ID   ISM1_HUMAN              Reviewed;         464 AA.
AC   B1AKI9; Q8WVH9;
DT   02-SEP-2008, integrated into UniProtKB/Swiss-Prot.
DT   02-SEP-2008, sequence version 2.
DT   16-JAN-2019, entry version 79.
DE   RecName: Full=Isthmin-1;
DE   Flags: Precursor;
GN   Name=ISM1; Synonyms=C20orf82, ISM;
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 [LARGE SCALE GENOMIC DNA].
RX   PubMed=11780052; DOI=10.1038/414865a;
RA   Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA   Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA   Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M.,
RA   Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J.,
RA   Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P.,
RA   Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M.,
RA   Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R.,
RA   Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M.,
RA   Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA   Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA   Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA   Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA   Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA   Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA   Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA   Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA   Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA   Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H.,
RA   Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S.,
RA   Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E.,
RA   Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A.,
RA   Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M.,
RA   Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A.,
RA   Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S.,
RA   Rogers J.;
RT   "The DNA sequence and comparative analysis of human chromosome 20.";
RL   Nature 414:865-871(2001).
RN   [2]
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 314-464.
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
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [4]
RP   IDENTIFICATION.
RX   PubMed=12128218; DOI=10.1016/S0925-4773(02)00123-5;
RA   Pera E.M., Kim J.I., Martinez S.L., Brechner M., Li S.-Y., Wessely O.,
RA   De Robertis E.M.;
RT   "Isthmin is a novel secreted protein expressed as part of the Fgf-8
RT   synexpression group in the Xenopus midbrain-hindbrain organizer.";
RL   Mech. Dev. 116:169-172(2002).
CC   -!- FUNCTION: Acts as an angiogenesis inhibitor.
CC       {ECO:0000250|UniProtKB:A2ATD1}.
CC   -!- SUBUNIT: Interacts with integrin ITGAV/ITGB5.
CC       {ECO:0000250|UniProtKB:A2ATD1}.
CC   -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC   -!- DOMAIN: The C-terminal AMOP domain plays an important role in the
CC       anti-angiogenic function of ISM1. {ECO:0000250|UniProtKB:A2ATD1}.
CC   -!- SIMILARITY: Belongs to the isthmin family. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=EAX10318.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR   EMBL; AL050320; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL133463; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471133; EAX10318.1; ALT_SEQ; Genomic_DNA.
DR   EMBL; BC017997; AAH17997.1; -; mRNA.
DR   CCDS; CCDS46579.1; -.
DR   RefSeq; NP_543016.1; NM_080826.1.
DR   UniGene; Hs.559353; -.
DR   ProteinModelPortal; B1AKI9; -.
DR   SMR; B1AKI9; -.
DR   STRING; 9606.ENSP00000262487; -.
DR   iPTMnet; B1AKI9; -.
DR   PhosphoSitePlus; B1AKI9; -.
DR   BioMuta; ISM1; -.
DR   PaxDb; B1AKI9; -.
DR   PRIDE; B1AKI9; -.
DR   ProteomicsDB; 3068; -.
DR   Ensembl; ENST00000262487; ENSP00000262487; ENSG00000101230.
DR   GeneID; 140862; -.
DR   KEGG; hsa:140862; -.
DR   UCSC; uc010gce.2; human.
DR   CTD; 140862; -.
DR   DisGeNET; 140862; -.
DR   EuPathDB; HostDB:ENSG00000101230.5; -.
DR   GeneCards; ISM1; -.
DR   H-InvDB; HIX0015647; -.
DR   HGNC; HGNC:16213; ISM1.
DR   MIM; 615793; gene.
DR   neXtProt; NX_B1AKI9; -.
DR   OpenTargets; ENSG00000101230; -.
DR   PharmGKB; PA164721080; -.
DR   eggNOG; ENOG410IE9A; Eukaryota.
DR   eggNOG; ENOG410XT8R; LUCA.
DR   GeneTree; ENSGT00940000159062; -.
DR   HOGENOM; HOG000113110; -.
DR   HOVERGEN; HBG108010; -.
DR   InParanoid; B1AKI9; -.
DR   OMA; QKCTENP; -.
DR   OrthoDB; 876510at2759; -.
DR   PhylomeDB; B1AKI9; -.
DR   TreeFam; TF331333; -.
DR   ChiTaRS; ISM1; human.
DR   GenomeRNAi; 140862; -.
DR   PRO; PR:B1AKI9; -.
DR   Proteomes; UP000005640; Chromosome 20.
DR   Bgee; ENSG00000101230; Expressed in 145 organ(s), highest expression level in right lobe of thyroid gland.
DR   Genevisible; B1AKI9; HS.
DR   GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR   GO; GO:0016525; P:negative regulation of angiogenesis; IBA:GO_Central.
DR   Gene3D; 2.20.100.10; -; 1.
DR   InterPro; IPR005533; AMOP_dom.
DR   InterPro; IPR000884; TSP1_rpt.
DR   InterPro; IPR036383; TSP1_rpt_sf.
DR   Pfam; PF03782; AMOP; 1.
DR   Pfam; PF00090; TSP_1; 1.
DR   SMART; SM00723; AMOP; 1.
DR   SMART; SM00209; TSP1; 1.
DR   SUPFAM; SSF82895; SSF82895; 1.
DR   PROSITE; PS50856; AMOP; 1.
DR   PROSITE; PS50092; TSP1; 1.
PE   2: Evidence at transcript level;
KW   Complete proteome; Disulfide bond; Glycoprotein; Polymorphism;
KW   Reference proteome; Secreted; Signal.
FT   SIGNAL        1     29       {ECO:0000255}.
FT   CHAIN        30    464       Isthmin-1.
FT                                /FTId=PRO_0000348256.
FT   DOMAIN      218    262       TSP type-1. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00210}.
FT   DOMAIN      289    452       AMOP. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00347}.
FT   CARBOHYD     39     39       N-linked (GlcNAc...) asparagine.
FT                                {ECO:0000255}.
FT   DISULFID    229    256       {ECO:0000255|PROSITE-ProRule:PRU00210}.
FT   DISULFID    233    261       {ECO:0000255|PROSITE-ProRule:PRU00210}.
FT   DISULFID    244    248       {ECO:0000255|PROSITE-ProRule:PRU00210}.
FT   VARIANT     193    193       P -> R (in dbSNP:rs3747933).
FT                                /FTId=VAR_052664.
SQ   SEQUENCE   464 AA;  52107 MW;  698AF5CCB599D945 CRC64;
     MVRLAAELLL LLGLLLLTLH ITVLRGSGAA DGPDAAAGNA SQAQLQNNLN VGSDTTSETS
     FSLSKEAPRE HLDHQAAHQP FPRPRFRQET GHPSLQRDFP RSFLLDLPNF PDLSKADING
     QNPNIQVTIE VVDGPDSEAD KDQHPENKPS WSVPSPDWRA WWQRSLSLAR ANSGDQDYKY
     DSTSDDSNFL NPPRGWDHTA PGHRTFETKD QPEYDSTDGE GDWSLWSVCS VTCGNGNQKR
     TRSCGYACTA TESRTCDRPN CPGIEDTFRT AATEVSLLAG SEEFNATKLF EVDTDSCERW
     MSCKSEFLKK YMHKVMNDLP SCPCSYPTEV AYSTADIFDR IKRKDFRWKD ASGPKEKLEI
     YKPTARYCIR SMLSLESTTL AAQHCCYGDN MQLITRGKGA GTPNLISTEF SAELHYKVDV
     LPWIICKGDW SRYNEARPPN NGQKCTESPS DEDYIKQFQE AREY
//