EEPD1_HUMAN
ID EEPD1_HUMAN Reviewed; 569 AA.
AC Q7L9B9; Q96K64; Q9C0F7;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 149.
DE RecName: Full=Endonuclease/exonuclease/phosphatase family domain-containing protein 1;
GN Name=EEPD1; Synonyms=KIAA1706;
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 MRNA], AND VARIANT ASN-343.
RC TISSUE=Brain;
RX PubMed=11214970; DOI=10.1093/dnares/7.6.347;
RA Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XIX. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:347-355(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ASN-343.
RC TISSUE=Mammary gland;
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 GENOMIC DNA], AND VARIANT ASN-343.
RX PubMed=12690205; DOI=10.1126/science.1083423;
RA Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K.,
RA Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R.,
RA Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A.,
RA Kanematsu E., Gentles S., Christopoulos C.C., Choufani S., Kwasnicka D.,
RA Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S.,
RA Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R.,
RA Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N.,
RA Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E.,
RA Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R.,
RA Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T.,
RA Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W.,
RA Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A.,
RA Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X.,
RA Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E.,
RA Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H.,
RA Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J.,
RA Adams M.D., Tsui L.-C.;
RT "Human chromosome 7: DNA sequence and biology.";
RL Science 300:767-772(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT ASN-343.
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ASN-343.
RC TISSUE=Blood;
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 [6]
RP MYRISTOYLATION AT GLY-2.
RX PubMed=20213681; DOI=10.1002/pmic.200900783;
RA Suzuki T., Moriya K., Nagatoshi K., Ota Y., Ezure T., Ando E.,
RA Tsunasawa S., Utsumi T.;
RT "Strategy for comprehensive identification of human N-myristoylated
RT proteins using an insect cell-free protein synthesis system.";
RL Proteomics 10:1780-1793(2010).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-25; SER-160; SER-173 AND
RP SER-428, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-16; SER-110; SER-160 AND
RP SER-173, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
CC -!- INTERACTION:
CC Q7L9B9; Q9Y3R0-3: GRIP1; NbExp=3; IntAct=EBI-12262046, EBI-12193965;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB21797.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AB051493; BAB21797.1; ALT_INIT; mRNA.
DR EMBL; AK027386; BAB55076.1; -; mRNA.
DR EMBL; AC007327; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC078841; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH236951; EAL23976.1; -; Genomic_DNA.
DR EMBL; CH471073; EAW94063.1; -; Genomic_DNA.
DR EMBL; BC065518; AAH65518.1; -; mRNA.
DR CCDS; CCDS34619.1; -.
DR RefSeq; NP_085139.2; NM_030636.2.
DR AlphaFoldDB; Q7L9B9; -.
DR BioGRID; 123317; 30.
DR ELM; Q7L9B9; -.
DR IntAct; Q7L9B9; 12.
DR STRING; 9606.ENSP00000242108; -.
DR iPTMnet; Q7L9B9; -.
DR PhosphoSitePlus; Q7L9B9; -.
DR SwissPalm; Q7L9B9; -.
DR BioMuta; EEPD1; -.
DR DMDM; 296434489; -.
DR EPD; Q7L9B9; -.
DR jPOST; Q7L9B9; -.
DR MassIVE; Q7L9B9; -.
DR MaxQB; Q7L9B9; -.
DR PaxDb; Q7L9B9; -.
DR PeptideAtlas; Q7L9B9; -.
DR PRIDE; Q7L9B9; -.
DR ProteomicsDB; 68844; -.
DR Antibodypedia; 26526; 98 antibodies from 19 providers.
DR DNASU; 80820; -.
DR Ensembl; ENST00000242108.9; ENSP00000242108.4; ENSG00000122547.11.
DR Ensembl; ENST00000534978.1; ENSP00000442692.1; ENSG00000122547.11.
DR GeneID; 80820; -.
DR KEGG; hsa:80820; -.
DR MANE-Select; ENST00000242108.9; ENSP00000242108.4; NM_030636.3; NP_085139.2.
DR UCSC; uc003tfa.4; human.
DR CTD; 80820; -.
DR DisGeNET; 80820; -.
DR GeneCards; EEPD1; -.
DR HGNC; HGNC:22223; EEPD1.
DR HPA; ENSG00000122547; Tissue enhanced (skeletal).
DR neXtProt; NX_Q7L9B9; -.
DR OpenTargets; ENSG00000122547; -.
DR PharmGKB; PA162384303; -.
DR VEuPathDB; HostDB:ENSG00000122547; -.
DR eggNOG; KOG1857; Eukaryota.
DR GeneTree; ENSGT00390000009677; -.
DR HOGENOM; CLU_033721_1_0_1; -.
DR InParanoid; Q7L9B9; -.
DR OMA; VRVATWS; -.
DR OrthoDB; 814192at2759; -.
DR PhylomeDB; Q7L9B9; -.
DR TreeFam; TF328735; -.
DR PathwayCommons; Q7L9B9; -.
DR Reactome; R-HSA-9029569; NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux.
DR SignaLink; Q7L9B9; -.
DR BioGRID-ORCS; 80820; 10 hits in 1071 CRISPR screens.
DR ChiTaRS; EEPD1; human.
DR GenomeRNAi; 80820; -.
DR Pharos; Q7L9B9; Tbio.
DR PRO; PR:Q7L9B9; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q7L9B9; protein.
DR Bgee; ENSG00000122547; Expressed in ventricular zone and 142 other tissues.
DR ExpressionAtlas; Q7L9B9; baseline and differential.
DR Genevisible; Q7L9B9; HS.
DR GO; GO:0046658; C:anchored component of plasma membrane; IMP:BHF-UCL.
DR GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR GO; GO:0003677; F:DNA binding; IEA:InterPro.
DR GO; GO:0006281; P:DNA repair; IEA:InterPro.
DR GO; GO:0010875; P:positive regulation of cholesterol efflux; IMP:BHF-UCL.
DR Gene3D; 3.60.10.10; -; 1.
DR InterPro; IPR004509; Competence_ComEA_HhH.
DR InterPro; IPR036691; Endo/exonu/phosph_ase_sf.
DR InterPro; IPR003583; Hlx-hairpin-Hlx_DNA-bd_motif.
DR InterPro; IPR010994; RuvA_2-like.
DR SMART; SM00278; HhH1; 3.
DR SUPFAM; SSF47781; SSF47781; 2.
DR SUPFAM; SSF56219; SSF56219; 1.
DR TIGRFAMs; TIGR00426; TIGR00426; 1.
PE 1: Evidence at protein level;
KW Lipoprotein; Myristate; Phosphoprotein; Reference proteome.
FT INIT_MET 1
FT /note="Removed"
FT CHAIN 2..569
FT /note="Endonuclease/exonuclease/phosphatase family domain-
FT containing protein 1"
FT /id="PRO_0000317261"
FT DOMAIN 38..67
FT /note="HhH"
FT REGION 1..20
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 200..225
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 545..569
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 16
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT MOD_RES 21
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q5XI74"
FT MOD_RES 25
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 106
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q3TGW2"
FT MOD_RES 110
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT MOD_RES 160
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163,
FT ECO:0007744|PubMed:24275569"
FT MOD_RES 173
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163,
FT ECO:0007744|PubMed:24275569"
FT MOD_RES 265
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q3TGW2"
FT MOD_RES 428
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT LIPID 2
FT /note="N-myristoyl glycine"
FT /evidence="ECO:0000269|PubMed:20213681"
FT VARIANT 343
FT /note="S -> N (in dbSNP:rs196586)"
FT /evidence="ECO:0000269|PubMed:11214970,
FT ECO:0000269|PubMed:12690205, ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4"
FT /id="VAR_060374"
FT VARIANT 358
FT /note="A -> S (in dbSNP:rs3815682)"
FT /id="VAR_056867"
FT VARIANT 416
FT /note="P -> S (in dbSNP:rs196594)"
FT /id="VAR_056868"
SQ SEQUENCE 569 AA; 62403 MW; 6A1C1D106583E670 CRC64;
MGSTLGCHRS IPRDPSDLSH SRKFSAACNF SNILVNQERL NINTATEEEL MTLPGVTRAV
ARSIVEYREY IGGFKKVEDL ALVSGVGATK LEQVKFEICV SSKGSSAQHS PSSLRRDLLA
EQQPHHLATA VPLTPRVNIN TATPAQLMSV RGLSEKMALS IVDFRREHGP FRSVEDLVRM
DGINAAFLDR IRHQVFAERS RPPSTHTNGG LTFTAKPHPS PTSLSLQSED LDLPPGGPTQ
IISTRPSVEA FGGTRDGRPV LRLATWNLQG CSVEKANNPG VREVVCMTLL ENSIKLLAVQ
ELLDREALEK FCTELNQPTL PNIRKWKGPR GCWKAVVAEK PSSQLQKGAG YAGFLWDAAA
GMELRDAGSQ ESSPSNGHGK LAGPSPYLGR FKVGSHDLTL VNLHLAALTL LGSENPSKNH
SDGHRLASFA QTLQETLKGE KDVIILGDFG QGPDSNDYDI LRKEKFHHLI PAHTFTNIST
KNPQGSKSLD NIWISKSLKK VFTGHWAVVR EGLTNPWIPD NWSWGGVASE HCPVLAEFYT
EKDWSKKDAP RNGSGVALER SEANIKHER
