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ENTD1_HUMAN
ID   ENTD1_HUMAN             Reviewed;         607 AA.
AC   Q8IYW4; B0QYD5; Q5H9F7; Q96LK3;
DT   04-DEC-2007, integrated into UniProtKB/Swiss-Prot.
DT   01-MAR-2003, sequence version 1.
DT   03-AUG-2022, entry version 138.
DE   RecName: Full=ENTH domain-containing protein 1;
DE   AltName: Full=Epsin-2B;
GN   Name=ENTHD1;
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].
RX   PubMed=15461802; DOI=10.1186/gb-2004-5-10-r84;
RA   Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A.,
RA   Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J.,
RA   Beare D.M., Dunham I.;
RT   "A genome annotation-driven approach to cloning the human ORFeome.";
RL   Genome Biol. 5:R84.1-R84.11(2004).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=10591208; DOI=10.1038/990031;
RA   Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M.,
RA   Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C.,
RA   Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E.,
RA   Bridgeman A.M., Buck D., Burgess J., Burrill W.D., Burton J., Carder C.,
RA   Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G.,
RA   Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V.,
RA   Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M.,
RA   Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A.,
RA   Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C.,
RA   Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E.,
RA   Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F.,
RA   Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M.,
RA   Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A.,
RA   Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D.,
RA   Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y.,
RA   Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S.,
RA   Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E.,
RA   Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L.,
RA   Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L.,
RA   Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N.,
RA   Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A.,
RA   Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L.,
RA   Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P.,
RA   Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P.,
RA   Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q.,
RA   Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J.,
RA   Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J.,
RA   Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D.,
RA   Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T.,
RA   Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P.,
RA   Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K.,
RA   Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
RA   Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L.,
RA   McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J.,
RA   Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E.,
RA   Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P.,
RA   Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y.,
RA   Wright H.;
RT   "The DNA sequence of human chromosome 22.";
RL   Nature 402:489-495(1999).
RN   [3]
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   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Testis;
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   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 357-607.
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).
CC   -!- INTERACTION:
CC       Q8IYW4; O95295: SNAPIN; NbExp=3; IntAct=EBI-20842218, EBI-296723;
CC   -!- SEQUENCE CAUTION:
CC       Sequence=BAB71688.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR   EMBL; CR456452; CAG30338.1; -; mRNA.
DR   EMBL; Z82206; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL022353; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL022319; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471095; EAW60353.1; -; Genomic_DNA.
DR   EMBL; BC033895; AAH33895.1; -; mRNA.
DR   EMBL; AK058150; BAB71688.1; ALT_INIT; mRNA.
DR   CCDS; CCDS13998.1; -.
DR   RefSeq; NP_689725.2; NM_152512.3.
DR   RefSeq; XP_006724212.1; XM_006724149.3.
DR   AlphaFoldDB; Q8IYW4; -.
DR   SMR; Q8IYW4; -.
DR   BioGRID; 127283; 42.
DR   IntAct; Q8IYW4; 3.
DR   STRING; 9606.ENSP00000317431; -.
DR   iPTMnet; Q8IYW4; -.
DR   PhosphoSitePlus; Q8IYW4; -.
DR   BioMuta; ENTHD1; -.
DR   DMDM; 74728393; -.
DR   jPOST; Q8IYW4; -.
DR   MassIVE; Q8IYW4; -.
DR   PaxDb; Q8IYW4; -.
DR   PeptideAtlas; Q8IYW4; -.
DR   PRIDE; Q8IYW4; -.
DR   ProteomicsDB; 71252; -.
DR   Antibodypedia; 12697; 86 antibodies from 17 providers.
DR   DNASU; 150350; -.
DR   Ensembl; ENST00000325157.7; ENSP00000317431.6; ENSG00000176177.10.
DR   GeneID; 150350; -.
DR   KEGG; hsa:150350; -.
DR   MANE-Select; ENST00000325157.7; ENSP00000317431.6; NM_152512.4; NP_689725.2.
DR   UCSC; uc003ayg.3; human.
DR   CTD; 150350; -.
DR   GeneCards; ENTHD1; -.
DR   HGNC; HGNC:26352; ENTHD1.
DR   HPA; ENSG00000176177; Tissue enriched (testis).
DR   neXtProt; NX_Q8IYW4; -.
DR   OpenTargets; ENSG00000176177; -.
DR   PharmGKB; PA145148940; -.
DR   VEuPathDB; HostDB:ENSG00000176177; -.
DR   eggNOG; KOG2056; Eukaryota.
DR   GeneTree; ENSGT00940000161730; -.
DR   HOGENOM; CLU_463044_0_0_1; -.
DR   InParanoid; Q8IYW4; -.
DR   OMA; IMNMLWH; -.
DR   OrthoDB; 1263849at2759; -.
DR   PhylomeDB; Q8IYW4; -.
DR   TreeFam; TF313361; -.
DR   PathwayCommons; Q8IYW4; -.
DR   SignaLink; Q8IYW4; -.
DR   BioGRID-ORCS; 150350; 8 hits in 1059 CRISPR screens.
DR   ChiTaRS; ENTHD1; human.
DR   GenomeRNAi; 150350; -.
DR   Pharos; Q8IYW4; Tdark.
DR   PRO; PR:Q8IYW4; -.
DR   Proteomes; UP000005640; Chromosome 22.
DR   RNAct; Q8IYW4; protein.
DR   Bgee; ENSG00000176177; Expressed in right testis and 45 other tissues.
DR   Genevisible; Q8IYW4; HS.
DR   GO; GO:0030125; C:clathrin vesicle coat; IBA:GO_Central.
DR   GO; GO:0005768; C:endosome; IBA:GO_Central.
DR   GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR   GO; GO:0030276; F:clathrin binding; IBA:GO_Central.
DR   GO; GO:0005543; F:phospholipid binding; IBA:GO_Central.
DR   GO; GO:0006897; P:endocytosis; IBA:GO_Central.
DR   Gene3D; 1.25.40.90; -; 1.
DR   InterPro; IPR013809; ENTH.
DR   InterPro; IPR008942; ENTH_VHS.
DR   Pfam; PF01417; ENTH; 1.
DR   SMART; SM00273; ENTH; 1.
DR   SUPFAM; SSF48464; SSF48464; 1.
DR   PROSITE; PS50942; ENTH; 1.
PE   1: Evidence at protein level;
KW   Coiled coil; Reference proteome.
FT   CHAIN           1..607
FT                   /note="ENTH domain-containing protein 1"
FT                   /id="PRO_0000312179"
FT   DOMAIN          9..141
FT                   /note="ENTH"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00243"
FT   COILED          543..574
FT                   /evidence="ECO:0000255"
FT   VARIANT         109
FT                   /note="I -> T (in dbSNP:rs17319801)"
FT                   /id="VAR_037449"
SQ   SEQUENCE   607 AA;  67538 MW;  0FB7FE674E54D4EF CRC64;
     MAFRRQVKNF VKNYSDAEIK VREATSNDPW GPSSSLMLDI SDLTFNTISL SEIMNMLWHR
     LNDHGKNWRH VYKSLTLMDY LIKNGSKKVI QHCREGFCNL QTLKDFQHID EAGKDQGYYI
     REKSKQVITL LMDEPLLCKE REVACRTRQR TSHSILFSKR QLGSSNSLTA CTSAPTPDIS
     ASEKKYKLPK FGRLHNKRNV CKAGLKQEHC QDVHLPTETM LSQETLPLKI HGWKSTEDLM
     TFLDDDPELP LLATPPSIVS PITCLSEAEE VCNLSGADAV PTLSENSPSG QRDVSLDKRS
     DGIFTNTVTE NLLETPLEKQ SAAEGLKTLT ILPACWSSKE EFISPDLRVS KSDSTFHNQA
     SVETLCLSPS FKIFDRVKEI VINKAYQKPA QSSIQMDDKI LKTTTRVSTA SEGASSFSPL
     SMSSPDLASP EKSAHLLSPI LAGPSFWTLS HQQLSSTSFK DEDKTAKLHH SFASRGPVSS
     DVEENDSLNL LGILPNNSDS AKKNISHISS SHWGEFSTQN VDQFIPLSCS GFQSTKDFPQ
     EPEAKNSISV LLREVKRAIA RLHEDLSTVI QELNVINNIL MSMSLNSSQI SQSSQVPQSS
     EGSSDQI
 
 
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