Skip Header

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

Q16586

- SGCA_HUMAN

UniProt

Q16586 - SGCA_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Alpha-sarcoglycan

Gene

SGCA

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. calcium ion binding Source: InterPro

GO - Biological processi

  1. muscle contraction Source: ProtInc
  2. muscle organ development Source: ProtInc
Complete GO annotation...

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
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:10805. SGCA.

Subcellular locationi

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini24 – 290267ExtracellularSequence AnalysisAdd
BLAST
Transmembranei291 – 31121HelicalSequence AnalysisAdd
BLAST
Topological domaini312 – 38776CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. cell-cell junction Source: Ensembl
  2. cytoplasm Source: UniProtKB-KW
  3. cytoskeleton Source: UniProtKB-KW
  4. dystrophin-associated glycoprotein complex Source: ProtInc
  5. integral component of membrane Source: UniProtKB-KW
  6. membrane raft Source: Ensembl
  7. sarcoglycan complex Source: InterPro
  8. sarcolemma Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoskeleton, Membrane

Pathology & Biotechi

Involvement in diseasei

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.7 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti30 – 301P → L in LGMD2D. 1 Publication
VAR_010402
Natural varianti31 – 311L → P in LGMD2D.
VAR_010403
Natural varianti34 – 341R → C in LGMD2D. 1 Publication
VAR_010404
Natural varianti34 – 341R → H in LGMD2D. 1 Publication
VAR_010405
Natural varianti62 – 621Y → H in LGMD2D. 1 Publication
VAR_010406
Natural varianti68 – 681G → E in LGMD2D. 1 Publication
VAR_010407
Natural varianti74 – 741R → W in LGMD2D.
VAR_010408
Natural varianti77 – 771R → C in LGMD2D. 5 Publications
Corresponds to variant rs28933693 [ dbSNP | Ensembl ].
VAR_010387
Natural varianti89 – 891L → P in LGMD2D.
VAR_010409
Natural varianti91 – 911G → R in LGMD2D. 1 Publication
VAR_010410
Natural varianti93 – 931A → V in LGMD2D. 1 Publication
VAR_010411
Natural varianti97 – 971D → G in LGMD2D. 1 Publication
VAR_010412
Natural varianti98 – 981R → C in LGMD2D.
VAR_010413
Natural varianti98 – 981R → H in LGMD2D. 2 Publications
VAR_010388
Natural varianti103 – 1031I → T in LGMD2D.
VAR_010414
Natural varianti124 – 1241I → T in LGMD2D. 2 Publications
VAR_010415
Natural varianti136 – 1361A → APGAQP in LGMD2D; associated with G-137.
VAR_037965
Natural varianti137 – 1371E → G in LGMD2D; associated with P-G-A-Q-P-136 ins. 1 Publication
Corresponds to variant rs28933694 [ dbSNP | Ensembl ].
VAR_037966
Natural varianti137 – 1371E → K in LGMD2D. 1 Publication
VAR_010416
Natural varianti158 – 1581L → F in LGMD2D. 1 Publication
VAR_010417
Natural varianti173 – 1731L → P in LGMD2D. 2 Publications
VAR_010431
Natural varianti175 – 1751V → A in LGMD2D. 1 Publication
VAR_010389
Natural varianti196 – 1961V → I in LGMD2D. 1 Publication
VAR_010418
Natural varianti205 – 2051P → H in LGMD2D. 1 Publication
VAR_010419
Natural varianti228 – 2281P → Q in LGMD2D.
VAR_010432
Natural varianti242 – 2421V → A in LGMD2D.
VAR_010420
Natural varianti247 – 2471V → M in LGMD2D.
VAR_010433
Natural varianti284 – 2841R → C in LGMD2D. 2 Publications
Corresponds to variant rs137852623 [ dbSNP | Ensembl ].
VAR_010390

Keywords - Diseasei

Disease mutation, Limb-girdle muscular dystrophy

Organism-specific databases

MIMi608099. phenotype.
Orphaneti62. Autosomal recessive limb-girdle muscular dystrophy type 2D.
PharmGKBiPA35716.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2323Sequence AnalysisAdd
BLAST
Chaini24 – 387364Alpha-sarcoglycanPRO_0000031673Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi174 – 1741N-linked (GlcNAc...)Sequence Analysis
Glycosylationi246 – 2461N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ16586.
PRIDEiQ16586.

PTM databases

PhosphoSiteiQ16586.

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

BgeeiQ16586.
CleanExiHS_SGCA.
ExpressionAtlasiQ16586. baseline and differential.
GenevestigatoriQ16586.

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

Protein-protein interaction databases

BioGridi112340. 12 interactions.
IntActiQ16586. 5 interactions.
STRINGi9606.ENSP00000262018.

Structurei

3D structure databases

ProteinModelPortaliQ16586.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the sarcoglycan alpha/epsilon family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG323743.
GeneTreeiENSGT00390000005672.
HOGENOMiHOG000074154.
HOVERGENiHBG006891.
InParanoidiQ16586.
KOiK12565.
OMAiHTLDHET.
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_2.
[Graphical view]
PANTHERiPTHR10132. PTHR10132. 1 hit.
PTHR10132:SF1. PTHR10132:SF1. 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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti30 – 301P → L in LGMD2D. 1 Publication
VAR_010402
Natural varianti31 – 311L → P in LGMD2D.
VAR_010403
Natural varianti34 – 341R → C in LGMD2D. 1 Publication
VAR_010404
Natural varianti34 – 341R → H in LGMD2D. 1 Publication
VAR_010405
Natural varianti62 – 621Y → H in LGMD2D. 1 Publication
VAR_010406
Natural varianti68 – 681G → E in LGMD2D. 1 Publication
VAR_010407
Natural varianti74 – 741R → W in LGMD2D.
VAR_010408
Natural varianti77 – 771R → C in LGMD2D. 5 Publications
Corresponds to variant rs28933693 [ dbSNP | Ensembl ].
VAR_010387
Natural varianti89 – 891L → P in LGMD2D.
VAR_010409
Natural varianti91 – 911G → R in LGMD2D. 1 Publication
VAR_010410
Natural varianti93 – 931A → V in LGMD2D. 1 Publication
VAR_010411
Natural varianti97 – 971D → G in LGMD2D. 1 Publication
VAR_010412
Natural varianti98 – 981R → C in LGMD2D.
VAR_010413
Natural varianti98 – 981R → H in LGMD2D. 2 Publications
VAR_010388
Natural varianti103 – 1031I → T in LGMD2D.
VAR_010414
Natural varianti124 – 1241I → T in LGMD2D. 2 Publications
VAR_010415
Natural varianti136 – 1361A → APGAQP in LGMD2D; associated with G-137.
VAR_037965
Natural varianti137 – 1371E → G in LGMD2D; associated with P-G-A-Q-P-136 ins. 1 Publication
Corresponds to variant rs28933694 [ dbSNP | Ensembl ].
VAR_037966
Natural varianti137 – 1371E → K in LGMD2D. 1 Publication
VAR_010416
Natural varianti158 – 1581L → F in LGMD2D. 1 Publication
VAR_010417
Natural varianti173 – 1731L → P in LGMD2D. 2 Publications
VAR_010431
Natural varianti175 – 1751V → A in LGMD2D. 1 Publication
VAR_010389
Natural varianti196 – 1961V → I in LGMD2D. 1 Publication
VAR_010418
Natural varianti205 – 2051P → H in LGMD2D. 1 Publication
VAR_010419
Natural varianti228 – 2281P → Q in LGMD2D.
VAR_010432
Natural varianti242 – 2421V → A in LGMD2D.
VAR_010420
Natural varianti247 – 2471V → M in LGMD2D.
VAR_010433
Natural varianti284 – 2841R → C in LGMD2D. 2 Publications
Corresponds to variant rs137852623 [ dbSNP | Ensembl ].
VAR_010390

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei196 – 319124Missing in isoform SGCA-2. CuratedVSP_006017Add
BLAST

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_000023.2. [Q16586-1]
NP_001129169.1. NM_001135697.1. [Q16586-2]
UniGeneiHs.463412.

Genome annotation databases

EnsembliENST00000262018; ENSP00000262018; ENSG00000108823. [Q16586-1]
ENST00000344627; ENSP00000345522; ENSG00000108823. [Q16586-2]
GeneIDi6442.
KEGGihsa:6442.
UCSCiuc002iqi.3. human. [Q16586-1]
uc002iqj.3. human. [Q16586-2]

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 .
CCDSi CCDS32679.1. [Q16586-1 ]
CCDS45729.1. [Q16586-2 ]
PIRi A54746.
RefSeqi NP_000014.1. NM_000023.2. [Q16586-1 ]
NP_001129169.1. NM_001135697.1. [Q16586-2 ]
UniGenei Hs.463412.

3D structure databases

ProteinModelPortali Q16586.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 112340. 12 interactions.
IntActi Q16586. 5 interactions.
STRINGi 9606.ENSP00000262018.

PTM databases

PhosphoSitei Q16586.

Proteomic databases

PaxDbi Q16586.
PRIDEi Q16586.

Protocols and materials databases

DNASUi 6442.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000262018 ; ENSP00000262018 ; ENSG00000108823 . [Q16586-1 ]
ENST00000344627 ; ENSP00000345522 ; ENSG00000108823 . [Q16586-2 ]
GeneIDi 6442.
KEGGi hsa:6442.
UCSCi uc002iqi.3. human. [Q16586-1 ]
uc002iqj.3. human. [Q16586-2 ]

Organism-specific databases

CTDi 6442.
GeneCardsi GC17P048243.
GeneReviewsi SGCA.
HGNCi HGNC:10805. SGCA.
HPAi HPA007537.
MIMi 600119. gene.
608099. phenotype.
neXtProti NX_Q16586.
Orphaneti 62. Autosomal recessive limb-girdle muscular dystrophy type 2D.
PharmGKBi PA35716.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG323743.
GeneTreei ENSGT00390000005672.
HOGENOMi HOG000074154.
HOVERGENi HBG006891.
InParanoidi Q16586.
KOi K12565.
OMAi HTLDHET.
PhylomeDBi Q16586.
TreeFami TF314655.

Miscellaneous databases

ChiTaRSi SGCA. human.
GeneWikii SGCA.
GenomeRNAii 6442.
NextBioi 25035.
PROi Q16586.
SOURCEi Search...

Gene expression databases

Bgeei Q16586.
CleanExi HS_SGCA.
ExpressionAtlasi Q16586. baseline and differential.
Genevestigatori Q16586.

Family and domain databases

Gene3Di 2.60.40.10. 1 hit.
InterProi IPR028658. Alpha-SG.
IPR006644. Cadg.
IPR015919. Cadherin-like.
IPR013783. Ig-like_fold.
IPR008908. Sarcoglycan_2.
[Graphical view ]
PANTHERi PTHR10132. PTHR10132. 1 hit.
PTHR10132:SF1. PTHR10132:SF1. 1 hit.
Pfami PF05510. Sarcoglycan_2. 1 hit.
[Graphical view ]
SMARTi SM00736. CADG. 1 hit.
[Graphical view ]
SUPFAMi SSF49313. SSF49313. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. 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.
    , 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.
    , 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. 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. Cited for: VARIANTS LGMD2D HIS-34; HIS-62; GLU-68; CYS-77 AND HIS-98.
  10. Cited for: VARIANTS LGMD2D LEU-30; CYS-34; CYS-77; ARG-91; THR-124; LYS-137; PRO-173 AND CYS-284.
  11. "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.
  12. "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.

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 26, 2014
This is version 140 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

External Data

Dasty 3