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    ECD ecdysoneless homolog (Drosophila) [ Homo sapiens ]

    Gene ID: 11319, updated on 20-May-2012
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    Summary

    Official Symbol
    ECDprovided by HGNC
    Official Full Name
    ecdysoneless homolog (Drosophila)provided by HGNC
    Primary source
    HGNC:17029
    See related
    Ensembl:ENSG00000122882; HPRD:11032; Vega:OTTHUMG00000018451
    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
    GCR2; HSGT1
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    Genomic context

    Location :
    10q22.3
    Sequence :
    Chromosome: 10; NC_000010.10 (74894282..74927853, complement)
    See ECD in Epigenomics, MapViewer

    Chromosome 10 - NC_000010.10Genomic Context describing neighboring genes Neighboring gene prolyl 4-hydroxylase, alpha polypeptide I Neighboring gene nudix (nucleoside diphosphate linked moiety X)-type motif 13 Neighboring gene family with sequence similarity 149, member B1 Neighboring gene eukaryotic translation initiation factor 4A2 pseudogene Neighboring gene DnaJ (Hsp40) homolog, subfamily C, member 9

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Serum HER2/ECD value in stage I and II early breast cancer: need of a lower cut-off? Badzek S, et al. Wien Klin Wochenschr, 2011 Dec. PMID 22113445.
    2. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    3. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    4. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.
    5. Systematic analysis of human protein complexes identifies chromosome segregation proteins. Hutchins JR, et al. Science, 2010 Apr 30. PMID 20360068.

    See all (18) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Serum HER2/ECD concentration of >/=7.7 ng/ml has possible diagnostic value in stage I and II breast cancer. It should not be used as a determinant of HER2 positivity.
      Title: Serum HER2/ECD value in stage I and II early breast cancer: need of a lower cut-off?
    2. Ecd localizes to both nucleus & cytoplasm & shuttles between the nucleus and cytoplasm; however, it exhibits strong nuclear export. Based on previous yeast studies & evidence provided here, we suggest that Ecd functions as a transcriptional regulator.
      Title: Biochemical characterization of human Ecdysoneless reveals a role in transcriptional regulation.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    O95905 P04150 NR3C1    HPRD  PubMed  
    BioGRID:116450 BioGRID:108431 EWSR1    BioGRID  PubMed Two-hybrid 
    BioGRID:116450 BioGRID:109165 NR3C1    BioGRID  PubMed Two-hybrid 
    BioGRID:116450 BioGRID:228650 Prpf8    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:116450 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Potential readthrough

    Included gene: P4HA1

    Homology

    • Homologs of the ECD gene: The ECD gene is conserved in chimpanzee, , dog, cow, mouse, chicken, zebrafish, fruit fly, mosquito, , N.crassa, A.thaliana, and rice.
    • Map Viewer (Mouse)

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    transcription coactivator activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    regulation of glycolysis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    regulation of transcription, DNA-dependent IEA
    Inferred from Electronic Annotation
    more info
    		  
    transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    protein SGT1
    Names
    protein SGT1
    suppressor of GCR2
    protein ecdysoneless homolog
    suppressor of S. cerevisiae gcr2
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    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_001135752.1 → NP_001129224.1  protein SGT1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) omits an in-frame coding exon compared to variant 1 resulting in a shorter protein isoform (2).
      Source sequence(s)
      AK225519, AK315711, BC103720, BM763002
      Consensus CDS
      CCDS44434.1
      UniProtKB/TrEMBL
      C9JX46
      Related
      ENSP00000401566, ENST00000430082
      Conserved Domains (2) summary
      pfam07093
      Location:13 – 630
      Blast Score: 1610
      SGT1; SGT1 protein
      pfam13900
      Location:379 – 407
      Blast Score: 135
      GVQW; Putative binding domain

    2. NM_001135753.1 → NP_001129225.1  protein SGT1 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant includes an additional in-frame coding exon compared to variant 1 resulting in a longer protein isoform (3).
      Source sequence(s)
      AK225519, BC000721, BC103720, BM763002
      Consensus CDS
      CCDS44433.1
      UniProtKB/TrEMBL
      E9PAW8
      UniProtKB/Swiss-Prot
      O95905
      Related
      ENSP00000395786, ENST00000454759
      Conserved Domains (1) summary
      pfam07093
      Location:13 – 554
      Blast Score: 1393
      SGT1; SGT1 protein

    3. NM_007265.2 → NP_009196.1  protein SGT1 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents a more abundant transcript and encodes isoform 1.
      Source sequence(s)
      BC103720, BM763002, D88208, DA162516
      Consensus CDS
      CCDS7321.1
      UniProtKB/Swiss-Prot
      O95905
      Related
      ENSP00000362070, OTTHUMP00000019795, ENST00000372979, OTTHUMT00000048606
      Conserved Domains (1) summary
      pfam07093
      Location:13 – 597
      Blast Score: 1639
      SGT1; SGT1 protein

    RNA

    1. NR_024203.1 RNA Sequence

      Description
      Transcript Variant: This variant (4) omits the first coding exon and an additional coding exon compared to variant 1. The transcript is a candidate for nonsense-mediated decay (NMD).
      Source sequence(s)
      BC000721, BC103720, BM763002

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000010.10 Reference GRCh37.p5 Primary Assembly

      Range
      74894282..74927853, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000142.1 Alternate HuRef

      Range
      68888072..68921789, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC016394.13 (16813..50347) None
    genomic CH471083.1 EAW54477.1
      EAW54478.1
    mRNA AK022616.1 BAG51097.1
    mRNA AK225519.1 None
    mRNA AK315711.1 None
    mRNA BC000721.2 AAH00721.1
    mRNA BC103720.1 None
    mRNA BM763002.1 None
    mRNA CR457407.1 CAG33688.1
    mRNA D88208.1 BAA75199.1
    mRNA DA162516.1 None
    other-genetic DQ892172.2 ABM83098.1
    other-genetic DQ895366.2 ABM86292.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95905.1 GenPept UniProtKB/Swiss-Prot:O95905
    Q6I9U8 GenPept UniProtKB/TrEMBL:Q6I9U8
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

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