SGCZ_HUMAN
ID SGCZ_HUMAN Reviewed; 299 AA.
AC Q96LD1; Q6REU0;
DT 16-JAN-2004, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 133.
DE RecName: Full=Zeta-sarcoglycan;
DE Short=Zeta-SG;
DE AltName: Full=ZSG1;
GN Name=SGCZ;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA Kutzick C., Herrmann R., Voit T.;
RT "Identification of a novel human sarcoglycan.";
RL Submitted (MAR-2001) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RC TISSUE=Skeletal muscle;
RA Kutzick C., Herrmann R., Voit T.;
RT "Human zeta-sarcoglycan, a novel member of the sarcoglycan family.";
RL Submitted (DEC-2003) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: Component of the sarcoglycan complex, a subcomplex of the
CC dystrophin-glycoprotein complex which forms a link between the F-actin
CC cytoskeleton and the extracellular matrix. May play a role in the
CC maintenance of striated muscle membrane stability (By similarity).
CC {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Cell membrane, sarcolemma {ECO:0000250}; Single-
CC pass type II membrane protein {ECO:0000250}. Cytoplasm, cytoskeleton
CC {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q96LD1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96LD1-2; Sequence=VSP_037410;
CC -!- SIMILARITY: Belongs to the sarcoglycan beta/delta/gamma/zeta family.
CC {ECO:0000305}.
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DR EMBL; AY028700; AAK21962.1; -; mRNA.
DR EMBL; AY502063; AAR89453.1; -; mRNA.
DR EMBL; BC069459; AAH69459.1; -; mRNA.
DR CCDS; CCDS5992.2; -. [Q96LD1-2]
DR RefSeq; NP_001309808.1; NM_001322879.1.
DR RefSeq; NP_001309809.1; NM_001322880.1.
DR RefSeq; NP_001309810.1; NM_001322881.1.
DR RefSeq; NP_631906.2; NM_139167.3. [Q96LD1-2]
DR AlphaFoldDB; Q96LD1; -.
DR BioGRID; 126488; 34.
DR STRING; 9606.ENSP00000371512; -.
DR GlyGen; Q96LD1; 2 sites.
DR iPTMnet; Q96LD1; -.
DR PhosphoSitePlus; Q96LD1; -.
DR BioMuta; SGCZ; -.
DR DMDM; 41018110; -.
DR jPOST; Q96LD1; -.
DR MassIVE; Q96LD1; -.
DR PaxDb; Q96LD1; -.
DR PeptideAtlas; Q96LD1; -.
DR PRIDE; Q96LD1; -.
DR ProteomicsDB; 77204; -. [Q96LD1-1]
DR ProteomicsDB; 77205; -. [Q96LD1-2]
DR Antibodypedia; 2695; 21 antibodies from 11 providers.
DR DNASU; 137868; -.
DR Ensembl; ENST00000382080.6; ENSP00000371512.1; ENSG00000185053.14. [Q96LD1-2]
DR GeneID; 137868; -.
DR KEGG; hsa:137868; -.
DR MANE-Select; ENST00000382080.6; ENSP00000371512.1; NM_139167.4; NP_631906.2. [Q96LD1-2]
DR UCSC; uc003wwq.4; human. [Q96LD1-1]
DR CTD; 137868; -.
DR DisGeNET; 137868; -.
DR GeneCards; SGCZ; -.
DR HGNC; HGNC:14075; SGCZ.
DR HPA; ENSG00000185053; Group enriched (brain, ovary).
DR MIM; 608113; gene.
DR neXtProt; NX_Q96LD1; -.
DR OpenTargets; ENSG00000185053; -.
DR PharmGKB; PA38378; -.
DR VEuPathDB; HostDB:ENSG00000185053; -.
DR eggNOG; KOG3950; Eukaryota.
DR GeneTree; ENSGT00940000157146; -.
DR HOGENOM; CLU_043450_0_0_1; -.
DR InParanoid; Q96LD1; -.
DR OMA; NHLPRTE; -.
DR OrthoDB; 1407024at2759; -.
DR PhylomeDB; Q96LD1; -.
DR TreeFam; TF313538; -.
DR PathwayCommons; Q96LD1; -.
DR SignaLink; Q96LD1; -.
DR BioGRID-ORCS; 137868; 11 hits in 1066 CRISPR screens.
DR ChiTaRS; SGCZ; human.
DR GeneWiki; SGCZ; -.
DR GenomeRNAi; 137868; -.
DR Pharos; Q96LD1; Tbio.
DR PRO; PR:Q96LD1; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q96LD1; protein.
DR Bgee; ENSG00000185053; Expressed in oocyte and 48 other tissues.
DR ExpressionAtlas; Q96LD1; baseline and differential.
DR Genevisible; Q96LD1; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR GO; GO:0005856; C:cytoskeleton; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0016012; C:sarcoglycan complex; IBA:GO_Central.
DR GO; GO:0042383; C:sarcolemma; IBA:GO_Central.
DR GO; GO:0048738; P:cardiac muscle tissue development; IBA:GO_Central.
DR GO; GO:0060047; P:heart contraction; IBA:GO_Central.
DR GO; GO:0061024; P:membrane organization; TAS:BHF-UCL.
DR GO; GO:0046716; P:muscle cell cellular homeostasis; TAS:BHF-UCL.
DR GO; GO:0055001; P:muscle cell development; TAS:BHF-UCL.
DR InterPro; IPR006875; Sarcoglycan.
DR InterPro; IPR039972; Sarcoglycan_gamma/delta/zeta.
DR InterPro; IPR027662; Sgcz.
DR PANTHER; PTHR12939; PTHR12939; 1.
DR PANTHER; PTHR12939:SF5; PTHR12939:SF5; 1.
DR Pfam; PF04790; Sarcoglycan_1; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell membrane; Cytoplasm; Cytoskeleton;
KW Disulfide bond; Glycoprotein; Membrane; Reference proteome; Signal-anchor;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..299
FT /note="Zeta-sarcoglycan"
FT /id="PRO_0000175251"
FT TOPO_DOM 1..37
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 38..58
FT /note="Helical; Signal-anchor for type II membrane protein"
FT /evidence="ECO:0000255"
FT TOPO_DOM 59..299
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT CARBOHYD 62
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 110
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 273..289
FT /evidence="ECO:0000255"
FT VAR_SEQ 1
FT /note="M -> MDRSTNLDIEELKM (in isoform 2)"
FT /evidence="ECO:0000303|Ref.2"
FT /id="VSP_037410"
SQ SEQUENCE 299 AA; 32949 MW; BB2C14302AD477C0 CRC64;
MTREQYILAT QQNNLPRTEN AQLYPVGIYG WRKRCLYFFV LLLLVTMIVN LAMTIWILKV
MNFTVDGMGN LRVTKKGIRL EGISEFLLPL YVKEIHSRKD SPLVLQSDRN VTVNARNHMG
QLTGQLTIGA DAVEAQCKRF EVRASEDGRV LFSADEDEIT IGAEKLKVTG TEGAVFGHSV
ETPHIRAEPS QDLRLESPTR SLIMEAPRGV QVSAAAGDFK ATCRKELHLQ STEGEIFLNA
ETIKLGNLPT GSFSSSSPSS SSSRQTVYEL CVCPNGKLYL SPAGVGSTCQ SSSNICLWS
