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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
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr15:83489200-83609222 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 15, 39.40 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3484 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1890616
 protein coding gene Chr15:83486784-83609252 (-)
129S1/SvImJ MGP_129S1SvImJ_G0022169
 protein coding gene Chr15:84317016-84451164 (-)
A/J MGP_AJ_G0022128
 protein coding gene Chr15:81227707-81351808 (-)
AKR/J MGP_AKRJ_G0022103
 protein coding gene Chr15:83592430-83722021 (-)
BALB/cJ MGP_BALBcJ_G0022134
 protein coding gene Chr15:81370170-81494615 (-)
C3H/HeJ MGP_C3HHeJ_G0021904
 protein coding gene Chr15:83551077-83677773 (-)
C57BL/6NJ MGP_C57BL6NJ_G0022579
 protein coding gene Chr15:87566532-87698501 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0020104
 protein coding gene Chr15:77602548-77726312 (-)
CAST/EiJ MGP_CASTEiJ_G0021426
 protein coding gene Chr15:84320460-84448572 (-)
CBA/J MGP_CBAJ_G0021871
 protein coding gene Chr15:90337323-90473508 (-)
DBA/2J MGP_DBA2J_G0021998
 protein coding gene Chr15:80713033-80836788 (-)
FVB/NJ MGP_FVBNJ_G0021977
 protein coding gene Chr15:79756451-79888134 (-)
LP/J MGP_LPJ_G0022069
 protein coding gene Chr15:84487584-84616561 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0021997
 protein coding gene Chr15:95233711-95363466 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0022594
 protein coding gene Chr15:83595660-83722313 (-)
PWK/PhJ MGP_PWKPhJ_G0021167
 protein coding gene Chr15:80704718-80829974 (-)
SPRET/EiJ MGP_SPRETEiJ_G0021001
 protein coding gene Chr15:83330609-83454736 (-)
WSB/EiJ MGP_WSBEiJ_G0021475
 protein coding gene Chr15:84098532-84228187 (-)



Homology
more
  • Human Ortholog
    SCUBE1, signal peptide, CUB domain and EGF like domain containing 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SCUBE1, signal peptide, CUB domain and EGF like domain containing 1
  • Links
    NCBI Gene ID: 80274
    neXtProt AC: NX_Q8IWY4
    UniProt: Q8IWY4

  • Chr Location
    22q13.2; chr22:43197280-43343372 (-)  GRCh38
Human Diseases
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  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    31 phenotypes from 3 alleles in 3 genetic backgrounds
    25 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.
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
less
  • All GO Annotations
    13
  • GO References
    6
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    787
  • Tissues
    56
  • cDNA Data
    44
  • Literature Summary
    11
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000016763 Ensembl Gene Model | MGI Sequence Detail 120023 C57BL/6J ±  kb
    transcript ENSMUST00000016907 Ensembl | MGI Sequence Detail 3991 Not Applicable  
    polypeptide ENSMUSP00000016907 Ensembl | MGI Sequence Detail 1018 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000014545 signal peptide, CUB and EGF-like domain-containing protein 1
      (term hierarchy)
    • 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
      IPR000742 EGF-like domain
      IPR000152 EGF-type aspartate/asparagine hydroxylation site
      IPR009030 Growth factor receptor cysteine-rich domain superfamily
      IPR049883 NOTCH1 EGF-like calcium-binding domain
      IPR052071 Signal peptide, CUB and EGF-like domain-containing protein
      IPR035914 Spermadhesin, CUB domain superfamily
      IPR011641 Tyrosine-protein kinase ephrin type A/B receptor-like
    • GlyGen
      Q6NZL8 7 sites, 8 N-linked glycans (5 sites)
    Molecular
    Reagents
    less
    • All nucleic 47
      Genomic 2
      cDNA 44
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2146043, MGI:2444992
    References
    more
    • Summaries
      All 62
      Developmental Gene Expression 11
      Diseases 1
      Gene Ontology 6
      Phenotypes 25
    • Earliest
      J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory