ISM2_HUMAN
ID ISM2_HUMAN Reviewed; 571 AA.
AC Q6H9L7; A8K6D5; O95432; Q495U5; Q68CN3; Q86TQ7; Q86TW3; Q86TW4; Q8N501;
AC Q8NBL0;
DT 23-OCT-2007, integrated into UniProtKB/Swiss-Prot.
DT 19-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=Isthmin-2;
DE AltName: Full=Thrombospondin and AMOP domain-containing isthmin-like protein 1;
DE AltName: Full=Thrombospondin type-1 domain-containing protein 3;
DE Flags: Precursor;
GN Name=ISM2; Synonyms=TAIL1, THSD3; ORFNames=PSEC0137;
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] (ISOFORMS 1; 3; 4 AND 5), AND TISSUE
RP SPECIFICITY.
RC TISSUE=Heart;
RX PubMed=15194193; DOI=10.1016/j.gene.2004.03.008;
RA Rossi V., Beffagna G., Rampazzo A., Bauce B., Danieli G.A.;
RT "TAIL1: an isthmin-like gene, containing type 1 thrombospondin-repeat and
RT AMOP domain, mapped to ARVD1 critical region.";
RL Gene 335:101-108(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 1-461 (ISOFORM 1).
RC TISSUE=Placenta;
RA Li W.B., Gruber C., Jessee J., Polayes D.;
RT "Full-length cDNA libraries and normalization.";
RL Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT THR-94.
RX PubMed=16303743; DOI=10.1093/dnares/12.2.117;
RA Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J.,
RA Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S.,
RA Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.,
RA Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S.,
RA Isogai T.;
RT "Signal sequence and keyword trap in silico for selection of full-length
RT human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA
RT libraries.";
RL DNA Res. 12:117-126(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT THR-94.
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT THR-94.
RC TISSUE=Cervix;
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12508121; DOI=10.1038/nature01348;
RA Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
RA Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
RA Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H.,
RA Du H., Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T.,
RA Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B.,
RA Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D.,
RA Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R.,
RA Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S.,
RA Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C.,
RA Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S.,
RA Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C.,
RA Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P.,
RA Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
RA Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
RA Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J.,
RA Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F.,
RA Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F.,
RA Waterston R., Hood L., Weissenbach J.;
RT "The DNA sequence and analysis of human chromosome 14.";
RL Nature 421:601-607(2003).
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] (ISOFORMS 1 AND 2), AND VARIANTS
RP THR-94 AND ALA-133.
RC TISSUE=Placenta;
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).
CC -!- INTERACTION:
CC Q6H9L7; Q9NY72: SCN3B; NbExp=3; IntAct=EBI-17249161, EBI-17247926;
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=Q6H9L7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6H9L7-2; Sequence=VSP_028610, VSP_028611;
CC Name=3;
CC IsoId=Q6H9L7-3; Sequence=VSP_028612;
CC Name=4;
CC IsoId=Q6H9L7-4; Sequence=VSP_029679, VSP_029680;
CC Name=5;
CC IsoId=Q6H9L7-5; Sequence=VSP_029681;
CC -!- TISSUE SPECIFICITY: Expressed at high levels in the placenta and at
CC moderate levels in the pancreas, kidney, heart, liver, lung, brain and
CC skeletal muscle. {ECO:0000269|PubMed:15194193}.
CC -!- SIMILARITY: Belongs to the isthmin family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAD09622.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC Sequence=CAD62605.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=CAD66577.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=EAW81296.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AJ583024; CAE47313.1; -; mRNA.
DR EMBL; BX248277; CAD62605.1; ALT_INIT; mRNA.
DR EMBL; BX248280; CAD62608.1; -; mRNA.
DR EMBL; BX248770; CAD66577.1; ALT_INIT; mRNA.
DR EMBL; AK075445; BAC11626.1; -; mRNA.
DR EMBL; AK291600; BAF84289.1; -; mRNA.
DR EMBL; CR749863; CAH18707.2; -; mRNA.
DR EMBL; AF111168; AAD09622.1; ALT_SEQ; Genomic_DNA.
DR EMBL; CH471061; EAW81296.1; ALT_SEQ; Genomic_DNA.
DR EMBL; BC033140; AAH33140.1; -; mRNA.
DR EMBL; BC101019; AAI01020.1; -; mRNA.
DR EMBL; BC101020; AAI01021.1; -; mRNA.
DR EMBL; BC101021; AAI01022.2; -; mRNA.
DR EMBL; BC101022; AAI01023.1; -; mRNA.
DR CCDS; CCDS45143.1; -. [Q6H9L7-2]
DR CCDS; CCDS9864.1; -. [Q6H9L7-1]
DR RefSeq; NP_872315.2; NM_182509.3. [Q6H9L7-2]
DR RefSeq; NP_954993.1; NM_199296.2. [Q6H9L7-1]
DR AlphaFoldDB; Q6H9L7; -.
DR SMR; Q6H9L7; -.
DR BioGRID; 126919; 29.
DR IntAct; Q6H9L7; 1.
DR STRING; 9606.ENSP00000341490; -.
DR GlyGen; Q6H9L7; 3 sites.
DR iPTMnet; Q6H9L7; -.
DR PhosphoSitePlus; Q6H9L7; -.
DR BioMuta; ISM2; -.
DR DMDM; 74724655; -.
DR MassIVE; Q6H9L7; -.
DR PaxDb; Q6H9L7; -.
DR PeptideAtlas; Q6H9L7; -.
DR PRIDE; Q6H9L7; -.
DR ProteomicsDB; 66349; -. [Q6H9L7-1]
DR ProteomicsDB; 66350; -. [Q6H9L7-2]
DR ProteomicsDB; 66351; -. [Q6H9L7-3]
DR ProteomicsDB; 66353; -. [Q6H9L7-5]
DR Antibodypedia; 26082; 43 antibodies from 16 providers.
DR DNASU; 145501; -.
DR Ensembl; ENST00000216481.10; ENSP00000216481.6; ENSG00000100593.18. [Q6H9L7-4]
DR Ensembl; ENST00000342219.9; ENSP00000341490.4; ENSG00000100593.18. [Q6H9L7-1]
DR Ensembl; ENST00000493585.5; ENSP00000420452.1; ENSG00000100593.18. [Q6H9L7-2]
DR GeneID; 145501; -.
DR KEGG; hsa:145501; -.
DR MANE-Select; ENST00000342219.9; ENSP00000341490.4; NM_199296.3; NP_954993.1.
DR UCSC; uc001xtz.4; human. [Q6H9L7-1]
DR CTD; 145501; -.
DR DisGeNET; 145501; -.
DR GeneCards; ISM2; -.
DR HGNC; HGNC:23176; ISM2.
DR HPA; ENSG00000100593; Tissue enriched (placenta).
DR MIM; 612684; gene.
DR neXtProt; NX_Q6H9L7; -.
DR OpenTargets; ENSG00000100593; -.
DR PharmGKB; PA164721097; -.
DR VEuPathDB; HostDB:ENSG00000100593; -.
DR eggNOG; ENOG502RU1R; Eukaryota.
DR GeneTree; ENSGT00940000162809; -.
DR HOGENOM; CLU_2653813_0_0_1; -.
DR InParanoid; Q6H9L7; -.
DR OMA; HCCYDED; -.
DR OrthoDB; 876510at2759; -.
DR PhylomeDB; Q6H9L7; -.
DR TreeFam; TF331333; -.
DR PathwayCommons; Q6H9L7; -.
DR SignaLink; Q6H9L7; -.
DR BioGRID-ORCS; 145501; 2 hits in 1066 CRISPR screens.
DR GenomeRNAi; 145501; -.
DR Pharos; Q6H9L7; Tdark.
DR PRO; PR:Q6H9L7; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q6H9L7; protein.
DR Bgee; ENSG00000100593; Expressed in decidua and 84 other tissues.
DR ExpressionAtlas; Q6H9L7; baseline and differential.
DR Genevisible; Q6H9L7; HS.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
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:SF28; PTHR10239:SF28; 2.
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 1: Evidence at protein level;
KW Alternative splicing; Disulfide bond; Glycoprotein; Reference proteome;
KW Secreted; Signal.
FT SIGNAL 1..26
FT /evidence="ECO:0000255"
FT CHAIN 27..571
FT /note="Isthmin-2"
FT /id="PRO_5000072090"
FT DOMAIN 327..371
FT /note="TSP type-1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DOMAIN 396..559
FT /note="AMOP"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00347"
FT REGION 30..60
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 116..141
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 257..294
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 116..131
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 268..294
FT /note="Acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 117
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 300
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 392
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 338..365
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DISULFID 342..370
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT DISULFID 353..357
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210"
FT VAR_SEQ 48..128
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15194193"
FT /id="VSP_028612"
FT VAR_SEQ 48..76
FT /note="VSASPDPRPLKEEEEAPLLPRTHLQAEPH -> PPFQVRASSERSPAGARNL
FT ALCGVAGQGR (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15194193"
FT /id="VSP_029679"
FT VAR_SEQ 77..571
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15194193"
FT /id="VSP_029680"
FT VAR_SEQ 129..209
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:15194193"
FT /id="VSP_029681"
FT VAR_SEQ 210..292
FT /note="VTIKVVEDPQAEVSIDLLAEPSNPPPQDTLSWLPALWSFLWGDYKGEEKDRA
FT PGEKGEEKEEDEDYPSEDIEGEDQEDKEEDE -> TMSLRRSGVPGLPAVGTAALASSR
FT GLGPVAMAALPPRPVPVTCPPVLALRTRTPWASPVRSGSSWPAMLRTCMIKMWTAVRSG
FT (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334, ECO:0000303|Ref.2"
FT /id="VSP_028610"
FT VAR_SEQ 293..571
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334, ECO:0000303|Ref.2"
FT /id="VSP_028611"
FT VARIANT 94
FT /note="A -> T (in dbSNP:rs3742728)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16303743,
FT ECO:0000269|PubMed:17974005"
FT /id="VAR_035365"
FT VARIANT 133
FT /note="P -> A (in dbSNP:rs11850175)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_035366"
FT CONFLICT 117
FT /note="N -> S (in Ref. 3; BAC11626)"
FT /evidence="ECO:0000305"
FT CONFLICT 247
FT /note="S -> P (in Ref. 3; BAC11626)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 571 AA; 63906 MW; D83329D10F300C7C CRC64;
MRALRDRAGL LLCVLLLAAL LEAALGLPVK KPRLRGPRPG SLTRLAEVSA SPDPRPLKEE
EEAPLLPRTH LQAEPHQHGC WTVTEPAAMT PGNATPPRTP EVTPLRLELQ KLPGLANTTL
STPNPDTQAS ASPDPRPLRE EEEARLLPRT HLQAELHQHG CWTVTEPAAL TPGNATPPRT
QEVTPLLLEL QKLPELVHAT LSTPNPDNQV TIKVVEDPQA EVSIDLLAEP SNPPPQDTLS
WLPALWSFLW GDYKGEEKDR APGEKGEEKE EDEDYPSEDI EGEDQEDKEE DEEEQALWFN
GTTDNWDQGW LAPGDWVFKD SVSYDYEPQK EWSPWSPCSG NCSTGKQQRT RPCGYGCTAT
ETRTCDLPSC PGTEDKDTLG LPSEEWKLLA RNATDMHDQD VDSCEKWLNC KSDFLIKYLS
QMLRDLPSCP CAYPLEAMDS PVSLQDEHQG RSFRWRDASG PRERLDIYQP TARFCLRSML
SGESSTLAAQ HCCYDEDSRL LTRGKGAGMP NLISTDFSPK LHFKFDTTPW ILCKGDWSRL
HAVLPPNNGR ACTDNPLEEE YLAQLQEAKE Y
