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Q16586 (SGCA_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 137. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Alpha-sarcoglycan

Short name=Alpha-SG
Alternative name(s):
50 kDa dystrophin-associated glycoprotein
Short name=50DAG
Adhalin
Dystroglycan-2
Gene names
Name:SGCA
Synonyms:ADL, DAG2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length387 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

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.

Subunit structure

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.

Subcellular location

Cell membranesarcolemma; Single-pass type I membrane protein By similarity. Cytoplasmcytoskeleton By similarity.

Tissue specificity

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.

Involvement in disease

Limb-girdle muscular dystrophy 2D (LGMD2D) [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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.7 Ref.8 Ref.9 Ref.11 Ref.12 Ref.13

Sequence similarities

Belongs to the sarcoglycan alpha/epsilon family.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform SGCA-1 (identifier: Q16586-1)

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.
Isoform SGCA-2 (identifier: Q16586-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2323 Potential
Chain24 – 387364Alpha-sarcoglycan
PRO_0000031673

Regions

Topological domain24 – 290267Extracellular Potential
Transmembrane291 – 31121Helical; Potential
Topological domain312 – 38776Cytoplasmic Potential

Amino acid modifications

Glycosylation1741N-linked (GlcNAc...) Potential
Glycosylation2461N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence196 – 319124Missing in isoform SGCA-2.
VSP_006017
Natural variant301P → L in LGMD2D. Ref.11
VAR_010402
Natural variant311L → P in LGMD2D.
VAR_010403
Natural variant341R → C in LGMD2D. Ref.11
VAR_010404
Natural variant341R → H in LGMD2D. Ref.9
VAR_010405
Natural variant621Y → H in LGMD2D. Ref.9
VAR_010406
Natural variant681G → E in LGMD2D. Ref.9
VAR_010407
Natural variant741R → W in LGMD2D.
VAR_010408
Natural variant771R → C in LGMD2D. Ref.7 Ref.8 Ref.9 Ref.11 Ref.12
Corresponds to variant rs28933693 [ dbSNP | Ensembl ].
VAR_010387
Natural variant891L → P in LGMD2D.
VAR_010409
Natural variant911G → R in LGMD2D. Ref.11
VAR_010410
Natural variant931A → V in LGMD2D. Ref.12
VAR_010411
Natural variant971D → G in LGMD2D. Ref.12
VAR_010412
Natural variant981R → C in LGMD2D.
VAR_010413
Natural variant981R → H in LGMD2D. Ref.1 Ref.9
VAR_010388
Natural variant1031I → T in LGMD2D.
VAR_010414
Natural variant1241I → T in LGMD2D. Ref.11 Ref.12
VAR_010415
Natural variant1361A → APGAQP in LGMD2D; associated with G-137.
VAR_037965
Natural variant1371E → G in LGMD2D; associated with P-G-A-Q-P-136 ins. Ref.8
Corresponds to variant rs28933694 [ dbSNP | Ensembl ].
VAR_037966
Natural variant1371E → K in LGMD2D. Ref.11
VAR_010416
Natural variant1581L → F in LGMD2D. Ref.12
VAR_010417
Natural variant1731L → P in LGMD2D. Ref.11 Ref.12
VAR_010431
Natural variant1751V → A in LGMD2D. Ref.1
VAR_010389
Natural variant1961V → I in LGMD2D. Ref.12
VAR_010418
Natural variant2051P → H in LGMD2D. Ref.12
VAR_010419
Natural variant2281P → Q in LGMD2D.
VAR_010432
Natural variant2421V → A in LGMD2D.
VAR_010420
Natural variant2471V → M in LGMD2D.
VAR_010433
Natural variant2841R → C in LGMD2D. Ref.11 Ref.13
Corresponds to variant rs137852623 [ dbSNP | Ensembl ].
VAR_010390

Sequences

Sequence LengthMass (Da)Tools
Isoform SGCA-1 [UniParc].

Last modified November 1, 1996. Version 1.
Checksum: 9CD0270A00BE03E6

FASTA38742,875
        10         20         30         40         50         60 
MAETLFWTPL LVVLLAGLGD TEAQQTTLHP LVGRVFVHTL DHETFLSLPE HVAVPPAVHI 

        70         80         90        100        110        120 
TYHAHLQGHP DLPRWLRYTQ RSPHHPGFLY GSATPEDRGL QVIEVTAYNR DSFDTTRQRL 

       130        140        150        160        170        180 
VLEIGDPEGP LLPYQAEFLV RSHDAEEVLP STPASRFLSA LGGLWEPGEL QLLNVTSALD 

       190        200        210        220        230        240 
RGGRVPLPIE GRKEGVYIKV GSASPFSTCL KMVASPDSHA RCAQGQPPLL SCYDTLAPHF 

       250        260        270        280        290        300 
RVDWCNVTLV DKSVPEPADE VPTPGDGILE HDPFFCPPTE APDRDFLVDA LVTLLVPLLV 

       310        320        330        340        350        360 
ALLLTLLLAY VMCCRREGRL KRDLATSDIQ MVHHCTIHGN TEELRQMAAS REVPRPLSTL 

       370        380 
PMFNVHTGER LPPRVDSAQV PLILDQH 

« Hide

Isoform SGCA-2 [UniParc].

Checksum: A5437E496658776B
Show »

FASTA26329,354

References

« Hide 'large scale' references
[1]"Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy."
Roberds S.L., Leturcq F., Allamand V., Piccolo F., Jeanpierre M., Anderson R.D., Lim L.E., Lee J.C., Tome F.M.S., Romero N.B., Fardeau M., Beckmann J.S., Kaplan J.-C., Campbell K.P.
Cell 78:625-633(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS LGMD2D HIS-98 AND ALA-175.
Tissue: Skeletal muscle.
[2]"Human adhalin is alternatively spliced and the gene is on chromosome 17q21."
McNally E., Yoshida M., Mizuno Y., Ozawa E., Kunkel L.M.
Proc. Natl. Acad. Sci. U.S.A. 91:9690-9694(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING.
Tissue: Heart ventricle.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Heart.
[4]"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. expand/collapse author list , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Pancreas and Spleen.
[7]"A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy."
Bueno M.R.P., Moreira E.S., Vainzof M., Chamberlain J., Marie S.K., Pereira L., Akiyama J., Roberds S.L., Campbell K.P., Zatz M.
Hum. Mol. Genet. 4:1163-1167(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-214, VARIANT LGMD2D CYS-77.
[8]"Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency."
Kawai H., Akaike M., Endo T., Adachi K., Inui T., Mitsui T., Kashiwagi S., Fujiwara T., Okuno S., Shin S., Miyoshi K., Campbell K.P., Yamada H., Shimizu T., Matsumura K., Saito S.
J. Clin. Invest. 96:1202-1207(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS LGMD2D CYS-77; PRO-GLY-ALA-GLN-PRO-136 INS AND GLY-137.
[9]"Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity."
Piccolo F., Roberds S.L., Jeanpierre M., Leturcq F., Azibi K., Beldjord C., Carrie A., Recan D., Chaouch M., Reghis A., El Kerch F., Sefiani A., Voit T., Merlini L., Collin H., Eymard B., Beckmann J.S., Romero N.B. expand/collapse author list , Tome F.M.S., Fardeau M., Campbell K.P., Kaplan J.-C.
Nat. Genet. 10:243-245(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS LGMD2D HIS-34; HIS-62; GLU-68; CYS-77 AND HIS-98.
[10]Erratum
Piccolo F., Roberds S.L., Jeanpierre M., Leturcq F., Azibi K., Beldjord C., Carrie A., Recan D., Chaouch M., Reghis A., El Kerch F., Sefiani A., Voit T., Merlini L., Collin H., Eymard B., Beckmann J.S., Romero N.B. expand/collapse author list , Tome F.M.S., Fardeau M., Campbell K.P., Kaplan J.-C.
Nat. Genet. 11:104-104(1995)
[11]"Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)."
Carrie A., Piccolo F., Leturcq F., de Toma C., Azibi K., Beldjord C., Vallat J.-M., Merlini L., Voit T., Sewry C., Urtizberea J.A., Romero N.B., Tome F.M.S., Fardeau M., Sunada Y., Campbell K.P., Kaplan J.-C., Jeanpierre M.
J. Med. Genet. 34:470-475(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS LGMD2D LEU-30; CYS-34; CYS-77; ARG-91; THR-124; LYS-137; PRO-173 AND CYS-284.
[12]"Mutations in the sarcoglycan genes in patients with myopathy."
Duggan D.J., Gorospe J.R., Fanin M., Hoffman E.P., Angelini C.
N. Engl. J. Med. 336:618-624(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS LGMD2D CYS-77; VAL-93; GLY-97; THR-124; PHE-158; PRO-173; ILE-196 AND HIS-205.
[13]"Homozygous alpha-sarcoglycan mutation in two siblings: one asymptomatic and one steroid-responsive mild limb-girdle muscular dystrophy patient."
Angelini C., Fanin M., Menegazzo E., Freda M.P., Duggan D.J., Hoffman E.P.
Muscle Nerve 21:769-775(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LGMD2D CYS-284.
+Additional computationally mapped references.

Web resources

Leiden Muscular Dystrophy pages

SGCA mutations in LGMD2D

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS32679.1. [Q16586-1]
CCDS45729.1. [Q16586-2]
PIRA54746.
RefSeqNP_000014.1. NM_000023.2. [Q16586-1]
NP_001129169.1. NM_001135697.1. [Q16586-2]
UniGeneHs.463412.

3D structure databases

ProteinModelPortalQ16586.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112340. 3 interactions.
IntActQ16586. 5 interactions.
STRING9606.ENSP00000262018.

PTM databases

PhosphoSiteQ16586.

Proteomic databases

PaxDbQ16586.
PRIDEQ16586.

Protocols and materials databases

DNASU6442.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000262018; ENSP00000262018; ENSG00000108823. [Q16586-1]
ENST00000344627; ENSP00000345522; ENSG00000108823. [Q16586-2]
GeneID6442.
KEGGhsa:6442.
UCSCuc002iqi.3. human. [Q16586-1]
uc002iqj.3. human. [Q16586-2]

Organism-specific databases

CTD6442.
GeneCardsGC17P048243.
GeneReviewsSGCA.
HGNCHGNC:10805. SGCA.
HPAHPA007537.
MIM600119. gene.
608099. phenotype.
neXtProtNX_Q16586.
Orphanet62. Autosomal recessive limb-girdle muscular dystrophy type 2D.
PharmGKBPA35716.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG323743.
HOGENOMHOG000074154.
HOVERGENHBG006891.
InParanoidQ16586.
KOK12565.
OMAHTLDHET.
PhylomeDBQ16586.
TreeFamTF314655.

Gene expression databases

ArrayExpressQ16586.
BgeeQ16586.
CleanExHS_SGCA.
GenevestigatorQ16586.

Family and domain databases

Gene3D2.60.40.10. 1 hit.
InterProIPR028658. Alpha-SG.
IPR006644. Cadg.
IPR015919. Cadherin-like.
IPR013783. Ig-like_fold.
IPR008908. Sarcoglycan_2.
[Graphical view]
PANTHERPTHR10132. PTHR10132. 1 hit.
PTHR10132:SF1. PTHR10132:SF1. 1 hit.
PfamPF05510. Sarcoglycan_2. 1 hit.
[Graphical view]
SMARTSM00736. CADG. 1 hit.
[Graphical view]
SUPFAMSSF49313. SSF49313. 1 hit.
ProtoNetSearch...

Other

GeneWikiSGCA.
GenomeRNAi6442.
NextBio25035.
PROQ16586.
SOURCESearch...

Entry information

Entry nameSGCA_HUMAN
AccessionPrimary (citable) accession number: Q16586
Secondary accession number(s): A6NEB8 expand/collapse secondary AC list , A8K3K7, Q13710, Q13712
Entry history
Integrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: November 1, 1996
Last modified: July 9, 2014
This is version 137 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM