LOCUS       NM_152512               2680 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.
ACCESSION   NM_152512
VERSION     NM_152512.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2680)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 2680)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2680)
  AUTHORS   Davila,S., Froeling,F.E., Tan,A., Bonnard,C., Boland,G.J.,
            Snippe,H., Hibberd,M.L. and Seielstad,M.
  TITLE     New genetic associations detected in a host response study to
            hepatitis B vaccine
  JOURNAL   Genes Immun 11 (3), 232-238 (2010)
   PUBMED   20237496
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 2680)
  AUTHORS   Collins,J.E., Wright,C.L., Edwards,C.A., Davis,M.P., Grinham,J.A.,
            Cole,C.G., Goward,M.E., Aguado,B., Mallya,M., Mokrab,Y.,
            Huckle,E.J., Beare,D.M. and Dunham,I.
  TITLE     A genome annotation-driven approach to cloning the human ORFeome
  JOURNAL   Genome Biol 5 (10), R84 (2004)
   PUBMED   15461802
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC033895.2.
            
            On May 17, 2019 this sequence version replaced NM_152512.3.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC033895.2, SRR5189667.217338.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000325157.7/ ENSP00000317431.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2680              BC033895.2         31-2710
FEATURES             Location/Qualifiers
     source          1..2680
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.1"
     gene            1..2680
                     /gene="ENTHD1"
                     /gene_synonym="CACNA1I; dJ370M22.3"
                     /note="ENTH domain containing 1"
                     /db_xref="GeneID:150350"
                     /db_xref="HGNC:HGNC:26352"
     exon            1..66
                     /gene="ENTHD1"
                     /gene_synonym="CACNA1I; dJ370M22.3"
                     /inference="alignment:Splign:2.1.0"
     exon            67..570
                     /gene="ENTHD1"
                     /gene_synonym="CACNA1I; dJ370M22.3"
                     /inference="alignment:Splign:2.1.0"
     CDS             222..2045
                     /gene="ENTHD1"
                     /gene_synonym="CACNA1I; dJ370M22.3"
                     /note="dJ370M22.3 (EPSIN 2B); epsin-2B"
                     /codon_start=1
                     /product="ENTH domain-containing protein 1"
                     /protein_id="NP_689725.2"
                     /db_xref="CCDS:CCDS13998.1"
                     /db_xref="GeneID:150350"
                     /db_xref="HGNC:HGNC:26352"
                     /translation="MAFRRQVKNFVKNYSDAEIKVREATSNDPWGPSSSLMLDISDLT
                     FNTISLSEIMNMLWHRLNDHGKNWRHVYKSLTLMDYLIKNGSKKVIQHCREGFCNLQT
                     LKDFQHIDEAGKDQGYYIREKSKQVITLLMDEPLLCKEREVACRTRQRTSHSILFSKR
                     QLGSSNSLTACTSAPTPDISASEKKYKLPKFGRLHNKRNVCKAGLKQEHCQDVHLPTE
                     TMLSQETLPLKIHGWKSTEDLMTFLDDDPELPLLATPPSIVSPITCLSEAEEVCNLSG
                     ADAVPTLSENSPSGQRDVSLDKRSDGIFTNTVTENLLETPLEKQSAAEGLKTLTILPA
                     CWSSKEEFISPDLRVSKSDSTFHNQASVETLCLSPSFKIFDRVKEIVINKAYQKPAQS
                     SIQMDDKILKTTTRVSTASEGASSFSPLSMSSPDLASPEKSAHLLSPILAGPSFWTLS
                     HQQLSSTSFKDEDKTAKLHHSFASRGPVSSDVEENDSLNLLGILPNNSDSAKKNISHI
                     SSSHWGEFSTQNVDQFIPLSCSGFQSTKDFPQEPEAKNSISVLLREVKRAIARLHEDL
                     STVIQELNVINNILMSMSLNSSQISQSSQVPQSSEGSSDQI"
     exon            571..813
                     /gene="ENTHD1"
                     /gene_synonym="CACNA1I; dJ370M22.3"
                     /inference="alignment:Splign:2.1.0"
     exon            814..932
                     /gene="ENTHD1"
                     /gene_synonym="CACNA1I; dJ370M22.3"
                     /inference="alignment:Splign:2.1.0"
     exon            933..1053
                     /gene="ENTHD1"
                     /gene_synonym="CACNA1I; dJ370M22.3"
                     /inference="alignment:Splign:2.1.0"
     exon            1054..1440
                     /gene="ENTHD1"
                     /gene_synonym="CACNA1I; dJ370M22.3"
                     /inference="alignment:Splign:2.1.0"
     exon            1441..2680
                     /gene="ENTHD1"
                     /gene_synonym="CACNA1I; dJ370M22.3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2661..2666
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ENTHD1"
                     /gene_synonym="CACNA1I; dJ370M22.3"
                     /note="hexamer: AATAAA"
     polyA_site      2680
                     /gene="ENTHD1"
                     /gene_synonym="CACNA1I; dJ370M22.3"
                     /note="major polyA site"
ORIGIN      
        1 ggagtaggtg gaatatcctg gggagaggaa gtttggtcgt tgggcagcgg ccgactttcc
       61 tctcaggaaa ttgatacttt atcaacatag agattaatta tttgtatttg ggagcagcag
      121 aactggggac caattacctg tcaagagttt tataaacccg tgacataaac tgttattcca
      181 ttgctttcat cctccatctc accttggaac ttgtattact tatggcgttc aggagacaag
      241 tgaaaaactt tgtgaaaaat tactcagatg ctgaaataaa agtcagggaa gcaacttcta
      301 acgacccttg gggtccctct agttctctga tgttagatat cagtgacttg actttcaaca
      361 caatttctct ctcagagatt atgaatatgc tgtggcacag actcaatgac catgggaaga
      421 actggcgcca cgtgtataaa tcccttaccc taatggatta tctcatcaag aatggatcaa
      481 agaaagttat tcagcattgc agagaggggt tctgtaacct tcaaacacta aaagattttc
      541 agcacataga tgaagctgga aaagaccaag gttattatat ccgggaaaaa tctaagcaag
      601 tcatcacatt gctgatggat gaaccattgc tgtgtaaaga gagggaagtg gcatgtcgga
      661 ctagacagcg tacctcccac tctatattgt tttctaaaag acaacttggt tcaagtaact
      721 cactgacagc gtgcacttct gcccccacac cggatatttc tgcttcagag aagaagtata
      781 agcttcctaa gtttggaagg ttacataata aaagaaatgt gtgcaaggca ggattgaaac
      841 aagagcattg ccaagatgtt catttgccta cagaaactat gttgtcccag gaaacacttc
      901 cactcaagat tcatggttgg aaatcaacag aggacctgat gacatttttg gatgatgatc
      961 cagagctgcc tttactagca acacctcctt ccattgtctc tccaatcact tgcttgtcag
     1021 aagcagaaga agtttgtaat ctttcgggtg cagatgctgt gcctactctc tcagaaaata
     1081 gtccttctgg gcagagagat gtgagtttgg acaagagatc agatggtatc tttacaaata
     1141 ctgtcacaga aaacctcttg gaaacacctt tagaaaagca atcagctgca gaaggtctta
     1201 aaacattgac aattttacca gcatgttggt caagtaaaga ggagtttatc agccccgact
     1261 taagggtatc aaagtcagat tctactttcc ataaccaggc ctctgtagaa acactctgtc
     1321 tctctccctc attcaaaata tttgaccgag tgaaggagat tgtaatcaac aaggcctacc
     1381 agaaaccagc acaatccagc attcagatgg atgataaaat cctcaagaca accacacggg
     1441 tttcaactgc ttctgaggga gcatcttcct tttctccttt atccatgtca tctcctgatt
     1501 tagcctctcc agagaagtca gctcatctct tatcaccaat tctggccgga ccttccttct
     1561 ggactctgtc ccatcaacag ttgtcttcta cctcctttaa agatgaagat aagacagcca
     1621 agctgcatca ctcctttgct tctaggggcc cagtgtcttc tgatgtagag gaaaatgata
     1681 gcctcaatct actgggaatt cttccaaata actctgattc tgctaaaaag aatataagtc
     1741 acatttctag tagtcactgg ggggagtttt ccacccaaaa tgtagaccag ttcatccctc
     1801 tgtcctgttc tggttttcag tcaaccaaag acttccccca ggaacctgaa gcaaagaatt
     1861 ccattagtgt tcttttaagg gaggtaaaac gtgcgatcgc tagattacat gaagatctga
     1921 gcacagtgat ccaagaactt aatgtcatca ataacatctt gatgagcatg agtctgaata
     1981 gttcacaaat aagccagtct tcccaggtcc cccagtcttc tgaggggagc tcagatcaga
     2041 tctaatcatc acaatatcta tttttgatag aactcgtgtg gttccacttc cccaagactt
     2101 acgttagcat tgtataaatt catattatta tggcaaaaaa ggggatggtt taatttttcc
     2161 ttgtcaggtt tattagcaag tatctttcaa actaatactt tcatttgggt ggtttatttt
     2221 ttaaaaggga aagatgtcac ctttgataat ttcagattta gatattagtt catttgaaac
     2281 agaagagaat ttcattcttt catgctctgt acctcaaatg ggttaagcat tagtgaaaat
     2341 tgtggtaaga cctcaaactg caaatgacta ttcaagagct tttggataag gaggcaggaa
     2401 gaagctcttt atctttcaac tgtatggagc ttgttaacaa gcctctgagg tgacctagga
     2461 ggattgagtt tgggggtata catttcacac attcttttgc aagttttagg ttctgcaacc
     2521 aagggccaga aatcttttct ttcttccaga tgctagtgtt aggagttaaa tggaaacaag
     2581 aaggacatgg ggcaaatgtt tttactgtca atgtatattg caaggtgaat tcaaatgcat
     2641 ccttttattc tacttcagaa aataaatttg atatttttca
//
