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) [1] Band 5q14.3 Start 83,637,805 bp [1] End 83,720,855 bp [1]
Gene location (Mouse) Chr. Chromosome 13 (mouse) [2] Band 13 C3|13 45.5 cM Start 89,687,915 bp [2] End 89,759,771 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 1404 12950 Ensembl ENSG00000145681 ENSMUSG00000021613 UniProt P10915 Q9QUP5 RefSeq (mRNA) NM_001884 NM_013500 RefSeq (protein) NP_001875 NP_038528 Location (UCSC) Chr 5: 83.64 – 83.72 Mb Chr 13: 89.69 – 89.76 Mb PubMed search [3] [4]
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

1. GRCh38: Ensembl release 89: ENSG00000145681 – Ensembl, May 2017
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.
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.
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.
7. "Entrez Gene: HAPLN1 hyaluronan and proteoglycan link protein 1".
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.

Further reading

• 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.