Angiopoietin-related protein 7

ANGPTL7
Identifiers
Aliases	ANGPTL7 , AngX, CDT6, dJ647M16.1, angiopoietin like 7
External IDs	OMIM: 618517; MGI: 3605801; HomoloGene: 133923; GeneCards: ANGPTL7; OMA:ANGPTL7 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) [1] Band 1p36.22 Start 11,189,355 bp [1] End 11,195,981 bp [1]
Gene location (Mouse) Chr. Chromosome 4 (mouse) [2] Band 4|4 E2 Start 148,579,640 bp [2] End 148,584,917 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon tibial nerve sural nerve tendon of biceps brachii hair follicle synovial joint spinal ganglia Descending thoracic aorta testicle ascending aorta Top expressed in ankle skin of external ear lip muscle of thigh aortic valve interventricular septum medial head of gastrocnemius muscle right kidney uterus sciatic nerve More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding Cellular component extracellular region Biological process response to oxidative stress Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10218 654812 Ensembl ENSG00000171819 ENSMUSG00000028989 UniProt O43827 Q8R1Q3 RefSeq (mRNA) NM_021146 NM_001039554 RefSeq (protein) NP_066969 NP_001034643 Location (UCSC) Chr 1: 11.19 – 11.2 Mb Chr 4: 148.58 – 148.58 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Angiopoietin-related protein 7 is a protein that in humans is encoded by the ANGPTL7 gene. ^{[5] [6] [7]}

It is one of the 8 angiopoietin-like proteins. ^[8]

Rare protein-altering variants in ANGPTL7, including p.Gln175His (0.007 minor allele frequency in Non-Finnish European population) and p.R220C (0.048 minor allele frequency in Finland), lower intraocular pressure and protect against glaucoma. ^[9]

References

1. GRCh38: Ensembl release 89: ENSG00000171819 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000028989 – 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. Peek R, van Gelderen BE, Bruinenberg M, Kijlstra A (Sep 1998). "Molecular cloning of a new angiopoietinlike factor from the human cornea". Invest Ophthalmol Vis Sci. 39 (10): 1782–8. PMID   9727400.
6. Peek R, Kammerer RA, Frank S, Otte-Holler I, Westphal JR (Jan 2002). "The angiopoietin-like factor cornea-derived transcript 6 is a putative morphogen for human cornea". J Biol Chem. 277 (1): 686–93. doi: 10.1074/jbc.M105746200 . hdl: 2066/121088 . PMID   11682471.
7. "Entrez Gene: ANGPTL7 angiopoietin-like 7".
8. Angiopoietin-like proteins: a comprehensive look
9. Tanigawa Y, Wainberg M, Karjalainen J, Kiiskinen T, Venkataraman G, Lemmelä S, Turunen JA, Graham RR, Havulinna AS, Perola M, Palotie A, Daly MJ, Rivas MA (5 May 2020). "Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma". PLOS Genetics. 16 (5): e1008682. doi: 10.1371/journal.pgen.1008682 . PMC   7199928 . PMID   32369491.

Further reading

• Shau H, Butterfield LH, Chiu R, Kim A (1994). "Cloning and sequence analysis of candidate human natural killer-enhancing factor genes". Immunogenetics. 40 (2): 129–34. doi:10.1007/BF00188176. PMID   8026862. S2CID   7778993.
• Lim YS, Cha MK, Kim HK, Kim IH (1994). "The thiol-specific antioxidant protein from human brain: gene cloning and analysis of conserved cysteine regions". Gene. 140 (2): 279–84. doi:10.1016/0378-1119(94)90558-4. PMID   8144038.
• Stover C, Endo Y, Takahashi M, et al. (2001). "The human gene for mannan-binding lectin-associated serine protease-2 (MASP-2), the effector component of the lectin route of complement activation, is part of a tightly linked gene cluster on chromosome 1p36.2-3". Genes Immun. 2 (3): 119–27. doi:10.1038/sj.gene.6363745. PMID   11426320. S2CID   23496123.
• Zhang Z, Henzel WJ (2005). "Signal peptide prediction based on analysis of experimentally verified cleavage sites". Protein Sci. 13 (10): 2819–24. doi:10.1110/ps.04682504. PMC   2286551 . PMID   15340161.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.

External links

• ANGPTL7 human gene location in the UCSC Genome Browser .
• ANGPTL7 human gene details in the UCSC Genome Browser .