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SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) [ Homo sapiens (human) ]

Gene ID: 6444, updated on 19-Jul-2014
Official Symbol
SGCDprovided by HGNC
Official Full Name
sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)provided by HGNC
Primary source
HGNC:10807
See related
Ensembl:ENSG00000170624; HPRD:03246; MIM:601411; Vega:OTTHUMG00000163445
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SGD; DAGD; 35DAG; CMD1L; SGCDP; SG-delta
Summary
The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. Mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008]
See SGCD in Epigenomics, MapViewer
Location:
5q33-q34
Exon count :
14
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 5 NC_000005.10 (156035139..156767788)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (155462147..156194799)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene oligonucleotide/oligosaccharide-binding fold containing 1 pseudogene Neighboring gene peptidylprolyl isomerase G (cyclophilin G) pseudogene 1 Neighboring gene protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 3 Neighboring gene apolipoprotein O pseudogene 1 Neighboring gene T-cell immunoglobulin and mucin domain containing 4

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
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NHGRI GWA Catalog
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
NHGRI GWA Catalog
Genome-wide association study of anthropometric traits in Korcula Island, Croatia.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
  • Arrhythmogenic right ventricular cardiomyopathy, organism-specific biosystem (from WikiPathways)
    Arrhythmogenic right ventricular cardiomyopathy, organism-specific biosystemAdapted from KEGG: http://www.genome.jp/kegg/pathway/hsa/hsa05412.html
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
  • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
    Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • Dilated cardiomyopathy, conserved biosystem (from KEGG)
    Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • Viral myocarditis, organism-specific biosystem (from KEGG)
    Viral myocarditis, organism-specific biosystemMyocarditis is a cardiac disease associated with inflammation and injury of the myocardium. It results from various etiologies, both noninfectious and infectious, but coxsackievirus B3 (CVB3) is stil...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
muscle organ development TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
dystrophin-associated glycoprotein complex IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
PubMed 
sarcoglycan complex IEA
Inferred from Electronic Annotation
more info
 
sarcolemma IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
delta-sarcoglycan
Names
delta-sarcoglycan
delta-SG
placental delta sarcoglycan
35 kDa dystrophin-associated glycoprotein
dystrophin associated glycoprotein, delta sarcoglycan

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008693.2 

    Range
    461414..902446
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_205

mRNA and Protein(s)

  1. NM_000337.5NP_000328.2  delta-sarcoglycan isoform 1

    See proteins identical to NP_000328.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as SGCD1), encodes the longest isoform (1).
    Source sequence(s)
    AC025434, BC020740, BQ434817, BQ446019, BX537948
    Consensus CDS
    CCDS47325.1
    UniProtKB/Swiss-Prot
    Q92629
    Conserved Domains (1) summary
    pfam04790
    Location:22283
    Blast Score: 963
    Sarcoglycan_1; Sarcoglycan complex subunit protein
  2. NM_001128209.1NP_001121681.1  delta-sarcoglycan isoform 3

    See proteins identical to NP_001121681.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) is lacking an internal exon from the 5' end compared to transcript variant 1, resulting in translation initiation from the second in-frame AUG, and an isoform (3) missing 1 aa at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC025434, BC020740, BQ434817, BQ446019, BX537948, DA561069
    Consensus CDS
    CCDS47327.1
    UniProtKB/Swiss-Prot
    Q92629
    Related
    ENSP00000403003, OTTHUMP00000223946, ENST00000435422, OTTHUMT00000373469
    Conserved Domains (1) summary
    pfam04790
    Location:21282
    Blast Score: 963
    Sarcoglycan_1; Sarcoglycan complex subunit protein
  3. NM_172244.2NP_758447.1  delta-sarcoglycan isoform 2

    See proteins identical to NP_758447.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as SGCD2), contains an alternate 3' terminal exon compared to transcript variant 1. This results in a shorter isoform (2) with a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AI139498, BQ434817, U58331
    Consensus CDS
    CCDS47326.1
    UniProtKB/Swiss-Prot
    Q92629
    Related
    ENSP00000408324, ENST00000447401
    Conserved Domains (1) summary
    pfam04790
    Location:22235
    Blast Score: 767
    Sarcoglycan_1; Sarcoglycan complex subunit protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000005.10 

    Range
    156035139..156767788
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005265965.2XP_005266022.1  

    See proteins identical to XP_005266022.1

    UniProtKB/Swiss-Prot
    Q92629
    Conserved Domains (1) summary
    pfam04790
    Location:22283
    Blast Score: 963
    Sarcoglycan_1; Sarcoglycan complex subunit protein
  2. XM_006714911.1XP_006714974.1  

    See proteins identical to XP_006714974.1

    UniProtKB/Swiss-Prot
    Q92629
    Conserved Domains (1) summary
    pfam04790
    Location:22283
    Blast Score: 963
    Sarcoglycan_1; Sarcoglycan complex subunit protein
  3. XM_005265967.1XP_005266024.1  

    Conserved Domains (1) summary
    pfam04790
    Location:22168
    Blast Score: 499
    Sarcoglycan_1; Sarcoglycan complex subunit protein
  4. XM_006714912.1XP_006714975.1  

    Conserved Domains (1) summary
    pfam04790
    Location:22191
    Blast Score: 589
    Sarcoglycan_1; Sarcoglycan complex subunit protein
  5. XM_005265966.2XP_005266023.1  

    See proteins identical to XP_005266023.1

    UniProtKB/Swiss-Prot
    Q92629
    Conserved Domains (1) summary
    pfam04790
    Location:22283
    Blast Score: 963
    Sarcoglycan_1; Sarcoglycan complex subunit protein

Alternate HuRef

Genomic

  1. AC_000137.1 

    Range
    150847340..151288441
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 

    Range
    155186188..155627222
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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