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SPON1 spondin 1 [ Homo sapiens (human) ]

Gene ID: 10418, updated on 6-Sep-2022

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 be an extracellular matrix structural constituent. Predicted to be involved in cell adhesion. Predicted to act upstream of or within positive regulation of protein binding activity; positive regulation of protein processing; and regulation of amyloid precursor protein catabolic process. Located in extracellular space. Colocalizes with collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in gall bladder (RPKM 73.6), urinary bladder (RPKM 33.9) and 16 other tissues See more
Orthologs
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Genomic context

See SPON1 in Genome Data Viewer
Location:
11p15.2
Exon count:
16
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (13962723..14268133)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (14055316..14360665)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (13984270..14289679)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 331 Neighboring gene long intergenic non-protein coding RNA 2683 Neighboring gene uncharacterized LOC124902637 Neighboring gene RNA, 5S ribosomal pseudogene 332 Neighboring gene RAS related 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:14443710-14444362

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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
Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.
EBI GWAS Catalog
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
EBI GWAS Catalog
Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity.
EBI GWAS Catalog

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0762, MGC10724

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 ISS
Inferred from Sequence or Structural Similarity
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
PubMed 
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 binding 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
 

General protein information

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)

  1. NM_006108.4NP_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
    Q8WUR5, Q9HCB6
    Related
    ENSP00000460236.1, ENST00000576479.4
    Conserved Domains (4) summary
    cd08544
    Location:43182
    Reeler; the N-terminal domain of reelin, F-spondin, and a variety of other proteins
    pfam00090
    Location:562610
    TSP_1; Thrombospondin type 1 domain
    pfam06468
    Location:205392
    Spond_N; Spondin_N
    pfam19028
    Location:669720
    TSP1_spondin; Spondin-like TSP1 domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    13962723..14268133
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    14055316..14360665
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)