGALFEHSVE 

       190        200        210        220        230        240 
TPLVRADPFQ DLRLESPTRS LSMDAPRGVH IQAHAGKIEA LSQMDILFHS SDGMLVLDAE 

       250        260        270        280        290 
TVCLPKLVQG TWGPSGSSQS LYEICVCPDG KLYLSVAGVS TTCQEHNHIC L 

« Hide

References

« Hide 'large scale' references
[1]"Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy."
Noguchi S., McNally E.M., Othmane K.B., Hagiwara Y., Mizuno Y., Yoshida M., Yamamoto H., Boennemann C.G., Gussoni E., Denton P.H., Kyriakides T., Middleton L., Hentati F., Hamida M.B., Nonaka I., Vance J.M., Kunkel L.M., Ozawa E.
Science 270:819-822(1995) [PubMed] [Europe PMC] [Abstract]
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. expand/collapse author list , 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]"Filamin 2 (FLN2): a muscle-specific sarcoglycan interacting protein."
Thompson T.G., Chan Y.-M., Hack A.A., Brosius M., Rajala M., Lidov H.G.W., McNally E.M., Watkins S., Kunkel L.M.
J. Cell Biol. 148:115-126(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH FLNC.
[6]"A founder mutation in the gamma-sarcoglycan gene of Gypsies possibly predating their migration out of India."
Piccolo F., Jeanpierre M., Leturcq F., Dode C., Azibi K., Toutain A., Merlini L., Jarre L., Navarro C., Krishnamoorthy R., Tome F.M.S., Urtizberea J.A., Beckmann J.S., Campbell K.P., Kaplan J.-C.
Hum. Mol. Genet. 5:2019-2022(1996) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U34976 mRNA. Translation: AAC50269.1.
U63395 expand/collapse EMBL AC list , 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.
RefSeqNP_000222.1. NM_000231.2.
XP_005266562.1. XM_005266505.1.
UniGeneHs.37167.

3D structure databases

ProteinModelPortalQ13326.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112343. 4 interactions.
IntActQ13326. 16 interactions.
MINTMINT-118958.
STRING9606.ENSP00000218867.

Polymorphism databases

DMDM313104319.

Proteomic databases

PaxDbQ13326.
PRIDEQ13326.

Protocols and materials databases

DNASU6445.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000218867; ENSP00000218867; ENSG00000102683.
ENST00000537476; ENSP00000444100; ENSG00000102683.
ENST00000545013; ENSP00000442232; ENSG00000102683.
GeneID6445.
KEGGhsa:6445.
UCSCuc001uom.2. human.

Organism-specific databases

CTD6445.
GeneCardsGC13P023755.
HGNCHGNC:10809. SGCG.
HPAHPA007476.
HPA011922.
MIM253700. phenotype.
608896. gene.
neXtProtNX_Q13326.
Orphanet353. Autosomal recessive limb-girdle muscular dystrophy type 2C.
PharmGKBPA35720.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG318936.
HOGENOMHOG000007853.
HOVERGENHBG008669.
InParanoidQ13326.
KOK12564.
OMAVNARNSE.
OrthoDBEOG7SN8DC.
PhylomeDBQ13326.
TreeFamTF313538.

Gene expression databases

BgeeQ13326.
CleanExHS_SGCG.
GenevestigatorQ13326.

Family and domain databases

InterProIPR006875. Sarcoglycan.
IPR027660. SGCG.
[Graphical view]
PANTHERPTHR12939:SF4. PTHR12939:SF4. 1 hit.
PfamPF04790. Sarcoglycan_1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiSGCG.
GenomeRNAi6445.
NextBio25049.
PROQ13326.
SOURCESearch...

Entry information

Entry nameSGCG_HUMAN
AccessionPrimary (citable) accession number: Q13326
Secondary accession number(s): Q32M32, Q5T9J6
Entry history
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: November 30, 2010
Last modified: April 16, 2014
This is version 125 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 13

Human chromosome 13: entries, gene names and cross-references to MIM