Q13326 (SGCG_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Gamma-sarcoglycan
Short name=Gamma-SG

Alternative name(s):
35 kDa dystrophin-associated glycoprotein
Short name=35DAG

Gene names

Name:

SGCG

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	291 AA.
Sequence status	Complete.
Protein existence	Evidence 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 membrane › sarcolemma; Single-pass type II membrane protein By similarity. Cytoplasm › cytoskeleton 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, dystrophyc 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.

Ontologies

Keywords
Cellular component	Cell membrane Cytoplasm Cytoskeleton Membrane
Coding sequence diversity	Polymorphism
Disease	Disease mutation Limb-girdle muscular dystrophy
Domain	Signal-anchor Transmembrane Transmembrane helix
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cytoskeleton organization Inferred from electronic annotation. Source: InterPro muscle organ development Traceable author statement PubMed 8641426. Source: ProtInc
Cellular_component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-KW cytoskeleton Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW sarcoglycan complex Traceable author statement PubMed 8641426. Source: ProtInc sarcolemma Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
ACO1	P21399	2	EBI-5357343,EBI-2847111
DNAJB6	O75190	2	EBI-5357343,EBI-1053164
DYSF	O75923	3	EBI-5357343,EBI-2799016

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 291	291	Gamma-sarcoglycan		PRO_0000175248
Regions
	Topological domain	1 – 37	37	Cytoplasmic Potential
	Transmembrane	38 – 58	21	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	59 – 291	233	Extracellular Potential
Amino acid modifications
	Glycosylation	110	1	N-linked (GlcNAc...) Potential
	Disulfide bond	265 ↔ 290		Potential
	Disulfide bond	267 ↔ 283		Potential
Natural variations
	Natural variant	69	1	G → D in LGMD2C.		VAR_010430
	Natural variant	69	1	G → R in LGMD2C. Ref.7		VAR_012202
	Natural variant	116	1	R → H. Ref.2 Corresponds to variant rs17314986 [ dbSNP | Ensembl ].		VAR_010397
	Natural variant	283	1	C → Y in LGMD2C. Ref.6		VAR_010398
	Natural variant	287	1	N → S. Ref.1 Ref.2 Ref.4 Corresponds to variant rs1800354 [ dbSNP | Ensembl ].		VAR_010399

Sequences

	Sequence		Length	Mass (Da)
	Q13326 [UniParc]. Last modified November 30, 2010. Version 4. Checksum: 6CF219706ABFB77B	FASTA	291	32,379
	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

References

	« Hide 'large scale' referencesShow '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. , 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

Leiden Muscular Dystrophy pages

SGCG mutations in LGMD2C

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00218559.
RefSeq	NP_000222.1. NM_000231.2.
UniGene	Hs.37167.
3D structure databases
ProteinModelPortal	Q13326.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q13326. 15 interactions.
MINT	MINT-118958.
STRING	9606.ENSP00000218867.
Proteomic databases
PaxDb	Q13326.
PRIDE	Q13326.
Protocols and materials databases
DNASU	6445.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000218867; ENSP00000218867; ENSG00000102683. ENST00000537476; ENSP00000444100; ENSG00000102683. ENST00000545013; ENSP00000442232; ENSG00000102683.
GeneID	6445.
KEGG	hsa:6445.
UCSC	uc001uom.2. human.
Organism-specific databases
CTD	6445.
GeneCards	GC13P023755.
HGNC	HGNC:10809. SGCG.
HPA	HPA007476. HPA011922.
MIM	253700. phenotype. 608896. gene.
neXtProt	NX_Q13326.
Orphanet	353. Autosomal recessive limb-girdle muscular dystrophy type 2C.
PharmGKB	PA35720.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG318936.
HOGENOM	HOG000007853.
HOVERGEN	HBG008669.
InParanoid	Q13326.
KO	K12564.
OMA	LYEICVC.
OrthoDB	EOG4JWVF3.
PhylomeDB	Q13326.
Gene expression databases
Bgee	Q13326.
CleanEx	HS_SGCG.
Genevestigator	Q13326.
GermOnline	ENSG00000102683. Homo sapiens.
Family and domain databases
InterPro	IPR006875. Sarcoglycan. [Graphical view]
Pfam	PF04790. Sarcoglycan_1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	6445.
NextBio	25049.
SOURCE	Search...

Entry information

Entry name

SGCG_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 116 of the entry and version 4 of the sequence. [Complete history]

Entry status

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.