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SON SON DNA binding protein [ Homo sapiens (human) ]

Gene ID: 6651, updated on 26-May-2016
Official Symbol
SONprovided by HGNC
Official Full Name
SON DNA binding proteinprovided by HGNC
Primary source
HGNC:HGNC:11183
See related
Ensembl:ENSG00000159140 HPRD:01678; MIM:182465; Vega:OTTHUMG00000065806
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
SON3; BASS1; DBP-5; NREBP; C21orf50
Summary
This gene encodes a protein that contains multiple simple repeats. The encoded protein binds RNA and promotes pre-mRNA splicing, particularly of transcripts with poor splice sites. The protein also recognizes a specific DNA sequence found in the human hepatitis B virus (HBV) and represses HBV core promoter activity. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Orthologs
Location:
21q22.11
Exon count:
15
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 21 NC_000021.9 (33543038..33577514)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (34915344..34949820)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene DnaJ heat shock protein family (Hsp40) member C28 Neighboring gene phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase Neighboring gene basic transcription factor 3 pseudogene 6 Neighboring gene microRNA 6501 Neighboring gene downstream neighbor of SON Neighboring gene crystallin zeta like 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ21099, FLJ33914, KIAA1019

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RS domain binding IEA
Inferred from Electronic Annotation
more info
 
nucleic acid binding TAS
Traceable Author Statement
more info
PubMed 
poly(A) RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
RNA splicing IEA
Inferred from Electronic Annotation
more info
 
cytokinesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
mRNA processing IDA
Inferred from Direct Assay
more info
PubMed 
microtubule cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
regulation of RNA splicing IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
nuclear speck IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
Preferred Names
protein SON
Names
Bax antagonist selected in Saccharomyces 1
NRE-binding protein
negative regulatory element-binding protein

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_001291411.1NP_001278340.1  protein SON isoform E

    Status: REVIEWED

    Description
    Transcript Variant: This variant (e) lacks multiple 3' coding exons and contains an alternate 3' exon, resulting in a distinct 3' coding region and 3' UTR, compared to variant f. It encodes isoform E which is shorter and has a distinct C-terminus, compared to isoform F.
    Source sequence(s)
    AF380180, AK307612, AP000303, AW338543, BQ221207, CF887020, CF890770
    Consensus CDS
    CCDS74784.1
    UniProtKB/Swiss-Prot
    P18583
    Related
    ENSP00000371095, OTTHUMP00000195997, ENST00000381679, OTTHUMT00000140982
    Conserved Domains (1) summary
    pfam08430
    Location:10161129
    Fork_head_N; Forkhead N-terminal region
  2. NM_001291412.1NP_001278341.1  protein SON isoform H

    Status: REVIEWED

    Description
    Transcript Variant: This variant (h) lacks an internal in-frame exon, compared to variant f. The encoded isoform (H) is shorter than isoform F.
    Source sequence(s)
    AF380184, AK127947, AK307612, BC046101
    Consensus CDS
    CCDS77624.1
    UniProtKB/Swiss-Prot
    P18583
    UniProtKB/TrEMBL
    J3QSZ5, Q6ZRV7
    Related
    ENSP00000371111, OTTHUMP00000068515, ENST00000381692, OTTHUMT00000140977
    Conserved Domains (2) summary
    cd00048
    Location:399436
    DSRM; Double-stranded RNA binding motif. Binding is not sequence specific but is highly specific for double stranded RNA. Found in a variety of proteins including dsRNA dependent protein kinase PKR, RNA helicases, Drosophila staufen protein, E. coli RNase III, ...
    pfam01585
    Location:333376
    G-patch; G-patch domain
  3. NM_032195.2NP_115571.2  protein SON isoform B

    Status: REVIEWED

    Description
    Transcript Variant: This variant (b) lacks multiple 3' coding exons and contains an alternate 3' exon, resulting in a distinct 3' coding region and 3' UTR, compared to variant f. The encoded isoform (B) is shorter and has a distinct C-terminus, compared to isoform F.
    Source sequence(s)
    AF380180, AK307612, AP000303, BM998625
    Consensus CDS
    CCDS13631.1
    UniProtKB/Swiss-Prot
    P18583
    Related
    ENSP00000300278, OTTHUMP00000068517, ENST00000300278, OTTHUMT00000140979
    Conserved Domains (1) summary
    pfam08430
    Location:10161129
    Fork_head_N; Forkhead N-terminal region
  4. NM_138927.2NP_620305.2  protein SON isoform F

    Status: REVIEWED

    Description
    Transcript Variant: This variant (f) encodes the longest isoform (F).
    Source sequence(s)
    AF380184, AK307612, AP000303, BC046101
    Consensus CDS
    CCDS13629.1
    UniProtKB/Swiss-Prot
    P18583
    Related
    ENSP00000348984, OTTHUMP00000068516, ENST00000356577, OTTHUMT00000140978
    Conserved Domains (4) summary
    cd00048
    Location:23712408
    DSRM; Double-stranded RNA binding motif. Binding is not sequence specific but is highly specific for double stranded RNA. Found in a variety of proteins including dsRNA dependent protein kinase PKR, RNA helicases, Drosophila staufen protein, E. coli RNase III, ...
    pfam01585
    Location:23052348
    G-patch; G-patch domain
    pfam08430
    Location:10161129
    Fork_head_N; Forkhead N-terminal region
    cl11396
    Location:359457
    Patatin_and_cPLA2; Patatins and Phospholipases

RNA

  1. NR_103797.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (c) contains an alternate internal exon and uses an alternate splice site at the 3' exon, compared to variant f. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant f, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF380181, AK307612, AP000303, BC046101
    Related
    ENST00000455528, OTTHUMT00000140980

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p2 Primary Assembly

    Range
    33543038..33577514
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018932.2 Alternate CHM1_1.1

    Range
    34478027..34512464
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_003103.5: Suppressed sequence

    Description
    NM_003103.5: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  2. NM_138925.1: Suppressed sequence

    Description
    NM_138925.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  3. NR_103796.1: Suppressed sequence

    Description
    NR_103796.1: This RefSeq was permanently suppressed because it is now thought that this transcript variant does encode a protein.
  4. NR_103798.1: Suppressed sequence

    Description
    NR_103798.1: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.