LOCUS       NM_001347995            2559 bp    mRNA    linear   PRI 05-DEC-2024
DEFINITION  Homo sapiens endosomal transmembrane epsin interactor 1 (ENTREP1),
            transcript variant 3, mRNA.
ACCESSION   NM_001347995 XM_005252307
VERSION     NM_001347995.2
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 2559)
  AUTHORS   Liu,J., Zhao,W., Luan,Y. and Tian,Z.
  TITLE     FAM189A2 plays a tumour suppressor role in lung adenocarcinoma by
            influencing cell apoptosis, CXCR4 expression and tight junction
            proteins
  JOURNAL   Tissue Cell 89, 102441 (2024)
   PUBMED   38878656
  REMARK    GeneRIF: FAM189A2 plays a tumour suppressor role in lung
            adenocarcinoma by influencing cell apoptosis, CXCR4 expression and
            tight junction proteins.
REFERENCE   2  (bases 1 to 2559)
  AUTHORS   Tsunoda,T., Riku,M., Yamada,N., Tsuchiya,H., Tomita,T., Suzuki,M.,
            Kizuki,M., Inoko,A., Ito,H., Murotani,K., Murakami,H., Saeki,Y. and
            Kasai,K.
  TITLE     ENTREP/FAM189A2 encodes a new ITCH ubiquitin ligase activator that
            is downregulated in breast cancer
  JOURNAL   EMBO Rep 23 (2), e51182 (2022)
   PUBMED   34927784
  REMARK    GeneRIF: ENTREP/FAM189A2 encodes a new ITCH ubiquitin ligase
            activator that is downregulated in breast cancer.
REFERENCE   3  (bases 1 to 2559)
  AUTHORS   Benz,C., Ali,M., Krystkowiak,I., Simonetti,L., Sayadi,A.,
            Mihalic,F., Kliche,J., Andersson,E., Jemth,P., Davey,N.E. and
            Ivarsson,Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   4  (bases 1 to 2559)
  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   5  (bases 1 to 2559)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2559)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   7  (bases 1 to 2559)
  AUTHORS   Lee,H.J., Woo,H.G., Greenwood,T.A., Kripke,D.F. and Kelsoe,J.R.
  TITLE     A genome-wide association study of seasonal pattern mania
            identifies NF1A as a possible susceptibility gene for bipolar
            disorder
  JOURNAL   J Affect Disord 145 (2), 200-207 (2013)
   PUBMED   22925353
REFERENCE   8  (bases 1 to 2559)
  AUTHORS   Humphray,S.J., Oliver,K., Hunt,A.R., Plumb,R.W., Loveland,J.E.,
            Howe,K.L., Andrews,T.D., Searle,S., Hunt,S.E., Scott,C.E.,
            Jones,M.C., Ainscough,R., Almeida,J.P., Ambrose,K.D., Ashwell,R.I.,
            Babbage,A.K., Babbage,S., Bagguley,C.L., Bailey,J., Banerjee,R.,
            Barker,D.J., Barlow,K.F., Bates,K., Beasley,H., Beasley,O.,
            Bird,C.P., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.,
            Burrill,W., Burton,J., Carder,C., Carter,N.P., Chapman,J.C.,
            Chen,Y., Clarke,G., Clark,S.Y., Clee,C.M., Clegg,S., Collier,R.E.,
            Corby,N., Crosier,M., Cummings,A.T., Davies,J., Dhami,P., Dunn,M.,
            Dutta,I., Dyer,L.W., Earthrowl,M.E., Faulkner,L., Fleming,C.J.,
            Frankish,A., Frankland,J.A., French,L., Fricker,D.G., Garner,P.,
            Garnett,J., Ghori,J., Gilbert,J.G., Glison,C., Grafham,D.V.,
            Gribble,S., Griffiths,C., Griffiths-Jones,S., Grocock,R., Guy,J.,
            Hall,R.E., Hammond,S., Harley,J.L., Harrison,E.S., Hart,E.A.,
            Heath,P.D., Henderson,C.D., Hopkins,B.L., Howard,P.J., Howden,P.J.,
            Huckle,E., Johnson,C., Johnson,D., Joy,A.A., Kay,M., Keenan,S.,
            Kershaw,J.K., Kimberley,A.M., King,A., Knights,A., Laird,G.K.,
            Langford,C., Lawlor,S., Leongamornlert,D.A., Leversha,M., Lloyd,C.,
            Lloyd,D.M., Lovell,J., Martin,S., Mashreghi-Mohammadi,M.,
            Matthews,L., McLaren,S., McLay,K.E., McMurray,A., Milne,S.,
            Nickerson,T., Nisbett,J., Nordsiek,G., Pearce,A.V., Peck,A.I.,
            Porter,K.M., Pandian,R., Pelan,S., Phillimore,B., Povey,S.,
            Ramsey,Y., Rand,V., Scharfe,M., Sehra,H.K., Shownkeen,R.,
            Sims,S.K., Skuce,C.D., Smith,M., Steward,C.A., Swarbreck,D.,
            Sycamore,N., Tester,J., Thorpe,A., Tracey,A., Tromans,A.,
            Thomas,D.W., Wall,M., Wallis,J.M., West,A.P., Whitehead,S.L.,
            Willey,D.L., Williams,S.A., Wilming,L., Wray,P.W., Young,L.,
            Ashurst,J.L., Coulson,A., Blocker,H., Durbin,R., Sulston,J.E.,
            Hubbard,T., Jackson,M.J., Bentley,D.R., Beck,S., Rogers,J. and
            Dunham,I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
REFERENCE   9  (bases 1 to 2559)
  AUTHORS   Duclos,F., Rodius,F., Wrogemann,K., Mandel,J.L. and Koenig,M.
  TITLE     The Friedreich ataxia region: characterization of two novel genes
            and reduction of the critical region to 300 kb
  JOURNAL   Hum Mol Genet 3 (6), 909-914 (1994)
   PUBMED   7951235
REFERENCE   10 (bases 1 to 2559)
  AUTHORS   Shearer,A.E., Hildebrand,M.S., Odell,A.M. and Smith,R.J.H.
  TITLE     Genetic Hearing Loss Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301607
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL355140.25.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Oct 8, 2020 this sequence version replaced NM_001347995.1.
            
            Transcript Variant: This variant (3) represents the longest
            transcript and encodes the longer isoform (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038192.2963608.1,
                                           SRR11853564.27212.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000303068.14/ ENSP00000304435.8
            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
            1-509               AL355140.25        33214-33722
            510-566             AL355140.25        44212-44268
            567-677             AL355140.25        79498-79608
            678-806             AL355140.25        83735-83863
            807-914             AL355140.25        85369-85476
            915-1048            AL355140.25        85610-85743
            1049-1178           AL355140.25        91629-91758
            1179-1257           AL355140.25        91946-92024
            1258-1410           AL355140.25        93794-93946
            1411-1703           AL355140.25        96157-96449
            1704-2559           AL355140.25        99600-100455
FEATURES             Location/Qualifiers
     source          1..2559
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q21.12"
     gene            1..2559
                     /gene="ENTREP1"
                     /gene_synonym="C9orf61; ENTREP; FAM189A2; X123"
                     /note="endosomal transmembrane epsin interactor 1"
                     /db_xref="GeneID:9413"
                     /db_xref="HGNC:HGNC:24820"
                     /db_xref="MIM:607710"
     exon            1..509
                     /gene="ENTREP1"
                     /gene_synonym="C9orf61; ENTREP; FAM189A2; X123"
                     /inference="alignment:Splign:2.1.0"
     CDS             96..1907
                     /gene="ENTREP1"
                     /gene_synonym="C9orf61; ENTREP; FAM189A2; X123"
                     /note="isoform a is encoded by transcript variant 3;
                     Friedreich ataxia region gene X123; Protein FAM189A2;
                     endosomal transmembrane binding with epsin; family with
                     sequence similarity 189 member A2"
                     /codon_start=1
                     /product="endosomal transmembrane epsin interactor 1
                     isoform a"
                     /protein_id="NP_001334924.1"
                     /db_xref="CCDS:CCDS87658.1"
                     /db_xref="GeneID:9413"
                     /db_xref="HGNC:HGNC:24820"
                     /db_xref="MIM:607710"
                     /translation="MSLPVVLPGSCCPVAGLSGGPQAGGPGAAAAAAQEPPLPPLRPR
                     WPRGALQPPSRPRCAATAAAGVLAAPPALSSRRAVAAAAAAAPGSALLPARPLLSLGL
                     LQLILGCCMVALSFGALSLSSSPQVKNSCPFWAGSSVILSGIIGLTTWKRPMILLVNL
                     FVLLSVVCVLLNLAGFILGCQGAQFVSSVPRCDLVDLGEGKICFCCEEFQPAKCTDKE
                     NALKLFPVQPCSAVHLLLKKVLFALCALNALTTTVCLVAAALRYLQIFATRRSCIDES
                     QISAEEAEDHGRIPDPDDFVPPVPPPSYFATFYSCTPRMNRRMVGPDVIPLPHIYGAR
                     IKGVEVFCPLDPPPPYEAVVSQMDQEQGSSFQMSEGSEAAVIPLDLGCTQVTQDGDIP
                     NIPAEENASTSTPSSTLVRPIRSRRALPPLRTRSKSDPVLHPSEERAAPVLSCEAATQ
                     TERRLDLAAVTLRRGLRSRASRCRPRSLIDYKSYMDTKLLVARFLEQSSCTMTPDIHE
                     LVENIKSVLKSDEEHMEEAITSASFLEQIMAPLQPSTSRAHKLPSRRQPGLLHLQSCG
                     DLHTFTPAGRPRAERRPRRVEAERPHSLIGVIRETVL"
     exon            510..566
                     /gene="ENTREP1"
                     /gene_synonym="C9orf61; ENTREP; FAM189A2; X123"
                     /inference="alignment:Splign:2.1.0"
     exon            567..677
                     /gene="ENTREP1"
                     /gene_synonym="C9orf61; ENTREP; FAM189A2; X123"
                     /inference="alignment:Splign:2.1.0"
     exon            678..806
                     /gene="ENTREP1"
                     /gene_synonym="C9orf61; ENTREP; FAM189A2; X123"
                     /inference="alignment:Splign:2.1.0"
     exon            807..914
                     /gene="ENTREP1"
                     /gene_synonym="C9orf61; ENTREP; FAM189A2; X123"
                     /inference="alignment:Splign:2.1.0"
     exon            915..1048
                     /gene="ENTREP1"
                     /gene_synonym="C9orf61; ENTREP; FAM189A2; X123"
                     /inference="alignment:Splign:2.1.0"
     exon            1049..1178
                     /gene="ENTREP1"
                     /gene_synonym="C9orf61; ENTREP; FAM189A2; X123"
                     /inference="alignment:Splign:2.1.0"
     exon            1179..1257
                     /gene="ENTREP1"
                     /gene_synonym="C9orf61; ENTREP; FAM189A2; X123"
                     /inference="alignment:Splign:2.1.0"
     exon            1258..1410
                     /gene="ENTREP1"
                     /gene_synonym="C9orf61; ENTREP; FAM189A2; X123"
                     /inference="alignment:Splign:2.1.0"
     exon            1411..1703
                     /gene="ENTREP1"
                     /gene_synonym="C9orf61; ENTREP; FAM189A2; X123"
                     /inference="alignment:Splign:2.1.0"
     exon            1704..2559
                     /gene="ENTREP1"
                     /gene_synonym="C9orf61; ENTREP; FAM189A2; X123"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2536..2541
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ENTREP1"
                     /gene_synonym="C9orf61; ENTREP; FAM189A2; X123"
                     /note="hexamer: AATAAA"
     polyA_site      2559
                     /gene="ENTREP1"
                     /gene_synonym="C9orf61; ENTREP; FAM189A2; X123"
                     /note="major polyA site"
ORIGIN      
        1 agtgcccagt gtgctgcgcc ttcggctcgg ctccgctccg cgtcctctgc ccgccgcagc
       61 cggccgcacc cggccgcacc cttccccgtc cgtccatgtc cctgcccgtg gtgctcccgg
      121 gctcctgctg ccccgtggct gggctttcgg gtgggccgca ggccgggggc ccgggcgccg
      181 ctgccgccgc cgctcaggag ccgccgctgc ccccgctgcg gccgcgctgg ccccggggcg
      241 cgctgcagcc cccgtcgcgg cctcgctgcg cggccaccgc tgctgccggg gtgctggccg
      301 cgccgccggc gctctcctcc cgccgggcag tcgccgccgc tgccgccgcg gccccgggct
      361 ccgcgctgct gcccgcccgc ccgctgctgt cacttgggct gcttcagctg atcttgggct
      421 gctgcatggt ggcgctcagc ttcggggcgc tgtcgctgag cagctccccg caggtgaaga
      481 actcgtgccc gttctgggcc ggctcctcgg tgatactctc tggaatcata ggattaacaa
      541 cttggaaaag gcctatgata ctcctggtaa acctctttgt gctgctctct gtggtttgtg
      601 tcctcttaaa tctagctgga tttatcctag gctgccaagg ggcccagttt gtgtccagcg
      661 tgcccaggtg tgatctggtg gacttaggtg aaggcaagat ttgcttctgt tgtgaagaat
      721 ttcaaccagc caagtgcaca gacaaagaaa atgccttgaa actctttccg gttcagccct
      781 gtagtgctgt tcaccttcta cttaagaaag tcctctttgc cctgtgtgcc ttgaatgccc
      841 tgaccaccac cgtctgcttg gtggccgctg ccctccgcta cctccagata ttcgcaacca
      901 ggagatcctg catcgatgaa tcccagattt ctgctgaaga agcggaggat catggacgca
      961 tccccgaccc tgatgatttt gtgccgcctg tgcctccccc ttcctatttt gccacgtttt
     1021 actcgtgcac accccggatg aaccgcagga tggttggtcc tgatgttatt cccctgccac
     1081 acatctacgg agctcgaatc aaaggtgtgg aagtgttctg tcctctggat cccccgccgc
     1141 catatgaagc tgtggtgagc cagatggacc aggagcaggg atcttcattc caaatgtcag
     1201 aaggatcaga agctgctgtg atcccattgg atctgggctg cacacaagtg actcaagatg
     1261 gggacattcc taacatacct gccgaagaaa atgcatccac ctcaactccc agttcaaccc
     1321 tggtgcgtcc tatcagaagc cggagagccc tcccaccctt gaggaccagg tcgaagagtg
     1381 accctgtgct ccatccttct gaggagagag ctgccccagt gctcagctgt gaagctgcaa
     1441 cacagactga aaggagactg gatctggctg cagtgactct gaggagaggc ttgagatcta
     1501 gagcttcgcg atgcagaccg cggtctttga tagattacaa atcctacatg gacaccaagc
     1561 tgctggtggc gaggttcctg gagcagtcct cttgtaccat gaccccagac atccatgaac
     1621 ttgtagaaaa cattaaatct gttttgaaat ctgatgagga gcacatggag gaagccatca
     1681 caagtgccag ttttctagaa cagataatgg ccccattgca gcccagcaca tccagggccc
     1741 acaagctgcc ctcgcggaga cagcctggcc tgctgcacct ccagagctgc ggcgaccttc
     1801 acaccttcac accagcgggg aggccccgag ccgagaggag gccccggcga gtggaggctg
     1861 agcggccaca cagcctcatt ggggtcatcc gagagactgt cctgtgaacc ctggaagaca
     1921 gaaggccact ccaaggggaa ggatccctct cctctctgcc atttcttggc tgggagctgt
     1981 ggtccacctc aaaaaaaagg agcactctgg aggacacgtt ttcccacctg ttggctcccg
     2041 tgtctgctga ctgagggcat tcaggagtaa atgcacaggt cggtccaggc ccgtctgggt
     2101 ttgggatgca ctgagttgga ggttatgaaa gctttgatcc tcttcttcct ctgctgggcc
     2161 tcgcagcatt cccaagggtc acatgccctg gcatgggcag aaactgggct aatgattctt
     2221 tgcccacttc acccctcgtg tctctctttg ttgctaagtt ctttccctct tggaaggaca
     2281 gatctgccgg gctgctattt atagttgcct ttggcctttc actgctctgc gatttggcag
     2341 gaaataaggc gattaaccct atgtgtccac aagcctcaag ccttgtttca ggtcaccctc
     2401 aaatcacact ctctttaggc aaaacaggaa acttcttaag tgacaaattt taatgccaga
     2461 catttaagga gaggattatt gttgattcca tttactcatg cttgcaaaac tagagacccc
     2521 taaggcagaa ctgagaataa acatgtttac tttgggcca
//
