GenomeNet

Database: UniProt
Entry: Q99944
LinkDB: Q99944
Original site: Q99944 
ID   EGFL8_HUMAN             Reviewed;         293 AA.
AC   Q99944; B0S884; G5E9Q0; Q5JP23; Q5SSX3; Q8IV30;
DT   25-OCT-2004, integrated into UniProtKB/Swiss-Prot.
DT   01-MAY-1997, sequence version 1.
DT   10-APR-2019, entry version 152.
DE   RecName: Full=Epidermal growth factor-like protein 8;
DE            Short=EGF-like protein 8;
DE   AltName: Full=Vascular endothelial statin-2;
DE            Short=VE-statin-2;
DE   Flags: Precursor;
GN   Name=EGFL8; Synonyms=C6orf8, NG3; ORFNames=UNQ8752/PRO29920;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RA   Tanaka S.;
RT   "A novel gene regulating tumor angiogenesis.";
RL   Submitted (SEP-2004) to the EMBL/GenBank/DDBJ databases.
RN   [2]
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.,
RA   Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J.,
RA   Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J.,
RA   Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A.,
RA   Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H.,
RA   Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D.,
RA   Wood W.I., Godowski P.J., Gray A.M.;
RT   "The secreted protein discovery initiative (SPDI), a large-scale
RT   effort to identify novel human secreted and transmembrane proteins: a
RT   bioinformatics assessment.";
RL   Genome Res. 13:2265-2270(2003).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=14656967; DOI=10.1101/gr.1736803;
RA   Xie T., Rowen L., Aguado B., Ahearn M.E., Madan A., Qin S.,
RA   Campbell R.D., Hood L.;
RT   "Analysis of the gene-dense major histocompatibility complex class III
RT   region and its comparison to mouse.";
RL   Genome Res. 13:2621-2636(2003).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA   Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA   Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA   Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA   Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA   Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA   Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA   Venter J.C.;
RL   Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT LYS-86.
RX   PubMed=14574404; DOI=10.1038/nature02055;
RA   Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA   Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E.,
RA   Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R.,
RA   Almeida J.P., Ambrose K.D., Andrews T.D., Ashwell R.I.S.,
RA   Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J.,
RA   Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P.,
RA   Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y.,
RA   Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA   Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA   Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA   Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E.,
RA   Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A.,
RA   Frankland J., French L., Garner P., Garnett J., Ghori M.J.,
RA   Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M.,
RA   Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S.,
RA   Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R.,
RA   Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E.,
RA   Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A.,
RA   Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C.,
RA   Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M.,
RA   Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA   Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K.,
RA   McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T.,
RA   Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R.,
RA   Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W.,
RA   Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M.,
RA   Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L.,
RA   Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J.,
RA   Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B.,
RA   Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L.,
RA   Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W.,
RA   Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A.,
RA   Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.;
RT   "The DNA sequence and analysis of human chromosome 6.";
RL   Nature 425:805-811(2003).
RN   [6]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Brain, and 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
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [7]
RP   PROTEIN SEQUENCE OF 26-40.
RX   PubMed=15340161; DOI=10.1110/ps.04682504;
RA   Zhang Z., Henzel W.J.;
RT   "Signal peptide prediction based on analysis of experimentally
RT   verified cleavage sites.";
RL   Protein Sci. 13:2819-2824(2004).
CC   -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
DR   EMBL; AB190520; BAD51398.1; -; mRNA.
DR   EMBL; AY358139; AAQ88506.1; -; mRNA.
DR   EMBL; U89336; AAB47494.1; -; Genomic_DNA.
DR   EMBL; AL662828; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL662884; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL845464; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BX284686; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BX927239; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CR933878; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CR812478; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471081; EAX03598.1; -; Genomic_DNA.
DR   EMBL; BC035574; AAH35574.1; -; mRNA.
DR   EMBL; BC052591; AAH52591.1; -; mRNA.
DR   CCDS; CCDS4743.1; -.
DR   RefSeq; NP_085155.1; NM_030652.3.
DR   UniGene; Hs.731888; -.
DR   ProteinModelPortal; Q99944; -.
DR   SMR; Q99944; -.
DR   BioGrid; 123336; 9.
DR   IntAct; Q99944; 2.
DR   STRING; 9606.ENSP00000378888; -.
DR   iPTMnet; Q99944; -.
DR   PhosphoSitePlus; Q99944; -.
DR   BioMuta; EGFL8; -.
DR   DMDM; 55584040; -.
DR   PaxDb; Q99944; -.
DR   PeptideAtlas; Q99944; -.
DR   PRIDE; Q99944; -.
DR   ProteomicsDB; 78535; -.
DR   Ensembl; ENST00000333845; ENSP00000333380; ENSG00000241404.
DR   Ensembl; ENST00000395512; ENSP00000378888; ENSG00000241404.
DR   Ensembl; ENST00000399648; ENSP00000382556; ENSG00000242038.
DR   Ensembl; ENST00000413733; ENSP00000390866; ENSG00000239974.
DR   Ensembl; ENST00000414111; ENSP00000415577; ENSG00000240389.
DR   Ensembl; ENST00000418252; ENSP00000414996; ENSG00000244444.
DR   Ensembl; ENST00000433364; ENSP00000388000; ENSG00000240389.
DR   Ensembl; ENST00000436155; ENSP00000405502; ENSG00000243897.
DR   Ensembl; ENST00000443511; ENSP00000394193; ENSG00000244444.
DR   Ensembl; ENST00000447331; ENSP00000407236; ENSG00000242038.
DR   Ensembl; ENST00000450526; ENSP00000398893; ENSG00000243897.
DR   Ensembl; ENST00000452189; ENSP00000397426; ENSG00000239974.
DR   Ensembl; ENST00000452290; ENSP00000416366; ENSG00000240592.
DR   Ensembl; ENST00000455889; ENSP00000411023; ENSG00000240592.
DR   GeneID; 80864; -.
DR   KEGG; hsa:80864; -.
DR   UCSC; uc003oab.2; human.
DR   CTD; 80864; -.
DR   DisGeNET; 80864; -.
DR   EuPathDB; HostDB:ENSG00000241404.6; -.
DR   GeneCards; EGFL8; -.
DR   HGNC; HGNC:13944; EGFL8.
DR   HPA; HPA061173; -.
DR   MIM; 609897; gene.
DR   neXtProt; NX_Q99944; -.
DR   OpenTargets; ENSG00000241404; -.
DR   PharmGKB; PA38372; -.
DR   eggNOG; ENOG410IR79; Eukaryota.
DR   eggNOG; ENOG41129FY; LUCA.
DR   GeneTree; ENSGT00940000162975; -.
DR   HOGENOM; HOG000231494; -.
DR   HOVERGEN; HBG051453; -.
DR   InParanoid; Q99944; -.
DR   OMA; TCSCEDN; -.
DR   OrthoDB; 749722at2759; -.
DR   TreeFam; TF331360; -.
DR   GenomeRNAi; 80864; -.
DR   PRO; PR:Q99944; -.
DR   Proteomes; UP000005640; Chromosome 6.
DR   Bgee; ENSG00000241404; Expressed in 88 organ(s), highest expression level in tibial nerve.
DR   ExpressionAtlas; Q99944; baseline and differential.
DR   Genevisible; Q99944; HS.
DR   GO; GO:0009986; C:cell surface; IBA:GO_Central.
DR   GO; GO:0005576; C:extracellular region; IBA:GO_Central.
DR   GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR   GO; GO:0005102; F:signaling receptor binding; IBA:GO_Central.
DR   GO; GO:0048856; P:anatomical structure development; IBA:GO_Central.
DR   InterPro; IPR001881; EGF-like_Ca-bd_dom.
DR   InterPro; IPR013032; EGF-like_CS.
DR   InterPro; IPR000742; EGF-like_dom.
DR   InterPro; IPR000152; EGF-type_Asp/Asn_hydroxyl_site.
DR   InterPro; IPR018097; EGF_Ca-bd_CS.
DR   InterPro; IPR011489; EMI_domain.
DR   Pfam; PF00008; EGF; 1.
DR   Pfam; PF07645; EGF_CA; 1.
DR   Pfam; PF07546; EMI; 1.
DR   SMART; SM00181; EGF; 2.
DR   SMART; SM00179; EGF_CA; 1.
DR   PROSITE; PS00010; ASX_HYDROXYL; 1.
DR   PROSITE; PS00022; EGF_1; 1.
DR   PROSITE; PS01186; EGF_2; 1.
DR   PROSITE; PS50026; EGF_3; 2.
DR   PROSITE; PS01187; EGF_CA; 1.
DR   PROSITE; PS51041; EMI; 1.
PE   1: Evidence at protein level;
KW   Calcium; Coiled coil; Complete proteome; Direct protein sequencing;
KW   Disulfide bond; EGF-like domain; Glycoprotein; Polymorphism;
KW   Reference proteome; Repeat; Secreted; Signal.
FT   SIGNAL        1     25       {ECO:0000269|PubMed:15340161}.
FT   CHAIN        26    293       Epidermal growth factor-like protein 8.
FT                                /FTId=PRO_0000007531.
FT   DOMAIN       34    112       EMI. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00384}.
FT   DOMAIN      111    142       EGF-like 1. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00076}.
FT   DOMAIN      144    184       EGF-like 2; calcium-binding.
FT                                {ECO:0000255|PROSITE-ProRule:PRU00076}.
FT   COILED      195    232       {ECO:0000255}.
FT   CARBOHYD     50     50       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   DISULFID     38     97       {ECO:0000250}.
FT   DISULFID     65     71       {ECO:0000250}.
FT   DISULFID     96    110       {ECO:0000250}.
FT   DISULFID    114    124       {ECO:0000250}.
FT   DISULFID    118    130       {ECO:0000250}.
FT   DISULFID    132    141       {ECO:0000250}.
FT   DISULFID    148    159       {ECO:0000250}.
FT   DISULFID    155    168       {ECO:0000250}.
FT   DISULFID    170    183       {ECO:0000250}.
FT   VARIANT      86     86       R -> K (in dbSNP:rs3096697).
FT                                {ECO:0000269|PubMed:14574404}.
FT                                /FTId=VAR_019792.
FT   VARIANT     204    204       A -> E (in dbSNP:rs2071289).
FT                                /FTId=VAR_019793.
FT   VARIANT     277    277       G -> C (in dbSNP:rs35587174).
FT                                /FTId=VAR_048983.
FT   CONFLICT    273    273       E -> Q (in Ref. 6; AAH35574).
FT                                {ECO:0000305}.
SQ   SEQUENCE   293 AA;  32262 MW;  6519CA254FB23FD0 CRC64;
     MGSRAELCTL LGGFSFLLLL IPGEGAKGGS LRESQGVCSK QTLVVPLHYN ESYSQPVYKP
     YLTLCAGRRI CSTYRTMYRV MWREVRREVQ QTHAVCCQGW KKRHPGALTC EAICAKPCLN
     GGVCVRPDQC ECAPGWGGKH CHVDVDECRT SITLCSHHCF NTAGSFTCGC PHDLVLGVDG
     RTCMEGSPEP PTSASILSVA VREAEKDERA LKQEIHELRG RLERLEQWAG QAGAWVRAVL
     PVPPEELQPE QVAELWGRGD RIESLSDQVL LLEERLGACS CEDNSLGLGV NHR
//
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