Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Alpha-sarcoglycan

Gene

SGCA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

  • membrane organization Source: GO_Central
  • muscle contraction Source: ProtInc
  • muscle organ development Source: ProtInc
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000108823-MONOMER.

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

HGNCiHGNC:10805. SGCA.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini24 – 290ExtracellularSequence analysisAdd BLAST267
Transmembranei291 – 311HelicalSequence analysisAdd BLAST21
Topological domaini312 – 387CytoplasmicSequence analysisAdd BLAST76

GO - Cellular componenti

Complete GO annotation...

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 Publication1
Natural variantiVAR_01040331L → P in LGMD2D. 1
Natural variantiVAR_01040434R → C in LGMD2D. 1 PublicationCorresponds to variant rs758647756dbSNPEnsembl.1
Natural variantiVAR_01040534R → H in LGMD2D. 1 PublicationCorresponds to variant rs371675217dbSNPEnsembl.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 rs757888349dbSNPEnsembl.1
Natural variantiVAR_01038777R → C in LGMD2D. 5 PublicationsCorresponds to variant rs28933693dbSNPEnsembl.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 rs138945081dbSNPEnsembl.1
Natural variantiVAR_01038898R → H in LGMD2D. 2 PublicationsCorresponds to variant rs137852621dbSNPEnsembl.1
Natural variantiVAR_010414103I → T in LGMD2D. 1
Natural variantiVAR_010415124I → T in LGMD2D. 2 PublicationsCorresponds to variant rs768814872dbSNPEnsembl.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 rs28933694dbSNPEnsembl.1
Natural variantiVAR_010416137E → K in LGMD2D. 1 PublicationCorresponds to variant rs372210292dbSNPEnsembl.1
Natural variantiVAR_010417158L → F in LGMD2D. 1 Publication1
Natural variantiVAR_010431173L → P in LGMD2D. 2 PublicationsCorresponds to variant rs143962150dbSNPEnsembl.1
Natural variantiVAR_010389175V → A in LGMD2D. 1 PublicationCorresponds to variant rs137852622dbSNPEnsembl.1
Natural variantiVAR_010418196V → I in LGMD2D. 1 Publication1
Natural variantiVAR_010419205P → H in LGMD2D. 1 PublicationCorresponds to variant rs757481230dbSNPEnsembl.1
Natural variantiVAR_010432228P → Q in LGMD2D. 1
Natural variantiVAR_010420242V → A in LGMD2D. 1
Natural variantiVAR_010433247V → M in LGMD2D. Corresponds to variant rs143570936dbSNPEnsembl.1
Natural variantiVAR_010390284R → C in LGMD2D. 2 PublicationsCorresponds to variant rs137852623dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Limb-girdle muscular dystrophy

Organism-specific databases

DisGeNETi6442.
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...)Sequence analysis1
Glycosylationi246N-linked (GlcNAc...)Sequence analysis1
Modified residuei377PhosphoserineBy similarity1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ16586.
PeptideAtlasiQ16586.
PRIDEiQ16586.

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.
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
SGTAO437656EBI-5663553,EBI-347996

Protein-protein interaction databases

BioGridi112340. 12 interactors.
IntActiQ16586. 5 interactors.
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.
OMAiTEAQQTT.
OrthoDBiEOG091G07H7.
PhylomeDBiQ16586.
TreeFamiTF314655.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
InterProiIPR028658. Alpha-SG.
IPR006644. Cadg.
IPR015919. Cadherin-like.
IPR013783. Ig-like_fold.
IPR008908. Sarcoglycan_alpha/epsilon.
[Graphical view]
PANTHERiPTHR10132. PTHR10132. 1 hit.
PTHR10132:SF16. PTHR10132:SF16. 1 hit.
PfamiPF05510. Sarcoglycan_2. 1 hit.
[Graphical view]
SMARTiSM00736. CADG. 1 hit.
[Graphical view]
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

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01040230P → L in LGMD2D. 1 Publication1
Natural variantiVAR_01040331L → P in LGMD2D. 1
Natural variantiVAR_01040434R → C in LGMD2D. 1 PublicationCorresponds to variant rs758647756dbSNPEnsembl.1
Natural variantiVAR_01040534R → H in LGMD2D. 1 PublicationCorresponds to variant rs371675217dbSNPEnsembl.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 rs757888349dbSNPEnsembl.1
Natural variantiVAR_01038777R → C in LGMD2D. 5 PublicationsCorresponds to variant rs28933693dbSNPEnsembl.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 rs138945081dbSNPEnsembl.1
Natural variantiVAR_01038898R → H in LGMD2D. 2 PublicationsCorresponds to variant rs137852621dbSNPEnsembl.1
Natural variantiVAR_010414103I → T in LGMD2D. 1
Natural variantiVAR_010415124I → T in LGMD2D. 2 PublicationsCorresponds to variant rs768814872dbSNPEnsembl.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 rs28933694dbSNPEnsembl.1
Natural variantiVAR_010416137E → K in LGMD2D. 1 PublicationCorresponds to variant rs372210292dbSNPEnsembl.1
Natural variantiVAR_010417158L → F in LGMD2D. 1 Publication1
Natural variantiVAR_010431173L → P in LGMD2D. 2 PublicationsCorresponds to variant rs143962150dbSNPEnsembl.1
Natural variantiVAR_010389175V → A in LGMD2D. 1 PublicationCorresponds to variant rs137852622dbSNPEnsembl.1
Natural variantiVAR_010418196V → I in LGMD2D. 1 Publication1
Natural variantiVAR_010419205P → H in LGMD2D. 1 PublicationCorresponds to variant rs757481230dbSNPEnsembl.1
Natural variantiVAR_010432228P → Q in LGMD2D. 1
Natural variantiVAR_010420242V → A in LGMD2D. 1
Natural variantiVAR_010433247V → M in LGMD2D. Corresponds to variant rs143570936dbSNPEnsembl.1
Natural variantiVAR_010390284R → C in LGMD2D. 2 PublicationsCorresponds to variant rs137852623dbSNPEnsembl.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

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. 12 interactors.
IntActiQ16586. 5 interactors.
STRINGi9606.ENSP00000262018.

PTM databases

PhosphoSitePlusiQ16586.

Polymorphism and mutation databases

BioMutaiSGCA.

Proteomic databases

PaxDbiQ16586.
PeptideAtlasiQ16586.
PRIDEiQ16586.

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.
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.
OMAiTEAQQTT.
OrthoDBiEOG091G07H7.
PhylomeDBiQ16586.
TreeFamiTF314655.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000108823-MONOMER.

Miscellaneous databases

ChiTaRSiSGCA. human.
GeneWikiiSGCA.
GenomeRNAii6442.
PROiQ16586.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000108823.
CleanExiHS_SGCA.
ExpressionAtlasiQ16586. baseline and differential.
GenevisibleiQ16586. HS.

Family and domain databases

Gene3Di2.60.40.10. 1 hit.
InterProiIPR028658. Alpha-SG.
IPR006644. Cadg.
IPR015919. Cadherin-like.
IPR013783. Ig-like_fold.
IPR008908. Sarcoglycan_alpha/epsilon.
[Graphical view]
PANTHERiPTHR10132. PTHR10132. 1 hit.
PTHR10132:SF16. PTHR10132:SF16. 1 hit.
PfamiPF05510. Sarcoglycan_2. 1 hit.
[Graphical view]
SMARTiSM00736. CADG. 1 hit.
[Graphical view]
SUPFAMiSSF49313. SSF49313. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiSGCA_HUMAN
AccessioniPrimary (citable) accession number: Q16586
Secondary accession number(s): A6NEB8
, A8K3K7, Q13710, Q13712
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: November 1, 1996
Last modified: November 30, 2016
This is version 158 of the entry and version 1 of the sequence. [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. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.