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UniProtKB - Q92629 (SGCD_HUMAN)

Protein

Delta-sarcoglycan

Gene

SGCD

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

  • heart contraction Source: GO_Central
  • muscle organ development Source: ProtInc
View the complete GO annotation on QuickGO ...

Enzyme and pathway databases

SIGNORiQ92629

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000170624.13
HGNCiHGNC:10807 SGCD
MIMi601411 gene
neXtProtiNX_Q92629

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 35CytoplasmicSequence analysisAdd BLAST35
Transmembranei36 – 56Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini57 – 289ExtracellularSequence analysisAdd BLAST233

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoskeleton, Membrane

Pathology & Biotechi

Involvement in diseasei

Limb-girdle muscular dystrophy 2F (LGMD2F)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:601287
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_010396261E → K in LGMD2F. 1 PublicationCorresponds to variant dbSNP:rs121909297Ensembl.1
Cardiomyopathy, dilated 1L (CMD1L)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
See also OMIM:606685
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_013181150S → A in CMD1L. 1 PublicationCorresponds to variant dbSNP:rs121909298Ensembl.1

Keywords - Diseasei

Cardiomyopathy, Disease mutation, Limb-girdle muscular dystrophy

Organism-specific databases

DisGeNETi6444
GeneReviewsiSGCD
MalaCardsiSGCD
MIMi601287 phenotype
606685 phenotype
OpenTargetsiENSG00000170624
Orphaneti219 Autosomal recessive limb-girdle muscular dystrophy type 2F
154 Familial isolated dilated cardiomyopathy
PharmGKBiPA35718

Polymorphism and mutation databases

BioMutaiSGCD
DMDMi212276471

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001752451 – 289Delta-sarcoglycanAdd BLAST289

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi60N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi108N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi263 ↔ 288Sequence analysis
Disulfide bondi265 ↔ 281Sequence analysis
Glycosylationi284N-linked (GlcNAc...) asparagineSequence analysis1

Post-translational modificationi

Glycosylated.
Disulfide bonds are present.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiQ92629
PaxDbiQ92629
PeptideAtlasiQ92629
PRIDEiQ92629
ProteomicsDBi75384
75385 [Q92629-2]
75386 [Q92629-3]

PTM databases

iPTMnetiQ92629
PhosphoSitePlusiQ92629

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

BgeeiENSG00000170624 Expressed in 207 organ(s), highest expression level in heart left ventricle
CleanExiHS_SGCD
ExpressionAtlasiQ92629 baseline and differential
GenevisibleiQ92629 HS

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, 7 interactors
CORUMiQ92629
IntActiQ92629, 5 interactors
MINTiQ92629
STRINGi9606.ENSP00000338343

Structurei

3D structure databases

ProteinModelPortaliQ92629
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

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

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3950 Eukaryota
ENOG4111GCH LUCA
GeneTreeiENSGT00390000017950
HOGENOMiHOG000007853
HOVERGENiHBG008669
InParanoidiQ92629
KOiK12563
OMAiIRSRPGN
OrthoDBiEOG091G11VY
PhylomeDBiQ92629
TreeFamiTF313538

Family and domain databases

InterProiView protein in InterPro
IPR006875 Sarcoglycan
IPR039972 Sarcoglycan_gamma/delta/zeta
IPR027661 SGCD
PANTHERiPTHR12939 PTHR12939, 1 hit
PTHR12939:SF6 PTHR12939:SF6, 1 hit
PfamiView protein in Pfam
PF04790 Sarcoglycan_1, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E5RI34E5RI34_HUMAN
Delta-sarcoglycan
SGCD
82Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01042996R → Q1 PublicationCorresponds to variant dbSNP:rs45559835Ensembl.1
Natural variantiVAR_013181150S → A in CMD1L. 1 PublicationCorresponds to variant dbSNP:rs121909298Ensembl.1
Natural variantiVAR_010396261E → K in LGMD2F. 1 PublicationCorresponds to variant dbSNP:rs121909297Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0392451M → MM in isoform 2 and isoform 3. 4 Publications1
Alternative sequenceiVSP_039246233 – 255IKLDA…TPTGT → VRDEKDRSSKSYSFNRPTLP ITG in isoform 3. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_039247256 – 289Missing in isoform 3. 1 PublicationAdd BLAST34

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_005266023.1, XM_005265966.4 [Q92629-2]
XP_011532923.1, XM_011534621.2 [Q92629-1]
XP_016865212.1, XM_017009723.1 [Q92629-2]
XP_016865213.1, XM_017009724.1 [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
UCSCiuc003lwc.5 human [Q92629-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

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
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_005266023.1, XM_005265966.4 [Q92629-2]
XP_011532923.1, XM_011534621.2 [Q92629-1]
XP_016865212.1, XM_017009723.1 [Q92629-2]
XP_016865213.1, XM_017009724.1 [Q92629-2]
UniGeneiHs.387207
Hs.644733

3D structure databases

ProteinModelPortaliQ92629
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112342, 7 interactors
CORUMiQ92629
IntActiQ92629, 5 interactors
MINTiQ92629
STRINGi9606.ENSP00000338343

PTM databases

iPTMnetiQ92629
PhosphoSitePlusiQ92629

Polymorphism and mutation databases

BioMutaiSGCD
DMDMi212276471

Proteomic databases

MaxQBiQ92629
PaxDbiQ92629
PeptideAtlasiQ92629
PRIDEiQ92629
ProteomicsDBi75384
75385 [Q92629-2]
75386 [Q92629-3]

Protocols and materials databases

DNASUi6444
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000337851; ENSP00000338343; ENSG00000170624 [Q92629-2]
ENST00000435422; ENSP00000403003; ENSG00000170624 [Q92629-1]
ENST00000517913; ENSP00000429378; ENSG00000170624 [Q92629-3]
GeneIDi6444
KEGGihsa:6444
UCSCiuc003lwc.5 human [Q92629-1]

Organism-specific databases

CTDi6444
DisGeNETi6444
EuPathDBiHostDB:ENSG00000170624.13
GeneCardsiSGCD
GeneReviewsiSGCD
HGNCiHGNC:10807 SGCD
HPAiHPA026969
MalaCardsiSGCD
MIMi601287 phenotype
601411 gene
606685 phenotype
neXtProtiNX_Q92629
OpenTargetsiENSG00000170624
Orphaneti219 Autosomal recessive limb-girdle muscular dystrophy type 2F
154 Familial isolated dilated cardiomyopathy
PharmGKBiPA35718
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3950 Eukaryota
ENOG4111GCH LUCA
GeneTreeiENSGT00390000017950
HOGENOMiHOG000007853
HOVERGENiHBG008669
InParanoidiQ92629
KOiK12563
OMAiIRSRPGN
OrthoDBiEOG091G11VY
PhylomeDBiQ92629
TreeFamiTF313538

Enzyme and pathway databases

SIGNORiQ92629

Miscellaneous databases

ChiTaRSiSGCD human
GeneWikiiDelta-sarcoglycan
SGCD
GenomeRNAii6444
PROiPR:Q92629
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000170624 Expressed in 207 organ(s), highest expression level in heart left ventricle
CleanExiHS_SGCD
ExpressionAtlasiQ92629 baseline and differential
GenevisibleiQ92629 HS

Family and domain databases

InterProiView protein in InterPro
IPR006875 Sarcoglycan
IPR039972 Sarcoglycan_gamma/delta/zeta
IPR027661 SGCD
PANTHERiPTHR12939 PTHR12939, 1 hit
PTHR12939:SF6 PTHR12939:SF6, 1 hit
PfamiView protein in Pfam
PF04790 Sarcoglycan_1, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSGCD_HUMAN
AccessioniPrimary (citable) accession number: Q92629
Secondary accession number(s): A8K9S9, Q53XA5, Q99644
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: November 4, 2008
Last modified: November 7, 2018
This is version 169 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
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