Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q13326

- SGCG_HUMAN

UniProt

Q13326 - SGCG_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Gamma-sarcoglycan

Gene

SGCG

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. muscle organ development Source: ProtInc
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: Chromosome 13

Organism-specific databases

HGNCiHGNC:10809. SGCG.

Subcellular locationi

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

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-KW
  2. cytoskeleton Source: UniProtKB-KW
  3. integral component of membrane Source: UniProtKB-KW
  4. plasma membrane Source: ProtInc
  5. sarcoglycan complex Source: ProtInc
  6. sarcolemma Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoskeleton, Membrane

Pathology & Biotechi

Involvement in diseasei

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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
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.

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.
GenevestigatoriQ13326.

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...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 3737CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini59 – 291233ExtracellularSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei38 – 5821Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG318936.
GeneTreeiENSGT00390000017950.
HOGENOMiHOG000007853.
HOVERGENiHBG008669.
InParanoidiQ13326.
KOiK12564.
OMAiVNARNSE.
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:
EMBL
GenBank
DDBJ
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_005266505.1.
UniGeneiHs.37167.

Genome annotation databases

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

Polymorphism databases

DMDMi313104319.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Leiden Muscular Dystrophy pages

SGCG mutations in LGMD2C

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS9299.1.
RefSeqi NP_000222.1. NM_000231.2.
XP_005266562.1. XM_005266505.1.
UniGenei Hs.37167.

3D structure databases

ProteinModelPortali Q13326.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112343. 4 interactions.
IntActi Q13326. 16 interactions.
MINTi MINT-118958.
STRINGi 9606.ENSP00000218867.

Polymorphism databases

DMDMi 313104319.

Proteomic databases

PaxDbi Q13326.
PRIDEi Q13326.

Protocols and materials databases

DNASUi 6445.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000218867 ; ENSP00000218867 ; ENSG00000102683 .
GeneIDi 6445.
KEGGi hsa:6445.
UCSCi uc001uom.2. human.

Organism-specific databases

CTDi 6445.
GeneCardsi GC13P023755.
HGNCi HGNC:10809. SGCG.
HPAi HPA007476.
HPA011922.
MIMi 253700. phenotype.
608896. gene.
neXtProti NX_Q13326.
Orphaneti 353. Autosomal recessive limb-girdle muscular dystrophy type 2C.
PharmGKBi PA35720.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG318936.
GeneTreei ENSGT00390000017950.
HOGENOMi HOG000007853.
HOVERGENi HBG008669.
InParanoidi Q13326.
KOi K12564.
OMAi VNARNSE.
OrthoDBi EOG7SN8DC.
PhylomeDBi Q13326.
TreeFami TF313538.

Miscellaneous databases

GeneWikii SGCG.
GenomeRNAii 6445.
NextBioi 25049.
PROi Q13326.
SOURCEi Search...

Gene expression databases

Bgeei Q13326.
CleanExi HS_SGCG.
Genevestigatori Q13326.

Family and domain databases

InterProi IPR006875. Sarcoglycan.
IPR027660. SGCG.
[Graphical view ]
PANTHERi PTHR12939:SF4. PTHR12939:SF4. 1 hit.
Pfami PF04790. Sarcoglycan_1. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: October 29, 2014
This is version 130 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