Reviewed, UniProtKB/Swiss-Prot Q9BXN1 (ASPN_HUMAN)

Names and origin

Protein names

Recommended name:
    Asporin
Alternative name(s):
    Periodontal ligament-associated protein 1
      Short name=PLAP-1

Gene names

Name:	ASPN
Synonyms:	PLAP1, SLRR1C
ORF Names:	UNQ215/PRO241

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	380 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

General annotation (Comments)

Subcellular location	Secreted › extracellular space › extracellular matrix.
Tissue specificity	Higher levels in osteoarthritic articular cartilage, aorta, uterus. Moderate expression in small intestine, heart, liver, bladder, ovary, stomach, and in the adrenal, thyroid, and mammary glands. Low expression in trachea, bone marrow, and lung.
Post-translational modification	There is no serine/glycine dipeptide sequence expected for the attachment of O-linked glycosaminoglycans and this is probably not a proteoglycan. The O-linked polysaccharide on 54-Ser is probably the mucin type linked to GalNAc. The N-linked glycan at Asn-282 is composed of variable structures of GlcNAc, mannose, fucose, HexNAc and hexose.
Polymorphism	The poly-Asp region of ASPN is polymorphic and ranges at least from 11 to 17 Asp.
Involvement in disease	Variation in the poly-Asp region of ASPN is associated with osteoarthritis susceptibility type 3 (OS3) [MIM:607850]; also known as osteoarthritis of knee/hip. Osteoarthritis is a common disease that produces joint pain and stiffness together with radiologic evidence of progressive degeneration of joint cartilage. ASPN allele having 14 aspartic acid repeats in the N-terminal region of the protein (D14), is overrepresented relative to the common allele having 13 aspartic acid repeats (D13). The frequency of the D14 allele increases with disease severity. The D14 allele is also overrepresented in individuals with hip osteoarthritis. Ref.8
Sequence similarities	Belongs to the small leucine-rich proteoglycan (SLRP) family. Class I subfamily. Contains 12 LRR (leucine-rich) repeats.

Ontologies

Keywords
Cellular component	Extracellular matrix Secreted
Coding sequence diversity	Polymorphism Triplet repeat expansion
Domain	Leucine-rich repeat Repeat Signal
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Direct protein sequencing
Gene Ontology (GO)
Cellular component	proteinaceous extracellular matrix Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	protein binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 14	14	Potential
	Propeptide	15 – 32	18	Potential		PRO_0000032727
	Chain	33 – 380	348	Asporin		PRO_0000032728
Regions
	Repeat	96 – 116	21	LRR-S 1
	Repeat	117 – 140	24	LRR-T 1
	Repeat	141 – 164	24	LRR-T 2
	Repeat	165 – 185	21	LRR-S 2
	Repeat	186 – 209	24	LRR-T 3
	Repeat	210 – 234	25	LRR-T 4
	Repeat	235 – 255	21	LRR-S 3
	Repeat	256 – 279	24	LRR-T 5
	Repeat	280 – 303	24	LRR-T 6
	Repeat	304 – 326	23	LRR-S 4
	Repeat	327 – 356	30	LRR-T 7
	Repeat	357 – 380	24	LRR-T 8
	Compositional bias	35 – 53	19	Poly-Asp
	Compositional bias	77 – 90	14	Cys-rich
Amino acid modifications
	Glycosylation	55	1	O-linked (GalNAc...) Probable
	Glycosylation	282	1	N-linked (GlcNAc...) Ref.1 Ref.9
	Disulfide bond	333 ↔ 366		By similarity
Experimental info
	Sequence conflict	238 – 243	6	GLPPTL → DNLPSF in BAB55060. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q9BXN1-1 [UniParc]. Last modified October 14, 2008. Version 2. Checksum: 2746A977FDCEBA5F	FASTA	380	43,417
	10 20 30 40 50 60 MKEYVLLLFL ALCSAKPFFS PSHIALKNMM LKDMEDTDDD DDDDDDDDDD DEDNSLFPTR 70 80 90 100 110 120 EPRSHFFPFD LFPMCPFGCQ CYSRVVHCSD LGLTSVPTNI PFDTRMLDLQ NNKIKEIKEN 130 140 150 160 170 180 DFKGLTSLYG LILNNNKLTK IHPKAFLTTK KLRRLYLSHN QLSEIPLNLP KSLAELRIHE 190 200 210 220 230 240 NKVKKIQKDT FKGMNALHVL EMSANPLDNN GIEPGAFEGV TVFHIRIAEA KLTSVPKGLP 250 260 270 280 290 300 PTLLELHLDY NKISTVELED FKRYKELQRL GLGNNKITDI ENGSLANIPR VREIHLENNK 310 320 330 340 350 360 LKKIPSGLPE LKYLQIIFLH SNSIARVGVN DFCPTVPKMK KSLYSAISLF NNPVKYWEMQ 370 380 PATFRCVLSR MSVQLGNFGM

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification and characterization of asporin. A novel member of the leucine-rich repeat protein family closely related to decorin and biglycan." Lorenzo P., Aspberg A., Oennerfjord P., Bayliss M.T., Neame P.J., Heinegaard D. J. Biol. Chem. 276:12201-12211(2001) [PubMed: 11152692] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], PARTIAL PROTEIN SEQUENCE, GLYCOSYLATION AT SER-55 AND ASN-282, MASS SPECTROMETRY, POLYMORPHISM OF POLY-ASP REGION. Tissue: Cartilage.
[2]	"Expression profile of active genes in human periodontal ligament and isolation of PLAP-1, a novel SLRP family gene." Yamada S., Murakami S., Matoba R., Ozawa Y., Yokokoji T., Nakahira Y., Ikezawa K., Takayama S., Matsubara K., Okada H. Gene 275:279-286(2001) [PubMed: 11587855] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Colon and Embryo.
[4]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed: 12975309] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[5]	"DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I. Nature 429:369-374(2004) [PubMed: 15164053] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	"Expression pattern and gene characterization of asporin. A newly discovered member of the leucine-rich repeat protein family." Henry S.P., Takanosu M., Boyd T.C., Mayne P.M., Eberspaecher H., Zhou W., de Crombrugghe B., Hoeoek M., Mayne R. J. Biol. Chem. 276:12212-12221(2001) [PubMed: 11152695] [Abstract] Cited for: PARTIAL NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Heart.
[8]	"An aspartic acid repeat polymorphism in asporin inhibits chondrogenesis and increases susceptibility to osteoarthritis." Kizawa H., Kou I., Iida A., Sudo A., Miyamoto Y., Fukuda A., Mabuchi A., Kotani A., Kawakami A., Yamamoto S., Uchida A., Nakamura K., Notoya K., Nakamura Y., Ikegawa S. Nat. Genet. 37:138-144(2005) [PubMed: 15640800] [Abstract] Cited for: ASSOCIATION WITH OS3.
[9]	"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry." Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H. J. Proteome Res. 8:651-661(2009) [PubMed: 19159218] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-282, MASS SPECTROMETRY. Tissue: Liver.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF316824 mRNA. Translation: AAK35161.1. AY029191 mRNA. Translation: AAK31800.1. AK000136 mRNA. Translation: BAA90967.1. Different initiation. AK027359 mRNA. Translation: BAB55060.1. AY358329 mRNA. Translation: AAQ88695.1. AL137848 Genomic DNA. Translation: CAI16697.1. CH471089 Genomic DNA. Translation: EAW62822.1.
IPI	IPI00418431.
RefSeq	NP_060150.3.
UniGene	Hs.435655
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	Q9BXN1.
Proteomic databases
PRIDE	Q9BXN1.
Genome annotation databases
Ensembl	ENST00000375544; ENSP00000364694; ENSG00000106819; Homo sapiens. [Genome view]
GeneID	54829.
KEGG	hsa:54829.
Organism-specific databases
CTD	54829.
GeneCards	GC09M094258.
H-InvDB	HIX0008167.
HGNC	HGNC:14872. ASPN.
HPA	HPA008435. HPA024230.
MIM	607850. phenotype. 608135. gene.
PharmGKB	PA25057.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q9BXN1.
InParanoid	Q9BXN1.
OMA	LALCSAK.
Gene expression databases
ArrayExpress	Q9BXN1.
Bgee	Q9BXN1.
CleanEx	HS_ASPN.
Genevestigator	Q9BXN1.
GermOnline	ENSG00000106819. Homo sapiens.
Family and domain databases
InterPro	IPR001611. Leu-rich_rpt. IPR000372. Leu-rich_rpt_Cys-rich-dom_N. [Graphical view]
Pfam	PF00560. LRR_1. 4 hits. PF01462. LRRNT. 1 hit. [Graphical view]
SMART	SM00013. LRRNT. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	57604.
SOURCE	Search...

Entry information

Entry name

ASPN_HUMAN

Accession

Primary (citable) accession number: Q9BXN1
Secondary accession number(s): Q5TBF3 , Q96K79, Q96LD0, Q9NXP3

Entry history

Integrated into UniProtKB/Swiss-Prot:	June 20, 2002
Last sequence update:	October 14, 2008
Last modified:	December 15, 2009
This is version 88 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.