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SETBP1 SET binding protein 1 [ Homo sapiens (human) ]

Gene ID: 26040, updated on 19-Jul-2014
Official Symbol
SETBP1provided by HGNC
Official Full Name
SET binding protein 1provided by HGNC
Primary source
HGNC:15573
See related
Ensembl:ENSG00000152217; HPRD:10224; MIM:611060; Vega:OTTHUMG00000132613
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
SEB
Summary
This gene encodes a protein which contains a several motifs including a ski homology region and a SET-binding region in addition to three nuclear localization signals. The encoded protein has been shown to bind the SET nuclear oncogene which is involved in DNA replication. Mutations in this gene are associated with Schinzel-Giedion midface retraction syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
See SETBP1 in Epigenomics, MapViewer
Location:
18q21.1
Exon count:
9
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 18 NC_000018.10 (44680173..45068510)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (42258849..42648475)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101927921 Neighboring gene uncharacterized LOC101927943 Neighboring gene microRNA 4319 Neighboring gene uncharacterized LOC101927961 Neighboring gene solute carrier family 14 (urea transporter), member 2 Neighboring gene uncharacterized LOC101927980

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Schinzel-Giedion syndrome
MedGen: C1849294 OMIM: 269150 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2013-08-01)

ISCA Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated (2013-08-01)

ISCA Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA0437, DKFZp666J1210

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
SET-binding protein
Names
SET-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.

Genomic

  1. NG_027527.1 

    Range
    5001..393338
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001130110.1NP_001123582.1  SET-binding protein isoform b

    See proteins identical to NP_001123582.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, 3' UTR, and coding region compared to variant 1. The resulting isoform (b) has a shorter and distinct C-terminus compared to isoform a.
    Source sequence(s)
    BC062338, CF143191
    Consensus CDS
    CCDS45859.1
    UniProtKB/Swiss-Prot
    Q9Y6X0
    Related
    ENSP00000390687, OTTHUMP00000209757, ENST00000426838, OTTHUMT00000343906
  2. NM_015559.2NP_056374.2  SET-binding protein isoform a

    See proteins identical to NP_056374.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC090376, AC105074, BC146776, BQ641251
    Consensus CDS
    CCDS11923.2
    UniProtKB/Swiss-Prot
    Q9Y6X0
    Related
    ENSP00000282030, OTTHUMP00000163447, ENST00000282030, OTTHUMT00000255854

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000018.10 

    Range
    44680173..45068510
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005258243.2XP_005258300.1  

    See proteins identical to XP_005258300.1

    UniProtKB/Swiss-Prot
    Q9Y6X0
  2. XM_005258244.2XP_005258301.1  

  3. XM_006722438.1XP_006722501.1  

Alternate HuRef

Genomic

  1. AC_000150.1 

    Range
    39118875..39506275
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018929.2 

    Range
    42187179..42575496
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)