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Aliases for SVEP1 Gene

Aliases for SVEP1 Gene

  • Sushi, Von Willebrand Factor Type A, EGF And Pentraxin Domain Containing 1 2 3 5
  • Serologically Defined Breast Cancer Antigen NY-BR-38 3 4
  • Selectin-Like Osteoblast-Derived Protein 3 4
  • CCP Module-Containing Protein 22 3 4
  • POLYDOM 3 4
  • C9orf13 3 4
  • SEL-OB 3 4
  • CCP22 3 4
  • SELOB 3 4
  • Sushi, Von Willebrand Factor Type A, EGF And Pentraxin Domain-Containing Protein 1 3
  • Chromosome 9 Open Reading Frame 13 2
  • Selectin-Like Protein 3

External Ids for SVEP1 Gene

Previous HGNC Symbols for SVEP1 Gene

  • C9orf13

Previous GeneCards Identifiers for SVEP1 Gene

  • GC09U900662
  • GC09M110209
  • GC09M112167
  • GC09M113127
  • GC09M082729

Summaries for SVEP1 Gene

GeneCards Summary for SVEP1 Gene

SVEP1 (Sushi, Von Willebrand Factor Type A, EGF And Pentraxin Domain Containing 1) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include calcium ion binding and chromatin binding. An important paralog of this gene is CSMD1.

UniProtKB/Swiss-Prot for SVEP1 Gene

  • May play a role in the cell attachment process.

Additional gene information for SVEP1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SVEP1 Gene

Genomics for SVEP1 Gene

GeneHancer (GH) Regulatory Elements for SVEP1 Gene

Promoters and enhancers for SVEP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09I110578 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 550.8 -0.6 -553 4.5 INSM2 ZNF335 ZNF366 RCOR1 ZBTB11 CEBPB ZNF398 REST KLF16 ZNF341 GC09P110579 SVEP1 MUSK ENSG00000232896
GH09I111033 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.2 -456.8 -456780 6.5 RB1 SIN3A ZNF76 ZNF2 RAD21 ZNF335 GLIS2 ZNF143 ATF7 RCOR1 LPAR1 SVEP1 PTGR1 ENSG00000207401
GH09I110554 Enhancer 0.9 Ensembl ENCODE 11.5 +24.3 24268 2.4 FOXA2 MAX RAD21 RFX5 RCOR1 RXRA HLF CEBPB REST EP300 SVEP1 GC09M110541 GC09P110579
GH09I110443 Enhancer 0.9 ENCODE dbSUPER 6.1 +135.9 135913 1.5 JUN TEAD4 TAL1 TCF12 POLR2A CBFA2T2 RCOR1 FOSL2 FOS CHD2 SVEP1 GC09M110370 RNU6-1039P GC09M110541
GH09I110430 Enhancer 0.7 dbSUPER 5.9 +148.1 148132 2.7 HDAC1 TEAD4 TAL1 FOSL1 TCF12 CCNT2 CTBP1 GATA2 NCOR1 CBFA2T2 SVEP1 RNU6-1039P GC09M110370 GC09M110541
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SVEP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SVEP1 gene promoter:

Genomic Locations for SVEP1 Gene

Genomic Locations for SVEP1 Gene
chr9:110,365,248-110,579,880
(GRCh38/hg38)
Size:
214,633 bases
Orientation:
Minus strand
chr9:113,127,528-113,342,160
(GRCh37/hg19)

Genomic View for SVEP1 Gene

Genes around SVEP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SVEP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SVEP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SVEP1 Gene

Proteins for SVEP1 Gene

  • Protein details for SVEP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q4LDE5-SVEP1_HUMAN
    Recommended name:
    Sushi, von Willebrand factor type A, EGF and pentraxin domain-containing protein 1
    Protein Accession:
    Q4LDE5
    Secondary Accessions:
    • Q0P675
    • Q5D213
    • Q5T938
    • Q5VTE4
    • Q5VTE5
    • Q7Z387
    • Q7Z3G3
    • Q8NBT9
    • Q96JU7
    • Q9H284
    • Q9H8J9

    Protein attributes for SVEP1 Gene

    Size:
    3571 amino acids
    Molecular mass:
    390170 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAG48257.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAG48257.1; Type=Frameshift; Positions=2630, 2638, 2655; Evidence={ECO:0000305}; Sequence=BAB14617.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB55420.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAH73557.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAH73558.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAH74138.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAH74139.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI14068.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for SVEP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SVEP1 Gene

Post-translational modifications for SVEP1 Gene

  • O-glycosylated with core 1 or possibly core 8 glycans.
  • Glycosylation at posLast=186186, posLast=847847, isoforms=41102, posLast=30183018, and isoforms=33186
  • Modification sites at PhosphoSitePlus

Other Protein References for SVEP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SVEP1 Gene

Domains & Families for SVEP1 Gene

Gene Families for SVEP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for SVEP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SVEP1: view

No data available for UniProtKB/Swiss-Prot for SVEP1 Gene

Function for SVEP1 Gene

Molecular function for SVEP1 Gene

UniProtKB/Swiss-Prot Function:
May play a role in the cell attachment process.

Phenotypes From GWAS Catalog for SVEP1 Gene

Gene Ontology (GO) - Molecular Function for SVEP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IEA --
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with SVEP1: view
genes like me logo Genes that share phenotypes with SVEP1: view

Animal Models for SVEP1 Gene

MGI Knock Outs for SVEP1:

Animal Model Products

  • Taconic Biosciences Mouse Models for SVEP1

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SVEP1 Gene

Localization for SVEP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SVEP1 Gene

Secreted. Cytoplasm. Membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SVEP1 gene
Compartment Confidence
extracellular 4
plasma membrane 3
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for SVEP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IEA --
GO:0005737 cytoplasm IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SVEP1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SVEP1 Gene

Pathways & Interactions for SVEP1 Gene

SuperPathways for SVEP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SVEP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
genes like me logo Genes that share ontologies with SVEP1: view

No data available for Pathways by source and SIGNOR curated interactions for SVEP1 Gene

Drugs & Compounds for SVEP1 Gene

No Compound Related Data Available

Transcripts for SVEP1 Gene

mRNA/cDNA for SVEP1 Gene

(1) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SVEP1 Gene

Sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SVEP1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
SP1:
SP2: -

Relevant External Links for SVEP1 Gene

GeneLoc Exon Structure for
SVEP1
ECgene alternative splicing isoforms for
SVEP1

Expression for SVEP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SVEP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SVEP1 Gene

This gene is overexpressed in Adipose - Subcutaneous (x4.9) and Adipose - Visceral (Omentum) (x4.5).

Protein differential expression in normal tissues from HIPED for SVEP1 Gene

This gene is overexpressed in Liver (53.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SVEP1 Gene



NURSA nuclear receptor signaling pathways regulating expression of SVEP1 Gene:

SVEP1

SOURCE GeneReport for Unigene cluster for SVEP1 Gene:

Hs.522334

mRNA Expression by UniProt/SwissProt for SVEP1 Gene:

Q4LDE5-SVEP1_HUMAN
Tissue specificity: Present in mesenchymal primary cultured cell lysates (at protein level). Highly expressed in placenta. Also expressed in marrow stromal cell. Weakly or not expressed in other tissues.

Evidence on tissue expression from TISSUES for SVEP1 Gene

  • Intestine(4.1)
genes like me logo Genes that share expression patterns with SVEP1: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SVEP1 Gene

Orthologs for SVEP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SVEP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SVEP1 33 34
  • 99.54 (n)
dog
(Canis familiaris)
Mammalia SVEP1 33 34
  • 88.15 (n)
cow
(Bos Taurus)
Mammalia LOC781282 33
  • 87.94 (n)
SVEP1 34
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Svep1 33 16 34
  • 82.68 (n)
rat
(Rattus norvegicus)
Mammalia Svep1 33
  • 82.49 (n)
oppossum
(Monodelphis domestica)
Mammalia SVEP1 34
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SVEP1 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves SVEP1 33 34
  • 71.67 (n)
lizard
(Anolis carolinensis)
Reptilia SVEP1 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia svep1 33
  • 64.32 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC567357 33
  • 57.66 (n)
SVEP1 34
  • 54 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000685 33
  • 45.72 (n)
fruit fly
(Drosophila melanogaster)
Insecta hig 34
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea lev-9 34
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 29 (a)
OneToOne
Species where no ortholog for SVEP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SVEP1 Gene

ENSEMBL:
Gene Tree for SVEP1 (if available)
TreeFam:
Gene Tree for SVEP1 (if available)

Paralogs for SVEP1 Gene

Paralogs for SVEP1 Gene

(6) SIMAP similar genes for SVEP1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SVEP1: view

Variants for SVEP1 Gene

Sequence variations from dbSNP and Humsavar for SVEP1 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000063051 -- 110,402,821(-) TT/T intron_variant
rs1000067455 -- 110,553,356(-) G/C intron_variant
rs1000076314 -- 110,455,072(-) A/G intron_variant
rs1000088381 -- 110,539,237(-) G/A intron_variant
rs1000122178 -- 110,579,069(-) C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for SVEP1 Gene

Variant ID Type Subtype PubMed ID
dgv1263e201 CNV deletion 23290073
esv27004 CNV loss 19812545
esv2738924 CNV deletion 23290073
esv2738926 CNV deletion 23290073
esv2752274 CNV gain 17911159
esv3304478 CNV mobile element insertion 20981092
esv3389008 CNV insertion 20981092
esv3573358 CNV loss 25503493
esv3621463 CNV loss 21293372
esv3621464 CNV gain 21293372
esv3621465 CNV gain 21293372
esv3621466 CNV loss 21293372
esv3891709 CNV loss 25118596
nsv1037686 CNV gain 25217958
nsv1142038 OTHER inversion 24896259
nsv416225 CNV deletion 16902084
nsv466482 CNV gain 19166990
nsv466484 CNV loss 19166990
nsv476272 CNV novel sequence insertion 20440878
nsv516479 CNV loss 19592680
nsv518626 CNV gain 19592680
nsv521593 CNV loss 19592680
nsv522509 CNV gain 19592680
nsv615152 CNV gain 21841781
nsv615173 CNV loss 21841781
nsv825038 CNV gain 20364138

Variation tolerance for SVEP1 Gene

Residual Variation Intolerance Score: 92% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 26.58; 99.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SVEP1 Gene

Human Gene Mutation Database (HGMD)
SVEP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SVEP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SVEP1 Gene

Disorders for SVEP1 Gene

Additional Disease Information for SVEP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for SVEP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SVEP1 Gene

Publications for SVEP1 Gene

  1. Polydom: a secreted protein with pentraxin, complement control protein, epidermal growth factor and von Willebrand factor A domains. (PMID: 11062057) Gilgès D … Vigon I (The Biochemical journal 2000) 3 4 22 58
  2. Genome-wide association study of lung function decline in adults with and without asthma. (PMID: 22424883) Imboden M … Probst-Hensch NM (The Journal of allergy and clinical immunology 2012) 3 44 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Joint influence of small-effect genetic variants on human longevity. (PMID: 20834067) Yashin AI … Ukraintseva SV (Aging 2010) 3 44 58
  5. Fine mapping of the 9q31 Hirschsprung's disease locus. (PMID: 20361209) Tang CS … Garcia-Barceló MM (Human genetics 2010) 3 44 58

Products for SVEP1 Gene

Sources for SVEP1 Gene

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