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Q92629 (SGCD_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 131. 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·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Delta-sarcoglycan

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

Protein attributes

Sequence length289 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 FLNC and DAG1. 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. Ref.8

Subcellular location

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

Tissue specificity

Most strongly expressed in skeletal and cardiac muscle. Also detected in smooth muscle. Weak expression in brain and lung.

Post-translational modification

Glycosylated.

Disulfide bonds are present By similarity.

Involvement in disease

Limb-girdle muscular dystrophy 2F (LGMD2F) [MIM:601287]: An autosomal recessive degenerative myopathy initially affecting the proximal limb girdle musculature. Muscle from patients shows a complete loss of delta-sarcoglycan as well as of the others components of the sarcoglycan complex.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6

Cardiomyopathy, dilated 1L (CMD1L) [MIM:606685]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence similarities

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

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q92629-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q92629-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MM
Isoform 3 (identifier: Q92629-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MM
     233-255: IKLDAAKIRLPRLPHGSYTPTGT → VRDEKDRSSKSYSFNRPTLPITG
     256-289: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 289289Delta-sarcoglycan
PRO_0000175245

Regions

Topological domain1 – 3535Cytoplasmic Potential
Transmembrane36 – 5621Helical; Signal-anchor for type II membrane protein; Potential
Topological domain57 – 289233Extracellular Potential

Amino acid modifications

Glycosylation601N-linked (GlcNAc...) Potential
Glycosylation1081N-linked (GlcNAc...) Potential
Glycosylation2841N-linked (GlcNAc...) Potential
Disulfide bond263 ↔ 288 Potential
Disulfide bond265 ↔ 281 Potential

Natural variations

Alternative sequence11M → MM in isoform 2 and isoform 3.
VSP_039245
Alternative sequence233 – 25523IKLDA…TPTGT → VRDEKDRSSKSYSFNRPTLP ITG in isoform 3.
VSP_039246
Alternative sequence256 – 28934Missing in isoform 3.
VSP_039247
Natural variant961R → Q. Ref.1
Corresponds to variant rs1801194 [ dbSNP | Ensembl ].
VAR_010429
Natural variant1501S → A in CMD1L. Ref.7
VAR_013181
Natural variant2611E → K in LGMD2F. Ref.6
VAR_010396

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 4, 2008. Version 2.
Checksum: EB775E2427D260B7

FASTA28932,071
        10         20         30         40         50         60 
MPQEQYTHHR STMPGSVGPQ VYKVGIYGWR KRCLYFFVLL LMILILVNLA MTIWILKVMN 

        70         80         90        100        110        120 
FTIDGMGNLR ITEKGLKLEG DSEFLQPLYA KEIQSRPGNA LYFKSARNVT VNILNDQTKV 

       130        140        150        160        170        180 
LTQLITGPKA VEAYGKKFEV KTVSGKLLFS ADNNEVVVGA ERLRVLGAEG TVFPKSIETP 

       190        200        210        220        230        240 
NVRADPFKEL RLESPTRSLV MEAPKGVEIN AEAGNMEATC RTELRLESKD GEIKLDAAKI 

       250        260        270        280 
RLPRLPHGSY TPTGTRQKVF EICVCANGRL FLSQAGAGST CQINTSVCL 

« Hide

Isoform 2 [UniParc].

Checksum: 905E9A9B75D83682
Show »

FASTA29032,203
Isoform 3 [UniParc].

Checksum: 0C8B9E567462F713
Show »

FASTA25628,750

References

« Hide 'large scale' references
[1]"Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35kDa glycoprotein."
Nigro V., Piluso G., Belsito A., Politano L., Puca A.A., Papparella S., Rossi E., Viglietto G., Esposito M.G., Abbondanza C., Medici N., Molinari A.M., Nigro G., Puca G.A.
Hum. Mol. Genet. 5:1179-1186(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), VARIANT GLN-96.
Tissue: Skeletal muscle.
[2]"Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy."
Jung D., Duclos F., Apostol B., Straub V., Lee J.C., Allamand V., Venzke D.P., Sunada Y., Moomaw C.R., Leveille C.J., Slaughter C.A., Crawford T.O., McPherson J.D., Campbell K.P.
J. Biol. Chem. 271:32321-32329(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3).
Tissue: Placenta.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Trachea.
[4]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Retina.
[5]"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] (ISOFORM 2).
Tissue: Lung.
[6]"A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies."
Moreira E.S., Vainzof M., Marie S.K., Nigro V., Zatz M., Passos-Bueno M.R.
J. Med. Genet. 35:951-953(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LGMD2F LYS-261.
[7]"Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy."
Tsubata S., Bowles K.R., Vatta M., Zintz C., Titus J., Muhonen L., Bowles N.E., Towbin J.A.
J. Clin. Invest. 106:655-662(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMD1L ALA-150.
[8]"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.
+Additional computationally mapped references.

Web resources

Leiden Muscular Dystrophy pages

SGCD mutations in LGMD2F/CMD1L

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X95191 mRNA. Translation: CAA64490.1.
U58331 mRNA. Translation: AAC50921.1.
AK292794 mRNA. Translation: BAF85483.1.
BX537948 mRNA. Translation: CAD97916.1.
BC020740 mRNA. Translation: AAH20740.1.
RefSeqNP_000328.2. NM_000337.5.
NP_001121681.1. NM_001128209.1.
NP_758447.1. NM_172244.2.
XP_005266022.1. XM_005265965.2.
XP_005266023.1. XM_005265966.2.
UniGeneHs.387207.
Hs.644733.

3D structure databases

ProteinModelPortalQ92629.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112342. 2 interactions.
IntActQ92629. 3 interactions.
MINTMINT-119001.
STRING9606.ENSP00000338343.

PTM databases

PhosphoSiteQ92629.

Polymorphism databases

DMDM212276471.

Proteomic databases

PaxDbQ92629.
PRIDEQ92629.

Protocols and materials databases

DNASU6444.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000337851; ENSP00000338343; ENSG00000170624. [Q92629-2]
ENST00000435422; ENSP00000403003; ENSG00000170624. [Q92629-1]
ENST00000447401; ENSP00000408324; ENSG00000170624. [Q92629-3]
ENST00000517913; ENSP00000429378; ENSG00000170624. [Q92629-3]
GeneID6444.
KEGGhsa:6444.
UCSCuc003lwa.1. human. [Q92629-3]
uc003lwc.4. human. [Q92629-2]
uc003lwd.4. human. [Q92629-1]

Organism-specific databases

CTD6444.
GeneCardsGC05P155297.
HGNCHGNC:10807. SGCD.
HPAHPA026969.
MIM601287. phenotype.
601411. gene.
606685. phenotype.
neXtProtNX_Q92629.
Orphanet219. Autosomal recessive limb-girdle muscular dystrophy type 2F.
154. Familial isolated dilated cardiomyopathy.
PharmGKBPA35718.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG318936.
HOGENOMHOG000007853.
HOVERGENHBG008669.
InParanoidQ92629.
KOK12563.
OMARVMGAEG.
OrthoDBEOG7SN8DC.
PhylomeDBQ92629.
TreeFamTF313538.

Gene expression databases

ArrayExpressQ92629.
BgeeQ92629.
CleanExHS_SGCD.
GenevestigatorQ92629.

Family and domain databases

InterProIPR006875. Sarcoglycan.
IPR027661. SGCD.
[Graphical view]
PANTHERPTHR12939:SF6. PTHR12939:SF6. 1 hit.
PfamPF04790. Sarcoglycan_1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiDelta-sarcoglycan.
SGCD.
GenomeRNAi6444.
NextBio25043.
PROQ92629.
SOURCESearch...

Entry information

Entry nameSGCD_HUMAN
AccessionPrimary (citable) accession number: Q92629
Secondary accession number(s): A8K9S9, Q53XA5, Q99644
Entry history
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: November 4, 2008
Last modified: April 16, 2014
This is version 131 of the entry and version 2 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 5

Human chromosome 5: entries, gene names and cross-references to MIM