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

Summary

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

Location:: 19p13.11

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (19276033..19320509, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (19413485..19457965, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (19386842..19431318, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	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)

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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

19276033..19320509 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

19413485..19457965 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NM_021164.2: Suppressed sequence

Description

NM_021164.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
NM_182812.1: Suppressed sequence

Description

NM_182812.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.