EGFL6_HUMAN
ID EGFL6_HUMAN Reviewed; 553 AA.
AC Q8IUX8; B2RCB1; Q6UXJ1; Q8NBV0; Q8WYG3; Q9NY67; Q9NZL7; Q9UFK6;
DT 24-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 149.
DE RecName: Full=Epidermal growth factor-like protein 6;
DE Short=EGF-like protein 6;
DE AltName: Full=MAM and EGF domains-containing gene protein;
DE Flags: Precursor;
GN Name=EGFL6; Synonyms=MAEG; ORFNames=PP648, UNQ281/PRO320;
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] (ISOFORM 1), AND DEVELOPMENTAL STAGE.
RC TISSUE=Fetal liver;
RX PubMed=10610727; DOI=10.1006/geno.1999.6011;
RA Yeung G., Mulero J.J., Berntsen R.P., Loeb D.B., Drmanac R., Ford J.E.;
RT "Cloning of a novel epidermal growth factor repeat containing gene EGFL6:
RT expressed in tumor and fetal tissues.";
RL Genomics 62:304-307(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), AND DEVELOPMENTAL STAGE.
RC TISSUE=Teratocarcinoma;
RX PubMed=10777661; DOI=10.1006/geno.2000.6146;
RA Buchner G., Orfanelli U., Quaderi N., Bassi M.T., Andolfi G.;
RT "Identification of a new EGF-repeat-containing gene from human Xp22: a
RT candidate for developmental disorders.";
RL Genomics 65:16-23(2000).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RX PubMed=15498874; DOI=10.1073/pnas.0404089101;
RA Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X.,
RA Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.,
RA Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.;
RT "Large-scale cDNA transfection screening for genes related to cancer
RT development and progression.";
RL Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Placenta;
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 [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [7]
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 [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
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 [9]
RP VARIANT [LARGE SCALE ANALYSIS] PHE-508.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: May bind integrin alpha-8/beta-1 and play a role in hair
CC follicle morphogenesis. Promotes matrix assembly (By similarity).
CC {ECO:0000250}.
CC -!- INTERACTION:
CC Q8IUX8; Q9UHD9: UBQLN2; NbExp=3; IntAct=EBI-715208, EBI-947187;
CC -!- SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular
CC matrix, basement membrane {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8IUX8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8IUX8-2; Sequence=VSP_027089;
CC -!- DEVELOPMENTAL STAGE: Only detected in fetal tissues.
CC {ECO:0000269|PubMed:10610727, ECO:0000269|PubMed:10777661}.
CC -!- SIMILARITY: Belongs to the nephronectin family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAG22483.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=AAQ88699.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AF186084; AAF27812.1; -; mRNA.
DR EMBL; AJ245671; CAB92132.1; -; mRNA.
DR EMBL; AF193055; AAG22483.1; ALT_FRAME; mRNA.
DR EMBL; AY358333; AAQ88699.1; ALT_FRAME; mRNA.
DR EMBL; AK075214; BAC11477.1; -; mRNA.
DR EMBL; AK315018; BAG37508.1; -; mRNA.
DR EMBL; AL117610; CAB56014.2; -; mRNA.
DR EMBL; CH471074; EAW98822.1; -; Genomic_DNA.
DR EMBL; BC038587; AAH38587.1; -; mRNA.
DR CCDS; CCDS14155.1; -. [Q8IUX8-1]
DR CCDS; CCDS55370.1; -. [Q8IUX8-2]
DR PIR; T17324; T17324.
DR RefSeq; NP_001161362.1; NM_001167890.1. [Q8IUX8-2]
DR RefSeq; NP_056322.2; NM_015507.3. [Q8IUX8-1]
DR AlphaFoldDB; Q8IUX8; -.
DR SMR; Q8IUX8; -.
DR BioGRID; 117459; 19.
DR IntAct; Q8IUX8; 18.
DR MINT; Q8IUX8; -.
DR STRING; 9606.ENSP00000369976; -.
DR GlyGen; Q8IUX8; 1 site.
DR iPTMnet; Q8IUX8; -.
DR PhosphoSitePlus; Q8IUX8; -.
DR BioMuta; EGFL6; -.
DR DMDM; 74728003; -.
DR MassIVE; Q8IUX8; -.
DR PaxDb; Q8IUX8; -.
DR PeptideAtlas; Q8IUX8; -.
DR PRIDE; Q8IUX8; -.
DR ProteomicsDB; 70628; -. [Q8IUX8-1]
DR ProteomicsDB; 70629; -. [Q8IUX8-2]
DR Antibodypedia; 641; 102 antibodies from 15 providers.
DR DNASU; 25975; -.
DR Ensembl; ENST00000361306.6; ENSP00000355126.1; ENSG00000198759.12. [Q8IUX8-1]
DR Ensembl; ENST00000380602.3; ENSP00000369976.3; ENSG00000198759.12. [Q8IUX8-2]
DR GeneID; 25975; -.
DR KEGG; hsa:25975; -.
DR MANE-Select; ENST00000361306.6; ENSP00000355126.1; NM_015507.4; NP_056322.2.
DR UCSC; uc004cvi.4; human. [Q8IUX8-1]
DR CTD; 25975; -.
DR DisGeNET; 25975; -.
DR GeneCards; EGFL6; -.
DR HGNC; HGNC:3235; EGFL6.
DR HPA; ENSG00000198759; Tissue enriched (placenta).
DR MIM; 300239; gene.
DR neXtProt; NX_Q8IUX8; -.
DR OpenTargets; ENSG00000198759; -.
DR PharmGKB; PA27668; -.
DR VEuPathDB; HostDB:ENSG00000198759; -.
DR eggNOG; KOG1217; Eukaryota.
DR GeneTree; ENSGT00930000150973; -.
DR HOGENOM; CLU_036867_0_0_1; -.
DR InParanoid; Q8IUX8; -.
DR OMA; AVCPYNR; -.
DR OrthoDB; 766075at2759; -.
DR PhylomeDB; Q8IUX8; -.
DR TreeFam; TF330819; -.
DR PathwayCommons; Q8IUX8; -.
DR SignaLink; Q8IUX8; -.
DR BioGRID-ORCS; 25975; 10 hits in 705 CRISPR screens.
DR ChiTaRS; EGFL6; human.
DR GenomeRNAi; 25975; -.
DR Pharos; Q8IUX8; Tbio.
DR PRO; PR:Q8IUX8; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q8IUX8; protein.
DR Bgee; ENSG00000198759; Expressed in visceral pleura and 130 other tissues.
DR Genevisible; Q8IUX8; HS.
DR GO; GO:0005604; C:basement membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005615; C:extracellular space; TAS:ProtInc.
DR GO; GO:0016020; C:membrane; IEA:InterPro.
DR GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR GO; GO:0005178; F:integrin binding; TAS:ProtInc.
DR GO; GO:0007155; P:cell adhesion; IEA:UniProtKB-KW.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0030198; P:extracellular matrix organization; IEA:Ensembl.
DR GO; GO:0010811; P:positive regulation of cell-substrate adhesion; IEA:Ensembl.
DR CDD; cd06263; MAM; 1.
DR InterPro; IPR013320; ConA-like_dom_sf.
DR InterPro; IPR001881; EGF-like_Ca-bd_dom.
DR InterPro; IPR000742; EGF-like_dom.
DR InterPro; IPR000152; EGF-type_Asp/Asn_hydroxyl_site.
DR InterPro; IPR018097; EGF_Ca-bd_CS.
DR InterPro; IPR032930; Egfl6.
DR InterPro; IPR009030; Growth_fac_rcpt_cys_sf.
DR InterPro; IPR000998; MAM_dom.
DR PANTHER; PTHR24050:SF24; PTHR24050:SF24; 1.
DR Pfam; PF07645; EGF_CA; 3.
DR Pfam; PF00629; MAM; 1.
DR SMART; SM00181; EGF; 5.
DR SMART; SM00179; EGF_CA; 3.
DR SMART; SM00137; MAM; 1.
DR SUPFAM; SSF49899; SSF49899; 1.
DR SUPFAM; SSF57184; SSF57184; 1.
DR PROSITE; PS00010; ASX_HYDROXYL; 3.
DR PROSITE; PS00022; EGF_1; 1.
DR PROSITE; PS01186; EGF_2; 2.
DR PROSITE; PS50026; EGF_3; 3.
DR PROSITE; PS01187; EGF_CA; 3.
DR PROSITE; PS50060; MAM_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Basement membrane; Calcium; Cell adhesion;
KW Coiled coil; Developmental protein; Differentiation; Disulfide bond;
KW EGF-like domain; Extracellular matrix; Glycoprotein; Reference proteome;
KW Repeat; Secreted; Signal.
FT SIGNAL 1..21
FT /evidence="ECO:0000255"
FT CHAIN 22..553
FT /note="Epidermal growth factor-like protein 6"
FT /id="PRO_0000295811"
FT DOMAIN 65..91
FT /note="EGF-like 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 94..133
FT /note="EGF-like 2; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 137..173
FT /note="EGF-like 3"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 174..212
FT /note="EGF-like 4; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 219..259
FT /note="EGF-like 5; calcium-binding"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DOMAIN 400..546
FT /note="MAM"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00128"
FT REGION 291..350
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 331..363
FT /evidence="ECO:0000255"
FT COMPBIAS 330..350
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 397
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 98..109
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 105..118
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 120..132
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 178..191
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 185..200
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 223..236
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 230..245
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT DISULFID 247..258
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076"
FT VAR_SEQ 394
FT /note="K -> KA (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10777661"
FT /id="VSP_027089"
FT VARIANT 66
FT /note="E -> K (in dbSNP:rs16979010)"
FT /id="VAR_033366"
FT VARIANT 164
FT /note="R -> C (in dbSNP:rs34613284)"
FT /id="VAR_033367"
FT VARIANT 508
FT /note="L -> F (in dbSNP:rs34550481)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_033368"
FT VARIANT 535
FT /note="D -> N (in dbSNP:rs16979033)"
FT /id="VAR_033369"
FT CONFLICT 22
FT /note="N -> D (in Ref. 5; BAC11477)"
FT /evidence="ECO:0000305"
FT CONFLICT 83
FT /note="F -> L (in Ref. 6; CAB56014)"
FT /evidence="ECO:0000305"
FT CONFLICT 134
FT /note="N -> Y (in Ref. 6; CAB56014)"
FT /evidence="ECO:0000305"
FT CONFLICT 230
FT /note="C -> S (in Ref. 6; CAB56014)"
FT /evidence="ECO:0000305"
FT CONFLICT 320
FT /note="E -> G (in Ref. 6; CAB56014)"
FT /evidence="ECO:0000305"
FT CONFLICT 464
FT /note="L -> S (in Ref. 6; CAB56014)"
FT /evidence="ECO:0000305"
FT CONFLICT 521
FT /note="E -> V (in Ref. 6; CAB56014)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 553 AA; 61317 MW; 3AE93A0362E861E0 CRC64;
MPLPWSLALP LLLSWVAGGF GNAASARHHG LLASARQPGV CHYGTKLACC YGWRRNSKGV
CEATCEPGCK FGECVGPNKC RCFPGYTGKT CSQDVNECGM KPRPCQHRCV NTHGSYKCFC
LSGHMLMPDA TCVNSRTCAM INCQYSCEDT EEGPQCLCPS SGLRLAPNGR DCLDIDECAS
GKVICPYNRR CVNTFGSYYC KCHIGFELQY ISGRYDCIDI NECTMDSHTC SHHANCFNTQ
GSFKCKCKQG YKGNGLRCSA IPENSVKEVL RAPGTIKDRI KKLLAHKNSM KKKAKIKNVT
PEPTRTPTPK VNLQPFNYEE IVSRGGNSHG GKKGNEEKMK EGLEDEKREE KALKNDIEER
SLRGDVFFPK VNEAGEFGLI LVQRKALTSK LEHKDLNISV DCSFNHGICD WKQDREDDFD
WNPADRDNAI GFYMAVPALA GHKKDIGRLK LLLPDLQPQS NFCLLFDYRL AGDKVGKLRV
FVKNSNNALA WEKTTSEDEK WKTGKIQLYQ GTDATKSIIF EAERGKGKTG EIAVDGVLLV
SGLCPDSLLS VDD
