SGCA
entrez
6442
canonical
uniprot
Q16586
canonical
ensembl
ENSG00000108823
resolver
ensp
ENSP00000262018
resolver
ensp
ENSP00000345522
resolver
genesymbol
SGCA
resolver
genesymbol_syn
ADL
resolver
genesymbol_syn
DAG2
resolver
hgnc
HGNC:10805
resolver
uniprot
A0A0S2Z4P8
resolver
uniprot
A0A0S2Z4Q1
resolver
uniprot
A6NEB8
resolver
uniprot
A8K3K7
resolver
uniprot
Q13710
resolver
uniprot
Q13712
resolver
uniprot_entry
A0A0S2Z4P8_HUMAN
resolver
uniprot_entry
A0A0S2Z4Q1_HUMAN
resolver
uniprot_entry
SGCA_HUMAN
resolver
uniprot_sec
A6NEB8
resolver
uniprot_sec
A8K3K7
resolver
uniprot_sec
Q13710
resolver
uniprot_sec
Q13712
resolver
amino_acid_sequence
MAETLFWTPLLVVLLAGLGDTEAQQTTLHPLVGRVFVHTLDHETFLSLPEHVAVPPAVHITYHAHLQGHPDLPRWLRYTQRSPHHPGFLYGSATPEDRGLQVIEVTAYNRDSFDTTRQRLVLEIGDPEGPLLPYQAEFLVRSHDAEEVLPSTPASRFLSALGGLWEPGELQLLNVTSALDRGGRVPLPIEGRKEGVYIKVGSASPFSTCLKMVASPDSHARCAQGQPPLLSCYDTLAPHFRVDWCNVTLVDKSVPEPADEVPTPGDGILEHDPFFCPPTEAPDRDFLVDALVTLLVPLLVALLLTLLLAYVMCCRREGRLKRDLATSDIQMVHHCTIHGNTEELRQMAASREVPRPLSTLPMFNVHTGERLPPRVDSAQVPLILDQH
uniprot
proteins
disease_involvement
DISEASE: Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) [MIM:608099]: 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. {ECO:0000269|PubMed:18996010, ECO:0000269|PubMed:30345904, ECO:0000269|PubMed:7657792, ECO:0000269|PubMed:7663524, ECO:0000269|PubMed:8069911, ECO:0000269|PubMed:8528203, ECO:0000269|PubMed:9032047, ECO:0000269|PubMed:9192266, ECO:0000269|PubMed:9585331}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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.
uniprot
proteins
mass_dalton
42875
uniprot
proteins
protein_family
Sarcoglycan alpha/epsilon family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
18996010
uniprot
proteins
pubmed
30345904
uniprot
proteins
pubmed
7657792
uniprot
proteins
pubmed
7663524
uniprot
proteins
pubmed
7937874
uniprot
proteins
pubmed
8069911
uniprot
proteins
pubmed
8528203
uniprot
proteins
pubmed
9032047
uniprot
proteins
pubmed
9192266
uniprot
proteins
pubmed
9585331
uniprot
proteins
sequence_length
387
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane, sarcolemma {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 291..311; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins