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    SGCZ sarcoglycan zeta [ Homo sapiens (human) ]

    Gene ID: 137868, updated on 17-Jun-2019

    Summary

    Official Symbol
    SGCZprovided by HGNC
    Official Full Name
    sarcoglycan zetaprovided by HGNC
    Primary source
    HGNC:HGNC:14075
    See related
    Ensembl:ENSG00000185053 MIM:608113
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ZSG1
    Summary
    The zeta-sarcoglycan gene measures over 465 kb and localizes to 8p22. This protein is part of the sarcoglycan complex, a group of 6 proteins. The sarcoglycans are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a carboxyl-terminal cluster with several conserved cysteine residues. The sarcoglycan complex is part of the dystrophin-associated glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extra-cellular matrix. [provided by RefSeq, Jul 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs

    Genomic context

    See SGCZ in Genome Data Viewer
    Location:
    8p22
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (14084845..15238431, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (13947373..15095792, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene small nuclear ribonucleoprotein polypeptide B2 pseudogene Neighboring gene structural maintenance of chromosomes 5 pseudogene Neighboring gene RNA, U7 small nuclear 153 pseudogene Neighboring gene eukaryotic translation initiation factor 4E pseudogene 5 Neighboring gene RNA, U6 small nuclear 397, pseudogene Neighboring gene microRNA 383 Neighboring gene clathrin light chain A pseudogene Neighboring gene tumor suppressor candidate 3 Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1A pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Evidence for shared genetic risk between methamphetamine-induced psychosis and schizophrenia.
    NHGRI GWA Catalog
    Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.
    NHGRI GWA Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC149397

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    cardiac muscle tissue development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    heart contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    membrane organization TAS
    Traceable Author Statement
    more info
    PubMed 
    muscle cell cellular homeostasis TAS
    Traceable Author Statement
    more info
    PubMed 
    muscle cell development TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    sarcoglycan complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    sarcoglycan complex TAS
    Traceable Author Statement
    more info
    PubMed 
    sarcolemma IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    zeta-sarcoglycan
    Names
    zeta-SG

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008899.1 RefSeqGene

      Range
      5001..1153420
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_208

    mRNA and Protein(s)

    1. NM_001322879.2NP_001309808.1  zeta-sarcoglycan isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC020992, AC023538, AI580904, AY028700, AY502063, BC125037
      UniProtKB/Swiss-Prot
      Q96LD1
      UniProtKB/TrEMBL
      Q08AT0
      Related
      ENSP00000405224.2, ENST00000421524.6
      Conserved Domains (1) summary
      pfam04790
      Location:38263
      Sarcoglycan_1; Sarcoglycan complex subunit protein
    2. NM_001322880.2NP_001309809.1  zeta-sarcoglycan isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC020992, AC023538, AI580904, AY028700, AY502063
      UniProtKB/Swiss-Prot
      Q96LD1
      Conserved Domains (1) summary
      pfam04790
      Location:38256
      Sarcoglycan_1; Sarcoglycan complex subunit protein
    3. NM_001322881.2NP_001309810.1  zeta-sarcoglycan isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC020992, AC023538, AI580904, AY028700, AY502063
      UniProtKB/Swiss-Prot
      Q96LD1
      Conserved Domains (1) summary
      pfam04790
      Location:5182
      Sarcoglycan_1; Sarcoglycan complex subunit protein
    4. NM_139167.4NP_631906.2  zeta-sarcoglycan isoform 1

      See identical proteins and their annotated locations for NP_631906.2

      Status: REVIEWED

      Source sequence(s)
      AC020992, AC023538, AI580904, AY028700, AY502063
      Consensus CDS
      CCDS5992.2
      UniProtKB/Swiss-Prot
      Q96LD1
      Related
      ENSP00000371512.1, ENST00000382080.6
      Conserved Domains (1) summary
      pfam04790
      Location:38297
      Sarcoglycan_1; Sarcoglycan complex subunit protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      14084845..15238431 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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