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Protein

Delta-sarcoglycan

Gene

SGCD

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q92629

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Delta-sarcoglycan
Short name:
Delta-SG
Alternative name(s):
35 kDa dystrophin-associated glycoprotein
Short name:
35DAG
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SGCD
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000170624.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:10807 SGCD

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
601411 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q92629

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 35CytoplasmicSequence analysisAdd BLAST35
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei36 – 56Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini57 – 289ExtracellularSequence analysisAdd BLAST233

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoskeleton, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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

DisGeNET

More...
DisGeNETi
6444

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
SGCD

MalaCards human disease database

More...
MalaCardsi
SGCD
MIMi601287 phenotype
606685 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000170624

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
219 Autosomal recessive limb-girdle muscular dystrophy type 2F
154 Familial isolated dilated cardiomyopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA35718

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SGCD

Domain mapping of disease mutations (DMDM)

More...
DMDMi
212276471

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001752451 – 289Delta-sarcoglycanAdd BLAST289

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi60N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi108N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi263 ↔ 288Sequence analysis
Disulfide bondi265 ↔ 281Sequence analysis
Glycosylationi284N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Glycosylated.
Disulfide bonds are present.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q92629

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q92629

PeptideAtlas

More...
PeptideAtlasi
Q92629

PRoteomics IDEntifications database

More...
PRIDEi
Q92629

ProteomicsDB human proteome resource

More...
ProteomicsDBi
75384
75385 [Q92629-2]
75386 [Q92629-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q92629

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q92629

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000170624 Expressed in 207 organ(s), highest expression level in heart left ventricle

CleanEx database of gene expression profiles

More...
CleanExi
HS_SGCD

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q92629 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q92629 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA026969

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
112342, 7 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q92629

Protein interaction database and analysis system

More...
IntActi
Q92629, 6 interactors

Molecular INTeraction database

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MINTi
Q92629

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000338343

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q92629

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3950 Eukaryota
ENOG4111GCH LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000158509

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000007853

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG008669

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q92629

KEGG Orthology (KO)

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KOi
K12563

Identification of Orthologs from Complete Genome Data

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OMAi
IRSRPGN

Database of Orthologous Groups

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OrthoDBi
EOG091G11VY

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q92629

TreeFam database of animal gene trees

More...
TreeFami
TF313538

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR006875 Sarcoglycan
IPR039972 Sarcoglycan_gamma/delta/zeta
IPR027661 SGCD

The PANTHER Classification System

More...
PANTHERi
PTHR12939 PTHR12939, 1 hit
PTHR12939:SF6 PTHR12939:SF6, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF04790 Sarcoglycan_1, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS47325.1 [Q92629-2]
CCDS47326.1 [Q92629-3]
CCDS47327.1 [Q92629-1]

NCBI Reference Sequences

More...
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_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]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.387207
Hs.644733

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000337851; ENSP00000338343; ENSG00000170624 [Q92629-2]
ENST00000435422; ENSP00000403003; ENSG00000170624 [Q92629-1]
ENST00000517913; ENSP00000429378; ENSG00000170624 [Q92629-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
6444

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:6444

UCSC genome browser

More...
UCSCi
uc003lwc.5 human [Q92629-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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, 6 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

The DNASU plasmid repository

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DNASUi
6444
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

Comparative Toxicogenomics Database

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CTDi
6444
DisGeNETi6444
EuPathDBiHostDB:ENSG00000170624.13

GeneCards: human genes, protein and diseases

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GeneCardsi
SGCD
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

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3950 Eukaryota
ENOG4111GCH LUCA
GeneTreeiENSGT00940000158509
HOGENOMiHOG000007853
HOVERGENiHBG008669
InParanoidiQ92629
KOiK12563
OMAiIRSRPGN
OrthoDBiEOG091G11VY
PhylomeDBiQ92629
TreeFamiTF313538

Enzyme and pathway databases

SIGNORiQ92629

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
SGCD human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
Delta-sarcoglycan
SGCD

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
6444

Protein Ontology

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PROi
PR:Q92629

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSGCD_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q92629
Secondary accession number(s): A8K9S9, Q53XA5, Q99644
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: November 4, 2008
Last modified: December 5, 2018
This is version 170 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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