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

Gene ID: 57794, updated on 10-Dec-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
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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
  • 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. 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
  3. 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
  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 (80) 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)

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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