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STAG3 stromal antigen 3 [ Homo sapiens (human) ]

Gene ID: 10734, updated on 17-Jun-2019

Summary

Official Symbol
STAG3provided by HGNC
Official Full Name
stromal antigen 3provided by HGNC
Primary source
HGNC:HGNC:11356
See related
Ensembl:ENSG00000066923 MIM:608489
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
Summary
The protein encoded by this gene is expressed in the nucleus and is a subunit of the cohesin complex which regulates the cohesion of sister chromatids during cell division. A mutation in this gene is associated with premature ovarian failure. Alternate splicing results in multiple transcript variants encoding distinct isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Apr 2014]
Expression
Biased expression in testis (RPKM 44.6), brain (RPKM 6.1) and 2 other tissues See more
Orthologs

Genomic context

See STAG3 in Genome Data Viewer
Location:
7q22.1
Exon count:
37
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (100177563..100219334)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (99775186..99812010)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene galactose-3-O-sulfotransferase 4 Neighboring gene glypican 2 Neighboring gene 60S ribosomal protein L29-like Neighboring gene CASTOR family member 3 Neighboring gene uncharacterized LOC107986828 Neighboring gene PVR related immunoglobulin domain containing Neighboring gene uncharacterized LOC105375427

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

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Meiosis, organism-specific biosystem (from REACTOME)
    Meiosis, organism-specific biosystemDuring meiosis the replicated chromosomes of a single diploid cell are segregated into 4 haploid daughter cells by two successive divisions, meiosis I and meiosis II. In meiosis I, the distinguishing...
  • Meiotic synapsis, organism-specific biosystem (from REACTOME)
    Meiotic synapsis, organism-specific biosystemMeiotic synapsis is the stable physical pairing of homologous chromosomes that begins in leptonema of prophase I and lasts until anaphase of prophase I. First, short segments of axial elements form a...
  • Oocyte meiosis, organism-specific biosystem (from KEGG)
    Oocyte meiosis, organism-specific biosystemDuring meiosis, a single round of DNA replication is followed by two rounds of chromosome segregation, called meiosis I and meiosis II. At meiosis I, homologous chromosomes recombine and then segrega...
  • Oocyte meiosis, conserved biosystem (from KEGG)
    Oocyte meiosis, conserved biosystemDuring meiosis, a single round of DNA replication is followed by two rounds of chromosome segregation, called meiosis I and meiosis II. At meiosis I, homologous chromosomes recombine and then segrega...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
chromatin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
sister chromatid cohesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptonemal complex assembly TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
chromatin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chromosome, centromeric region IEA
Inferred from Electronic Annotation
more info
 
cohesin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space HDA PubMed 
meiotic cohesin complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptonemal complex TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
cohesin subunit SA-3
Names
SCC3 homolog 3
stromalin-3

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_034114.1 RefSeqGene

    Range
    5001..41664
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001282716.1NP_001269645.1  cohesin subunit SA-3 isoform 1

    See identical proteins and their annotated locations for NP_001269645.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AA747738, AJ007798, BC146806
    Consensus CDS
    CCDS34703.1
    UniProtKB/Swiss-Prot
    Q9UJ98
    Related
    ENSP00000400359.1, ENST00000426455.5
    Conserved Domains (1) summary
    pfam08514
    Location:173281
    STAG; STAG domain
  2. NM_001282717.1NP_001269646.1  cohesin subunit SA-3 isoform 2

    See identical proteins and their annotated locations for NP_001269646.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame acceptor splice site in the 3' coding region compared to variant 1. The resulting isoform (2) is 1 aa longer than isoform 1.
    Source sequence(s)
    AA747738, AJ007798, BC047490, BC146806, DB097403
    Consensus CDS
    CCDS75642.1
    UniProtKB/Swiss-Prot
    Q9UJ98
    UniProtKB/TrEMBL
    D6W5U7
    Related
    ENSP00000477973.1, ENST00000615138.4
    Conserved Domains (1) summary
    pfam08514
    Location:173281
    STAG; STAG domain
  3. NM_001282718.2NP_001269647.1  cohesin subunit SA-3 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and lacks 2 consecutive in-frame exons in the 5' coding region compared to variant 1. The resulting shorter isoform (3) lacks an in internal protein segment compared to isoform 1.
    Source sequence(s)
    AA747738, AJ007798, AK302693, BC146806, DB097403
    Consensus CDS
    CCDS64730.1
    UniProtKB/Swiss-Prot
    Q9UJ98
    Related
    ENSP00000377586.2, ENST00000394018.6
    Conserved Domains (1) summary
    pfam08514
    Location:115223
    STAG; STAG domain
  4. NM_012447.4NP_036579.2  cohesin subunit SA-3 isoform 1

    See identical proteins and their annotated locations for NP_036579.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and encodes isoform 1. Variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AA747738, AJ007798, BC146806
    Consensus CDS
    CCDS34703.1
    UniProtKB/Swiss-Prot
    Q9UJ98
    Related
    ENSP00000319318.5, ENST00000317296.9
    Conserved Domains (1) summary
    pfam08514
    Location:173281
    STAG; STAG domain

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_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    100177563..100219334
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011685.1XP_016867174.1  cohesin subunit SA-3 isoform X1

  2. XM_017011684.1XP_016867173.1  cohesin subunit SA-3 isoform X1

  3. XM_011515742.1XP_011514044.1  cohesin subunit SA-3 isoform X3

    See identical proteins and their annotated locations for XP_011514044.1

    UniProtKB/TrEMBL
    D6W5U7
    Conserved Domains (1) summary
    pfam08514
    Location:173281
    STAG; STAG domain
  4. XM_017011687.1XP_016867176.1  cohesin subunit SA-3 isoform X4

  5. XM_017011683.2XP_016867172.1  cohesin subunit SA-3 isoform X1

  6. XM_017011686.2XP_016867175.1  cohesin subunit SA-3 isoform X2

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