Format

Send to:

Choose Destination

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

Gene ID: 80274, updated on 17-Jun-2019

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
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

Genomic context

See SCUBE1 in Genome Data Viewer
Location:
22q13.2
Exon count:
22
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (43197280..43343372, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (43599229..43739394, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene translocator protein Neighboring gene tubulin tyrosine ligase like 12 Neighboring gene uncharacterized LOC105373051 Neighboring gene uncharacterized LOC101927447 Neighboring gene uncharacterized LOC105373053 Neighboring gene long intergenic non-protein coding RNA 1639

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ30901, FLJ31928

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding TAS
Traceable Author Statement
more info
PubMed 
identical protein binding IDA
Inferred from Direct Assay
more info
PubMed 
protein heterodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
adult heart development NAS
Non-traceable Author Statement
more info
PubMed 
blood coagulation NAS
Non-traceable Author Statement
more info
PubMed 
endothelial cell differentiation NAS
Non-traceable Author Statement
more info
PubMed 
extracellular matrix disassembly TAS
Traceable Author Statement
more info
 
inflammatory response NAS
Non-traceable Author Statement
more info
PubMed 
positive regulation of smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
post-embryonic development NAS
Non-traceable Author Statement
more info
PubMed 
protein homooligomerization IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
cell surface IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
external side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
extrinsic component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

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)

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

  1. NG_029056.3 RefSeqGene

    Range
    5001..145166
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_173050.5NP_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
    Q8IWY4
    UniProtKB/TrEMBL
    A0JP65, Q6ZS56, Q86TI6
    Related
    ENSP00000354080.3, ENST00000360835.9
    Conserved Domains (5) summary
    cd00041
    Location:798909
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    pfam07699
    Location:746793
    GCC2_GCC3; GCC2 and GCC3
    pfam12947
    Location:3772
    EGF_3; EGF domain
    pfam14670
    Location:245280
    FXa_inhibition; Coagulation Factor Xa inhibitory site
    cl00057
    Location:318354
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    43197280..43343372 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. 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.
  2. NR_147916.1: Suppressed sequence

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