ASPN asporin [Homo sapiens (human)] - Gene

Summary

Official Symbol: ASPNprovided by HGNC
Official Full Name: asporinprovided by HGNC
Primary source: HGNC:HGNC:14872
See related: Ensembl:ENSG00000106819 MIM:608135; AllianceGenome:HGNC:14872
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OS3; PLAP1; PLAP-1; SLRR1C
Summary: This gene encodes a cartilage extracellular protein that is member of the small leucine-rich proteoglycan family. The encoded protein may regulate chondrogenesis by inhibiting transforming growth factor-beta 1-induced gene expression in cartilage. This protein also binds collagen and calcium and may induce collagen mineralization. Polymorphisms in the aspartic acid repeat region of this gene are associated with a susceptibility to osteoarthritis, and also with intervertebral disc disease. Alternative splicing of this gene results in multiple transcript variants.[provided by RefSeq, Jul 2014]
Annotation information: Annotation category: suggests misassembly
Expression: Broad expression in gall bladder (RPKM 43.4), endometrium (RPKM 40.7) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q22.31

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (92456205..92482506, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (104622707..104649005, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (95218487..95244788, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Gingival crevicular fluid periodontal ligament-associated protein-1, sclerostin, and tumor necrosis factor-alpha levels in periodontitis.
Title: Gingival crevicular fluid periodontal ligament-associated protein-1, sclerostin, and tumor necrosis factor-alpha levels in periodontitis.
MicroRNA-631 Resensitizes Doxorubicin-Resistant Chondrosarcoma Cells by Targeting Apelin.
Title: MicroRNA-631 Resensitizes Doxorubicin-Resistant Chondrosarcoma Cells by Targeting Apelin.
Asporin Promotes TGF-beta-induced Lung Myofibroblast Differentiation by Facilitating Rab11-Dependent Recycling of TbetaRI.
Title: Asporin Promotes TGF-β-induced Lung Myofibroblast Differentiation by Facilitating Rab11-Dependent Recycling of TβRI.
Frequency of Growth Differentiation Factor 5 rs143383 and asporin D-repeat polymorphisms in patients with hand and knee osteoarthritis in Kurdistan province, Iran.
Title: Frequency of Growth Differentiation Factor 5 rs143383 and asporin D-repeat polymorphisms in patients with hand and knee osteoarthritis in Kurdistan province, Iran.
Cancer-related gene mutations of ASPN in colon cancers.
Title: Cancer-related gene mutations of ASPN in colon cancers.
LncRNA DCST1-AS1 inhibits PDLCs' proliferation in periodontitis and may bind with miR-21 precursor to upregulate PLAP-1.
Title: LncRNA DCST1-AS1 inhibits PDLCs' proliferation in periodontitis and may bind with miR-21 precursor to upregulate PLAP-1.
Expression of asporin reprograms cancer cells to acquire resistance to oxidative stress.
Title: Expression of asporin reprograms cancer cells to acquire resistance to oxidative stress.
Asporin is a Potential Promising Biomarker for Common Heart Failure.
Title: Asporin is a Potential Promising Biomarker for Common Heart Failure.
Data establish a role for ASPN as a critical MSC factor that extensively affects the tumor microenvironment and induces metastatic progression.
Title: Asporin Restricts Mesenchymal Stromal Cell Differentiation, Alters the Tumor Microenvironment, and Drives Metastatic Progression.
The allelic alteration on ASPN and COMP genes is linked to a role in the development of knee osteoarthritis.
Title: Identifying the role of ASPN and COMP genes in knee osteoarthritis development.

Submit: New GeneRIF Correction See all GeneRIFs (58)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Intervertebral disc disorder MedGen: C0158252 OMIM: 603932 GeneReviews: Not available	not available
Osteoarthritis susceptibility 3 MedGen: C2675609 OMIM: 607850 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH36006 (e-PCR)
- UniSTS:17426

SHGC-35056 (e-PCR)
- UniSTS:80718

SHGC-106025 (e-PCR)
- UniSTS:169597

STS-H75800 (e-PCR)
- UniSTS:40332

D9S2074 (e-PCR)
- UniSTS:71053

D9S2071 (e-PCR)
- UniSTS:66511

RH119473 (e-PCR)
- UniSTS:138194

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables extracellular matrix structural constituent conferring compression resistance	RCA inferred from Reviewed Computational Analysis more info	PubMed

Process	Evidence Code	Pubs
involved_in bone mineralization	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of tooth mineralization	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in response to fluoride	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: asporin

Names: asporin (LRR class 1); asporin proteoglycan; periodontal ligament associated protein 1; small leucine-rich protein 1C

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.

Genomic

NG_023430.2 RefSeqGene

Range

5001..31299

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001193335.3 → NP_001180264.1 asporin isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2), which represents the D13 allele, lacks two alternate exons that result in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (2) has a distinct and shorter C-terminus, compared to isoform 1.

Source sequence(s)

NTIA01000042

UniProtKB/TrEMBL

B4E2Z7, Q5TBF2

Related

ENSP00000364693.1, ENST00000375543.2

Conserved Domains (4) summary

smart00013
Location:73 → 103

LRRNT; Leucine rich repeat N-terminal domain

sd00033
Location:83 → 102

LRR_RI; leucine-rich repeat [structural motif]

pfam12799
Location:125 → 165

LRR_4; Leucine Rich repeats (2 copies)

pfam13855
Location:104 → 161

LRR_8; Leucine rich repeat
NM_017680.6 → NP_060150.4 asporin isoform 1 preproprotein

See identical proteins and their annotated locations for NP_060150.4

Status: REVIEWED

Description

Transcript Variant: This variant (1), which represents the D13 allele, is the longer transcript and encodes the longer isoform (1).

Source sequence(s)

NTIA01000042

UniProtKB/Swiss-Prot

Q5TBF3, Q96K79, Q96LD0, Q9BXN1, Q9NXP3

UniProtKB/TrEMBL

A0AAG2UW46

Related

ENSP00000364694.3, ENST00000375544.7

Conserved Domains (4) summary

smart00013
Location:73 → 103

LRRNT; Leucine rich repeat N-terminal domain

cd00116
Location:142 → 339

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

sd00033
Location:83 → 102

LRR_RI; leucine-rich repeat [structural motif]

pfam13855
Location:104 → 161

LRR_8; Leucine rich repeat