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Q16586

- SGCA_HUMAN

UniProt

Q16586 - SGCA_HUMAN

Protein

Alpha-sarcoglycan

Gene

SGCA

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 138 (01 Oct 2014)
      Sequence version 1 (01 Nov 1996)
      Previous versions | rss
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    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

    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

    GO - Cellular componenti

    1. cell-cell junction Source: Ensembl
    2. cytoplasm Source: UniProtKB-KW
    3. cytoskeleton Source: UniProtKB-SubCell
    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: UniProtKB-SubCell

    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

    ArrayExpressiQ16586.
    BgeeiQ16586.
    CleanExiHS_SGCA.
    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. 3 interactions.
    IntActiQ16586. 5 interactions.
    STRINGi9606.ENSP00000262018.

    Structurei

    3D structure databases

    ProteinModelPortaliQ16586.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

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

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei291 – 31121HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the sarcoglycan alpha/epsilon family.Curated

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG323743.
    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

    MAETLFWTPL LVVLLAGLGD TEAQQTTLHP LVGRVFVHTL DHETFLSLPE    50
    HVAVPPAVHI TYHAHLQGHP DLPRWLRYTQ RSPHHPGFLY GSATPEDRGL 100
    QVIEVTAYNR DSFDTTRQRL VLEIGDPEGP LLPYQAEFLV RSHDAEEVLP 150
    STPASRFLSA LGGLWEPGEL QLLNVTSALD RGGRVPLPIE GRKEGVYIKV 200
    GSASPFSTCL KMVASPDSHA RCAQGQPPLL SCYDTLAPHF RVDWCNVTLV 250
    DKSVPEPADE VPTPGDGILE HDPFFCPPTE APDRDFLVDA LVTLLVPLLV 300
    ALLLTLLLAY VMCCRREGRL KRDLATSDIQ MVHHCTIHGN TEELRQMAAS 350
    REVPRPLSTL PMFNVHTGER LPPRVDSAQV PLILDQH 387
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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. 3 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.
    HOGENOMi HOG000074154.
    HOVERGENi HBG006891.
    InParanoidi Q16586.
    KOi K12565.
    OMAi HTLDHET.
    PhylomeDBi Q16586.
    TreeFami TF314655.

    Miscellaneous databases

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

    Gene expression databases

    ArrayExpressi Q16586.
    Bgeei Q16586.
    CleanExi HS_SGCA.
    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

    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: October 1, 2014
    This is version 138 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