Q92629 (SGCD_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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

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

Gene names

Name:

SGCD

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	289 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 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 membrane › sarcolemma; Single-pass type II membrane protein. Cytoplasm › cytoskeleton.
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.

Ontologies

Keywords
Cellular component	Cell membrane Cytoplasm Cytoskeleton Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Cardiomyopathy 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 8841194Ref.1. 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 8841194. Source: ProtInc sarcolemma Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 289	289	Delta-sarcoglycan		PRO_0000175245
Regions
	Topological domain	1 – 35	35	Cytoplasmic Potential
	Transmembrane	36 – 56	21	Helical; Signal-anchor for type II membrane protein; Potential
	Topological domain	57 – 289	233	Extracellular Potential
Amino acid modifications
	Glycosylation	60	1	N-linked (GlcNAc...) Potential
	Glycosylation	108	1	N-linked (GlcNAc...) Potential
	Glycosylation	284	1	N-linked (GlcNAc...) Potential
	Disulfide bond	263 ↔ 288		Potential
	Disulfide bond	265 ↔ 281		Potential
Natural variations
	Alternative sequence	1	1	M → MM in isoform 2 and isoform 3.		VSP_039245
	Alternative sequence	233 – 255	23	IKLDA…TPTGT → VRDEKDRSSKSYSFNRPTLP ITG in isoform 3.		VSP_039246
	Alternative sequence	256 – 289	34	Missing in isoform 3.		VSP_039247
	Natural variant	96	1	R → Q. Ref.1 Corresponds to variant rs1801194 [ dbSNP | Ensembl ].		VAR_010429
	Natural variant	150	1	S → A in CMD1L. Ref.7		VAR_013181
	Natural variant	261	1	E → K in LGMD2F. Ref.6		VAR_010396

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 4, 2008. Version 2. Checksum: EB775E2427D260B7	FASTA	289	32,071
	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
	Isoform 2 [UniParc]. Checksum: 905E9A9B75D83682	FASTA	290	32,203
	10 20 30 40 50 60 MMPQEQYTHH RSTMPGSVGP QVYKVGIYGW RKRCLYFFVL LLMILILVNL AMTIWILKVM 70 80 90 100 110 120 NFTIDGMGNL RITEKGLKLE GDSEFLQPLY AKEIQSRPGN ALYFKSARNV TVNILNDQTK 130 140 150 160 170 180 VLTQLITGPK AVEAYGKKFE VKTVSGKLLF SADNNEVVVG AERLRVLGAE GTVFPKSIET 190 200 210 220 230 240 PNVRADPFKE LRLESPTRSL VMEAPKGVEI NAEAGNMEAT CRTELRLESK DGEIKLDAAK 250 260 270 280 290 IRLPRLPHGS YTPTGTRQKV FEICVCANGR LFLSQAGAGS TCQINTSVCL
	Isoform 3 [UniParc]. Checksum: 0C8B9E567462F713	FASTA	256	28,750
	10 20 30 40 50 60 MMPQEQYTHH RSTMPGSVGP QVYKVGIYGW RKRCLYFFVL LLMILILVNL AMTIWILKVM 70 80 90 100 110 120 NFTIDGMGNL RITEKGLKLE GDSEFLQPLY AKEIQSRPGN ALYFKSARNV TVNILNDQTK 130 140 150 160 170 180 VLTQLITGPK AVEAYGKKFE VKTVSGKLLF SADNNEVVVG AERLRVLGAE GTVFPKSIET 190 200 210 220 230 240 PNVRADPFKE LRLESPTRSL VMEAPKGVEI NAEAGNMEAT CRTELRLESK DGEVRDEKDR 250 SSKSYSFNRP TLPITG

References

	« Hide 'large scale' referencesShow '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. , 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.
IPI	IPI00294216. IPI00373875. IPI00746318.
RefSeq	NP_000328.2. NM_000337.5. NP_001121681.1. NM_001128209.1. NP_758447.1. NM_172244.2.
UniGene	Hs.387207. Hs.644733.
3D structure databases
ProteinModelPortal	Q92629.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q92629. 2 interactions.
MINT	MINT-119001.
STRING	9606.ENSP00000338343.
PTM databases
PhosphoSite	Q92629.
Polymorphism databases
DMDM	212276471.
Proteomic databases
PaxDb	Q92629.
PRIDE	Q92629.
Protocols and materials databases
DNASU	6444.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000337851; ENSP00000338343; ENSG00000170624. ENST00000435422; ENSP00000403003; ENSG00000170624. ENST00000447401; ENSP00000408324; ENSG00000170624. ENST00000517913; ENSP00000429378; ENSG00000170624.
GeneID	6444.
KEGG	hsa:6444.
UCSC	uc003lwa.1. human. uc003lwc.4. human. uc003lwd.4. human.
Organism-specific databases
CTD	6444.
GeneCards	GC05P155297.
HGNC	HGNC:10807. SGCD.
HPA	HPA026969.
MIM	601287. phenotype. 601411. gene. 606685. phenotype.
neXtProt	NX_Q92629.
Orphanet	219. Autosomal recessive limb-girdle muscular dystrophy type 2F. 154. Familial isolated dilated cardiomyopathy.
PharmGKB	PA35718.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG318936.
HOGENOM	HOG000007853.
HOVERGEN	HBG008669.
InParanoid	Q92629.
KO	K12563.
OMA	IRSRPGN.
OrthoDB	EOG4GXFNC.
PhylomeDB	Q92629.
Gene expression databases
ArrayExpress	Q92629.
Bgee	Q92629.
CleanEx	HS_SGCD.
Genevestigator	Q92629.
Family and domain databases
InterPro	IPR006875. Sarcoglycan. [Graphical view]
Pfam	PF04790. Sarcoglycan_1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	6444.
NextBio	25043.
SOURCE	Search...

Entry information

Entry name

SGCD_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 123 of the entry and version 2 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.