ID   ESIP1_HUMAN             Reviewed;         318 AA.
AC   Q96J88; Q8IVC7; Q8NDQ7;
DT   15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT   15-JAN-2008, sequence version 2.
DT   24-JAN-2024, entry version 141.
DE   RecName: Full=Epithelial-stromal interaction protein 1;
GN   Name=EPSTI1;
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 2), INDUCTION, AND TISSUE SPECIFICITY.
RC   TISSUE=Mammary gland;
RX   PubMed=11991720; DOI=10.1006/geno.2002.6755;
RA   Nielsen H.L., Ronnov-Jessen L., Villadsen R., Petersen O.W.;
RT   "Identification of EPSTI1, a novel gene induced by epithelial-stromal
RT   interaction in human breast cancer.";
RL   Genomics 79:703-710(2002).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC   TISSUE=Testis;
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   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Lymph node;
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   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15057823; DOI=10.1038/nature02379;
RA   Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
RA   Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S.,
RA   Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P.,
RA   Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L.,
RA   Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P.,
RA   Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
RA   Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C.,
RA   Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P.,
RA   Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L.,
RA   Frankish A.G., Frankland J., French L., Garner P., Garnett J.,
RA   Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M.,
RA   Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D.,
RA   Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D.,
RA   Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S.,
RA   Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J.,
RA   Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
RA   Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S.,
RA   Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R.,
RA   Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W.,
RA   Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P.,
RA   Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L.,
RA   Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R.,
RA   Rogers J., Ross M.T.;
RT   "The DNA sequence and analysis of human chromosome 13.";
RL   Nature 428:522-528(2004).
RN   [5]
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   [6]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC   TISSUE=Colon;
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   [7]
RP   TISSUE SPECIFICITY.
RX   PubMed=16769699; DOI=10.1093/dnares/dsi020;
RA   Ishii T., Onda H., Tanigawa A., Ohshima S., Fujiwara H., Mima T.,
RA   Katada Y., Deguchi H., Suemura M., Miyake T., Miyatake K., Kawase I.,
RA   Zhao H., Tomiyama Y., Saeki Y., Nojima H.;
RT   "Isolation and expression profiling of genes upregulated in the peripheral
RT   blood cells of systemic lupus erythematosus patients.";
RL   DNA Res. 12:429-439(2005).
CC   -!- FUNCTION: Plays a role in M1 macrophage polarization and is required
CC       for the proper regulation of gene expression during M1 versus M2
CC       macrophage differentiation (By similarity). Might play a role in
CC       RELA/p65 and STAT1 phosphorylation and nuclear localization upon
CC       activation of macrophages (By similarity).
CC       {ECO:0000250|UniProtKB:Q8VDI1}.
CC   -!- INTERACTION:
CC       Q96J88-3; Q92993: KAT5; NbExp=3; IntAct=EBI-25885343, EBI-399080;
CC       Q96J88-3; Q8TAP4-4: LMO3; NbExp=3; IntAct=EBI-25885343, EBI-11742507;
CC       Q96J88-3; P17252: PRKCA; NbExp=3; IntAct=EBI-25885343, EBI-1383528;
CC       Q96J88-3; Q15047-2: SETDB1; NbExp=3; IntAct=EBI-25885343, EBI-9090795;
CC       Q96J88-3; P55072: VCP; NbExp=3; IntAct=EBI-25885343, EBI-355164;
CC       Q96J88-3; P61981: YWHAG; NbExp=3; IntAct=EBI-25885343, EBI-359832;
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=Q96J88-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q96J88-2; Sequence=VSP_030201;
CC       Name=3;
CC         IsoId=Q96J88-3; Sequence=VSP_030202;
CC   -!- TISSUE SPECIFICITY: Highly expressed in placenta, small intestine,
CC       spleen, kidney, thymus, liver, salivary gland and testes. Weakly
CC       expressed in breast, skeletal muscle and colon. Highly expressed in
CC       breast cancer upon interaction between tumor cells and stromal cells in
CC       vitro. Expressed in blood mononuclear cells from patients with systemic
CC       lupus erythematosus (SLE). {ECO:0000269|PubMed:11991720,
CC       ECO:0000269|PubMed:16769699}.
CC   -!- INDUCTION: Up-regulated in breast carcinomas.
CC       {ECO:0000269|PubMed:11991720}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=CAD38599.2; Type=Miscellaneous discrepancy; Note=Intron retention. Authors have ignored retained intron when translating.; Evidence={ECO:0000305};
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DR   EMBL; AF396928; AAK73753.1; -; mRNA.
DR   EMBL; AK292461; BAF85150.1; -; mRNA.
DR   EMBL; AL831953; CAD38599.2; ALT_SEQ; mRNA.
DR   EMBL; AL137878; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL445217; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471075; EAX08685.1; -; Genomic_DNA.
DR   EMBL; CH471075; EAX08686.1; -; Genomic_DNA.
DR   EMBL; BC023660; AAH23660.1; -; mRNA.
DR   CCDS; CCDS31964.1; -. [Q96J88-3]
DR   CCDS; CCDS81765.1; -. [Q96J88-1]
DR   CCDS; CCDS9387.1; -. [Q96J88-2]
DR   RefSeq; NP_001002264.1; NM_001002264.3. [Q96J88-3]
DR   RefSeq; NP_001317472.1; NM_001330543.1. [Q96J88-1]
DR   RefSeq; NP_001318157.1; NM_001331228.1.
DR   RefSeq; NP_150280.1; NM_033255.4. [Q96J88-2]
DR   AlphaFoldDB; Q96J88; -.
DR   SMR; Q96J88; -.
DR   BioGRID; 125151; 24.
DR   IntAct; Q96J88; 26.
DR   MINT; Q96J88; -.
DR   STRING; 9606.ENSP00000318982; -.
DR   GlyGen; Q96J88; 1 site, 1 O-linked glycan (1 site).
DR   iPTMnet; Q96J88; -.
DR   PhosphoSitePlus; Q96J88; -.
DR   BioMuta; EPSTI1; -.
DR   DMDM; 166232399; -.
DR   jPOST; Q96J88; -.
DR   MassIVE; Q96J88; -.
DR   MaxQB; Q96J88; -.
DR   PaxDb; 9606-ENSP00000318982; -.
DR   PeptideAtlas; Q96J88; -.
DR   ProteomicsDB; 76906; -. [Q96J88-1]
DR   ProteomicsDB; 76907; -. [Q96J88-2]
DR   ProteomicsDB; 76908; -. [Q96J88-3]
DR   Antibodypedia; 3005; 243 antibodies from 26 providers.
DR   DNASU; 94240; -.
DR   Ensembl; ENST00000313624.12; ENSP00000318643.7; ENSG00000133106.15. [Q96J88-2]
DR   Ensembl; ENST00000313640.11; ENSP00000318982.7; ENSG00000133106.15. [Q96J88-3]
DR   Ensembl; ENST00000398762.7; ENSP00000381746.3; ENSG00000133106.15. [Q96J88-1]
DR   GeneID; 94240; -.
DR   KEGG; hsa:94240; -.
DR   MANE-Select; ENST00000313624.12; ENSP00000318643.7; NM_033255.5; NP_150280.1. [Q96J88-2]
DR   UCSC; uc001uyw.3; human. [Q96J88-1]
DR   AGR; HGNC:16465; -.
DR   CTD; 94240; -.
DR   DisGeNET; 94240; -.
DR   GeneCards; EPSTI1; -.
DR   HGNC; HGNC:16465; EPSTI1.
DR   HPA; ENSG00000133106; Low tissue specificity.
DR   MIM; 607441; gene.
DR   neXtProt; NX_Q96J88; -.
DR   OpenTargets; ENSG00000133106; -.
DR   PharmGKB; PA27840; -.
DR   VEuPathDB; HostDB:ENSG00000133106; -.
DR   eggNOG; ENOG502S1G2; Eukaryota.
DR   GeneTree; ENSGT00390000013820; -.
DR   HOGENOM; CLU_058937_1_0_1; -.
DR   InParanoid; Q96J88; -.
DR   OMA; MNSANSW; -.
DR   OrthoDB; 4273805at2759; -.
DR   PhylomeDB; Q96J88; -.
DR   TreeFam; TF335788; -.
DR   PathwayCommons; Q96J88; -.
DR   Reactome; R-HSA-9696273; RND1 GTPase cycle.
DR   SignaLink; Q96J88; -.
DR   BioGRID-ORCS; 94240; 10 hits in 1141 CRISPR screens.
DR   ChiTaRS; EPSTI1; human.
DR   GenomeRNAi; 94240; -.
DR   Pharos; Q96J88; Tbio.
DR   PRO; PR:Q96J88; -.
DR   Proteomes; UP000005640; Chromosome 13.
DR   RNAct; Q96J88; Protein.
DR   Bgee; ENSG00000133106; Expressed in oocyte and 148 other cell types or tissues.
DR   ExpressionAtlas; Q96J88; baseline and differential.
DR   InterPro; IPR026185; EPSTI1.
DR   PANTHER; PTHR22529; EPITHELIAL-STROMAL INTERACTION PROTEIN 1; 1.
DR   PANTHER; PTHR22529:SF1; EPITHELIAL-STROMAL INTERACTION PROTEIN 1; 1.
DR   Genevisible; Q96J88; HS.
PE   1: Evidence at protein level;
KW   Alternative splicing; Coiled coil; Reference proteome.
FT   CHAIN           1..318
FT                   /note="Epithelial-stromal interaction protein 1"
FT                   /id="PRO_0000314034"
FT   REGION          1..60
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COILED          73..188
FT                   /evidence="ECO:0000255"
FT   COILED          240..280
FT                   /evidence="ECO:0000255"
FT   COMPBIAS        1..25
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   VAR_SEQ         219..229
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:11991720,
FT                   ECO:0000303|PubMed:14702039"
FT                   /id="VSP_030201"
FT   VAR_SEQ         318
FT                   /note="I -> SLLVFSRHLRVYEKILTPIWPSSTDLEKPHEMLFLNVILFSLTVFTL
FT                   ISTAHTLDRAVRSDWLLLVLIYACLEELIPELIFNLYCQGNATLFF (in isoform
FT                   3)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_030202"
FT   CONFLICT        83
FT                   /note="Missing (in Ref. 3; CAD38599)"
FT                   /evidence="ECO:0000305"
FT   VARIANT         Q96J88-3:338
FT                   /note="P -> S (in dbSNP:rs11557739)"
FT                   /evidence="ECO:0000305"
FT                   /id="VAR_082880"
FT   VARIANT         Q96J88-3:399
FT                   /note="N -> K (in dbSNP:rs1044856)"
FT                   /evidence="ECO:0000305"
FT                   /id="VAR_082881"
SQ   SEQUENCE   318 AA;  36793 MW;  28C04AE12042A01A CRC64;
     MNTRNRVVNS GLGASPASRP TRDPQDPSGR QGELSPVEDQ REGLEAAPKG PSRESVVHAG
     QRRTSAYTLI APNINRRNEI QRIAEQELAN LEKWKEQNRA KPVHLVPRRL GGSQSETEVR
     QKQQLQLMQS KYKQKLKREE SVRIKKEAEE AELQKMKAIQ REKSNKLEEK KRLQENLRRE
     AFREHQQYKT AEFLSKLNTE SPDRSACQSA VCGPQSSTWK LPILPRDHSW ARSWAYRDSL
     KAEENRKLQK MKDEQHQKSE LLELKRQQQE QERAKIHQTE HRRVNNAFLD RLQGKSQPGG
     LEQSGGCWNM NSGNSWGI
//