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Q92629

- SGCD_HUMAN

UniProt

Q92629 - SGCD_HUMAN

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Protein

Delta-sarcoglycan

Gene

SGCD

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:
Delta-sarcoglycan
Short name:
Delta-SG
Alternative name(s):
35 kDa dystrophin-associated glycoprotein
Short name:
35DAG
Gene namesi
Name:SGCD
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Unplaced

Organism-specific databases

HGNCiHGNC:10807. SGCD.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 3535CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei36 – 5621Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
BLAST
Topological domaini57 – 289233ExtracellularSequence AnalysisAdd
BLAST

GO - Cellular componenti

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

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoskeleton, Membrane

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti261 – 2611E → K in LGMD2F. 1 Publication
VAR_010396
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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti150 – 1501S → A in CMD1L. 1 Publication
VAR_013181

Keywords - Diseasei

Cardiomyopathy, Disease mutation, Limb-girdle muscular dystrophy

Organism-specific databases

MIMi601287. phenotype.
606685. phenotype.
Orphaneti219. Autosomal recessive limb-girdle muscular dystrophy type 2F.
154. Familial isolated dilated cardiomyopathy.
PharmGKBiPA35718.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 289289Delta-sarcoglycanPRO_0000175245Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi60 – 601N-linked (GlcNAc...)Sequence Analysis
Glycosylationi108 – 1081N-linked (GlcNAc...)Sequence Analysis
Disulfide bondi263 ↔ 288Sequence Analysis
Disulfide bondi265 ↔ 281Sequence Analysis
Glycosylationi284 – 2841N-linked (GlcNAc...)Sequence Analysis

Post-translational modificationi

Glycosylated.
Disulfide bonds are present.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiQ92629.
PaxDbiQ92629.
PRIDEiQ92629.

PTM databases

PhosphoSiteiQ92629.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ92629.
CleanExiHS_SGCD.
ExpressionAtlasiQ92629. baseline and differential.
GenevestigatoriQ92629.

Organism-specific databases

HPAiHPA026969.

Interactioni

Subunit structurei

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).By similarity

Protein-protein interaction databases

BioGridi112342. 6 interactions.
IntActiQ92629. 3 interactions.
MINTiMINT-119001.
STRINGi9606.ENSP00000338343.

Structurei

3D structure databases

ProteinModelPortaliQ92629.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG318936.
GeneTreeiENSGT00390000017950.
HOGENOMiHOG000007853.
HOVERGENiHBG008669.
InParanoidiQ92629.
KOiK12563.
OMAiIRSRPGN.
OrthoDBiEOG7SN8DC.
PhylomeDBiQ92629.
TreeFamiTF313538.

Family and domain databases

InterProiIPR006875. Sarcoglycan.
IPR027661. SGCD.
[Graphical view]
PANTHERiPTHR12939:SF6. PTHR12939:SF6. 1 hit.
PfamiPF04790. Sarcoglycan_1. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q92629-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MPQEQYTHHR STMPGSVGPQ VYKVGIYGWR KRCLYFFVLL LMILILVNLA
60 70 80 90 100
MTIWILKVMN FTIDGMGNLR ITEKGLKLEG DSEFLQPLYA KEIQSRPGNA
110 120 130 140 150
LYFKSARNVT VNILNDQTKV LTQLITGPKA VEAYGKKFEV KTVSGKLLFS
160 170 180 190 200
ADNNEVVVGA ERLRVLGAEG TVFPKSIETP NVRADPFKEL RLESPTRSLV
210 220 230 240 250
MEAPKGVEIN AEAGNMEATC RTELRLESKD GEIKLDAAKI RLPRLPHGSY
260 270 280
TPTGTRQKVF EICVCANGRL FLSQAGAGST CQINTSVCL
Length:289
Mass (Da):32,071
Last modified:November 4, 2008 - v2
Checksum:iEB775E2427D260B7
GO
Isoform 2 (identifier: Q92629-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MM

Show »
Length:290
Mass (Da):32,203
Checksum:i905E9A9B75D83682
GO
Isoform 3 (identifier: Q92629-3) [UniParc]FASTAAdd to Basket

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

Show »
Length:256
Mass (Da):28,750
Checksum:i0C8B9E567462F713
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti96 – 961R → Q.1 Publication
Corresponds to variant rs1801194 [ dbSNP | Ensembl ].
VAR_010429
Natural varianti150 – 1501S → A in CMD1L. 1 Publication
VAR_013181
Natural varianti261 – 2611E → K in LGMD2F. 1 Publication
VAR_010396

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MM in isoform 2 and isoform 3. 4 PublicationsVSP_039245
Alternative sequencei233 – 25523IKLDA…TPTGT → VRDEKDRSSKSYSFNRPTLP ITG in isoform 3. 1 PublicationVSP_039246Add
BLAST
Alternative sequencei256 – 28934Missing in isoform 3. 1 PublicationVSP_039247Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS47325.1. [Q92629-2]
CCDS47326.1. [Q92629-3]
CCDS47327.1. [Q92629-1]
RefSeqiNP_000328.2. NM_000337.5. [Q92629-2]
NP_001121681.1. NM_001128209.1. [Q92629-1]
NP_758447.1. NM_172244.2. [Q92629-3]
XP_005266022.1. XM_005265965.2. [Q92629-2]
XP_005266023.1. XM_005265966.2. [Q92629-2]
XP_006714974.1. XM_006714911.1. [Q92629-2]
UniGeneiHs.387207.
Hs.644733.

Genome annotation databases

EnsembliENST00000337851; ENSP00000338343; ENSG00000170624. [Q92629-2]
ENST00000435422; ENSP00000403003; ENSG00000170624. [Q92629-1]
ENST00000517913; ENSP00000429378; ENSG00000170624. [Q92629-3]
GeneIDi6444.
KEGGihsa:6444.
UCSCiuc003lwa.1. human. [Q92629-3]
uc003lwc.4. human. [Q92629-2]
uc003lwd.4. human. [Q92629-1]

Polymorphism databases

DMDMi212276471.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Leiden Muscular Dystrophy pages

SGCD mutations in LGMD2F/CMD1L

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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 .
CCDSi CCDS47325.1. [Q92629-2 ]
CCDS47326.1. [Q92629-3 ]
CCDS47327.1. [Q92629-1 ]
RefSeqi NP_000328.2. NM_000337.5. [Q92629-2 ]
NP_001121681.1. NM_001128209.1. [Q92629-1 ]
NP_758447.1. NM_172244.2. [Q92629-3 ]
XP_005266022.1. XM_005265965.2. [Q92629-2 ]
XP_005266023.1. XM_005265966.2. [Q92629-2 ]
XP_006714974.1. XM_006714911.1. [Q92629-2 ]
UniGenei Hs.387207.
Hs.644733.

3D structure databases

ProteinModelPortali Q92629.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112342. 6 interactions.
IntActi Q92629. 3 interactions.
MINTi MINT-119001.
STRINGi 9606.ENSP00000338343.

PTM databases

PhosphoSitei Q92629.

Polymorphism databases

DMDMi 212276471.

Proteomic databases

MaxQBi Q92629.
PaxDbi Q92629.
PRIDEi Q92629.

Protocols and materials databases

DNASUi 6444.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000337851 ; ENSP00000338343 ; ENSG00000170624 . [Q92629-2 ]
ENST00000435422 ; ENSP00000403003 ; ENSG00000170624 . [Q92629-1 ]
ENST00000517913 ; ENSP00000429378 ; ENSG00000170624 . [Q92629-3 ]
GeneIDi 6444.
KEGGi hsa:6444.
UCSCi uc003lwa.1. human. [Q92629-3 ]
uc003lwc.4. human. [Q92629-2 ]
uc003lwd.4. human. [Q92629-1 ]

Organism-specific databases

CTDi 6444.
GeneCardsi GC05P155297.
GeneReviewsi SGCD.
HGNCi HGNC:10807. SGCD.
HPAi HPA026969.
MIMi 601287. phenotype.
601411. gene.
606685. phenotype.
neXtProti NX_Q92629.
Orphaneti 219. Autosomal recessive limb-girdle muscular dystrophy type 2F.
154. Familial isolated dilated cardiomyopathy.
PharmGKBi PA35718.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG318936.
GeneTreei ENSGT00390000017950.
HOGENOMi HOG000007853.
HOVERGENi HBG008669.
InParanoidi Q92629.
KOi K12563.
OMAi IRSRPGN.
OrthoDBi EOG7SN8DC.
PhylomeDBi Q92629.
TreeFami TF313538.

Miscellaneous databases

ChiTaRSi SGCD. human.
GeneWikii Delta-sarcoglycan.
SGCD.
GenomeRNAii 6444.
NextBioi 25043.
PROi Q92629.
SOURCEi Search...

Gene expression databases

Bgeei Q92629.
CleanExi HS_SGCD.
ExpressionAtlasi Q92629. baseline and differential.
Genevestigatori Q92629.

Family and domain databases

InterProi IPR006875. Sarcoglycan.
IPR027661. SGCD.
[Graphical view ]
PANTHERi PTHR12939:SF6. PTHR12939:SF6. 1 hit.
Pfami PF04790. Sarcoglycan_1. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. 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. 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. Cited for: INTERACTION WITH FLNC.

Entry informationi

Entry nameiSGCD_HUMAN
AccessioniPrimary (citable) accession number: Q92629
Secondary accession number(s): A8K9S9, Q53XA5, Q99644
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: November 4, 2008
Last modified: November 26, 2014
This is version 136 of the entry and version 2 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 5
    Human chromosome 5: 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