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Svep1 Gene Detail
Summary
  • Symbol
    Svep1
  • Name
    sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1
  • Synonyms
    1110021D17Rik, 4833413O10Rik, D430029O09Rik, Polydom
  • Feature Type
    protein coding gene
  • IDs
    MGI:1928849
    NCBI Gene: 64817
  • Alliance
    gene page
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:58042796-58206596 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 31.87 cM, cytoband B-C2
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    5401 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1928849
 protein coding gene Chr4:58042442-58206859 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028323
 protein coding gene Chr4:56856540-57035700 (-)
A/J MGP_AJ_G0028284
 protein coding gene Chr4:54701566-54868555 (-)
AKR/J MGP_AKRJ_G0028233
 protein coding gene Chr4:56223572-56391828 (-)
BALB/cJ MGP_BALBcJ_G0028303
 protein coding gene Chr4:54857743-55027474 (-)
C3H/HeJ MGP_C3HHeJ_G0028024
 protein coding gene Chr4:56712259-56879952 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028744
 protein coding gene Chr4:58887156-59058514 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026050
 protein coding gene Chr4:51466503-51634592 (-)
CAST/EiJ MGP_CASTEiJ_G0027462
 protein coding gene Chr4:56449224-56625211 (-)
CBA/J MGP_CBAJ_G0027989
 protein coding gene Chr4:60878985-61063224 (-)
DBA/2J MGP_DBA2J_G0028139
 protein coding gene Chr4:54599510-54767252 (-)
FVB/NJ MGP_FVBNJ_G0028106
 protein coding gene Chr4:53823684-53991509 (-)
LP/J MGP_LPJ_G0028238
 protein coding gene Chr4:56970380-57144056 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028130
 protein coding gene Chr4:64009424-64179666 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028780
 protein coding gene Chr4:56410256-56579843 (-)
PWK/PhJ MGP_PWKPhJ_G0027187
 protein coding gene Chr4:54601236-54775013 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027015
 protein coding gene Chr4:55686762-55874178 (-)
WSB/EiJ MGP_WSBEiJ_G0027540
 protein coding gene Chr4:56358329-56533781 (-)



Homology
more
  • Human Ortholog
    SVEP1, sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SVEP1, sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1
  • Synonyms
    C9orf13, CCP22, POLYDOM, SEL-OB, SELOB
  • Links
    NCBI Gene ID: 79987
    neXtProt AC: NX_Q4LDE5
    UniProt: Q4LDE5

  • Chr Location
    9q31.3; chr9:110365248-110579880 (-)  GRCh38
Human Diseases
less
  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    19 phenotypes from 2 alleles in 3 genetic backgrounds
    4 phenotypes from multigenic genotypes
    16 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.
Homozygous inactivation of this gene results in complete preweaning lethality, edema, abnormal skin coloration, thick epidermis, acanthosis, tail/limb abnormalities, and defects in lymphatic vascular development and valve formation. Heterozygosity for global or SMC-specific KO reduces aortic atherosclerotic plaque burden after high-fat diet.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    44
  • GO References
    14
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
    811
  • Tissues
    33
  • cDNA Data
    30
  • Literature Summary
    7
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 64817 NCBI Gene Model | MGI Sequence Detail 163801 C57BL/6J ±  kb
    transcript NM_022814 RefSeq | MGI Sequence Detail 11275 Not Specified  
    polypeptide A2AVA0 UniProt | EBI | MGI Sequence Detail 3567 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • Protein Ontology
      PR:000015852 sushi, von Willebrand factor type A, EGF and pentraxin domain-containing protein 1
      (term hierarchy)
    • InterPro Domains
      IPR050350 Complement & Cell Adhesion Regulators
      IPR013320 Concanavalin A-like lectin/glucanase domain superfamily
      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
      IPR009030 Growth factor receptor cysteine-rich domain superfamily
      IPR003410 HYR domain
      IPR013783 Immunoglobulin-like fold
      IPR049883 NOTCH1 EGF-like calcium-binding domain
      IPR001759 Pentraxin-related
      IPR000436 Sushi/SCR/CCP domain
      IPR035976 Sushi/SCR/CCP superfamily
      IPR011641 Tyrosine-protein kinase ephrin type A/B receptor-like
      IPR036465 von Willebrand factor A-like domain superfamily
      IPR002035 von Willebrand factor, type A
    • GlyGen
      A2AVA0 9 sites, 6 N-linked glycans (8 sites)
    Molecular
    Reagents
    less
    • All nucleic 31
      cDNA 30
      Primer pair 1

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:1915858, MGI:1921843, MGI:2443593, MGI:3034916
    References
    more
    • Summaries
      All 48
      Developmental Gene Expression 7
      Diseases 1
      Gene Ontology 14
      Phenotypes 16
    • Earliest
      J:65975 Gilges D, et al., Polydom: a secreted protein with pentraxin, complement control protein, epidermal growth factor and von willebrand factor A domains. Biochem J. 2000 Nov 15;352 Pt 1:49-59
    • 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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory