SPON1 spondin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPON1provided by HGNC
Official Full Name: spondin 1provided by HGNC
Primary source: HGNC:HGNC:11252
See related: Ensembl:ENSG00000262655 MIM:604989; AllianceGenome:HGNC:11252
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: f-spondin; VSGP/F-spondin
Summary: Predicted to enable LBD domain binding activity and metal ion binding activity. Predicted to be an extracellular matrix structural constituent. Predicted to be involved in cell adhesion. Predicted to act upstream of or within negative regulation of amyloid-beta formation; positive regulation of amyloid precursor protein catabolic process; and positive regulation of protein processing. Located in collagen-containing extracellular matrix and extracellular space. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in gall bladder (RPKM 73.6), urinary bladder (RPKM 33.9) and 16 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p15.2

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (13962723..14268133)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (14055316..14360665)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (13984270..14289679)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SPON1 is an independent prognostic biomarker for ovarian cancer.
Title: SPON1 is an independent prognostic biomarker for ovarian cancer.
Increased SPON1 promotes pancreatic ductal adenocarcinoma progression by enhancing IL-6 trans-signalling.
Title: Increased SPON1 promotes pancreatic ductal adenocarcinoma progression by enhancing IL-6 trans-signalling.
Prognostic and Diagnostic Values of miR-506 and SPON 1 in Colorectal Cancer with Clinicopathological Considerations.
Title: Prognostic and Diagnostic Values of miR-506 and SPON 1 in Colorectal Cancer with Clinicopathological Considerations.
Evaluation of relationship between SPON1 gene and genetic susceptibility of postmenopausal osteoporosis.
Title: Evaluation of relationship between SPON1 gene and genetic susceptibility of postmenopausal osteoporosis.
SPON1 rs2618516 polymorphism moderated the effects of APOE on working memory in terms of both in behaviors and in the level of brain activations.
Title: APOE influences working memory in non-demented elderly through an interaction with SPON1 rs2618516.
gene expression experiment revealed that CYP2B6, SPON1, and GSG1L can be activated concomitantly through a constitutive androstane receptor (CAR) activation pathway
Title: Genome-Wide Pharmacogenomic Study on Methadone Maintenance Treatment Identifies SNP rs17180299 and Multiple Haplotypes on CYP2B6, SPON1, and GSG1L Associated with Plasma Concentrations of Methadone R- and S-enantiomers in Heroin-Dependent Patients.
SPON1 promotes metastatic progression through Fak and Src dependent pathway in human osteosarcoma.
Title: Spondin 1 promotes metastatic progression through Fak and Src dependent pathway in human osteosarcoma.
These data suggest that SPON1 may be associated with the differential rate of cognitive decline in Alzheimer disease.
Title: Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
High SPON1 expression is associated with high-grade gliomas.
Title: Experimental validation of 5 in-silico predicted glioma biomarkers.
Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity
Title: Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of ancestry-specific TB risk in the South African Coloured population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vif	vif	HIV-1 Vif downregulates the expression of spondin 1 (SPON1, extracellular matrix protein) in Vif-expression T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-13844 (e-PCR)
- UniSTS:325

G20587 (e-PCR)
- UniSTS:61781

D11S2037 (e-PCR)
- UniSTS:75094

A005Y02 (e-PCR)
- UniSTS:61782

SPON1__5298 (e-PCR)
- UniSTS:464560

WI-11904 (e-PCR)
- UniSTS:77495

D11S1307 (e-PCR), detects polymorphism
- UniSTS:82627

RH77989 (e-PCR)
- UniSTS:11722

RH36458 (e-PCR)
- UniSTS:8398

WI-18553 (e-PCR)
- UniSTS:63713

HSCZTB102 (e-PCR)
- UniSTS:63714

D11S2338 (e-PCR)
- UniSTS:44771

D11S1307 (e-PCR), detects polymorphism
- UniSTS:74983

SHGC-78889 (e-PCR)
- UniSTS:95727

SHGC-79809 (e-PCR)
- UniSTS:101105

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables LBD domain binding	IEA Inferred from Electronic Annotation more info
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of amyloid-beta formation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of amyloid precursor protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein processing	IEA Inferred from Electronic Annotation more info
involved_in protein processing	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
is_active_in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	HDA more info	PubMed

General protein information

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Preferred Names: spondin-1

Names: spondin 1, (f-spondin) extracellular matrix protein; spondin 1, extracellular matrix protein; vascular smooth muscle cell growth-promoting factor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_006108.4 → NP_006099.2 spondin-1 precursor

See identical proteins and their annotated locations for NP_006099.2

Status: VALIDATED

Source sequence(s)

AB018305, AK291780, BQ026865

Consensus CDS

CCDS73262.1

UniProtKB/Swiss-Prot

A8K6W5, O94862, Q8NCD7, Q8WUR5, Q9HCB6

Related

ENSP00000460236.1, ENST00000576479.4

Conserved Domains (4) summary

cd08544
Location:43 → 182

Reeler; the N-terminal domain of reelin, F-spondin, and a variety of other proteins

pfam00090
Location:562 → 610

TSP_1; Thrombospondin type 1 domain

pfam06468
Location:205 → 392

Spond_N; Spondin_N

pfam19028
Location:669 → 720

TSP1_spondin; Spondin-like TSP1 domain