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SS18 SS18 subunit of BAF chromatin remodeling complex [ Homo sapiens (human) ]

Gene ID: 6760, updated on 21-Apr-2019

Summary

Official Symbol
SS18provided by HGNC
Official Full Name
SS18 subunit of BAF chromatin remodeling complexprovided by HGNC
Primary source
HGNC:HGNC:11340
See related
Ensembl:ENSG00000141380 MIM:600192
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SYT; SSXT
Expression
Ubiquitous expression in thyroid (RPKM 26.0), adrenal (RPKM 22.3) and 25 other tissues See more
Orthologs

Genomic context

See SS18 in Genome Data Viewer
Location:
18q11.2
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 18 NC_000018.10 (26016253..26091217, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (23596217..23671176, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 97, pseudogene Neighboring gene VISTA enhancer hs1566 Neighboring gene ribosomal protein S24 pseudogene 18 Neighboring gene proteasome subunit alpha 8 Neighboring gene dihydrofolate reductase 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
Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment.
NHGRI GWA Catalog
Genome-wide association study of chronic periodontitis in a general German population.
NHGRI GWA Catalog
Genome-wide association study of selenium concentrations.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC116875

Gene Ontology Provided by GOA

Function Evidence Code Pubs
nuclear receptor transcription coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell morphogenesis IEA
Inferred from Electronic Annotation
more info
 
ephrin receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
microtubule cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
neuronal stem cell population maintenance IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
response to drug IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
SWI/SNF complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic microtubule IEA
Inferred from Electronic Annotation
more info
 
npBAF complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein SSXT
Names
SS18, nBAF chromatin remodeling complex subunit
synovial sarcoma translocated to X chromosome protein
synovial sarcoma translocation, chromosome 18
synovial sarcoma, translocated to X chromosome

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.

mRNA and Protein(s)

  1. NM_001007559.3NP_001007560.1  protein SSXT isoform 1

    See identical proteins and their annotated locations for NP_001007560.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC091021, AF343880, AU279615, AW081610, X79201
    Consensus CDS
    CCDS32807.1
    UniProtKB/Swiss-Prot
    Q15532
    UniProtKB/TrEMBL
    A0A024RC40
    Related
    ENSP00000414516.2, ENST00000415083.7
    Conserved Domains (1) summary
    pfam05030
    Location:1473
    SSXT; SSXT protein (N-terminal region)
  2. NM_001308201.1NP_001295130.1  protein SSXT isoform 3

    See identical proteins and their annotated locations for NP_001295130.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (3) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC091021, AK296949, AW081610, DC378335, X79201
    Consensus CDS
    CCDS77168.1
    UniProtKB/Swiss-Prot
    Q15532
    UniProtKB/TrEMBL
    B4DLD3
    Related
    ENSP00000438066.2, ENST00000542420.6
    Conserved Domains (1) summary
    pfam05030
    Location:150
    SSXT; SSXT protein (N-terminal region)
  3. NM_005637.3NP_005628.2  protein SSXT isoform 2

    See identical proteins and their annotated locations for NP_005628.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC091021, AU279615, AW081610, X79201
    Consensus CDS
    CCDS54183.1
    UniProtKB/Swiss-Prot
    Q15532
    UniProtKB/TrEMBL
    Q4VAX0
    Related
    ENSP00000269137.7, ENST00000269137.11
    Conserved Domains (1) summary
    pfam05030
    Location:1473
    SSXT; SSXT protein (N-terminal region)

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.p12 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p12 Primary Assembly

    Range
    26016253..26091217 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011526145.1XP_011524447.1  protein SSXT isoform X1

    See identical proteins and their annotated locations for XP_011524447.1

    UniProtKB/TrEMBL
    B4DLD3
    Conserved Domains (1) summary
    pfam05030
    Location:150
    SSXT; SSXT protein (N-terminal region)
  2. XM_011526151.2XP_011524453.1  protein SSXT isoform X2

    See identical proteins and their annotated locations for XP_011524453.1

    Conserved Domains (1) summary
    pfam05030
    Location:121
    SSXT; SSXT protein (N-terminal region)
  3. XM_011526149.2XP_011524451.1  protein SSXT isoform X2

    See identical proteins and their annotated locations for XP_011524451.1

    Conserved Domains (1) summary
    pfam05030
    Location:121
    SSXT; SSXT protein (N-terminal region)
  4. XM_011526148.2XP_011524450.1  protein SSXT isoform X2

    See identical proteins and their annotated locations for XP_011524450.1

    Conserved Domains (1) summary
    pfam05030
    Location:121
    SSXT; SSXT protein (N-terminal region)
  5. XM_006722527.2XP_006722590.1  protein SSXT isoform X3

    See identical proteins and their annotated locations for XP_006722590.1

    UniProtKB/TrEMBL
    B4DR34
    Conserved Domains (1) summary
    pfam11593
    Location:6135
    Med3; Mediator complex subunit 3 fungal
  6. XM_011526147.2XP_011524449.1  protein SSXT isoform X2

    See identical proteins and their annotated locations for XP_011524449.1

    Conserved Domains (1) summary
    pfam05030
    Location:121
    SSXT; SSXT protein (N-terminal region)
  7. XM_011526152.2XP_011524454.1  protein SSXT isoform X4

    See identical proteins and their annotated locations for XP_011524454.1

    UniProtKB/TrEMBL
    B4E2J6
    Conserved Domains (1) summary
    pfam05030
    Location:121
    SSXT; SSXT protein (N-terminal region)
  8. XM_011526150.2XP_011524452.1  protein SSXT isoform X2

    See identical proteins and their annotated locations for XP_011524452.1

    Conserved Domains (1) summary
    pfam05030
    Location:121
    SSXT; SSXT protein (N-terminal region)
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