ESIP1_HUMAN
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 03-AUG-2022, entry version 133.
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; 23.
DR IntAct; Q96J88; 26.
DR MINT; Q96J88; -.
DR STRING; 9606.ENSP00000318982; -.
DR iPTMnet; Q96J88; -.
DR PhosphoSitePlus; Q96J88; -.
DR BioMuta; EPSTI1; -.
DR DMDM; 166232399; -.
DR jPOST; Q96J88; -.
DR MassIVE; Q96J88; -.
DR MaxQB; Q96J88; -.
DR PaxDb; Q96J88; -.
DR PeptideAtlas; Q96J88; -.
DR PRIDE; Q96J88; -.
DR ProteomicsDB; 76906; -. [Q96J88-1]
DR ProteomicsDB; 76907; -. [Q96J88-2]
DR ProteomicsDB; 76908; -. [Q96J88-3]
DR Antibodypedia; 3005; 216 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 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; SGGYWNM; -.
DR OrthoDB; 1284389at2759; -.
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 1063 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 146 other tissues.
DR ExpressionAtlas; Q96J88; baseline and differential.
DR Genevisible; Q96J88; HS.
DR InterPro; IPR026185; EPSTI1.
DR PANTHER; PTHR22529; PTHR22529; 1.
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
