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Scube1 Gene Detail
Summary
  • Symbol
    Scube1
  • Name
    signal peptide, CUB domain, EGF-like 1
  • Synonyms
    7330410C13Rik, A630023E24Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1890616
    NCBI Gene: 64706
Location & Maps
more
  • Sequence Map
    Chr15:83604999-83725021 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      120023 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 39.40 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    SCUBE1, signal peptide, CUB domain and EGF like domain containing 1
  • Vertebrate Orthologs
    9
  • Human Ortholog
    SCUBE1, signal peptide, CUB domain and EGF like domain containing 1
    Orthology source: HGNC, HomoloGene
  • Links
    NCBI Gene ID: 80274
    neXtProt AC: NX_Q8IWY4

  • Chr Location
    22q13; chr22:43203223-43343388 (-)  GRCh38.p2

Human Diseases
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  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    21 phenotypes from 1 allele in 1 genetic background
    20 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    5
  • Chemically induced (other)
    1
  • Radiation induced
    2
  • Targeted
    2
  • Genomic Mutations
    3 involving Scube1
  • Incidental Mutations
A fraction of homozygotes die neonatally with acrania and loss of brain tissue. Early skull bone defects include lack of the interparietal and supraoccipital bones and cranial vault. Affected mutant embryos show exencephaly, a thick-walled forebrain neuroepithelium and hyperplastic cranial ganglia.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021075 VEGA Gene Model | MGI Sequence Detail 120023 C57BL/6J ±  kb
transcript OTTMUST00000049851 VEGA | MGI Sequence Detail 3991 Not Applicable  
polypeptide OTTMUSP00000023167 VEGA | MGI Sequence Detail 1018 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    942 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000014545 signal peptide, CUB and EGF-like domain-containing protein 1
  • InterPro Domains
    IPR026823 Complement Clr-like EGF domain
    IPR000859 CUB domain
    IPR024731 EGF domain
    IPR018097 EGF-like calcium-binding, conserved site
    IPR001881 EGF-like calcium-binding domain
    IPR013032 EGF-like, conserved site
    IPR000742 EGF-like domain
    IPR000152 EGF-type aspartate/asparagine hydroxylation site
    IPR023413 Green fluorescent protein-like
    IPR009030 Growth factor receptor cysteine-rich domain
    IPR011641 Tyrosine-protein kinase ephrin type A/B receptor-like
Molecular
Reagents
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  • All nucleic 44
    Genomic 1
    cDNA 42
    Primer pair 1

    Microarray probesets 4
Other
Accession IDs
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MGI:2146043, MGI:2444992
References
more
  • Summaries
    All 29
    Developmental Gene Expression 5
    Diseases 1
    Gene Ontology 4
    Phenotypes 20
  • Earliest
    J:66050 Grimmond S, et al., Cloning, mapping, and expression analysis of a gene encoding a novel mammalian EGF-related protein (SCUBE1). Genomics. 2000 Nov 15;70(1):74-81
  • Latest
    J:226676 Lin YC, et al., Disruption of Scube2 Impairs Endochondral Bone Formation. J Bone Miner Res. 2015 Jul;30(7):1255-67

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory