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SGCZ sarcoglycan zeta [ Homo sapiens (human) ]

Gene ID: 137868, updated on 1-Aug-2020

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
109.20200522 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 Functions

What'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 109.20200522

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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