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    SUGP1 SURP and G-patch domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 57794, updated on 28-Oct-2024

    Summary

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    Official Symbol
    SUGP1provided by HGNC
    Official Full Name
    SURP and G-patch domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:18643
    See related
    Ensembl:ENSG00000105705 MIM:607992; AllianceGenome:HGNC:18643
    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
    RBP; SF4; F23858
    Summary
    SF4 is a member of the SURP family of splicing factors.[supplied by OMIM, Sep 2003]
    Expression
    Ubiquitous expression in testis (RPKM 17.9), spleen (RPKM 9.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SUGP1 in Genome Data Viewer
    Location:
    19p13.11
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (19276033..19320509, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (19413485..19457965, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (19386842..19431318, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19380555-19381056 Neighboring gene hyaluronan and proteoglycan link protein 4 Neighboring gene transmembrane 6 superfamily member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14344 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:19431454-19432425 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:19446492-19447691 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19447717-19448218 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19452846-19453354 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10437 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10438 Neighboring gene MAU2 sister chromatid cohesion factor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19459741-19460241 Neighboring gene uncharacterized LOC124904656 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14347 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14346 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14348 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14349 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr19:19481673-19482872 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19489171-19489816 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10439 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14350 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19505798-19506651 Neighboring gene GATA zinc finger domain containing 2A Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr19:19515640-19516548 and GRCh37_chr19:19516549-19517455 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14352 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10443 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14353 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19538881-19539384 Neighboring gene microRNA 640

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Pan-cancer analysis identifies mutations in SUGP1 that recapitulate mutant SF3B1 splicing dysregulation. Liu Z, et al. Proc Natl Acad Sci U S A, 2020 May 12. PMID 32332164, Free PMC Article
    2. Genetic alterations of SUGP1 mimic mutant-SF3B1 splice pattern in lung adenocarcinoma and other cancers. Alsafadi S, et al. Oncogene, 2021 Jan. PMID 33057152, Free PMC Article
    3. Splicing quality control mediated by DHX15 and its G-patch activator SUGP1. Feng Q, et al. Cell Rep, 2023 Oct 31. PMID 37805921, Free PMC Article
    4. Disease-Causing Mutations in SF3B1 Alter Splicing by Disrupting Interaction with SUGP1. Zhang J, et al. Mol Cell, 2019 Oct 3. PMID 31474574, Free PMC Article
    5. SUGP1 is a novel regulator of cholesterol metabolism. Kim MJ, et al. Hum Mol Genet, 2016 Jul 15. PMID 27206982, Free PMC Article

    See all (79) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Splicing quality control mediated by DHX15 and its G-patch activator SUGP1.
      Title: Splicing quality control mediated by DHX15 and its G-patch activator SUGP1.
    2. DHX15 is involved in SUGP1-mediated RNA missplicing by mutant SF3B1 in cancer.
      Title: DHX15 is involved in SUGP1-mediated RNA missplicing by mutant SF3B1 in cancer.
    3. Genetic alterations of SUGP1 mimic mutant-SF3B1 splice pattern in lung adenocarcinoma and other cancers.
      Title: Genetic alterations of SUGP1 mimic mutant-SF3B1 splice pattern in lung adenocarcinoma and other cancers.
    4. Mutations in SUGP1 that recapitulate mutant SF3B1 splicing dysregulation is associated with cancer.
      Title: Pan-cancer analysis identifies mutations in SUGP1 that recapitulate mutant SF3B1 splicing dysregulation.
    5. SUGP1 loss is a common defect of spliceosomes with disease-causing SF3B1 mutations in myelodysplastic syndromes and cancers.
      Title: Disease-Causing Mutations in SF3B1 Alter Splicing by Disrupting Interaction with SUGP1.
    6. Our results strongly support a role for SUGP1 as a novel regulator of cholesterol metabolism and suggest that it contributes to the relationship between rs10401969 and plasma cholesterol
      Title: SUGP1 is a novel regulator of cholesterol metabolism.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Common variants at 30 loci contribute to polygenic dyslipidemia.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
    EBI GWAS Catalog
    Genome-wide analysis of hepatic lipid content in extreme obesity.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp434E2216

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in RNA splicing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    part_of spliceosomal complex IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    SURP and G-patch domain-containing protein 1
    Names
    RNA-binding protein RBP
    splicing factor 4

    NCBI Reference Sequences (RefSeq)

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    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_172231.4 → NP_757386.2  SURP and G-patch domain-containing protein 1

      See identical proteins and their annotated locations for NP_757386.2

      Status: VALIDATED

      Source sequence(s)
      AC003967, AY072917, DC363162
      Consensus CDS
      CCDS12399.1
      UniProtKB/Swiss-Prot
      O60378, Q6P3X9, Q8IWZ8, Q8TCQ4, Q8WWT4, Q8WWT5, Q9NTG3
      UniProtKB/TrEMBL
      A5PLN4, A8K7S0
      Related
      ENSP00000247001.3, ENST00000247001.10
      Conserved Domains (3) summary
      smart00648
      Location:264 → 318
      SWAP; Suppressor-of-White-APricot splicing regulator
      pfam01585
      Location:563 → 607
      G-patch; G-patch domain
      pfam01805
      Location:190 → 241
      Surp; Surp module

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      19276033..19320509 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439142.1 → XP_047295098.1  SURP and G-patch domain-containing protein 1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      19413485..19457965 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321580.1 → XP_054177555.1  SURP and G-patch domain-containing protein 1 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_021164.2: Suppressed sequence

      Description
      NM_021164.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

    2. NM_182812.1: Suppressed sequence

      Description
      NM_182812.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IWZ8.2 GenPept UniProtKB/Swiss-Prot:Q8IWZ8

    Gene LinkOut

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

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