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SPON1 Gene(Protein Coding)

Spondin 1

GCID:
GC11P013940
GIFtS:
43
Genes Participants
UDN Logo

Aliases for SPON1 Gene

Aliases for SPON1 Gene

  • Spondin 1 2 3 5
  • Vascular Smooth Muscle Cell Growth-Promoting Factor 3 4
  • Spondin 1, (F-Spondin) Extracellular Matrix Protein 2 3
  • F-Spondin 3 4
  • Spondin-1 3 4
  • Spondin 1, Extracellular Matrix Protein 3
  • VSGP/F-Spondin 3
  • KIAA0762 4
  • VSGP 4

External Ids for SPON1 Gene

Previous GeneCards Identifiers for SPON1 Gene

  • GC11P015256
  • GC11P014734
  • GC11P014023
  • GC11P013948
  • GC11P013663

Summaries for SPON1 Gene

GeneCards Summary for SPON1 Gene

SPON1 (Spondin 1) is a Protein Coding gene. Diseases associated with SPON1 include Peters-Plus Syndrome and Charcot-Marie-Tooth Disease, Axonal, Type 2E. Among its related pathways are Diseases of glycosylation and GPCR Pathway. An important paralog of this gene is THSD7A.

UniProtKB/Swiss-Prot for SPON1 Gene

  • Cell adhesion protein that promotes the attachment of spinal cord and sensory neuron cells and the outgrowth of neurites in vitro. May contribute to the growth and guidance of axons in both the spinal cord and the PNS (By similarity). Major factor for vascular smooth muscle cell.

Gene Wiki entry for SPON1 Gene

Additional gene information for SPON1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPON1 Gene

Genomics for SPON1 Gene

GeneHancer (GH) Regulatory Elements for SPON1 Gene

Promoters and enhancers for SPON1 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
GH11J013962 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE 608.7 +2.7 2733 6.1 CEBPG MAFK SP1 MZF1 RXRA ZBTB8A ZNF600 PRDM10 CEBPA POLR2A SPON1 GC11M013996
GH11J014518 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 8.8 +557.3 557299 3 ZNF652 CC2D1A SP1 ZFX ELF3 SIX5 ZNF148 NKRF POLR2A MLLT1 ENSG00000256206 PSMA1 COPB1 SPON1 RRAS2
GH11J014028 Enhancer 0.9 Ensembl ENCODE 18 +67.2 67172 2.1 SP1 EGR1 ZBTB8A CTBP1 MNT RFX1 ZBTB17 ZFHX2 NFIB ELF1 SPON1 GC11M013996 GC11M014052
GH11J014015 Enhancer 0.9 Ensembl ENCODE 15.1 +53.2 53161 1.4 NCOA3 PRDM1 ZNF644 FOSL2 PKNOX1 RXRB ZEB2 ZNF629 CTBP1 JUN SPON1 GC11M013996 GC11M014052
GH11J014300 Enhancer 1.1 Ensembl ENCODE dbSUPER 12.1 +338.5 338464 4.6 CC2D1A CTCF ZSCAN21 PRDM1 ZNF384 RAD21 ARID2 IKZF1 ZNF600 REST SPON1 SPON1-AS1 RRAS2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPON1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SPON1 gene promoter:
  • AML1a
  • C/EBPalpha
  • E47
  • LCR-F1
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • RP58
  • SRY
  • Tal-1beta

Genomic Locations for SPON1 Gene

Genomic Locations for SPON1 Gene
chr11:13,962,637-14,268,133
(GRCh38/hg38)
Size:
305,497 bases
Orientation:
Plus strand
chr11:13,983,914-14,289,656
(GRCh37/hg19)
Size:
305,743 bases
Orientation:
Plus strand

Genomic View for SPON1 Gene

Genes around SPON1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPON1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPON1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SPON1 Gene

Proteins for SPON1 Gene

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  • Protein details for SPON1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HCB6-SPON1_HUMAN
    Recommended name:
    Spondin-1
    Protein Accession:
    Q9HCB6
    Secondary Accessions:
    • A8K6W5
    • O94862
    • Q8NCD7
    • Q8WUR5

    Protein attributes for SPON1 Gene

    Size:
    807 amino acids
    Molecular mass:
    90973 Da
    Quaternary structure:
    • Binds to the central extracellular domain of APP and inhibits beta-secretase cleavage of APP.

    Three dimensional structures from OCA and Proteopedia for SPON1 Gene

neXtProt entry for SPON1 Gene

Protein Expression for SPON1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SPON1 Gene

  • Glycosylation at posLast=564564, posLast=620620, isoforms=448, isoforms=507, posLast=623623, isoforms=192, posLast=674674, posLast=451451, isoforms=214, posLast=510510, and isoforms=681
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • SPON1_HUMAN (1768)

Other Protein References for SPON1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for SPON1

No data available for DME Specific Peptides for SPON1 Gene

Domains & Families for SPON1 Gene

Gene Families for SPON1 Gene

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

Protein Domains for SPON1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SPON1 Gene

GenScript: Design optimal peptide antigens:
  • SPON1 protein (Q3ZCT3_HUMAN)
  • Vascular smooth muscle cell growth-promoting factor (SPON1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SPON1: view

No data available for UniProtKB/Swiss-Prot for SPON1 Gene

Function for SPON1 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for SPON1 Gene

UniProtKB/Swiss-Prot Function:
Cell adhesion protein that promotes the attachment of spinal cord and sensory neuron cells and the outgrowth of neurites in vitro. May contribute to the growth and guidance of axons in both the spinal cord and the PNS (By similarity). Major factor for vascular smooth muscle cell.
GENATLAS Biochemistry:
spondin 1 (f-spondin) extracellular matrix protein

Phenotypes From GWAS Catalog for SPON1 Gene

Gene Ontology (GO) - Molecular Function for SPON1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent RCA 20551380
GO:0005515 protein binding IPI 14983046
GO:0046872 metal ion binding IEA --
GO:0050693 LBD domain binding IEA --
genes like me logo Genes that share ontologies with SPON1: view
genes like me logo Genes that share phenotypes with SPON1: view

Animal Models for SPON1 Gene

MGI Knock Outs for SPON1:

Animal Model Products

  • Taconic Biosciences Mouse Models for SPON1

CRISPR Products

miRNA for SPON1 Gene

miRTarBase miRNAs that target SPON1

Clone Products

  • Applied Biological Materials (abm): Clones for SPON1 - Now 50% OFF >
  • * SPON1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * SPON1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SPON1 Gene

Localization for SPON1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPON1 Gene

Secreted, extracellular space, extracellular matrix.

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 SPON1 gene
Compartment Confidence
extracellular 4
endoplasmic reticulum 4
plasma membrane 1
cytoskeleton 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Cytokinetic bridge (2)
  • Microtubule ends (2)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SPON1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space HDA 20551380
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0031012 extracellular matrix IBA 21873635
GO:0062023 colocalizes_with collagen-containing extracellular matrix ISS 22261194
genes like me logo Genes that share ontologies with SPON1: view

Pathways & Interactions for SPON1 Gene

GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards
genes like me logo Genes that share pathways with SPON1: view

Gene Ontology (GO) - Biological Process for SPON1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IBA 21873635
GO:0010954 positive regulation of protein processing IEA --
GO:0032092 positive regulation of protein binding IEA --
GO:1902430 negative regulation of amyloid-beta formation IEA --
GO:1902993 positive regulation of amyloid precursor protein catabolic process IEA --
genes like me logo Genes that share ontologies with SPON1: view

No data available for SIGNOR curated interactions for SPON1 Gene

Drugs & Compounds for SPON1 Gene

Products:

  1. Drug
GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards

(1) Additional Compounds for SPON1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SPON1: view

Transcripts for SPON1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for SPON1 Gene

(1) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(248) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for SPON1 Gene

Spondin 1, extracellular matrix protein:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for SPON1 - Now 50% OFF >
  • * SPON1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * SPON1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for SPON1 Gene

No ASD Table

Relevant External Links for SPON1 Gene

GeneLoc Exon Structure for
SPON1
ECgene alternative splicing isoforms for
SPON1

Expression for SPON1 Gene

Products:

  1. Primer
  2. Gene Expression Assay
GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SPON1 Gene

mRNA expression in normal human tissues for SPON1 Gene
mRNA expression by GTEx for SPON1 GenemRNA expression by BioGPS for SPON1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SPON1 Gene

This gene is overexpressed in Vitreous humor (33.9) and Heart (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SPON1 Gene



NURSA nuclear receptor signaling pathways regulating expression of SPON1 Gene:

SPON1

SOURCE GeneReport for Unigene cluster for SPON1 Gene:

Hs.643864

mRNA Expression by UniProt/SwissProt for SPON1 Gene:

Q9HCB6-SPON1_HUMAN
Tissue specificity: Highest expression in lung, lower expression in brain, heart, kidney, liver and testis, and lowest expression in pancreas, skeletal muscle and ovary. Not expressed in spleen.
genes like me logo Genes that share expression patterns with SPON1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SPON1 Gene

Orthologs for SPON1 Gene

This gene was present in the common ancestor of animals.

Orthologs for SPON1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia SPON1 34
  • 99.63 (n)
dog
(Canis familiaris)
 Mammalia SPON1 34
  • 92.81 (n)
cow
(Bos Taurus)
 Mammalia SPON1 34
  • 92.61 (n)
mouse
(Mus musculus)
 Mammalia Spon1 17 34
  • 89.63 (n)
rat
(Rattus norvegicus)
 Mammalia Spon1 34
  • 89.43 (n)
chicken
(Gallus gallus)
 Aves SPON1 34
  • 78.56 (n)
tropical clawed frog
(Silurana tropicalis)
 Amphibia spon1 34
  • 77.15 (n)
African clawed frog
(Xenopus laevis)
 Amphibia spon1-A 34
zebrafish
(Danio rerio)
 Actinopterygii spon1a 34 34
  • 70.79 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG17739 36 34
  • 48.49 (n)
fat-spondin 36
  • 32 (a)
CG30046 36
  • 31 (a)
CG30203 36
  • 31 (a)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP012307 34
  • 42.77 (n)
worm
(Caenorhabditis elegans)
 Secernentea F10E7.4 36
  • 27 (a)
Species where no ortholog for SPON1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 SPON1 Gene

ENSEMBL:
Gene Tree for SPON1 (if available)
TreeFam:
Gene Tree for SPON1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SPON1: view image

Paralogs for SPON1 Gene

Paralogs for SPON1 Gene

genes like me logo Genes that share paralogs with SPON1: view

Variants for SPON1 Gene

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  1. SNP Genotyping and Copy Number Assay
VarElect - NGS phenotyper. Rapid prioritization of variants from NGS data powered by 100+ GeneCards sources

Sequence variations from dbSNP and Humsavar for SPON1 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000002516 -- 14,007,656(+) A/G intron_variant
rs1000004728 -- 14,138,992(+) A/G intron_variant
rs1000041105 -- 14,188,281(+) G/T intron_variant
rs1000042459 -- 13,963,272(+) C/A intron_variant
rs1000045510 -- 14,227,844(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SPON1 Gene

Variant ID Type Subtype PubMed ID
dgv324e212 CNV loss 25503493
esv1173943 CNV deletion 17803354
esv1763444 CNV insertion 17803354
esv2597158 CNV deletion 19546169
esv2668036 CNV deletion 23128226
esv29123 CNV loss 19812545
esv3625418 CNV loss 21293372
nsv1070011 CNV deletion 25765185
nsv1070434 CNV deletion 25765185
nsv478941 CNV novel sequence insertion 20440878
nsv951310 CNV deletion 24416366

Additional Variant Information for SPON1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPON1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for SPON1 Gene

Disorders for SPON1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for SPON1 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search SPON1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SPON1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SPON1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SPON1 Gene

Publications for SPON1 Gene

  1. The crystal structure of the heparin-binding reelin-N domain of f-spondin. (PMID: 18602404) Tan K … Wang JH (Journal of molecular biology 2008) 3 4 23 58
  2. Isolation and characterization of vascular smooth muscle cell growth promoting factor from bovine ovarian follicular fluid and its cDNA cloning from bovine and human ovary. (PMID: 11368520) Miyamoto K … Minegishi T (Archives of biochemistry and biophysics 2001) 3 4 23 58
  3. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9872452) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 58
  4. A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network. (PMID: 22228203) Aslibekyan S … Arnett DK (Pharmacogenetics and genomics 2012) 3 45 58
  5. The structure of the Ca²+-binding, glycosylated F-spondin domain of F-spondin - A C2-domain variant in an extracellular matrix protein. (PMID: 21569239) Tan K … Lawler J (BMC structural biology 2011) 3 4 58

ExternalLinks

View latest publications for SPON1 gene in Mastermind

Products for SPON1 Gene

Sources for SPON1 Gene

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