ANGL7_HUMAN
ID ANGL7_HUMAN Reviewed; 346 AA.
AC O43827; B2R9B2; F1T0A6; Q4ZGK4;
DT 26-APR-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-1998, sequence version 1.
DT 03-AUG-2022, entry version 154.
DE RecName: Full=Angiopoietin-related protein 7;
DE AltName: Full=Angiopoietin-like factor;
DE AltName: Full=Angiopoietin-like protein 7;
DE AltName: Full=Cornea-derived transcript 6 protein;
DE Flags: Precursor;
GN Name=ANGPTL7; Synonyms=CDT6; ORFNames=UNQ313/PRO356;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
RC TISSUE=Cornea;
RX PubMed=9727400;
RA Peek R., van Gelderen B.E., Bruinenberg M., Kijlstra A.;
RT "Molecular cloning of a new angiopoietin-like factor from the human
RT cornea.";
RL Invest. Ophthalmol. Vis. Sci. 39:1782-1788(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=11426320; DOI=10.1038/sj.gene.6363745;
RA Stover C., Endo Y., Takahashi M., Lynch N., Constantinescu C.,
RA Vorup-Jensen T., Thiel S., Friedl H., Hankeln T., Hall R., Gregory S.,
RA Fujita T., Schwaeble W.;
RT "The human gene for mannan-binding lectin-associated serine protease-2
RT (MASP-2), the effector component of the lectin route of complement
RT activation, is part of a tightly linked gene cluster on chromosome 1p36.2-
RT 3.";
RL Genes Immun. 2:119-127(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
RL Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS ASP-51; HIS-140 AND
RP HIS-175.
RG NIEHS SNPs program;
RL Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Retinoblastoma;
RX PubMed=21697133; DOI=10.1167/iovs.11-7479;
RA Oshikawa M., Tsutsui C., Ikegami T., Fuchida Y., Matsubara M., Toyama S.,
RA Usami R., Ohtoko K., Kato S.;
RT "Full-length transcriptome analysis of human retina-derived cell lines
RT ARPE-19 and Y79 using the vector-capping method.";
RL Invest. Ophthalmol. Vis. Sci. 52:6662-6670(2011).
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [10]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Skin;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [11]
RP PROTEIN SEQUENCE OF 27-41.
RX PubMed=15340161; DOI=10.1110/ps.04682504;
RA Zhang Z., Henzel W.J.;
RT "Signal peptide prediction based on analysis of experimentally verified
RT cleavage sites.";
RL Protein Sci. 13:2819-2824(2004).
RN [12]
RP TISSUE SPECIFICITY, SUBCELLULAR LOCATION, AND SUBUNIT.
RX PubMed=11682471; DOI=10.1074/jbc.m105746200;
RA Peek R., Kammerer R.A., Frank S., Otte-Hoeller I., Westphal J.R.;
RT "The angiopoietin-like factor cornea-derived transcript 6 is a putative
RT morphogen for human cornea.";
RL J. Biol. Chem. 277:686-693(2002).
RN [13]
RP INDUCTION.
RX PubMed=16541013;
RA Rozsa F.W., Reed D.M., Scott K.M., Pawar H., Moroi S.E., Kijek T.G.,
RA Krafchak C.M., Othman M.I., Vollrath D., Elner V.M., Richards J.E.;
RT "Gene expression profile of human trabecular meshwork cells in response to
RT long-term dexamethasone exposure.";
RL Mol. Vis. 12:125-141(2006).
RN [14]
RP FUNCTION.
RX PubMed=21199193; DOI=10.1111/j.1365-2443.2010.01483.x;
RA Comes N., Buie L.K., Borras T.;
RT "Evidence for a role of angiopoietin-like 7 (ANGPTL7) in extracellular
RT matrix formation of the human trabecular meshwork: implications for
RT glaucoma.";
RL Genes Cells 16:243-259(2011).
RN [15]
RP FUNCTION.
RX PubMed=25622036; DOI=10.1371/journal.pone.0116838;
RA Toyono T., Usui T., Yokoo S., Taketani Y., Nakagawa S., Kuroda M.,
RA Yamagami S., Amano S.;
RT "Angiopoietin-like 7 is an anti-angiogenic protein required to prevent
RT vascularization of the cornea.";
RL PLoS ONE 10:E0116838-E0116838(2015).
CC -!- FUNCTION: Has a role in the formation and organization of the
CC extracellular matrix. In the eye, it functions as a mediator of
CC dexamethasone-induced matrix deposition in the trabecular meshwork, the
CC tissue responsible for the outflow of the ocular aqueous humor and for
CC the maintenance of intraocular pressure (PubMed:21199193). Is a
CC negative regulator of angiogenesis in the cornea, and plays a major
CC role in maintaining corneal avascularity and transparency
CC (PubMed:25622036). {ECO:0000269|PubMed:21199193,
CC ECO:0000269|PubMed:25622036}.
CC -!- SUBUNIT: Homotetramer; disulfide-linked. {ECO:0000269|PubMed:11682471}.
CC -!- INTERACTION:
CC O43827; P35609: ACTN2; NbExp=3; IntAct=EBI-12698369, EBI-77797;
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:11682471}.
CC -!- TISSUE SPECIFICITY: Higly expressed in the cornea (at protein level)
CC (PubMed:11682471). Expression is restricted to the stromal layer
CC (PubMed:11682471). Also detected at the junction between the corneal
CC stromal layer and the conjuctiva. Not detected in the sclera
CC (PubMed:11682471). {ECO:0000269|PubMed:11682471,
CC ECO:0000269|PubMed:9727400}.
CC -!- INDUCTION: Expression is up-regulated by dexamethasone.
CC {ECO:0000269|PubMed:16541013}.
CC -!- WEB RESOURCE: Name=NIEHS-SNPs;
CC URL="http://egp.gs.washington.edu/data/angptl7/";
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DR EMBL; Y16132; CAA76078.1; -; mRNA.
DR EMBL; AJ300188; CAC15571.1; -; Genomic_DNA.
DR EMBL; AY358301; AAQ88668.1; -; mRNA.
DR EMBL; BT009802; AAP88804.1; -; mRNA.
DR EMBL; AK313716; BAG36459.1; -; mRNA.
DR EMBL; DQ012507; AAY22173.1; -; Genomic_DNA.
DR EMBL; AB593026; BAJ83980.1; -; mRNA.
DR EMBL; AB593027; BAJ83981.1; -; mRNA.
DR EMBL; AL049653; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL391561; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471130; EAW71685.1; -; Genomic_DNA.
DR EMBL; BC001881; AAH01881.1; -; mRNA.
DR CCDS; CCDS128.1; -.
DR RefSeq; NP_066969.1; NM_021146.3.
DR AlphaFoldDB; O43827; -.
DR SMR; O43827; -.
DR BioGRID; 115513; 27.
DR IntAct; O43827; 13.
DR STRING; 9606.ENSP00000366015; -.
DR GlyGen; O43827; 4 sites.
DR iPTMnet; O43827; -.
DR PhosphoSitePlus; O43827; -.
DR BioMuta; ANGPTL7; -.
DR MassIVE; O43827; -.
DR PaxDb; O43827; -.
DR PeptideAtlas; O43827; -.
DR PRIDE; O43827; -.
DR ProteomicsDB; 49194; -.
DR Antibodypedia; 28091; 417 antibodies from 31 providers.
DR DNASU; 10218; -.
DR Ensembl; ENST00000376819.4; ENSP00000366015.3; ENSG00000171819.5.
DR GeneID; 10218; -.
DR KEGG; hsa:10218; -.
DR MANE-Select; ENST00000376819.4; ENSP00000366015.3; NM_021146.4; NP_066969.1.
DR UCSC; uc001ase.5; human.
DR CTD; 10218; -.
DR DisGeNET; 10218; -.
DR GeneCards; ANGPTL7; -.
DR HGNC; HGNC:24078; ANGPTL7.
DR HPA; ENSG00000171819; Low tissue specificity.
DR MIM; 618517; gene.
DR neXtProt; NX_O43827; -.
DR OpenTargets; ENSG00000171819; -.
DR PharmGKB; PA134959516; -.
DR VEuPathDB; HostDB:ENSG00000171819; -.
DR eggNOG; KOG2579; Eukaryota.
DR GeneTree; ENSGT00940000157064; -.
DR HOGENOM; CLU_038628_1_3_1; -.
DR InParanoid; O43827; -.
DR OMA; DCASLYS; -.
DR OrthoDB; 357340at2759; -.
DR PhylomeDB; O43827; -.
DR TreeFam; TF329953; -.
DR PathwayCommons; O43827; -.
DR SignaLink; O43827; -.
DR BioGRID-ORCS; 10218; 4 hits in 1061 CRISPR screens.
DR GeneWiki; ANGPTL7; -.
DR GenomeRNAi; 10218; -.
DR Pharos; O43827; Tbio.
DR PRO; PR:O43827; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; O43827; protein.
DR Bgee; ENSG00000171819; Expressed in calcaneal tendon and 102 other tissues.
DR Genevisible; O43827; HS.
DR GO; GO:0062023; C:collagen-containing extracellular matrix; IBA:GO_Central.
DR GO; GO:0005576; C:extracellular region; IDA:UniProtKB.
DR GO; GO:0005615; C:extracellular space; IBA:GO_Central.
DR GO; GO:0042802; F:identical protein binding; IDA:UniProtKB.
DR GO; GO:0005102; F:signaling receptor binding; IBA:GO_Central.
DR GO; GO:1901346; P:negative regulation of vasculature development involved in avascular cornea development in camera-type eye; IMP:UniProtKB.
DR GO; GO:1903053; P:regulation of extracellular matrix organization; IMP:UniProtKB.
DR GO; GO:0006979; P:response to oxidative stress; TAS:ProtInc.
DR CDD; cd00087; FReD; 1.
DR Gene3D; 3.90.215.10; -; 1.
DR InterPro; IPR036056; Fibrinogen-like_C.
DR InterPro; IPR014716; Fibrinogen_a/b/g_C_1.
DR InterPro; IPR002181; Fibrinogen_a/b/g_C_dom.
DR Pfam; PF00147; Fibrinogen_C; 1.
DR SMART; SM00186; FBG; 1.
DR SUPFAM; SSF56496; SSF56496; 1.
DR PROSITE; PS51406; FIBRINOGEN_C_2; 1.
PE 1: Evidence at protein level;
KW Coiled coil; Direct protein sequencing; Disulfide bond; Glycoprotein;
KW Reference proteome; Secreted; Signal.
FT SIGNAL 1..26
FT /evidence="ECO:0000269|PubMed:15340161"
FT CHAIN 27..346
FT /note="Angiopoietin-related protein 7"
FT /id="PRO_0000009131"
FT DOMAIN 122..343
FT /note="Fibrinogen C-terminal"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00739"
FT COILED 39..119
FT /evidence="ECO:0000255"
FT CARBOHYD 58
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 253
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 267
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 131..162
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00739"
FT DISULFID 285..298
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00739"
FT VARIANT 51
FT /note="E -> D (in dbSNP:rs28990992)"
FT /evidence="ECO:0000269|Ref.6"
FT /id="VAR_025075"
FT VARIANT 140
FT /note="R -> H (in dbSNP:rs28991002)"
FT /evidence="ECO:0000269|Ref.6"
FT /id="VAR_025076"
FT VARIANT 175
FT /note="Q -> H (in dbSNP:rs28991009)"
FT /evidence="ECO:0000269|Ref.6"
FT /id="VAR_025077"
SQ SEQUENCE 346 AA; 40018 MW; AEC0A601CC498B43 CRC64;
MLKKPLSAVT WLCIFIVAFV SHPAWLQKLS KHKTPAQPQL KAANCCEEVK ELKAQVANLS
SLLSELNKKQ ERDWVSVVMQ VMELESNSKR MESRLTDAES KYSEMNNQID IMQLQAAQTV
TQTSADAIYD CSSLYQKNYR ISGVYKLPPD DFLGSPELEV FCDMETSGGG WTIIQRRKSG
LVSFYRDWKQ YKQGFGSIRG DFWLGNEHIH RLSRQPTRLR VEMEDWEGNL RYAEYSHFVL
GNELNSYRLF LGNYTGNVGN DALQYHNNTA FSTKDKDNDN CLDKCAQLRK GGYWYNCCTD
SNLNGVYYRL GEHNKHLDGI TWYGWHGSTY SLKRVEMKIR PEDFKP
