Chordin-like 1

CHRDL1
Identifiers
AliasesCHRDL1, chordin-like 1, CHL, MGC1, MGCN, NRLN1, VOPT, dA141H5.1, chordin like 1
External IDsMGI: 1933172 HomoloGene: 12834 GeneCards: CHRDL1
Gene location (Human)
Chr.X chromosome (human)[1]
BandXq23Start110,673,856 bp[1]
End110,795,819 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

91851

83453

Ensembl

ENSG00000101938

ENSMUSG00000031283

UniProt

Q9BU40

Q920C1

RefSeq (mRNA)

NM_001143981
NM_001143982
NM_001143983
NM_145234

NM_001114385
NM_031258
NM_001358592

RefSeq (protein)

NP_001137453
NP_001137454
NP_001137455
NP_660277

NP_001107857
NP_112548
NP_001345521

Location (UCSC)Chr X: 110.67 – 110.8 MbChr X: 143.29 – 143.39 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Chordin-like 1 is a protein that in humans is encoded by the CHRDL1 gene.[5]

Function

This gene encodes an antagonist of bone morphogenetic protein 4. The encoded protein may play a role in topographic retinotectal projection and in the regulation of retinal angiogenesis in response to hypoxia. Alternatively spliced transcript variants encoding different isoforms have been described.[5]

Clinical significance

Mutations in CHRDL1 are associated to Neuhäuser Syndrome , X-linked megalocornea and central corneal thickness .[6]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000101938 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000031283 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. 1 2 "Entrez Gene: Chordin-like 1". Retrieved 2014-08-06.
  6. ↑ Davidson AE, Cheong SS, Hysi PG, Venturini C, Plagnol V, Ruddle JB, Ali H, Carnt N, Gardner JC, Hassan H, Gade E, Kearns L, Jelsig AM, Restori M, Webb TR, Laws D, Cosgrove M, Hertz JM, Russell-Eggitt I, Pilz DT, Hammond CJ, Tuft SJ, Hardcastle AJ (2014). "Association of CHRDL1 Mutations and Variants with X-linked Megalocornea, Neuhäuser Syndrome and Central Corneal Thickness". PLoS ONE. 9 (8): e104163. doi:10.1371/journal.pone.0104163. PMC 4122416. PMID 25093588.

Further reading

  • Sakuta H; Suzuki R; Takahashi H; Kato A; Shintani T; Iemura Si; Yamamoto TS; Ueno N; Noda M (July 2001). "Ventroptin: a BMP-4 antagonist expressed in a double-gradient pattern in the retina". Science. 293 (5527): 111–5. doi:10.1126/science.1058379. PMID 11441185.
  • Webb TR, Matarin M, Gardner JC, Kelberman D, Hassan H, Ang W, Michaelides M, Ruddle JB, Pennell CE, Yazar S, Khor CC, Aung T, Yogarajah M, Robson AG, Holder GE, Cheetham ME, Traboulsi EI, Moore AT, Sowden JC, Sisodiya SM, Mackey DA, Tuft SJ, Hardcastle AJ (2012). "X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development". Am. J. Hum. Genet. 90 (2): 247–59. doi:10.1016/j.ajhg.2011.12.019. PMC 3276677. PMID 22284829.
  • Kane R, Godson C, O'Brien C (2008). "Chordin-like 1, a bone morphogenetic protein-4 antagonist, is upregulated by hypoxia in human retinal pericytes and plays a role in regulating angiogenesis". Mol. Vis. 14: 1138–48. PMC 2435163. PMID 18587495.
  • Fernandes H, Dechering K, van Someren E, Steeghs I, Apotheker M, Mentink A, van Blitterswijk C, de Boer J (2010). "Effect of chordin-like 1 on MC3T3-E1 and human mesenchymal stem cells". Cells Tissues Organs (Print). 191 (6): 443–52. doi:10.1159/000281825. PMID 20130390.
  • "A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease". Nature Genetics. 43 (4): 339–344. 2011. doi:10.1038/ng.782. PMC 3190399. PMID 21378988.
  • Larman BW, Karolak MJ, Adams DC, Oxburgh L (2009). "Chordin-like 1 and twisted gastrulation 1 regulate BMP signaling following kidney injury". J. Am. Soc. Nephrol. 20 (5): 1020–31. doi:10.1681/ASN.2008070768. PMC 2678041. PMID 19357253.
  • Coffinier C, Tran U, Larraín J, De Robertis EM (2001). "Neuralin-1 is a novel Chordin-related molecule expressed in the mouse neural plate". Mech. Dev. 100 (1): 119–22. doi:10.1016/s0925-4773(00)00507-4. PMID 11118896.
  • Gazzerro E, Canalis E (2006). "Bone morphogenetic proteins and their antagonists". Rev Endocr Metab Disord. 7 (1–2): 51–65. doi:10.1007/s11154-006-9000-6. PMID 17029022.
  • Chen D, Zhao M, Mundy GR (2004). "Bone morphogenetic proteins". Growth Factors. 22 (4): 233–41. doi:10.1080/08977190412331279890. PMID 15621726.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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