HAPLN1

HAPLN1
Identifiers
Aliases	HAPLN1, CRTL1, CRT1, hyaluronan and proteoglycan link protein 1
External IDs	OMIM: 115435; MGI: 1337006; HomoloGene: 1420; GeneCards: HAPLN1; OMA:HAPLN1 - orthologs
Gene location (Human)
Chr.	Chromosome 5 (human)
End	83,720,855 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	89,759,771 bp
RNA expression pattern
	Top expressed in
	tibia; ; cartilage tissue; ; placenta; ; testicle; ; endothelial cell; ; epithelium of colon; ; gonad; ; buccal mucosa cell; ; mucosa of sigmoid colon; ; jejunal mucosa;
	Top expressed in
	fossa; ; condyle; ; intercostal muscle; ; human fetus; ; tail of embryo; ; abdominal wall; ; endocardial cushion; ; genital tubercle; ; otic placode; ; semi-lunar valve;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	extracellular matrix structural constituent; hyaluronic acid binding; extracellular matrix structural constituent conferring compression resistance;
Cellular component	extracellular matrix; extracellular region; synapse; collagen-containing extracellular matrix;
Biological process	skeletal system development; extracellular matrix organization; central nervous system development; cell adhesion;
	Sources:Amigo / QuickGO
Orthologs
	1404
	12950
	ENSG00000145681
	ENSMUSG00000021613
	P10915
	Q9QUP5
	NM_001884
	NM_013500
	NP_001875
	NP_038528
	Wikidata
View/Edit Human	View/Edit Mouse

Hyaluronan and proteoglycan link protein 1 is a protein that in humans is encoded by the HAPLN1 gene.^[5]^[6]^[7]

Interactions

HAPLN1 has been shown to interact with Versican.^[8]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000145681 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000021613 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Osborne-Lawrence SL, Sinclair AK, Hicks RC, Lacey SW, Eddy RL, Byers MG, et al. (November 1990). "Complete amino acid sequence of human cartilage link protein (CRTL1) deduced from cDNA clones and chromosomal assignment of the gene". Genomics. 8 (3): 562–7. doi:10.1016/0888-7543(90)90044-U. PMID 2286376.
^ Dudhia J, Hardingham TE (March 1990). "The primary structure of human cartilage link protein". Nucleic Acids Research. 18 (5): 1292. doi:10.1093/nar/18.5.1292. PMC 330454. PMID 2320422.
^ "Entrez Gene: HAPLN1 hyaluronan and proteoglycan link protein 1".
^ Matsumoto K, Shionyu M, Go M, Shimizu K, Shinomura T, Kimata K, Watanabe H (October 2003). "Distinct interaction of versican/PG-M with hyaluronan and link protein". The Journal of Biological Chemistry. 278 (42): 41205–12. doi:10.1074/jbc.M305060200. PMID 12888576.

Doege K, Hassell JR, Caterson B, Yamada Y (June 1986). "Link protein cDNA sequence reveals a tandemly repeated protein structure". Proceedings of the National Academy of Sciences of the United States of America. 83 (11): 3761–5. Bibcode:1986PNAS...83.3761D. doi:10.1073/pnas.83.11.3761. PMC 323603. PMID 3459153.
Rhodes C, Doege K, Sasaki M, Yamada Y (May 1988). "Alternative splicing generates two different mRNA species for rat link protein". The Journal of Biological Chemistry. 263 (13): 6063–7. doi:10.1016/S0021-9258(18)68749-6. PMID 2452158.
Mundlos S, Meyer R, Yamada Y, Zabel B (November 1991). "Distribution of cartilage proteoglycan (aggrecan) core protein and link protein gene expression during human skeletal development". Matrix. 11 (5): 339–46. doi:10.1016/s0934-8832(11)80205-2. PMID 1725805.
Rhodes C, Savagner P, Line S, Sasaki M, Chirigos M, Doege K, Yamada Y (April 1991). "Characterization of the promoter for the rat and human link protein gene". Nucleic Acids Research. 19 (8): 1933–9. doi:10.1093/nar/19.8.1933. PMC 328126. PMID 2030970.
Dudhia J, Hardingham TE (April 1990). "The primary structure of human cartilage link protein". Nucleic Acids Research. 18 (8): 2214. doi:10.1093/nar/18.8.2214. PMC 330736. PMID 2336413.
Perkins SJ, Nealis AS, Dudhia J, Hardingham TE (April 1989). "Immunoglobulin fold and tandem repeat structures in proteoglycan N-terminal domains and link protein". Journal of Molecular Biology. 206 (4): 737–53. doi:10.1016/0022-2836(89)90580-9. PMID 2738916.
Nguyen Q, Murphy G, Hughes CE, Mort JS, Roughley PJ (October 1993). "Matrix metalloproteinases cleave at two distinct sites on human cartilage link protein". The Biochemical Journal. 295. 295 ( Pt 2) (2): 595–8. doi:10.1042/bj2950595. PMC 1134922. PMID 7694569.
Dudhia J, Bayliss MT, Hardingham TE (October 1994). "Human link protein gene: structure and transcription pattern in chondrocytes". The Biochemical Journal. 303. 303 ( Pt 1) (Pt 1): 329–33. doi:10.1042/bj3030329. PMC 1137594. PMID 7945259.
Rhodes C, Yamada Y (June 1995). "Characterization of a glucocorticoid responsive element and identification of an AT-rich element that regulate the link protein gene". Nucleic Acids Research. 23 (12): 2305–13. doi:10.1093/nar/23.12.2305. PMC 307022. PMID 7610060.
Guerassimov A, Zhang Y, Banerjee S, Cartman A, Webber C, Esdaile J, et al. (August 1998). "Autoimmunity to cartilage link protein in patients with rheumatoid arthritis and ankylosing spondylitis". The Journal of Rheumatology. 25 (8): 1480–4. PMID 9712087.
Perveen R, Hart-Holden N, Dixon MJ, Wiszniewski W, Fryer AE, Brunner HG, et al. (April 1999). "Refined genetic and physical localization of the Wagner disease (WGN1) locus and the genes CRTL1 and CSPG2 to a 2- to 2.5-cM region of chromosome 5q14.3". Genomics. 57 (2): 219–26. doi:10.1006/geno.1999.5766. PMID 10198161.
Hirakawa S, Oohashi T, Su WD, Yoshioka H, Murakami T, Arata J, Ninomiya Y (October 2000). "The brain link protein-1 (BRAL1): cDNA cloning, genomic structure, and characterization as a novel link protein expressed in adult brain". Biochemical and Biophysical Research Communications. 276 (3): 982–9. doi:10.1006/bbrc.2000.3583. PMID 11027579.
Pokharna HK, Pottenger LA (November 2000). "Glycation induced crosslinking of link proteins, in vivo and in vitro". The Journal of Surgical Research. 94 (1): 35–42. doi:10.1006/jsre.2000.6000. PMID 11038300.
Milz S, Schlüter T, Putz R, Moriggl B, Ralphs JR, Benjamin M (August 2001). "Fibrocartilage in the transverse ligament of the human atlas". Spine. 26 (16): 1765–71. doi:10.1097/00007632-200108150-00007. PMID 11493848. S2CID 25564902.
Sun GW, Kobayashi H, Suzuki M, Kanayama N, Terao T (November 2002). "Production of cartilage link protein by human granulosa-lutein cells". The Journal of Endocrinology. 175 (2): 505–15. CiteSeerX 10.1.1.321.4397. doi:10.1677/joe.0.1750505. PMID 12429048. S2CID 1722539.
Spicer AP, Joo A, Bowling RA (June 2003). "A hyaluronan binding link protein gene family whose members are physically linked adjacent to chondroitin sulfate proteoglycan core protein genes: the missing links". The Journal of Biological Chemistry. 278 (23): 21083–91. doi:10.1074/jbc.M213100200. PMID 12663660.
Matsumoto K, Shionyu M, Go M, Shimizu K, Shinomura T, Kimata K, Watanabe H (October 2003). "Distinct interaction of versican/PG-M with hyaluronan and link protein". The Journal of Biological Chemistry. 278 (42): 41205–12. doi:10.1074/jbc.M305060200. PMID 12888576.
Shi S, Grothe S, Zhang Y, O'Connor-McCourt MD, Poole AR, Roughley PJ, Mort JS (March 2004). "Link protein has greater affinity for versican than aggrecan". The Journal of Biological Chemistry. 279 (13): 12060–6. doi:10.1074/jbc.M310091200. PMID 14724283.
Kou I, Ikegawa S (December 2004). "SOX9-dependent and -independent transcriptional regulation of human cartilage link protein". The Journal of Biological Chemistry. 279 (49): 50942–8. doi:10.1074/jbc.M406786200. PMID 15456769.
Rhodes CS, Matsunobu T, Yamada Y (October 2019). "Analysis of a limb-specific regulatory element in the promoter of the link protein gene". Biochemical and Biophysical Research Communications. 518 (4): 672–677. doi:10.1016/j.bbrc.2019.08.104. PMC 10505274. PMID 31470976. S2CID 201731468.

This article on a gene on human chromosome 5 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000145681 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000021613 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid2286376-5] Osborne-Lawrence SL, Sinclair AK, Hicks RC, Lacey SW, Eddy RL, Byers MG, et al. (November 1990). "Complete amino acid sequence of human cartilage link protein (CRTL1) deduced from cDNA clones and chromosomal assignment of the gene". Genomics. 8 (3): 562–7. doi:10.1016/0888-7543(90)90044-U. PMID 2286376.

[pmid2320422-6] Dudhia J, Hardingham TE (March 1990). "The primary structure of human cartilage link protein". Nucleic Acids Research. 18 (5): 1292. doi:10.1093/nar/18.5.1292. PMC 330454. PMID 2320422.

[entrez-7] "Entrez Gene: HAPLN1 hyaluronan and proteoglycan link protein 1".

[pmid12888576-8] Matsumoto K, Shionyu M, Go M, Shimizu K, Shinomura T, Kimata K, Watanabe H (October 2003). "Distinct interaction of versican/PG-M with hyaluronan and link protein". The Journal of Biological Chemistry. 278 (42): 41205–12. doi:10.1074/jbc.M305060200. PMID 12888576.

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Interactions

References

Further reading