Entity Details

Primary name SGCA_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ16586
EntryNameSGCA_HUMAN
FullNameAlpha-sarcoglycan
TaxID9606
Evidenceevidence at protein level
Length387
SequenceStatuscomplete
DateCreated2001-04-27
DateModified2021-06-02

Ontological Relatives

GenesSGCA

GO terms

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GOName
GO:0005509 calcium ion binding
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005911 cell-cell junction
GO:0006936 muscle contraction
GO:0007517 muscle organ development
GO:0014894 response to denervation involved in regulation of muscle adaptation
GO:0016010 dystrophin-associated glycoprotein complex
GO:0016012 sarcoglycan complex
GO:0016021 integral component of membrane
GO:0042383 sarcolemma
GO:0043403 skeletal muscle tissue regeneration
GO:0045121 membrane raft

Subcellular Location

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Subcellular Location
Cell membrane
Cytoplasm

Domains

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DomainNameCategoryType
IPR006644 Dystroglycan-type cadherin-likeDomainDomain
IPR008908 Sarcoglycan alpha/epsilonFamilyFamily
IPR015919 Cadherin-like superfamilyFamilyHomologous superfamily
IPR028658 Alpha-sarcoglycanFamilyFamily

Diseases

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Disease IDSourceNameDescription
608099 OMIMMuscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3)An autosomal recessive degenerative myopathy characterized by progressive muscle wasting from early childhood with loss of independent ambulation by teenage years. Muscle biopsy shows necrosis, decreased immunostaining for alpha sarcoglycan, and adhalin deficiency. The disease is caused by variants affecting the gene represented in this entry.