LOCUS       NM_031941               3289 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens USH1 protein network component harmonin binding
            protein 1 (USHBP1), transcript variant 1, mRNA.
ACCESSION   NM_031941
VERSION     NM_031941.4
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 3289)
  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 3289)
  AUTHORS   Zhong,Q., Pevzner,S.J., Hao,T., Wang,Y., Mosca,R., Menche,J.,
            Taipale,M., Tasan,M., Fan,C., Yang,X., Haley,P., Murray,R.R.,
            Mer,F., Gebreab,F., Tam,S., MacWilliams,A., Dricot,A., Reichert,P.,
            Santhanam,B., Ghamsari,L., Calderwood,M.A., Rolland,T.,
            Charloteaux,B., Lindquist,S., Barabasi,A.L., Hill,D.E., Aloy,P.,
            Cusick,M.E., Xia,Y., Roth,F.P. and Vidal,M.
  TITLE     An inter-species protein-protein interaction network across vast
            evolutionary distance
  JOURNAL   Mol Syst Biol 12 (4), 865 (2016)
   PUBMED   27107014
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3289)
  AUTHORS   Yang,X., Coulombe-Huntington,J., Kang,S., Sheynkman,G.M., Hao,T.,
            Richardson,A., Sun,S., Yang,F., Shen,Y.A., Murray,R.R., Spirohn,K.,
            Begg,B.E., Duran-Frigola,M., MacWilliams,A., Pevzner,S.J.,
            Zhong,Q., Wanamaker,S.A., Tam,S., Ghamsari,L., Sahni,N., Yi,S.,
            Rodriguez,M.D., Balcha,D., Tan,G., Costanzo,M., Andrews,B.,
            Boone,C., Zhou,X.J., Salehi-Ashtiani,K., Charloteaux,B., Chen,A.A.,
            Calderwood,M.A., Aloy,P., Roth,F.P., Hill,D.E., Iakoucheva,L.M.,
            Xia,Y. and Vidal,M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   4  (bases 1 to 3289)
  AUTHORS   Sahni,N., Yi,S., Taipale,M., Fuxman Bass,J.I.,
            Coulombe-Huntington,J., Yang,F., Peng,J., Weile,J., Karras,G.I.,
            Wang,Y., Kovacs,I.A., Kamburov,A., Krykbaeva,I., Lam,M.H.,
            Tucker,G., Khurana,V., Sharma,A., Liu,Y.Y., Yachie,N., Zhong,Q.,
            Shen,Y., Palagi,A., San-Miguel,A., Fan,C., Balcha,D., Dricot,A.,
            Jordan,D.M., Walsh,J.M., Shah,A.A., Yang,X., Stoyanova,A.K.,
            Leighton,A., Calderwood,M.A., Jacob,Y., Cusick,M.E.,
            Salehi-Ashtiani,K., Whitesell,L.J., Sunyaev,S., Berger,B.,
            Barabasi,A.L., Charloteaux,B., Hill,D.E., Hao,T., Roth,F.P.,
            Xia,Y., Walhout,A.J.M., Lindquist,S. and Vidal,M.
  TITLE     Widespread macromolecular interaction perturbations in human
            genetic disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   5  (bases 1 to 3289)
  AUTHORS   Yu,H., Tardivo,L., Tam,S., Weiner,E., Gebreab,F., Fan,C.,
            Svrzikapa,N., Hirozane-Kishikawa,T., Rietman,E., Yang,X.,
            Sahalie,J., Salehi-Ashtiani,K., Hao,T., Cusick,M.E., Hill,D.E.,
            Roth,F.P., Braun,P. and Vidal,M.
  TITLE     Next-generation sequencing to generate interactome datasets
  JOURNAL   Nat Methods 8 (6), 478-480 (2011)
   PUBMED   21516116
REFERENCE   6  (bases 1 to 3289)
  AUTHORS   Xin,X., Rual,J.F., Hirozane-Kishikawa,T., Hill,D.E., Vidal,M.,
            Boone,C. and Thierry-Mieg,N.
  TITLE     Shifted Transversal Design smart-pooling for high coverage
            interactome mapping
  JOURNAL   Genome Res 19 (7), 1262-1269 (2009)
   PUBMED   19447967
REFERENCE   7  (bases 1 to 3289)
  AUTHORS   Venkatesan,K., Rual,J.F., Vazquez,A., Stelzl,U., Lemmens,I.,
            Hirozane-Kishikawa,T., Hao,T., Zenkner,M., Xin,X., Goh,K.I.,
            Yildirim,M.A., Simonis,N., Heinzmann,K., Gebreab,F., Sahalie,J.M.,
            Cevik,S., Simon,C., de Smet,A.S., Dann,E., Smolyar,A.,
            Vinayagam,A., Yu,H., Szeto,D., Borick,H., Dricot,A., Klitgord,N.,
            Murray,R.R., Lin,C., Lalowski,M., Timm,J., Rau,K., Boone,C.,
            Braun,P., Cusick,M.E., Roth,F.P., Hill,D.E., Tavernier,J.,
            Wanker,E.E., Barabasi,A.L. and Vidal,M.
  TITLE     An empirical framework for binary interactome mapping
  JOURNAL   Nat Methods 6 (1), 83-90 (2009)
   PUBMED   19060904
REFERENCE   8  (bases 1 to 3289)
  AUTHORS   Lim,J., Hao,T., Shaw,C., Patel,A.J., Szabo,G., Rual,J.F.,
            Fisk,C.J., Li,N., Smolyar,A., Hill,D.E., Barabasi,A.L., Vidal,M.
            and Zoghbi,H.Y.
  TITLE     A protein-protein interaction network for human inherited ataxias
            and disorders of Purkinje cell degeneration
  JOURNAL   Cell 125 (4), 801-814 (2006)
   PUBMED   16713569
REFERENCE   9  (bases 1 to 3289)
  AUTHORS   Ishikawa,S., Kobayashi,I., Hamada,J., Tada,M., Hirai,A.,
            Furuuchi,K., Takahashi,Y., Ba,Y. and Moriuchi,T.
  TITLE     Interaction of MCC2, a novel homologue of MCC tumor suppressor,
            with PDZ-domain Protein AIE-75
  JOURNAL   Gene 267 (1), 101-110 (2001)
   PUBMED   11311560
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC104522.2, BC027910.1, AB026290.1 and AC010646.5.
            
            On May 17, 2019 this sequence version replaced NM_031941.3.
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1). Both variant 1 and 3
            encode the same isoform (1).
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000252597.8/ ENSP00000252597.2
            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
            1-10                AC104522.2         17557-17566         c
            11-1730             BC027910.1         1-1720
            1731-2301           AB026290.1         1700-2270
            2302-2420           AC010646.5         40400-40518         c
            2421-3289           AC010646.5         39531-40399         c
FEATURES             Location/Qualifiers
     source          1..3289
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     gene            1..3289
                     /gene="USHBP1"
                     /gene_synonym="AIEBP; MCC2"
                     /note="USH1 protein network component harmonin binding
                     protein 1"
                     /db_xref="GeneID:83878"
                     /db_xref="HGNC:HGNC:24058"
                     /db_xref="MIM:611810"
     exon            1..75
                     /gene="USHBP1"
                     /gene_synonym="AIEBP; MCC2"
                     /inference="alignment:Splign:2.1.0"
     exon            76..177
                     /gene="USHBP1"
                     /gene_synonym="AIEBP; MCC2"
                     /inference="alignment:Splign:2.1.0"
     CDS             124..2235
                     /gene="USHBP1"
                     /gene_synonym="AIEBP; MCC2"
                     /note="isoform 1 is encoded by transcript variant 1; usher
                     syndrome type-1C protein-binding protein 1; AIE-75-binding
                     protein; USH1C-binding protein 1; mutated in colon cancer
                     protein 2; Usher syndrome 1C binding protein 1;
                     harmonin-binding protein USHBP1"
                     /codon_start=1
                     /product="harmonin-binding protein USHBP1 isoform 1"
                     /protein_id="NP_114147.2"
                     /db_xref="CCDS:CCDS12353.1"
                     /db_xref="GeneID:83878"
                     /db_xref="HGNC:HGNC:24058"
                     /db_xref="MIM:611810"
                     /translation="MSARATRPRSRRGRHAPPGELDPVAESSEEVEAASGSSKPSFAP
                     PPVSSGLEQLGPMEEVSGQGLGSRTDKKMDGGSGRELASAPEVPHKPAVEAHQAPEAA
                     LQYKETVPPGNGAPDVFQTLQHTLSSLEAAAAAWRHQPPSHSGPMEFEGTSEGGAGSL
                     GKQEGAGSCQREAARLAERNAWLRLALSSREDELVRTQASLEAIRAEKETLQKEVQEL
                     QDSLLRLEPCPHLSHNQAGGSGSGSSSSEADREPWETQDSFSLAHPLLRRLRSHSSTQ
                     ILGSLPNQPLSPEMHIMEAQMEQLRGSIEKLKCFNRLLSAVLQGYKGRCEGLSMQLGQ
                     REAEATALHLALQYSEHCEEAYRVLLALREADSGAGDEAPMSDLQAAEKEAWRLLAQE
                     EAAMDAGAQQNPQPSPEGSSVDKPTPQEVAFQLRSYVQRLQERRSLMKILSEPGPTLA
                     PMPTVPRAEAMVQAILGTQAGPALPRLEKTQIQQDLVAAREALADLMLRLQLVRREKR
                     GLELREAALRALGPAHVLLLEQLRWERAELQAGGANSSGGHSSGGGSSGDEEEWYQGL
                     PAVPGGTSGIDGGQVGRAWDPEKLAQELAASLTRTLDLQEQLQSLRRELEQVAQKGRA
                     RRSQSAELNRDLCKAHSALVLAFRGAHRKQEEQRRKLEQQMALMEAQQAEEVAVLEAT
                     ARALGKPRPPLPPPQLGDTFL"
     exon            178..326
                     /gene="USHBP1"
                     /gene_synonym="AIEBP; MCC2"
                     /inference="alignment:Splign:2.1.0"
     exon            327..765
                     /gene="USHBP1"
                     /gene_synonym="AIEBP; MCC2"
                     /inference="alignment:Splign:2.1.0"
     exon            766..891
                     /gene="USHBP1"
                     /gene_synonym="AIEBP; MCC2"
                     /inference="alignment:Splign:2.1.0"
     exon            892..1028
                     /gene="USHBP1"
                     /gene_synonym="AIEBP; MCC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1029..1169
                     /gene="USHBP1"
                     /gene_synonym="AIEBP; MCC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1170..1343
                     /gene="USHBP1"
                     /gene_synonym="AIEBP; MCC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1344..1593
                     /gene="USHBP1"
                     /gene_synonym="AIEBP; MCC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1594..1815
                     /gene="USHBP1"
                     /gene_synonym="AIEBP; MCC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1816..1922
                     /gene="USHBP1"
                     /gene_synonym="AIEBP; MCC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1923..2045
                     /gene="USHBP1"
                     /gene_synonym="AIEBP; MCC2"
                     /inference="alignment:Splign:2.1.0"
     exon            2046..3289
                     /gene="USHBP1"
                     /gene_synonym="AIEBP; MCC2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2283..2288
                     /regulatory_class="polyA_signal_sequence"
                     /gene="USHBP1"
                     /gene_synonym="AIEBP; MCC2"
                     /note="hexamer: CATAAA"
     polyA_site      2302
                     /gene="USHBP1"
                     /gene_synonym="AIEBP; MCC2"
                     /note="major polyA site"
     regulatory      3265..3270
                     /regulatory_class="polyA_signal_sequence"
                     /gene="USHBP1"
                     /gene_synonym="AIEBP; MCC2"
                     /note="hexamer: AATAAA"
     polyA_site      3289
                     /gene="USHBP1"
                     /gene_synonym="AIEBP; MCC2"
                     /note="major polyA site"
ORIGIN      
        1 agtggtcaga gtgaccccaa cagagtgtcc cgggactcag gcctctgatc aagttacccc
       61 cagaggatca gagaggggtt gacgaaggag aagcattcag agggcactgg cttctggaca
      121 gcaatgagtg cccgggccac gcggccccga agccggcgag ggaggcatgc tccacccggt
      181 gaactggatc ccgtggctga gagttcagag gaggtcgagg cagccagtgg gagctccaag
      241 cccagctttg ccccacctcc ggtgagctcc gggctggagc agctgggccc catggaggag
      301 gtcagtggcc aaggcctagg aagcaggact gacaagaaga tggatggggg ctctggcagg
      361 gaactggcct cagcccccga agtgccccac aaacctgcag tggaagccca ccaagcccca
      421 gaagcagccc tacagtacaa ggagactgtg ccccctggga atggggcccc cgatgtgttt
      481 cagaccctcc agcacactct gagctccctg gaggcagcgg ctgcagcctg gcgccaccag
      541 ccccccagcc attctgggcc gatggagttc gaaggcacaa gcgaaggggg agcaggttcc
      601 cttgggaagc aggaaggggc agggagctgc cagcgagagg cagctcgcct ggccgagagg
      661 aatgcctggc tccggctggc cctgagtagc cgagaggatg agctggtccg cacgcaggcc
      721 tccctggagg ccatccgagc tgagaaggag acgctgcaga aagaggttca agagctgcag
      781 gattccctct tgaggctgga gccctgccca catctttccc acaaccaagc aggtggctca
      841 ggcagtggtt ctagcagctc tgaggcagac agggaaccct gggagactca ggactccttc
      901 tccctggctc accccctgct tcggcgcctc cgcagccatt ccagcaccca gatccttggg
      961 tctcttccca accagcccct cagtcctgag atgcacatca tggaagccca gatggagcaa
     1021 ctccggggga gcattgagaa gctcaaatgc tttaatcgtc tgctatcagc tgtgctacag
     1081 ggatacaagg gccgctgtga aggcctcagc atgcagctag gccagcggga ggctgaggcc
     1141 acagcattgc atctggcctt gcagtacagt gaacactgtg aagaggcata cagggttctg
     1201 cttgctctgc gggaggccga ctcaggagca ggagacgaag cccccatgag tgacctgcaa
     1261 gcagctgaaa aggaagcatg gaggctgctg gcacaagagg aggctgccat ggatgcagga
     1321 gcacagcaga atccacagcc aagccctgaa ggcagcagtg tggataagcc caccccacag
     1381 gaagtggctt tccagctccg aagctatgtc cagcgtctcc aggagcgccg ttctctaatg
     1441 aagattctct cagagcctgg ccccaccttg gcacccatgc ccactgtgcc ccgtgcagaa
     1501 gccatggtgc aggccattct ggggacccag gctggcccag ctcttccccg actggagaag
     1561 acacaaattc agcaggacct ggtggccgca agggaggccc tggcggacct gatgcttcgg
     1621 ctgcagctgg tgcggcgtga gaagcggggc ctagagctgc gggaggctgc cctccgagcc
     1681 ctgggtccag ctcacgtgct cctgctggag cagctgcggt gggaacgggc agagctccag
     1741 gctggtgggg caaacagcag tggcggacat agcagcggag gtggcagcag cggggacgag
     1801 gaagagtggt atcagggcct tcctgctgtc cctggtggca ccagtggcat tgatggtggc
     1861 caggtgggca gagcctggga cccagagaag ttagcccagg aactggcagc atcgctcacc
     1921 aggacactgg acctgcagga gcagctgcag tctctgcgca gggagctgga acaggtggct
     1981 cagaaggggc gagccagacg gtctcagagt gccgagctga acagggattt atgcaaagcc
     2041 cacagcgccc tggtcctggc cttccgagga gcccaccgga agcaggaaga gcaacgccgg
     2101 aagttggagc agcagatggc actcatggag gctcagcagg ccgaggaggt ggcggtgctc
     2161 gaagccactg caagggccct ggggaagccc aggcctcccc tcccgcctcc ccagcttggg
     2221 gacacctttc tgtaggcccc ttacccagcc atgtctggac atgccagaca gctgtggcat
     2281 gtcataaact gtcctggagt gacatcatgt catgttgcat gatttggcat gttggggcac
     2341 atttggcgtg agggaagctg gtgcacatgg gtgtccaggg cctgatgggg tgtggccagg
     2401 caatgaagaa agactcaggt gtctttggcc tggcaccaag tggaatgtga acttcatatc
     2461 agtggggtca ggccagaagc aacctgggct atgggaccag gtccctggga ctgacgcatt
     2521 tcgggggtcc gtgaggttgc atagccacag ctgaagttcc aactggcctg tctcccgaag
     2581 cccagggagg gattcatggg gactggacag agcttctcct ggcagcccct tcccagggag
     2641 atgctgggtt tggctggcag attttcctga agggggccgg gctcagtggt gcacatctgt
     2701 aatcccagca ttttgggagg ccaaggtggg tagatcactt gagcccagga gttcaagacc
     2761 agcctgggca acatggcaaa accccatttc tacaaaaaaa tacaaaaatt agccaggcgt
     2821 ggtggcatgt gcctataaag atatttagga ggctaaagtg ggagggtaac ttgagcttgg
     2881 gaagtggagg ttgcagtgag ctgagatcac gccactgcac tccagtctgg gtcacagagt
     2941 aagaccttgt ctcaaaaaaa aaaacaggcc aggcgtggtg actcatgcct gtaatcccag
     3001 cactttggga ggctgaggcg gggaggatca cctgaggtca ggagcttgag accagcttgg
     3061 ccaacatggt gaaacccccg tctctactaa aaatacaaaa attggctggg tgttgtggca
     3121 catgcctgta atcccggcta ctcgggagac tgaggcagga taattgcttg aacctgagag
     3181 gcgggggttg cagtgaaccg agatcgcgcc aacaacaaga tcgtgcccgg gcaataagag
     3241 caaaactctg tctctaaata aataaataaa acacaaaaca aaacaaaaa
//
