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Protein

Alpha-sarcoglycan

Gene

SGCA

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 - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

SIGNORiQ16586

Names & Taxonomyi

Protein namesi
Recommended name:
Alpha-sarcoglycan
Short name:
Alpha-SG
Alternative name(s):
50 kDa dystrophin-associated glycoprotein
Short name:
50DAG
Adhalin
Dystroglycan-2
Gene namesi
Name:SGCA
Synonyms:ADL, DAG2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000108823.15
HGNCiHGNC:10805 SGCA
MIMi600119 gene
neXtProtiNX_Q16586

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 domaini24 – 290ExtracellularSequence analysisAdd BLAST267
Transmembranei291 – 311HelicalSequence analysisAdd BLAST21
Topological domaini312 – 387CytoplasmicSequence analysisAdd BLAST76

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoskeleton, Membrane

Pathology & Biotechi

Involvement in diseasei

Limb-girdle muscular dystrophy 2D (LGMD2D)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:608099
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01040230P → L in LGMD2D. 1 PublicationCorresponds to variant dbSNP:rs886043256EnsemblClinVar.1
Natural variantiVAR_01040331L → P in LGMD2D. Corresponds to variant dbSNP:rs903823830EnsemblClinVar.1
Natural variantiVAR_01040434R → C in LGMD2D. 1 PublicationCorresponds to variant dbSNP:rs758647756EnsemblClinVar.1
Natural variantiVAR_01040534R → H in LGMD2D. 1 PublicationCorresponds to variant dbSNP:rs371675217EnsemblClinVar.1
Natural variantiVAR_01040662Y → H in LGMD2D. 1 Publication1
Natural variantiVAR_01040768G → E in LGMD2D. 1 Publication1
Natural variantiVAR_01040874R → W in LGMD2D. Corresponds to variant dbSNP:rs757888349EnsemblClinVar.1
Natural variantiVAR_01038777R → C in LGMD2D. 5 PublicationsCorresponds to variant dbSNP:rs28933693EnsemblClinVar.1
Natural variantiVAR_01040989L → P in LGMD2D. 1
Natural variantiVAR_01041091G → R in LGMD2D. 1 Publication1
Natural variantiVAR_01041193A → V in LGMD2D. 1 Publication1
Natural variantiVAR_01041297D → G in LGMD2D. 1 Publication1
Natural variantiVAR_01041398R → C in LGMD2D. Corresponds to variant dbSNP:rs138945081EnsemblClinVar.1
Natural variantiVAR_01038898R → H in LGMD2D. 2 PublicationsCorresponds to variant dbSNP:rs137852621EnsemblClinVar.1
Natural variantiVAR_010414103I → T in LGMD2D. 1
Natural variantiVAR_010415124I → T in LGMD2D. 2 PublicationsCorresponds to variant dbSNP:rs768814872EnsemblClinVar.1
Natural variantiVAR_037965136A → APGAQP in LGMD2D; associated with G-137. 1
Natural variantiVAR_037966137E → G in LGMD2D; associated with P-G-A-Q-P-136 ins. 1 PublicationCorresponds to variant dbSNP:rs397514451EnsemblClinVar.1
Natural variantiVAR_010416137E → K in LGMD2D. 1 PublicationCorresponds to variant dbSNP:rs372210292EnsemblClinVar.1
Natural variantiVAR_010417158L → F in LGMD2D. 1 Publication1
Natural variantiVAR_010431173L → P in LGMD2D. 2 PublicationsCorresponds to variant dbSNP:rs143962150EnsemblClinVar.1
Natural variantiVAR_010389175V → A in LGMD2D. 1 PublicationCorresponds to variant dbSNP:rs137852622EnsemblClinVar.1
Natural variantiVAR_010418196V → I in LGMD2D. 1 PublicationCorresponds to variant dbSNP:rs752695991EnsemblClinVar.1
Natural variantiVAR_010419205P → H in LGMD2D. 1 PublicationCorresponds to variant dbSNP:rs757481230EnsemblClinVar.1
Natural variantiVAR_010432228P → Q in LGMD2D. 1
Natural variantiVAR_010420242V → A in LGMD2D. Corresponds to variant dbSNP:rs1384158714Ensembl.1
Natural variantiVAR_010433247V → M in LGMD2D. Corresponds to variant dbSNP:rs143570936EnsemblClinVar.1
Natural variantiVAR_010390284R → C in LGMD2D. 2 PublicationsCorresponds to variant dbSNP:rs137852623EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Limb-girdle muscular dystrophy

Organism-specific databases

DisGeNETi6442
GeneReviewsiSGCA
MalaCardsiSGCA
MIMi608099 phenotype
OpenTargetsiENSG00000108823
Orphaneti62 Autosomal recessive limb-girdle muscular dystrophy type 2D
PharmGKBiPA35716

Polymorphism and mutation databases

BioMutaiSGCA

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 23Sequence analysisAdd BLAST23
ChainiPRO_000003167324 – 387Alpha-sarcoglycanAdd BLAST364

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi174N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi246N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei377PhosphoserineBy similarity1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ16586
PeptideAtlasiQ16586
PRIDEiQ16586
ProteomicsDBi60931
60932 [Q16586-2]

PTM databases

PhosphoSitePlusiQ16586

Expressioni

Tissue specificityi

Most strongly expressed in skeletal muscle. Also expressed in cardiac muscle and, at much lower levels, in lung. In the fetus, most abundant in cardiac muscle and, at lower levels, in lung. Also detected in liver and kidney. Not expressed in brain.

Gene expression databases

BgeeiENSG00000108823 Expressed in 121 organ(s), highest expression level in gastrocnemius
CleanExiHS_SGCA
ExpressionAtlasiQ16586 baseline and differential
GenevisibleiQ16586 HS

Organism-specific databases

HPAiHPA007537

Interactioni

Subunit structurei

Interacts with the syntrophin SNTA1. 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

Binary interactionsi

WithEntry#Exp.IntActNotes
SGTAO4376512EBI-5663553,EBI-347996

Protein-protein interaction databases

BioGridi112340, 13 interactors
CORUMiQ16586
IntActiQ16586, 6 interactors
MINTiQ16586
STRINGi9606.ENSP00000262018

Structurei

3D structure databases

ProteinModelPortaliQ16586
SMRiQ16586
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the sarcoglycan alpha/epsilon family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4482 Eukaryota
ENOG4110FPC LUCA
GeneTreeiENSGT00390000005672
HOGENOMiHOG000074154
HOVERGENiHBG006891
InParanoidiQ16586
KOiK12565
OMAiMSSTVQM
OrthoDBiEOG091G07H7
PhylomeDBiQ16586
TreeFamiTF314655

Family and domain databases

InterProiView protein in InterPro
IPR028658 Alpha-SG
IPR006644 Cadg
IPR015919 Cadherin-like_sf
IPR008908 Sarcoglycan_alpha/epsilon
PANTHERiPTHR10132 PTHR10132, 1 hit
PTHR10132:SF16 PTHR10132:SF16, 1 hit
PfamiView protein in Pfam
PF05510 Sarcoglycan_2, 1 hit
SMARTiView protein in SMART
SM00736 CADG, 1 hit
SUPFAMiSSF49313 SSF49313, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform SGCA-1 (identifier: Q16586-1) [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
MAETLFWTPL LVVLLAGLGD TEAQQTTLHP LVGRVFVHTL DHETFLSLPE
60 70 80 90 100
HVAVPPAVHI TYHAHLQGHP DLPRWLRYTQ RSPHHPGFLY GSATPEDRGL
110 120 130 140 150
QVIEVTAYNR DSFDTTRQRL VLEIGDPEGP LLPYQAEFLV RSHDAEEVLP
160 170 180 190 200
STPASRFLSA LGGLWEPGEL QLLNVTSALD RGGRVPLPIE GRKEGVYIKV
210 220 230 240 250
GSASPFSTCL KMVASPDSHA RCAQGQPPLL SCYDTLAPHF RVDWCNVTLV
260 270 280 290 300
DKSVPEPADE VPTPGDGILE HDPFFCPPTE APDRDFLVDA LVTLLVPLLV
310 320 330 340 350
ALLLTLLLAY VMCCRREGRL KRDLATSDIQ MVHHCTIHGN TEELRQMAAS
360 370 380
REVPRPLSTL PMFNVHTGER LPPRVDSAQV PLILDQH
Length:387
Mass (Da):42,875
Last modified:November 1, 1996 - v1
Checksum:i9CD0270A00BE03E6
GO
Isoform SGCA-2 (identifier: Q16586-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     196-319: Missing.

Show »
Length:263
Mass (Da):29,354
Checksum:iA5437E496658776B
GO

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PCT8E9PCT8_HUMAN
Alpha-sarcoglycan
SGCA
298Annotation score:
H0Y8T1H0Y8T1_HUMAN
Alpha-sarcoglycan
SGCA
160Annotation score:
D6RAA4D6RAA4_HUMAN
Alpha-sarcoglycan
SGCA
61Annotation score:
H7C5V0H7C5V0_HUMAN
Alpha-sarcoglycan
SGCA
196Annotation score:
H0YAB9H0YAB9_HUMAN
Alpha-sarcoglycan
SGCA
58Annotation score:
D6R9S3D6R9S3_HUMAN
Alpha-sarcoglycan
SGCA
65Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01040230P → L in LGMD2D. 1 PublicationCorresponds to variant dbSNP:rs886043256EnsemblClinVar.1
Natural variantiVAR_01040331L → P in LGMD2D. Corresponds to variant dbSNP:rs903823830EnsemblClinVar.1
Natural variantiVAR_01040434R → C in LGMD2D. 1 PublicationCorresponds to variant dbSNP:rs758647756EnsemblClinVar.1
Natural variantiVAR_01040534R → H in LGMD2D. 1 PublicationCorresponds to variant dbSNP:rs371675217EnsemblClinVar.1
Natural variantiVAR_01040662Y → H in LGMD2D. 1 Publication1
Natural variantiVAR_01040768G → E in LGMD2D. 1 Publication1
Natural variantiVAR_01040874R → W in LGMD2D. Corresponds to variant dbSNP:rs757888349EnsemblClinVar.1
Natural variantiVAR_01038777R → C in LGMD2D. 5 PublicationsCorresponds to variant dbSNP:rs28933693EnsemblClinVar.1
Natural variantiVAR_01040989L → P in LGMD2D. 1
Natural variantiVAR_01041091G → R in LGMD2D. 1 Publication1
Natural variantiVAR_01041193A → V in LGMD2D. 1 Publication1
Natural variantiVAR_01041297D → G in LGMD2D. 1 Publication1
Natural variantiVAR_01041398R → C in LGMD2D. Corresponds to variant dbSNP:rs138945081EnsemblClinVar.1
Natural variantiVAR_01038898R → H in LGMD2D. 2 PublicationsCorresponds to variant dbSNP:rs137852621EnsemblClinVar.1
Natural variantiVAR_010414103I → T in LGMD2D. 1
Natural variantiVAR_010415124I → T in LGMD2D. 2 PublicationsCorresponds to variant dbSNP:rs768814872EnsemblClinVar.1
Natural variantiVAR_037965136A → APGAQP in LGMD2D; associated with G-137. 1
Natural variantiVAR_037966137E → G in LGMD2D; associated with P-G-A-Q-P-136 ins. 1 PublicationCorresponds to variant dbSNP:rs397514451EnsemblClinVar.1
Natural variantiVAR_010416137E → K in LGMD2D. 1 PublicationCorresponds to variant dbSNP:rs372210292EnsemblClinVar.1
Natural variantiVAR_010417158L → F in LGMD2D. 1 Publication1
Natural variantiVAR_010431173L → P in LGMD2D. 2 PublicationsCorresponds to variant dbSNP:rs143962150EnsemblClinVar.1
Natural variantiVAR_010389175V → A in LGMD2D. 1 PublicationCorresponds to variant dbSNP:rs137852622EnsemblClinVar.1
Natural variantiVAR_010418196V → I in LGMD2D. 1 PublicationCorresponds to variant dbSNP:rs752695991EnsemblClinVar.1
Natural variantiVAR_010419205P → H in LGMD2D. 1 PublicationCorresponds to variant dbSNP:rs757481230EnsemblClinVar.1
Natural variantiVAR_010432228P → Q in LGMD2D. 1
Natural variantiVAR_010420242V → A in LGMD2D. Corresponds to variant dbSNP:rs1384158714Ensembl.1
Natural variantiVAR_010433247V → M in LGMD2D. Corresponds to variant dbSNP:rs143570936EnsemblClinVar.1
Natural variantiVAR_010390284R → C in LGMD2D. 2 PublicationsCorresponds to variant dbSNP:rs137852623EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_006017196 – 319Missing in isoform SGCA-2. CuratedAdd BLAST124

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U08895 mRNA Translation: AAA81637.1
L34355 mRNA Translation: AAA35510.1
L35853 mRNA Translation: AAA50461.1
AK290622 mRNA Translation: BAF83311.1
AC015909 Genomic DNA No translation available.
CH471109 Genomic DNA Translation: EAW94635.1
BC025702 mRNA Translation: AAH25702.1
L46810 mRNA Translation: AAC37583.1
CCDSiCCDS32679.1 [Q16586-1]
CCDS45729.1 [Q16586-2]
PIRiA54746
RefSeqiNP_000014.1, NM_000023.3 [Q16586-1]
NP_001129169.1, NM_001135697.2 [Q16586-2]
UniGeneiHs.463412

Genome annotation databases

EnsembliENST00000262018; ENSP00000262018; ENSG00000108823 [Q16586-1]
ENST00000344627; ENSP00000345522; ENSG00000108823 [Q16586-2]
GeneIDi6442
KEGGihsa:6442
UCSCiuc002iqi.4 human [Q16586-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Web resourcesi

Leiden Muscular Dystrophy pages

SGCA mutations in LGMD2D

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U08895 mRNA Translation: AAA81637.1
L34355 mRNA Translation: AAA35510.1
L35853 mRNA Translation: AAA50461.1
AK290622 mRNA Translation: BAF83311.1
AC015909 Genomic DNA No translation available.
CH471109 Genomic DNA Translation: EAW94635.1
BC025702 mRNA Translation: AAH25702.1
L46810 mRNA Translation: AAC37583.1
CCDSiCCDS32679.1 [Q16586-1]
CCDS45729.1 [Q16586-2]
PIRiA54746
RefSeqiNP_000014.1, NM_000023.3 [Q16586-1]
NP_001129169.1, NM_001135697.2 [Q16586-2]
UniGeneiHs.463412

3D structure databases

ProteinModelPortaliQ16586
SMRiQ16586
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112340, 13 interactors
CORUMiQ16586
IntActiQ16586, 6 interactors
MINTiQ16586
STRINGi9606.ENSP00000262018

PTM databases

PhosphoSitePlusiQ16586

Polymorphism and mutation databases

BioMutaiSGCA

Proteomic databases

PaxDbiQ16586
PeptideAtlasiQ16586
PRIDEiQ16586
ProteomicsDBi60931
60932 [Q16586-2]

Protocols and materials databases

DNASUi6442
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262018; ENSP00000262018; ENSG00000108823 [Q16586-1]
ENST00000344627; ENSP00000345522; ENSG00000108823 [Q16586-2]
GeneIDi6442
KEGGihsa:6442
UCSCiuc002iqi.4 human [Q16586-1]

Organism-specific databases

CTDi6442
DisGeNETi6442
EuPathDBiHostDB:ENSG00000108823.15
GeneCardsiSGCA
GeneReviewsiSGCA
HGNCiHGNC:10805 SGCA
HPAiHPA007537
MalaCardsiSGCA
MIMi600119 gene
608099 phenotype
neXtProtiNX_Q16586
OpenTargetsiENSG00000108823
Orphaneti62 Autosomal recessive limb-girdle muscular dystrophy type 2D
PharmGKBiPA35716
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4482 Eukaryota
ENOG4110FPC LUCA
GeneTreeiENSGT00390000005672
HOGENOMiHOG000074154
HOVERGENiHBG006891
InParanoidiQ16586
KOiK12565
OMAiMSSTVQM
OrthoDBiEOG091G07H7
PhylomeDBiQ16586
TreeFamiTF314655

Enzyme and pathway databases

SIGNORiQ16586

Miscellaneous databases

ChiTaRSiSGCA human
GeneWikiiSGCA
GenomeRNAii6442
PROiPR:Q16586
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000108823 Expressed in 121 organ(s), highest expression level in gastrocnemius
CleanExiHS_SGCA
ExpressionAtlasiQ16586 baseline and differential
GenevisibleiQ16586 HS

Family and domain databases

InterProiView protein in InterPro
IPR028658 Alpha-SG
IPR006644 Cadg
IPR015919 Cadherin-like_sf
IPR008908 Sarcoglycan_alpha/epsilon
PANTHERiPTHR10132 PTHR10132, 1 hit
PTHR10132:SF16 PTHR10132:SF16, 1 hit
PfamiView protein in Pfam
PF05510 Sarcoglycan_2, 1 hit
SMARTiView protein in SMART
SM00736 CADG, 1 hit
SUPFAMiSSF49313 SSF49313, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSGCA_HUMAN
AccessioniPrimary (citable) accession number: Q16586
Secondary accession number(s): A6NEB8
, A8K3K7, Q13710, Q13712
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: November 1, 1996
Last modified: November 7, 2018
This is version 176 of the entry and version 1 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 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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