LOCUS       NM_015509               2634 bp    mRNA    linear   PRI 07-FEB-2025
DEFINITION  Homo sapiens NECAP endocytosis associated 1 (NECAP1), transcript
            variant 1, mRNA.
ACCESSION   NM_015509
VERSION     NM_015509.4
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 2634)
  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   2  (bases 1 to 2634)
  AUTHORS   Wrobel,A.G., Kadlecova,Z., Kamenicky,J., Yang,J.C., Herrmann,T.,
            Kelly,B.T., McCoy,A.J., Evans,P.R., Martin,S., Muller,S.,
            Salomon,S., Sroubek,F., Neuhaus,D., Honing,S. and Owen,D.J.
  TITLE     Temporal Ordering in Endocytic Clathrin-Coated Vesicle Formation
            via AP2 Phosphorylation
  JOURNAL   Dev Cell 50 (4), 494-508 (2019)
   PUBMED   31430451
  REMARK    GeneRIF: NECAP recruits drivers of late stages of clathrin-coated
            pit (CCP) formation, including SNX9, via a site distinct from where
            NECAP binds AP2.
            Erratum:[Dev Cell. 2020 Mar 9;52(5):673. doi:
            10.1016/j.devcel.2020.02.010.. PMID: 32155440]
REFERENCE   3  (bases 1 to 2634)
  AUTHORS   Alazami,A.M., Hijazi,H., Kentab,A.Y. and Alkuraya,F.S.
  TITLE     NECAP1 loss of function leads to a severe infantile epileptic
            encephalopathy
  JOURNAL   J Med Genet 51 (4), 224-228 (2014)
   PUBMED   24399846
  REMARK    GeneRIF: NECAP1 mutation links trafficking pathway in early
            infantile epileptic encephalopathy.
REFERENCE   4  (bases 1 to 2634)
  AUTHORS   Murshid,A., Srivastava,A., Kumar,R. and Presley,J.F.
  TITLE     Characterization of the localization and function of NECAP 1 in
            neurons
  JOURNAL   J Neurochem 98 (6), 1746-1762 (2006)
   PUBMED   16879712
REFERENCE   5  (bases 1 to 2634)
  AUTHORS   Ritter,B., Blondeau,F., Denisov,A.Y., Gehring,K. and McPherson,P.S.
  TITLE     Molecular mechanisms in clathrin-mediated membrane budding revealed
            through subcellular proteomics
  JOURNAL   Biochem Soc Trans 32 (Pt 5), 769-773 (2004)
   PUBMED   15494011
  REMARK    Review article
REFERENCE   6  (bases 1 to 2634)
  AUTHORS   Mishra,S.K., Hawryluk,M.J., Brett,T.J., Keyel,P.A., Dupin,A.L.,
            Jha,A., Heuser,J.E., Fremont,D.H. and Traub,L.M.
  TITLE     Dual engagement regulation of protein interactions with the AP-2
            adaptor alpha appendage
  JOURNAL   J Biol Chem 279 (44), 46191-46203 (2004)
   PUBMED   15292237
REFERENCE   7  (bases 1 to 2634)
  AUTHORS   Ritter,B., Philie,J., Girard,M., Tung,E.C., Blondeau,F. and
            McPherson,P.S.
  TITLE     Identification of a family of endocytic proteins that define a new
            alpha-adaptin ear-binding motif
  JOURNAL   EMBO Rep 4 (11), 1089-1095 (2003)
   PUBMED   14555962
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC006511.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_015509.3.
            
            Summary: This gene encodes a protein containing two characteristic
            WXXF motifs. The encoded protein localizes to clathrin-coated
            vesicles, where it binds components of the adapter protein
            complexes and aids in endocytosis. Loss of function of this gene
            results in early infantile epileptic encephalopathy-21. There is a
            pseudogene for this gene on chromosome 7. Alternative splicing
            results in multiple transcript variants. [provided by RefSeq, Jun
            2014].
            
            Transcript Variant: This variant (1) encodes a functional protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.269232.1,
                                           SRR1660805.153748.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000339754.11/ ENSP00000341737.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-110               AC006511.5         48036-48145         c
            111-211             AC006511.5         40383-40483         c
            212-316             AC006511.5         40120-40224         c
            317-398             AC006511.5         38569-38650         c
            399-507             AC006511.5         37635-37743         c
            508-691             AC006511.5         37364-37547         c
            692-794             AC006511.5         34716-34818         c
            795-2634            AC006511.5         32538-34377         c
FEATURES             Location/Qualifiers
     source          1..2634
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     gene            1..2634
                     /gene="NECAP1"
                     /gene_synonym="DEE21; EIEE21"
                     /note="NECAP endocytosis associated 1"
                     /db_xref="GeneID:25977"
                     /db_xref="HGNC:HGNC:24539"
                     /db_xref="MIM:611623"
     exon            1..110
                     /gene="NECAP1"
                     /gene_synonym="DEE21; EIEE21"
                     /inference="alignment:Splign:2.1.0"
     CDS             16..843
                     /gene="NECAP1"
                     /gene_synonym="DEE21; EIEE21"
                     /codon_start=1
                     /product="adaptin ear-binding coat-associated protein 1"
                     /protein_id="NP_056324.2"
                     /db_xref="CCDS:CCDS8589.1"
                     /db_xref="GeneID:25977"
                     /db_xref="HGNC:HGNC:24539"
                     /db_xref="MIM:611623"
                     /translation="MATELEYESVLCVKPDVSVYRIPPRASNRGYRASDWKLDQPDWT
                     GRLRITSKGKTAYIKLEDKVSGELFAQAPVEQYPGIAVETVTDSSRYFVIRIQDGTGR
                     SAFIGIGFTDRGDAFDFNVSLQDHFKWVKQESEISKESQEMDARPKLDLGFKEGQTIK
                     LCIGNITNKKGGASKPRTARGGGLSLLPPPPGGKVTIPPPSSSVAISNHVTPPPIPKS
                     NHGGSDADILLDLDSPAPVTTPAPTPVSVSNDLWGDFSTASSSVPNQAPQPSNWVQF"
     exon            111..211
                     /gene="NECAP1"
                     /gene_synonym="DEE21; EIEE21"
                     /inference="alignment:Splign:2.1.0"
     exon            212..316
                     /gene="NECAP1"
                     /gene_synonym="DEE21; EIEE21"
                     /inference="alignment:Splign:2.1.0"
     exon            317..398
                     /gene="NECAP1"
                     /gene_synonym="DEE21; EIEE21"
                     /inference="alignment:Splign:2.1.0"
     exon            399..507
                     /gene="NECAP1"
                     /gene_synonym="DEE21; EIEE21"
                     /inference="alignment:Splign:2.1.0"
     exon            508..691
                     /gene="NECAP1"
                     /gene_synonym="DEE21; EIEE21"
                     /inference="alignment:Splign:2.1.0"
     exon            692..794
                     /gene="NECAP1"
                     /gene_synonym="DEE21; EIEE21"
                     /inference="alignment:Splign:2.1.0"
     exon            795..2634
                     /gene="NECAP1"
                     /gene_synonym="DEE21; EIEE21"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2504..2509
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NECAP1"
                     /gene_synonym="DEE21; EIEE21"
                     /note="hexamer: ATTAAA"
     polyA_site      2524
                     /gene="NECAP1"
                     /gene_synonym="DEE21; EIEE21"
                     /note="major polyA site"
     regulatory      2600..2605
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NECAP1"
                     /gene_synonym="DEE21; EIEE21"
                     /note="hexamer: AATAAA"
     polyA_site      2634
                     /gene="NECAP1"
                     /gene_synonym="DEE21; EIEE21"
ORIGIN      
        1 gacagcggac ccaagatggc gaccgagttg gagtacgagt ctgtgctgtg tgtgaagcca
       61 gacgtcagcg tctaccggat tccgccccgg gcctccaacc gcggttacag ggcctctgac
      121 tggaaattag accagcctga ttggactggt cgcctccgaa tcacttcaaa agggaagact
      181 gcctatatca aactcgagga taaagtttca ggggagctct ttgctcaggc accagtagaa
      241 caatatcctg gtattgctgt ggagacggtg acagattcta gccgctactt tgtaatccgg
      301 atccaggatg gtactgggcg cagtgctttc attggcattg gcttcacaga tcggggagat
      361 gccttcgact ttaatgtctc cttgcaggat cacttcaagt gggtaaagca ggaatctgag
      421 atttccaagg aatctcaaga aatggatgct cgtcctaagt tggatctggg cttcaaggaa
      481 ggacaaacca tcaagttgtg tatcgggaac attacaaaca agaaaggagg tgcttctaag
      541 cccaggactg caaggggtgg gggtctgagc ttactcccac ccccgccagg aggcaaagtc
      601 actattcccc caccatcctc ctcagttgcc atcagcaatc atgtcacccc accacccatt
      661 ccgaaatcta accatggagg cagtgatgca gatatccttt tagatttgga ttctcctgct
      721 cctgtcacga caccagcacc aactccagtt tctgtaagca atgacttgtg gggagacttc
      781 agcactgcct ccagctctgt tccaaaccag gcaccacagc catccaactg ggtccagttc
      841 tgaatggcat tggcaggaca ttaaggacag acttgaggaa taaaaatgac cttgagggca
      901 ccaatctgtg agggaagtta ggaacccatt tcctccccag aaccagaatg actggacaat
      961 ctttttcata gcttctccat cacattcaag ctggtttatg tcactcccct gtgttgttac
     1021 ttgtacagcc aagaaagtat ctgttatctc ctgcgtagta ccaaggtagg ggactagtgg
     1081 atcttatcat agttttggct gactatgcag ggcttaaaag gccagcgtct gtttgagggg
     1141 gaatgacctc taacatctgt aaaatttgtc tcatctttta atttctttaa cttatttcaa
     1201 aatcatctca tgacccttgt gtgcctcttt gtgaagccct atttagcaat ttcaggggag
     1261 tcaaaaacct tgcaacttcc ttctccacta acccaggact aaaaatggac aggctgacct
     1321 cagtgtttac aaattcagaa ttttgatagg ggtagatatg gagaaagacc tatttcctgg
     1381 gtctctgctg tgtagtctcc ttcaggctta ttgtgctcag tgaacatcca gtgctgggtg
     1441 cagctccatc accctcttgt gtgtttacat gtctctttct atgataagag ggttgtgttg
     1501 gtggcacctc cactactctt ttctgtttgt tgagtttgaa ttgtgttaac atctttgatc
     1561 agtgggtgta tctgtaatga aggaggttca agaggctgtg ctttccaagt gatagtctat
     1621 aggagtgttt aatttcttgc agctccatct ggttgctgca tttgaagcat ggcattaatt
     1681 tgtatttgcc ctgttctttg acctaaagtt gaagggttta gagtttttaa cctgatctgt
     1741 agagcagaga ggttgaaagc acttaactct tgtttagtat cctcattgcc ttgctgcctg
     1801 ggtatctggc ccctttccat aaacatttct tttcagttca tgtagttctt taatagaaag
     1861 ctgctattat gtatattgtc atttgtgaag gaagttggag agtcacagct ttactgtgac
     1921 aggttttgcc caaggctttg atacctgtca cccagggtat cttaaaagca agttgttctc
     1981 ccactacttt cctttccctc tgccctgcca ttcctattac aatgctgtga aaaaagttct
     2041 gcttcttagg tgaatgggta ctttctattt tgtttctaaa cgagcaattt tgaggatgaa
     2101 atgggaagat atcattgctt cctttttgca cctattgggt atgtacactc tggccgaagg
     2161 gagtccttat gtttagtttc aaaatatatt actttcctgg attctcttct tcactttttc
     2221 tgactttggg tccattttct tttcattgcc tccttttcca ggcagctcta ttcttgcaga
     2281 gccatagcag gacatgttaa aattccaata gaaaacacta aaaggaaagt ctgtggaatc
     2341 actagtgact aaatactggg aacctatttt ctcaatcttc ctccatgttg tgttctttgt
     2401 attcttgaga tgataatata ttatgtattt gaattcctga aaaatggaaa atgtttaaga
     2461 tatatgtata taaagtgtat gctgtattgg tgcaataatg gtaattaaaa atatgaaaaa
     2521 agtgtctctt ttatctttta atttgcttat ttgattacct tttaaattta attgaccaaa
     2581 tataagtgga ccagtagtta ataaaggata tttatatcac tctttattaa gaaa
//
