SCUBE1 signal peptide, CUB domain and EGF like domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SCUBE1provided by HGNC
Official Full Name: signal peptide, CUB domain and EGF like domain containing 1provided by HGNC
Primary source: HGNC:HGNC:13441
See related: Ensembl:ENSG00000159307 MIM:611746; AllianceGenome:HGNC:13441
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
Summary: This gene encodes a cell surface glycoprotein that is a member of the SCUBE (signal peptide, CUB domain, EGF (epidermal growth factor)-like protein) family. Family members have an amino-terminal signal peptide, nine copies of EGF-like repeats and a CUB domain at the carboxyl terminus. This protein is expressed in platelets and endothelial cells and may play an important role in vascular biology. [provided by RefSeq, Oct 2011]
Expression: Broad expression in ovary (RPKM 8.0), testis (RPKM 5.9) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.2

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (43197280..43343372, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (43678148..43824408, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (43593286..43739378, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SCUBE1 promotes pulmonary artery smooth muscle cell proliferation and migration in acute pulmonary embolism by modulating BMP7.
Title: SCUBE1 promotes pulmonary artery smooth muscle cell proliferation and migration in acute pulmonary embolism by modulating BMP7.
Could SCUBE-1 be a marker for subclinical atherosclerosis other than carotid artery intima-media thickness in patients with psoriasis?
Title: Could SCUBE-1 be a marker for subclinical atherosclerosis other than carotid artery intima-media thickness in patients with psoriasis?
The diagnostic potential of plasma SCUBE-1 concentration for pulmonary embolism: A pilot study.
Title: The diagnostic potential of plasma SCUBE-1 concentration for pulmonary embolism: A pilot study.
Predictive Value of Combined Plasma D-Dimer, SCUBE1, and Right Ventricular Tei Index for the Prognosis of Elderly Patients with Acute Pulmonary Thromboembolism.
Title: Predictive Value of Combined Plasma D-Dimer, SCUBE1, and Right Ventricular Tei Index for the Prognosis of Elderly Patients with Acute Pulmonary Thromboembolism.
SCUBE1 is associated with thrombotic complications, disease severity, and in-hospital mortality in COVID-19 patients.
Title: SCUBE1 is associated with thrombotic complications, disease severity, and in-hospital mortality in COVID-19 patients.
Pericardial SCUBE1 levels may help predict postoperative results in patients operated on for coronary artery bypass graft surgery.
Title: Pericardial SCUBE1 levels may help predict postoperative results in patients operated on for coronary artery bypass graft surgery.
Evaluation of SCUBE-1 levels as a placental dysfunction marker at gestational diabetes mellitus.
Title: Evaluation of SCUBE-1 levels as a placental dysfunction marker at gestational diabetes mellitus.
The relationship of serum SCUBE-1, -2 and -3 levels with clinical findings and ultrasonographic skin thickness in systemic sclerosis patients.
Title: The relationship of serum SCUBE-1, -2 and -3 levels with clinical findings and ultrasonographic skin thickness in systemic sclerosis patients.
De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette's Disorder and Autism.
Title: De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette's Disorder and Autism.
Hemodialysis may contribute to cardiovascular events because of increased SCUBE1 levels after hemodialysis; however, no association was shown between SCUBE1 and electrocardiography/echocardiography findings.
Title: Relationship Between SCUBE1 Levels and Echocardiography and Electrocardiography Findings and Epicardial Adipose Tissue/Carotid Intima-Media Thickness in Patients Receiving Renal Replacement Therapy.

Submit: New GeneRIF Correction See all GeneRIFs (22)

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
Genome-wide association study (GWAS) for molar-incisor hypomineralization (MIH). EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. EBI GWAS Catalog EBI GWAS CatalogPubMed
Preliminary evidence of genetic determinants of adiponectin response to fenofibrate in the Genetics of Lipid Lowering Drugs and Diet Network. 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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Markers

D22S1681 (e-PCR)
- UniSTS:37956

NoName (e-PCR)
- UniSTS:481186

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	TAS Traceable Author Statement more info	PubMed
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in adult heart development	NAS Non-traceable Author Statement more info	PubMed
involved_in blood coagulation	NAS Non-traceable Author Statement more info	PubMed
involved_in endothelial cell differentiation	NAS Non-traceable Author Statement more info	PubMed
involved_in inflammatory response	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of smoothened signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in post-embryonic development	NAS Non-traceable Author Statement more info	PubMed
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cell surface	IBA Inferred from Biological aspect of Ancestor more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: signal peptide, CUB and EGF-like domain-containing protein 1

Names: signal peptide, CUB domain, EGF-like 1; signal peptide-CUB domain-EGF-related 1

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.

Genomic

NG_029056.3 RefSeqGene

Range

5017..151109

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_173050.5 → NP_766638.2 signal peptide, CUB and EGF-like domain-containing protein 1 precursor

See identical proteins and their annotated locations for NP_766638.2

Status: REVIEWED

Source sequence(s)

Z82214, Z99756

Consensus CDS

CCDS14048.1

UniProtKB/Swiss-Prot

Q5R336, Q8IWY4

Related

ENSP00000354080.3, ENST00000360835.9

Conserved Domains (5) summary

cd00041
Location:798 → 909

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

pfam07699
Location:746 → 793

GCC2_GCC3; GCC2 and GCC3

pfam12947
Location:37 → 72

EGF_3; EGF domain

pfam14670
Location:245 → 280

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:318 → 354

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

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

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

43197280..43343372 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060946.1 Alternate T2T-CHM13v2.0

Range

43678148..43824408 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_152514.1: Suppressed sequence

Description

NM_152514.1: This RefSeq was removed because it is now thought that this gene does not encode a protein.
NR_147916.1: Suppressed sequence

Description

NR_147916.1: This RefSeq was removed because the gene was discontinued.