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