ISM1_HUMAN
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 03-AUG-2022, entry version 96.
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; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC 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., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., 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., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., 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., 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 (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 project:
RT 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 anti-
CC 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 AlphaFoldDB; B1AKI9; -.
DR BioGRID; 126738; 1.
DR STRING; 9606.ENSP00000262487; -.
DR GlyGen; B1AKI9; 1 site.
DR iPTMnet; B1AKI9; -.
DR PhosphoSitePlus; B1AKI9; -.
DR BioMuta; ISM1; -.
DR MassIVE; B1AKI9; -.
DR PaxDb; B1AKI9; -.
DR PeptideAtlas; B1AKI9; -.
DR PRIDE; B1AKI9; -.
DR ProteomicsDB; 3068; -.
DR Antibodypedia; 52888; 66 antibodies from 13 providers.
DR DNASU; 140862; -.
DR Ensembl; ENST00000262487.5; ENSP00000262487.3; ENSG00000101230.6.
DR GeneID; 140862; -.
DR KEGG; hsa:140862; -.
DR MANE-Select; ENST00000262487.5; ENSP00000262487.3; NM_080826.2; NP_543016.1.
DR UCSC; uc010gce.2; human.
DR CTD; 140862; -.
DR DisGeNET; 140862; -.
DR GeneCards; ISM1; -.
DR HGNC; HGNC:16213; ISM1.
DR HPA; ENSG00000101230; Tissue enhanced (thyroid).
DR MIM; 615793; gene.
DR neXtProt; NX_B1AKI9; -.
DR OpenTargets; ENSG00000101230; -.
DR PharmGKB; PA164721080; -.
DR VEuPathDB; HostDB:ENSG00000101230; -.
DR eggNOG; ENOG502QR6G; Eukaryota.
DR GeneTree; ENSGT00940000159062; -.
DR HOGENOM; CLU_030263_0_0_1; -.
DR InParanoid; B1AKI9; -.
DR OMA; CYDDSMQ; -.
DR OrthoDB; 876510at2759; -.
DR PhylomeDB; B1AKI9; -.
DR TreeFam; TF331333; -.
DR PathwayCommons; B1AKI9; -.
DR BioGRID-ORCS; 140862; 15 hits in 1067 CRISPR screens.
DR ChiTaRS; ISM1; human.
DR GenomeRNAi; 140862; -.
DR Pharos; B1AKI9; Tbio.
DR PRO; PR:B1AKI9; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; B1AKI9; protein.
DR Bgee; ENSG00000101230; Expressed in pericardium and 129 other tissues.
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; IPR042413; ISM.
DR InterPro; IPR000884; TSP1_rpt.
DR InterPro; IPR036383; TSP1_rpt_sf.
DR PANTHER; PTHR10239:SF30; PTHR10239:SF30; 1.
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 Disulfide bond; Glycoprotein; Reference proteome; Secreted; Signal.
FT SIGNAL 1..29
FT /evidence="ECO:0000255"
FT CHAIN 30..464
FT /note="Isthmin-1"
FT /id="PRO_0000348256"
FT DOMAIN 218..262
FT /note="TSP type-1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DOMAIN 289..452
FT /note="AMOP"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00347"
FT REGION 50..98
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 135..155
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 173..219
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 64..80
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 173..190
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 200..216
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 39
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 229..256
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DISULFID 233..261
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DISULFID 244..248
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT VARIANT 193
FT /note="P -> R (in dbSNP:rs3747933)"
FT /id="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
